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1. Feeding a branded, modified wet corn gluten feed to lactating dairy cows: A meta-regression approach

Author: Krogstad, K.C., Tempelman, R.J., Abney-Schulte, C., and Bradford, B.J.
Published: 2021
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2. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Author: Sugier, P, Lucotte, E, Domenighetti, C, Law, M, Iles, M, Brown, K, Amos, C, Mckay, J, Hung, R, Karimi, M, Bacq-Daian, D, Boland-Auge, A, Olaso, R, Deleuze, J, Lesueur, F, Ostroumova, E, Kesminiene, A, de Vathaire, F, Guenel, P, Sreelatha, A, Schulte, C, Grover, S, May, P, Bobbili, D, Radivojkov-Blagojevic, M, Lichtner, P, Singleton, A, Hernandez, D, Edsall, C, Mellick, G, Zimprich, A, Pirker, W, Rogaeva, E, Lang, A, Koks, S, Taba, P, Lesage, S, Brice, A, Corvol, J, Chartier-Harlin, M, Mutez, E, Brockmann, K, Deutschlander, A, Hadjigeorgiou, G, Dardiotis, E, Stefanis, L, Simitsi, A, Valente, E, Petrucci, S, Straniero, L, Zecchinelli, A, Pezzoli, G, Brighina, L, Ferrarese, C, Annesi, G, Quattrone, A, Gagliardi, M, Matsuo, H, Nakayama, A, Hattori, N, Nishioka, K, Chung, S, Kim, Y, Kolber, P, van de Warrenburg, B, Bloem, B, Aasly, J, Toft, M, Pihlstrom, L, Guedes, L, Ferreira, J, Bardien, S, Carr, J, Tolosa, E, Ezquerra, M, Pastor, P, Diez-Fairen, M, Wirdefeldt, K, Pedersen, N, Ran, C, Belin, A, Puschmann, A, Rodstrom, E, Clarke, C, Morrison, K, Tan, M, Krainc, D, Burbulla, L, Farrer, M, Kruger, R, Gasser, T, Sharma, M, Truong, T, Elbaz, A, Sugier P. -E., Lucotte E. A., Domenighetti C., Law M. H., Iles M. M., Brown K., Amos C., McKay J. D., Hung R. J., Karimi M., Bacq-Daian D., Boland-Auge A., Olaso R., Deleuze J. -F., Lesueur F., Ostroumova E., Kesminiene A., de Vathaire F., Guenel P., Sreelatha A. A. K., Schulte C., Grover S., May P., Bobbili D. R., Radivojkov-Blagojevic M., Lichtner P., Singleton A. B., Hernandez D. G., Edsall C., Mellick G. D., Zimprich A., Pirker W., Rogaeva E., Lang A. E., Koks S., Taba P., Lesage S., Brice A., Corvol J. -C., Chartier-Harlin M. -C., Mutez E., Brockmann K., Deutschlander A. B., Hadjigeorgiou G. M., Dardiotis E., Stefanis L., Simitsi A. M., Valente E. M., Petrucci S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Matsuo H., Nakayama A., Hattori N., Nishioka K., Chung S. J., Kim Y. J., Kolber P., van de Warrenburg B. P. C., Bloem B. R., Aasly J., Toft M., Pihlstrom L., Guedes L. C., Ferreira J. J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N., Ran C., Belin A. C., Puschmann A., Rodstrom E. Y., Clarke C. E., Morrison K. E., Tan M., Krainc D., Burbulla L. F., Farrer M. J., Kruger R., Gasser T., Sharma M., Truong T., Elbaz A., Sugier, P, Lucotte, E, Domenighetti, C, Law, M, Iles, M, Brown, K, Amos, C, Mckay, J, Hung, R, Karimi, M, Bacq-Daian, D, Boland-Auge, A, Olaso, R, Deleuze, J, Lesueur, F, Ostroumova, E, Kesminiene, A, de Vathaire, F, Guenel, P, Sreelatha, A, Schulte, C, Grover, S, May, P, Bobbili, D, Radivojkov-Blagojevic, M, Lichtner, P, Singleton, A, Hernandez, D, Edsall, C, Mellick, G, Zimprich, A, Pirker, W, Rogaeva, E, Lang, A, Koks, S, Taba, P, Lesage, S, Brice, A, Corvol, J, Chartier-Harlin, M, Mutez, E, Brockmann, K, Deutschlander, A, Hadjigeorgiou, G, Dardiotis, E, Stefanis, L, Simitsi, A, Valente, E, Petrucci, S, Straniero, L, Zecchinelli, A, Pezzoli, G, Brighina, L, Ferrarese, C, Annesi, G, Quattrone, A, Gagliardi, M, Matsuo, H, Nakayama, A, Hattori, N, Nishioka, K, Chung, S, Kim, Y, Kolber, P, van de Warrenburg, B, Bloem, B, Aasly, J, Toft, M, Pihlstrom, L, Guedes, L, Ferreira, J, Bardien, S, Carr, J, Tolosa, E, Ezquerra, M, Pastor, P, Diez-Fairen, M, Wirdefeldt, K, Pedersen, N, Ran, C, Belin, A, Puschmann, A, Rodstrom, E, Clarke, C, Morrison, K, Tan, M, Krainc, D, Burbulla, L, Farrer, M, Kruger, R, Gasser, T, Sharma, M, Truong, T, Elbaz, A, Sugier P. -E., Lucotte E. A., Domenighetti C., Law M. H., Iles M. M., Brown K., Amos C., McKay J. D., Hung R. J., Karimi M., Bacq-Daian D., Boland-Auge A., Olaso R., Deleuze J. -F., Lesueur F., Ostroumova E., Kesminiene A., de Vathaire F., Guenel P., Sreelatha A. A. K., Schulte C., Grover S., May P., Bobbili D. R., Radivojkov-Blagojevic M., Lichtner P., Singleton A. B., Hernandez D. G., Edsall C., Mellick G. D., Zimprich A., Pirker W., Rogaeva E., Lang A. E., Koks S., Taba P., Lesage S., Brice A., Corvol J. -C., Chartier-Harlin M. -C., Mutez E., Brockmann K., Deutschlander A. B., Hadjigeorgiou G. M., Dardiotis E., Stefanis L., Simitsi A. M., Valente E. M., Petrucci S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Matsuo H., Nakayama A., Hattori N., Nishioka K., Chung S. J., Kim Y. J., Kolber P., van de Warrenburg B. P. C., Bloem B. R., Aasly J., Toft M., Pihlstrom L., Guedes L. C., Ferreira J. J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N., Ran C., Belin A. C., Puschmann A., Rodstrom E. Y., Clarke C. E., Morrison K. E., Tan M., Krainc D., Burbulla L. F., Farrer M. J., Kruger R., Gasser T., Sharma M., Truong T., and Elbaz A.
Abstract: Background: Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. Objective: We used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors. Methods: We used individual data for participants of European ancestry from the Courage-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease; PD, N = 16,519) and EPITHYR (differentiated thyroid cancer, N = 3527) consortia and summary statistics of GWASs from iPDGC (International Parkinson Disease Genomics Consortium; PD, N = 482,730), Melanoma Meta-Analysis Consortium (MMAC), Breast Cancer Association Consortium (breast cancer), the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (prostate cancer), International Lung Cancer Consortium (lung cancer), and Ovarian Cancer Association Consortium (ovarian cancer) (N comprised between 36,017 and 228,951 for cancer GWASs). We estimated the genetic correlation between PD and cancers using linkage disequilibrium score regression. We studied the association between PD and polymorphisms associated with cancers, and vice versa, using cross-phenotypes polygenic risk score (PRS) analyses. Results: We confirmed a previously reported positive genetic correlation of PD with melanoma (Gcorr = 0.16 [0.04; 0.28]) and reported an additional significant positive correlation of PD with prostate cancer (Gcorr = 0.11 [0.03; 0.19]). There was a significant inverse association between the PRS for ovarian cancer and PD (odds ratio [OR] = 0.89 [0.84; 0.94]). Conversely, the PRS of PD was positively associated with breast cancer (OR = 1.08 [1.06; 1.10]) and inversely associated with ovarian cancer (OR = 0.95 [0.91; 0.99]). The association between PD and ovarian cancer was mostly driven b
Published: 2023

3. The Rigged Hilbert Space Formulation of Quantum Mechanics and its Implications for Irreversibility

Author: Schulte, C., Twarock, R., and Bohm, A.
Subjects: Quantum Physics
Abstract: Quantum mechanics in the Rigged Hilbert Space formulation describes quasistationary phenomena mathematically rigorously in terms of Gamow vectors. We show that these vectors exhibit microphysical irreversibility, related to an intrinsic quantum mechanical arrow of time, which states that preparation of a state has to precede the registration of an observable in this state. Moreover, the Rigged Hilbert Space formalism allows the derivation of an exact golden rule describing the transition of a pure Gamow state into a mixture of interaction-free decay products., Comment: 18 pages, latex
Published: 1995

4. Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease

Author: Domenighetti, C, Sugier, P, Sreelatha, A, Schulte, C, Grover, S, Mohamed, O, Portugal, B, May, P, Bobbili, D, Radivojkov-Blagojevic, M, Lichtner, P, Singleton, A, Hernandez, D, Edsall, C, Mellick, G, Zimprich, A, Pirker, W, Rogaeva, E, Lang, A, Koks, S, Taba, P, Lesage, S, Brice, A, Corvol, J, Chartier-Harlin, M, Mutez, E, Brockmann, K, Deutschlander, A, Hadjigeorgiou, G, Dardiotis, E, Stefanis, L, Simitsi, A, Valente, E, Petrucci, S, Duga, S, Straniero, L, Zecchinelli, A, Pezzoli, G, Brighina, L, Ferrarese, C, Annesi, G, Quattrone, A, Gagliardi, M, Matsuo, H, Kawamura, Y, Hattori, N, Nishioka, K, Chung, S, Kim, Y, Kolber, P, Van De Warrenburg, B, Bloem, B, Aasly, J, Toft, M, Pihlstrom, L, Guedes, L, Ferreira, J, Bardien, S, Carr, J, Tolosa, E, Ezquerra, M, Pastor, P, Diez-Fairen, M, Wirdefeldt, K, Pedersen, N, Ran, C, Belin, A, Puschmann, A, Hellberg, C, Clarke, C, Morrison, K, Tan, M, Krainc, D, Burbulla, L, Farrer, M, Kruger, R, Gasser, T, Sharma, M, Elbaz, A, Domenighetti C., Sugier P. -E., Sreelatha A. A. K., Schulte C., Grover S., Mohamed O., Portugal B., May P., Bobbili D. R., Radivojkov-Blagojevic M., Lichtner P., Singleton A. B., Hernandez D. G., Edsall C., Mellick G. D., Zimprich A., Pirker W., Rogaeva E., Lang A. E., Koks S., Taba P., Lesage S., Brice A., Corvol J. -C., Chartier-Harlin M. -C., Mutez E., Brockmann K., Deutschlander A. B., Hadjigeorgiou G. M., Dardiotis E., Stefanis L., Simitsi A. M., Valente E. M., Petrucci S., Duga S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S. J., Kim Y. J., Kolber P., Van De Warrenburg B. P. C., Bloem B. R., Aasly J., Toft M., Pihlstrom L., Guedes L. C., Ferreira J. J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N. L., Ran C., Belin A. C., Puschmann A., Hellberg C., Clarke C. E., Morrison K. E., Tan M., Krainc D., Burbulla L. F., Farrer M. J., Kruger R., Gasser T., Sharma M., Elbaz A., Domenighetti, C, Sugier, P, Sreelatha, A, Schulte, C, Grover, S, Mohamed, O, Portugal, B, May, P, Bobbili, D, Radivojkov-Blagojevic, M, Lichtner, P, Singleton, A, Hernandez, D, Edsall, C, Mellick, G, Zimprich, A, Pirker, W, Rogaeva, E, Lang, A, Koks, S, Taba, P, Lesage, S, Brice, A, Corvol, J, Chartier-Harlin, M, Mutez, E, Brockmann, K, Deutschlander, A, Hadjigeorgiou, G, Dardiotis, E, Stefanis, L, Simitsi, A, Valente, E, Petrucci, S, Duga, S, Straniero, L, Zecchinelli, A, Pezzoli, G, Brighina, L, Ferrarese, C, Annesi, G, Quattrone, A, Gagliardi, M, Matsuo, H, Kawamura, Y, Hattori, N, Nishioka, K, Chung, S, Kim, Y, Kolber, P, Van De Warrenburg, B, Bloem, B, Aasly, J, Toft, M, Pihlstrom, L, Guedes, L, Ferreira, J, Bardien, S, Carr, J, Tolosa, E, Ezquerra, M, Pastor, P, Diez-Fairen, M, Wirdefeldt, K, Pedersen, N, Ran, C, Belin, A, Puschmann, A, Hellberg, C, Clarke, C, Morrison, K, Tan, M, Krainc, D, Burbulla, L, Farrer, M, Kruger, R, Gasser, T, Sharma, M, Elbaz, A, Domenighetti C., Sugier P. -E., Sreelatha A. A. K., Schulte C., Grover S., Mohamed O., Portugal B., May P., Bobbili D. R., Radivojkov-Blagojevic M., Lichtner P., Singleton A. B., Hernandez D. G., Edsall C., Mellick G. D., Zimprich A., Pirker W., Rogaeva E., Lang A. E., Koks S., Taba P., Lesage S., Brice A., Corvol J. -C., Chartier-Harlin M. -C., Mutez E., Brockmann K., Deutschlander A. B., Hadjigeorgiou G. M., Dardiotis E., Stefanis L., Simitsi A. M., Valente E. M., Petrucci S., Duga S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S. J., Kim Y. J., Kolber P., Van De Warrenburg B. P. C., Bloem B. R., Aasly J., Toft M., Pihlstrom L., Guedes L. C., Ferreira J. J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N. L., Ran C., Belin A. C., Puschmann A., Hellberg C., Clarke C. E., Morrison K. E., Tan M., Krainc D., Burbulla L. F., Farrer M. J., Kruger R., Gasser T., Sharma M., and Elbaz A.
Abstract: Background: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD raises the possibility that these associations may be explained by reverse causation. Objective: To examine associations of lifestyle behaviors with PD using two-sample Mendelian randomisation (MR) and the potential for survival and incidence-prevalence biases. Methods: We used summary statistics from publicly available studies to estimate the association of genetic polymorphisms with lifestyle behaviors, and from Courage-PD (7,369 cases, 7,018 controls; European ancestry) to estimate the association of these variants with PD. We used the inverse-variance weighted method to compute odds ratios (ORIVW) of PD and 95%confidence intervals (CI). Significance was determined using a Bonferroni-corrected significance threshold (p = 0.017). Results: We found a significant inverse association between smoking initiation and PD (ORIVW per 1-SD increase in the prevalence of ever smoking = 0.74, 95%CI = 0.60-0.93, p = 0.009) without significant directional pleiotropy. Associations in participants =67 years old and cases with disease duration =7 years were of a similar size. No significant associations were observed for alcohol and coffee drinking. In reverse MR, genetic liability toward PD was not associated with smoking or coffee drinking but was positively associated with alcohol drinking. Conclusion: Our findings are in favor of an inverse association between smoking and PD that is not explained by reverse causation, confounding, and survival or incidence-prevalence biases. Genetic liability toward PD was positively associated with alcohol drinking. Conclusions on the association of alcohol and coffee drinking with PD are hampered by insufficient statistical power.
Published: 2022

5. Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study

Author: Domenighetti, C, Sugier, P, Ashok Kumar Sreelatha, A, Schulte, C, Grover, S, Mohamed, O, Portugal, B, May, P, Bobbili, D, Radivojkov-Blagojevic, M, Lichtner, P, Singleton, A, Hernandez, D, Edsall, C, Mellick, G, Zimprich, A, Pirker, W, Rogaeva, E, Lang, A, Koks, S, Taba, P, Lesage, S, Brice, A, Corvol, J, Chartier-Harlin, M, Mutez, E, Brockmann, K, Deutschlander, A, Hadjigeorgiou, G, Dardiotis, E, Stefanis, L, Simitsi, A, Valente, E, Petrucci, S, Duga, S, Straniero, L, Zecchinelli, A, Pezzoli, G, Brighina, L, Ferrarese, C, Annesi, G, Quattrone, A, Gagliardi, M, Matsuo, H, Kawamura, Y, Hattori, N, Nishioka, K, Chung, S, Kim, Y, Kolber, P, van de Warrenburg, B, Bloem, B, Aasly, J, Toft, M, Pihlstrom, L, Correia Guedes, L, Ferreira, J, Bardien, S, Carr, J, Tolosa, E, Ezquerra, M, Pastor, P, Diez-Fairen, M, Wirdefeldt, K, Pedersen, N, Ran, C, Belin, A, Puschmann, A, Hellberg, C, Clarke, C, Morrison, K, Tan, M, Krainc, D, Burbulla, L, Farrer, M, Kruger, R, Gasser, T, Sharma, M, Elbaz, A, Domenighetti C., Sugier P. -E., Ashok Kumar Sreelatha A., Schulte C., Grover S., Mohamed O., Portugal B., May P., Bobbili D. R., Radivojkov-Blagojevic M., Lichtner P., Singleton A. B., Hernandez D. G., Edsall C., Mellick G. D., Zimprich A., Pirker W., Rogaeva E., Lang A. E., Koks S., Taba P., Lesage S., Brice A., Corvol J. -C., Chartier-Harlin M. -C., Mutez E., Brockmann K., Deutschlander A. B., Hadjigeorgiou G. M., Dardiotis E., Stefanis L., Simitsi A. M., Valente E. M., Petrucci S., Duga S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S. J., Kim Y. J., Kolber P., van de Warrenburg B. P. C., Bloem B. R., Aasly J., Toft M., Pihlstrom L., Correia Guedes L., Ferreira J. J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N. L., Ran C., Belin A. C., Puschmann A., Hellberg C., Clarke C. E., Morrison K. E., Tan M., Krainc D., Burbulla L. F., Farrer M. J., Kruger R., Gasser T., Sharma M., Elbaz A., Domenighetti, C, Sugier, P, Ashok Kumar Sreelatha, A, Schulte, C, Grover, S, Mohamed, O, Portugal, B, May, P, Bobbili, D, Radivojkov-Blagojevic, M, Lichtner, P, Singleton, A, Hernandez, D, Edsall, C, Mellick, G, Zimprich, A, Pirker, W, Rogaeva, E, Lang, A, Koks, S, Taba, P, Lesage, S, Brice, A, Corvol, J, Chartier-Harlin, M, Mutez, E, Brockmann, K, Deutschlander, A, Hadjigeorgiou, G, Dardiotis, E, Stefanis, L, Simitsi, A, Valente, E, Petrucci, S, Duga, S, Straniero, L, Zecchinelli, A, Pezzoli, G, Brighina, L, Ferrarese, C, Annesi, G, Quattrone, A, Gagliardi, M, Matsuo, H, Kawamura, Y, Hattori, N, Nishioka, K, Chung, S, Kim, Y, Kolber, P, van de Warrenburg, B, Bloem, B, Aasly, J, Toft, M, Pihlstrom, L, Correia Guedes, L, Ferreira, J, Bardien, S, Carr, J, Tolosa, E, Ezquerra, M, Pastor, P, Diez-Fairen, M, Wirdefeldt, K, Pedersen, N, Ran, C, Belin, A, Puschmann, A, Hellberg, C, Clarke, C, Morrison, K, Tan, M, Krainc, D, Burbulla, L, Farrer, M, Kruger, R, Gasser, T, Sharma, M, Elbaz, A, Domenighetti C., Sugier P. -E., Ashok Kumar Sreelatha A., Schulte C., Grover S., Mohamed O., Portugal B., May P., Bobbili D. R., Radivojkov-Blagojevic M., Lichtner P., Singleton A. B., Hernandez D. G., Edsall C., Mellick G. D., Zimprich A., Pirker W., Rogaeva E., Lang A. E., Koks S., Taba P., Lesage S., Brice A., Corvol J. -C., Chartier-Harlin M. -C., Mutez E., Brockmann K., Deutschlander A. B., Hadjigeorgiou G. M., Dardiotis E., Stefanis L., Simitsi A. M., Valente E. M., Petrucci S., Duga S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S. J., Kim Y. J., Kolber P., van de Warrenburg B. P. C., Bloem B. R., Aasly J., Toft M., Pihlstrom L., Correia Guedes L., Ferreira J. J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N. L., Ran C., Belin A. C., Puschmann A., Hellberg C., Clarke C. E., Morrison K. E., Tan M., Krainc D., Burbulla L. F., Farrer M. J., Kruger R., Gasser T., Sharma M., and Elbaz A.
Abstract: Background: Previous prospective studies highlighted dairy intake as a risk factor for Parkinson's disease (PD), particularly in men. It is unclear whether this association is causal or explained by reverse causation or confounding. Objective: The aim is to examine the association between genetically predicted dairy intake and PD using two-sample Mendelian randomization (MR). Methods: We genotyped a well-established instrumental variable for dairy intake located in the lactase gene (rs4988235) within the Courage-PD consortium (23 studies; 9823 patients and 8376 controls of European ancestry). Results: Based on a dominant model, there was an association between genetic predisposition toward higher dairy intake and PD (odds ratio [OR] per one serving per day = 1.70, 95% confidence interval = 1.12–2.60, P = 0.013) that was restricted to men (OR = 2.50 [1.37–4.56], P = 0.003; P-difference with women = 0.029). Conclusions: Using MR, our findings provide further support for a causal relationship between dairy intake and higher PD risk, not biased by confounding or reverse causation. Further studies are needed to elucidate the underlying mechanisms. © 2022 International Parkinson and Movement Disorder Society.
Published: 2022

6. Computer Science Education: Perspectives on Teaching and Learning in School

Author: Sentance, S., Barendsen, E., Howard, N.R., Schulte, C., Sentance, S., Barendsen, E., Howard, N.R., and Schulte, C.
Abstract: Item does not contain fulltext, Drawing together the most up-to-date research from experts all across the world, the second edition of Computer Science Education offers the most up-to-date coverage available on this developing subject, ideal for building confidence of new pre-service and in-service educators teaching a new discipline. It provides an international overview of key concepts, pedagogical approaches and assessment practices.Highlights of the second edition include:- New sections on machine learning and data-driven (epistemic) programming- A new focus on equity and inclusion in computer science education- Chapters updated throughout, including a revised chapter on relating ethical and societal aspects to knowledge-rich aspects of computer science education- A new set of chapters on the learning of programming, including design, pedagogy and misconceptions- A chapter on the way we use language in the computer science classroom.The book is structured to support the reader with chapter outlines, synopses and key points. Explanations of key concepts, real-life examples and reflective points keep the theory grounded in classroom practice.The book is accompanied by a companion website, including online summaries for each chapter, 3-minute video summaries by each author and an archived chapter on taxonomies and competencies from the first edition.
Published: 2023

7. Introduction to Part 3

Author: Sentance, S., Barendsen, E., Howard, N.R., Schulte, C., Sentance, S., Barendsen, E., Howard, N.R., and Schulte, C.
Abstract: Item does not contain fulltext
Published: 2023

8. Perspectives on Computing Curricula

Author: Sentance, S., Barendsen, E., Howard, N.R., Schulte, C., Saeli, M., Sentance, S., Barendsen, E., Howard, N.R., Schulte, C., and Saeli, M.
Abstract: Item does not contain fulltext
Published: 2023

9. Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Author: Sugier, P.E., Lucotte, E.A., Domenighetti, C., Law, M.H., Iles, M.M., Brown, K., Amos, C., McKay, J.D., Hung, R.J., Karimi, M., Bacq-Daian, D., Boland-Augé, A., Olaso, R., Deleuze, J.F., Lesueur, F., Ostroumova, E., Kesminiene, A., Vathaire, F. de, Guénel, P., Sreelatha, A.A.K., Schulte, C., Grover, S., May, P., Bobbili, D.R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Koks, S., Taba, P., Lesage, S., Brice, A., Corvol, J.C., Chartier-Harlin, M.C., Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Nakayama, A., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y. J., Kolber, P., Warrenburg, B.P.C. van de, Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez-Fairen, M., Wirdefeldt, K., Pedersen, N., Ran, C., Belin, A.C., Puschmann, A., Rödström, E.Y., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Kruger, R., Gasser, T., Sharma, M., Truong, T., Elbaz, A., Sugier, P.E., Lucotte, E.A., Domenighetti, C., Law, M.H., Iles, M.M., Brown, K., Amos, C., McKay, J.D., Hung, R.J., Karimi, M., Bacq-Daian, D., Boland-Augé, A., Olaso, R., Deleuze, J.F., Lesueur, F., Ostroumova, E., Kesminiene, A., Vathaire, F. de, Guénel, P., Sreelatha, A.A.K., Schulte, C., Grover, S., May, P., Bobbili, D.R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Koks, S., Taba, P., Lesage, S., Brice, A., Corvol, J.C., Chartier-Harlin, M.C., Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Nakayama, A., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y. J., Kolber, P., Warrenburg, B.P.C. van de, Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez-Fairen, M., Wirdefeldt, K., Pedersen, N., Ran, C., Belin, A.C., Puschmann, A., Rödström, E.Y., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Kruger, R., Gasser, T., Sharma, M., Truong, T., and Elbaz, A.
Abstract: Item does not contain fulltext, BACKGROUND: Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. OBJECTIVE: We used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors. METHODS: We used individual data for participants of European ancestry from the Courage-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson's Disease; PD, N = 16,519) and EPITHYR (differentiated thyroid cancer, N = 3527) consortia and summary statistics of GWASs from iPDGC (International Parkinson Disease Genomics Consortium; PD, N = 482,730), Melanoma Meta-Analysis Consortium (MMAC), Breast Cancer Association Consortium (breast cancer), the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (prostate cancer), International Lung Cancer Consortium (lung cancer), and Ovarian Cancer Association Consortium (ovarian cancer) (N comprised between 36,017 and 228,951 for cancer GWASs). We estimated the genetic correlation between PD and cancers using linkage disequilibrium score regression. We studied the association between PD and polymorphisms associated with cancers, and vice versa, using cross-phenotypes polygenic risk score (PRS) analyses. RESULTS: We confirmed a previously reported positive genetic correlation of PD with melanoma (G(corr) = 0.16 [0.04; 0.28]) and reported an additional significant positive correlation of PD with prostate cancer (G(corr) = 0.11 [0.03; 0.19]). There was a significant inverse association between the PRS for ovarian cancer and PD (odds ratio [OR] = 0.89 [0.84; 0.94]). Conversely, the PRS of PD was positively associated with breast cancer (OR = 1.08 [1.06; 1.10]) and inversely associated with ovarian cancer (OR = 0.95 [0.91; 0.99]). The association between PD and ovarian cancer was mostly driv
Published: 2023

10. VEGF beta is a candidate biomarker for cardiovascular risk stratification

Author: Schulte, C, primary, Mueller, C, additional, Escobar, J D, additional, Tong, T, additional, Lackner, K, additional, Schulze, A, additional, Blankenberg, S, additional, Salomaa, V, additional, Wild, P, additional, and Zeller, T, additional
Published: 2022
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11. EP04.02-007 First Comprehensive Lung Cancer Long-Term Survivorship Program- Competing Risks

Author: Nadjm, S., primary, Exner, J.-P.H., additional, Hepp De Los Rios, R., additional, Metzenmacher, M., additional, Hoffmann, A.-C., additional, Gauler, T., additional, Aigner, C., additional, Stamatis, G., additional, Oezkan, F., additional, Schulte, C., additional, Darwiche, K., additional, Taube, C., additional, Theegarten, D., additional, Plönes, T., additional, Pöttgen, C., additional, Umutlu, L., additional, Hautzel, H., additional, Schuler, M., additional, Stuschke, M., additional, and Eberhardt, W.E.E., additional
Published: 2022
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12. EP04.02-005 First Comprehensive Lung Cancer Long-Term Survivorship Program - Late Toxicities and Overall Survival

Author: Exner, J.-P.H., primary, Nadjm, S., additional, Hepp de los Rios, R., additional, Metzenmacher, M., additional, Hoffmann, A.-C., additional, Gauler, T.C., additional, Aigner, C., additional, Stamatis, G., additional, Oezkan, F., additional, Schulte, C., additional, Darwiche, K., additional, Taube, C., additional, Theegarten, D., additional, Plönes, T., additional, Poettgen, C., additional, Umutlu, L., additional, Hautzel, H., additional, Schuler, M., additional, Stuschke, M., additional, and Eberhardt, W.E.E., additional
Published: 2022
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13. MA06.08 Long-term Survival and Competing Risks of Death in the ESPATUE Randomized Phase-III Trial in Stage III NSCLC

Author: Eberhardt, W.E.E., primary, Poettgen, C., additional, Gauler, T.C., additional, Schulte, C., additional, Friedel, G., additional, Kopp, H.-G., additional, Fischer, B., additional, Schmidberger, H., additional, Kimmich, M., additional, Budach, W., additional, Cordes, S., additional, Metzenmacher, M., additional, de Los Rios, R. Hepp, additional, Spengler, W., additional, De Ruysscher, D., additional, Belka, C., additional, Welter, S., additional, Brintrup, D. Luetke, additional, Guberina, M., additional, Oezkan, F., additional, Darwiche, K., additional, Schuler, M., additional, Jöckel, K.-H., additional, Aigner, C., additional, Stamatis, G., additional, and Stuschke, M., additional
Published: 2022
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14. EP04.01-016 First Comprehensive Lung Cancer Long-Term Survivorship Analysis - Late Toxicities and Overall Survival

Author: Exner, J.-P., primary, Nadjm, S., additional, Hepp de los Rios, R., additional, Metzenmacher, M., additional, Hoffmann, A.-C., additional, Gauler, T.C., additional, Aigner, C., additional, Stamatis, G., additional, Oezkan, F., additional, Schulte, C., additional, Darwiche, K., additional, Taube, C., additional, Theegarten, D., additional, Plönes, T., additional, Pöttgen, C., additional, Umutlu, L., additional, Hautzel, H., additional, Schuler, M., additional, Stuschke, M., additional, and Eberhardt, W.E.E., additional
Published: 2022
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15. MicroRNA biomarkers of platelet function

Author: Gutmann, C, primary, Barwari, T, additional, Schulte, C, additional, Singh, B, additional, Theofilatos, K, additional, Joshi, A, additional, Zampetaki, A, additional, Chan, M, additional, Armstrong, P, additional, Kiechl, S, additional, Willeit, J, additional, Warner, T, additional, and Mayr, M, additional
Published: 2022
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16. Fallbericht: Milzarterien-Aneurysma und Splenomegalie bei Morbus Gaucher in der Schwangerschaft

Author: Trsnjak Radakovic, A, additional, Schulte, C, additional, Klein, I, additional, Peter, D, additional, Lichthardt, S, additional, Reibetanz, J, additional, Nothhaft, M, additional, Wöckel, A, additional, Lund, H, additional, and Rehn, M, additional
Published: 2022
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17. Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease

Author: Domenighetti, C., Sugier, P.E., Sreelatha, A.A.K., Schulte, C., Grover, S., Mohamed, O., Portugal, B., May, P., Bobbili, D.R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Koks, S., Taba, P., Lesage, S., Brice, A., Corvol, J.C., Chartier-Harlin, M.C., Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Duga, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Kawamura, Y., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y. J., Kolber, P., Warrenburg, B.P.C. van de, Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez-Fairen, M., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Hellberg, C., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Krüger, R., Gasser, T., Sharma, M., Elbaz, A., Domenighetti, C., Sugier, P.E., Sreelatha, A.A.K., Schulte, C., Grover, S., Mohamed, O., Portugal, B., May, P., Bobbili, D.R., Radivojkov-Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Koks, S., Taba, P., Lesage, S., Brice, A., Corvol, J.C., Chartier-Harlin, M.C., Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Duga, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Kawamura, Y., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y. J., Kolber, P., Warrenburg, B.P.C. van de, Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Guedes, L.C., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez-Fairen, M., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Hellberg, C., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Krüger, R., Gasser, T., Sharma, M., and Elbaz, A.
Abstract: Item does not contain fulltext, BACKGROUND: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD raises the possibility that these associations may be explained by reverse causation. OBJECTIVE: To examine associations of lifestyle behaviors with PD using two-sample Mendelian randomisation (MR) and the potential for survival and incidence-prevalence biases. METHODS: We used summary statistics from publicly available studies to estimate the association of genetic polymorphisms with lifestyle behaviors, and from Courage-PD (7,369 cases, 7,018 controls; European ancestry) to estimate the association of these variants with PD. We used the inverse-variance weighted method to compute odds ratios (ORIVW) of PD and 95%confidence intervals (CI). Significance was determined using a Bonferroni-corrected significance threshold (p = 0.017). RESULTS: We found a significant inverse association between smoking initiation and PD (ORIVW per 1-SD increase in the prevalence of ever smoking = 0.74, 95%CI = 0.60-0.93, p = 0.009) without significant directional pleiotropy. Associations in participants ≤67 years old and cases with disease duration ≤7 years were of a similar size. No significant associations were observed for alcohol and coffee drinking. In reverse MR, genetic liability toward PD was not associated with smoking or coffee drinking but was positively associated with alcohol drinking. CONCLUSION: Our findings are in favor of an inverse association between smoking and PD that is not explained by reverse causation, confounding, and survival or incidence-prevalence biases. Genetic liability toward PD was positively associated with alcohol drinking. Conclusions on the association of alcohol and coffee drinking with PD are hampered by insufficient statistical power.
Published: 2022

18. Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study

Author: Domenighetti, C., Sugier, P‐E, Ashok Kumar Sreelatha, A., Schulte, C., Grover, S., Mohamed, O., Portugal, B., May, P., Bobbili, D.R., Radivojkov‐Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Kõks, S., Taba, P., Lesage, S., Brice, A., Corvol, J‐C, Chartier‐Harlin, M‐C, Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Duga, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Kawamura, Y., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y.J., Kolber, P., Warrenburg, B.P.C., Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Correia Guedes, L., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez‐Fairen, M., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Hellberg, C., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Krüger, R., Gasser, T., Sharma, M., Elbaz, A., Domenighetti, C., Sugier, P‐E, Ashok Kumar Sreelatha, A., Schulte, C., Grover, S., Mohamed, O., Portugal, B., May, P., Bobbili, D.R., Radivojkov‐Blagojevic, M., Lichtner, P., Singleton, A.B., Hernandez, D.G., Edsall, C., Mellick, G.D., Zimprich, A., Pirker, W., Rogaeva, E., Lang, A.E., Kõks, S., Taba, P., Lesage, S., Brice, A., Corvol, J‐C, Chartier‐Harlin, M‐C, Mutez, E., Brockmann, K., Deutschländer, A.B., Hadjigeorgiou, G.M., Dardiotis, E., Stefanis, L., Simitsi, A.M., Valente, E.M., Petrucci, S., Duga, S., Straniero, L., Zecchinelli, A., Pezzoli, G., Brighina, L., Ferrarese, C., Annesi, G., Quattrone, A., Gagliardi, M., Matsuo, H., Kawamura, Y., Hattori, N., Nishioka, K., Chung, S.J., Kim, Y.J., Kolber, P., Warrenburg, B.P.C., Bloem, B.R., Aasly, J., Toft, M., Pihlstrøm, L., Correia Guedes, L., Ferreira, J.J., Bardien, S., Carr, J., Tolosa, E., Ezquerra, M., Pastor, P., Diez‐Fairen, M., Wirdefeldt, K., Pedersen, N.L., Ran, C., Belin, A.C., Puschmann, A., Hellberg, C., Clarke, C.E., Morrison, K.E., Tan, M., Krainc, D., Burbulla, L.F., Farrer, M.J., Krüger, R., Gasser, T., Sharma, M., and Elbaz, A.
Abstract: Background Previous prospective studies highlighted dairy intake as a risk factor for Parkinson's disease (PD), particularly in men. It is unclear whether this association is causal or explained by reverse causation or confounding. Objective The aim is to examine the association between genetically predicted dairy intake and PD using two-sample Mendelian randomization (MR). Methods We genotyped a well-established instrumental variable for dairy intake located in the lactase gene (rs4988235) within the Courage-PD consortium (23 studies; 9823 patients and 8376 controls of European ancestry). Results Based on a dominant model, there was an association between genetic predisposition toward higher dairy intake and PD (odds ratio [OR] per one serving per day = 1.70, 95% confidence interval = 1.12–2.60, P = 0.013) that was restricted to men (OR = 2.50 [1.37–4.56], P = 0.003; P-difference with women = 0.029). Conclusions Using MR, our findings provide further support for a causal relationship between dairy intake and higher PD risk, not biased by confounding or reverse causation. Further studies are needed to elucidate the underlying mechanisms. © 2022 International Parkinson and Movement Disorder Society
Published: 2022

19. Auf den kannst du dich einlassen, der kann dir helfen - die Vertrauensbeziehung zwischen Akustiker/in und schwerhörigen älteren Menschen

Author: Böhme, G, Weber, U, Schlenker-Schulte, C, Schmidt, M, Weber, A, Weber, S, Böhme, G, Weber, U, Schlenker-Schulte, C, Schmidt, M, Weber, A, and Weber, S
Published: 2022

20. Informationen zu Hören und Hörtechnik aus Sicht von älteren schwerhörigen Menschen mit Hörgerät - Ergebnisse aus dem Projekt AutaRK_aktiv hören

Author: Weber, U, Böhme, G, Schlenker-Schulte, C, Schmidt, M, Weber, A, Weber, S, Weber, U, Böhme, G, Schlenker-Schulte, C, Schmidt, M, Weber, A, and Weber, S
Published: 2022

21. Online-Training für junge Menschen zur Traumabewältigung – ist die Umsetzung und Durchführung einer Internet- und Mobilbasierten Intervention zur Aufarbeitung traumatischer Erfahrungen möglich?

Author: Psychology & Digital Mental Health Care, Schulte, C., Psychology & Digital Mental Health Care, and Schulte, C.
Published: 2022

22. Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease

Author: Domenighetti, C. Sugier, P.-E. Sreelatha, A.A.K. Schulte, C. Grover, S. Mohamed, O. Portugal, B. May, P. Bobbili, D.R. Radivojkov-Blagojevic, M. Lichtner, P. Singleton, A.B. Hernandez, D.G. Edsall, C. Mellick, G.D. Zimprich, A. Pirker, W. Rogaeva, E. Lang, A.E. Koks, S. Taba, P. Lesage, S. Brice, A. Corvol, J.-C. Chartier-Harlin, M.-C. Mutez, E. Brockmann, K. Deutschländer, A.B. Hadjigeorgiou, G.M. Dardiotis, E. Stefanis, L. Simitsi, A.M. Valente, E.M. Petrucci, S. Duga, S. Straniero, L. Zecchinelli, A. Pezzoli, G. Brighina, L. Ferrarese, C. Annesi, G. Quattrone, A. Gagliardi, M. Matsuo, H. Kawamura, Y. Hattori, N. Nishioka, K. Chung, S.J. Kim, Y.J. Kolber, P. Van De Warrenburg, B.P.C. Bloem, B.R. Aasly, J. Toft, M. Pihlstrøm, L. Guedes, L.C. Ferreira, J.J. Bardien, S. Carr, J. Tolosa, E. Ezquerra, M. Pastor, P. Diez-Fairen, M. Wirdefeldt, K. Pedersen, N.L. Ran, C. Belin, A.C. Puschmann, A. Hellberg, C. Clarke, C.E. Morrison, K.E. Tan, M. Krainc, D. Burbulla, L.F. Farrer, M.J. Krüger, R. Gasser, T. Sharma, M. Elbaz, A.
Abstract: Background: Previous studies showed that lifestyle behaviors (cigarette smoking, alcohol, coffee) are inversely associated with Parkinson's disease (PD). The prodromal phase of PD raises the possibility that these associations may be explained by reverse causation. Objective: To examine associations of lifestyle behaviors with PD using two-sample Mendelian randomisation (MR) and the potential for survival and incidence-prevalence biases. Methods: We used summary statistics from publicly available studies to estimate the association of genetic polymorphisms with lifestyle behaviors, and from Courage-PD (7,369 cases, 7,018 controls; European ancestry) to estimate the association of these variants with PD. We used the inverse-variance weighted method to compute odds ratios (ORIVW) of PD and 95%confidence intervals (CI). Significance was determined using a Bonferroni-corrected significance threshold (p = 0.017). Results: We found a significant inverse association between smoking initiation and PD (ORIVW per 1-SD increase in the prevalence of ever smoking = 0.74, 95%CI = 0.60-0.93, p = 0.009) without significant directional pleiotropy. Associations in participants =67 years old and cases with disease duration =7 years were of a similar size. No significant associations were observed for alcohol and coffee drinking. In reverse MR, genetic liability toward PD was not associated with smoking or coffee drinking but was positively associated with alcohol drinking. Conclusion: Our findings are in favor of an inverse association between smoking and PD that is not explained by reverse causation, confounding, and survival or incidence-prevalence biases. Genetic liability toward PD was positively associated with alcohol drinking. Conclusions on the association of alcohol and coffee drinking with PD are hampered by insufficient statistical power. © 2022 - IOS Press. All rights reserved.
Published: 2022

23. Long-term Survival and Competing Risks of Death in the ESPATUE Randomized Phase-III Trial in Stage III NSCLC

Author: Eberhardt, Wilfried, Pöttgen, Christoph, Gauler, Thomas, Schulte, C, Friedel, G., Kopp, H.-G., Fischer, B., Schmidberger, H., Kimmich, M., Budach, W., Cordes, S., Metzenmacher, M., de Los Rios, R. Hepp, Spengler, W., De Ruysscher, D., Belka, C., Welter, S., Brintrup, D. Luetke, Guberina, M., Oezkan, F., Darwiche, Kaid, Schuler, Martin, Jöckel, Karl-Heinz, Aigner, Clemens, Stamatis, Georgios, and Stuschke, Martin
Subjects: Medizin
Published: 2022

24. Chronic lymphocytic leukemia-associated chromosomal abnormalities and miRNA deregulation

Author: Kiefer Y, Schulte C, Tiemann M, and Bullerdiek J
Subjects: Medicine (General), R5-920, Genetics, QH426-470
Abstract: Yvonne Kiefer1, Christoph Schulte2, Markus Tiemann2, Joern Bullerdiek11Center for Human Genetics, University of Bremen, Bremen, Germany; 2Hematopathology Hamburg, Hamburg, GermanyAbstract: Chronic lymphocytic leukemia is the most common leukemia in adults. By cytogenetic investigations major subgroups of the disease can be identified that reflect different routes of tumor development. Of these chromosomal deviations, trisomy 12 and deletions of parts of either the long arm of chromosome 13, the long arm of chromosome 11, or the short arm of chromosome 17 are most commonly detected. In some of these aberrations the molecular target has been identified as eg, ataxia telangiectasia mutated (ATM) in case of deletions of chromosomal region 11q22~23 and the genes encoding microRNAs miR-15a/16-1 as likely targets of deletions of chromosomal band 13q14.3. Of note, these aberrations do not characterize independent subgroups but often coexist within the metaphases of one tumor. Generally, complex aberrations are associated with a worse prognosis than simple karyotypic alterations. Due to smaller sizes of the missing segment the detection of recurrent deletions is not always possible by means of classical cytogenetics but requires more advanced techniques as in particular fluorescence in situ hybridization (FISH). Nevertheless, at this time it is not recommended to replace classical cytogenetics by FISH because this would miss additional information given by complex or secondary karyotypic alterations. However, the results of cytogenetic analyses allow the stratification of prognostic and predictive groups of the disease. Of these, the group characterized by deletions involving TP53 is clinically most relevant. In the future refined methods as eg, array-based comparative genomic hybridization will supplement the existing techniques to characterize CLL. Keywords: chronic lymphocytic leukemia, chromosomal abnormality, miRNA deregulation
Published: 2012

25. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

Author: Storm, Catherine S., Kia, Demis A., Almramhi, Mona M., Bandres-Ciga, Sara, Finan, Chris, Noyce, A. J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Houlden, H., Morris, H. R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Quinn, J., Bubb, V., Mok, K. Y., Kinghorn, K. J., Lewis, P., Schreglmann, S. R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K. E., Clarke, C., Harvey, K., Jacobs, B. M., Brice, Alexis, Danjou, F., Lesage, S., Corvol, J. C., Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Schneider, S. A., Cookson, M. R., Blauwendraat, C., Craig, D. W., Billingsley, K., Makarious, M. B., Narendra, D. P., Faghri, F., Gibbs, J. R., Hernandez, D. G., Van Keuren-Jensen, K., Shulman, J. M., Iwaki, H., Leonard, H. L., Nalls, M. A., Robak, L., Bras, J., Guerreiro, R., Lubbe, S., Troycoco, T., Finkbeiner, S., Mencacci, N. E., Lungu, C., Singleton, A. B., Scholz, S. W., Reed, X., Uitti, R. J., Ross, O. A., Grenn, F. P., Moore, A., Alcalay, R. N., Wszolek, Z. K., Gan-Or, Z., Rouleau, G. A., Krohn, L., Mufti, K., van Hilten, J. J., Marinus, J., Adarmes-Gómez, A. D., Aguilar Barberà, Miquel, Álvarez Angulo, Iñaki, Alvarez, V., Barrero, F. J., Yarza, J. A. B., Bernal-Bernal, I., Blázquez Estrada, M, Bonilla-Toribio, M., Botía, J. A., Boungiorno, M. T., Buiza-Rueda, Dolores, Cámara, A., Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, Jordi, Compta, Y., Diez-Fairen, M., Dols-Icardo, Oriol, Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M. J. G., Gonzalez-Aramburu, I., Pagola, A. G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, Jaime, Labrador-Espinosa, M. A., Lopez-Sendon, J. L., de Munain Arregui, A. L., Macias, D., Torres, I. M., Marín, J., Marti, M. J., Martínez-Castrillo, J. C., Méndez-del-Barrio, C., González, M. M., Mata, M., Mínguez, A., Mir, P., Rezola, E. M., Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F. P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A. S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, Lydia, Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Taba, P., Koks, S., Hassin-Baer, S., Majamaa, K., Siitonen, A., Tienari, P., Okubadejo, N. U., Ojo, O. O., Shashkin, C., Zharkinbekova, N., Akhmetzhanov, V., Kaishybayeva, G., Karimova, A., Khaibullin, T., Lynch, T. L., Hingorani, Aroon, Wood, Nicholas W.., Universitat Autònoma de Barcelona, Rosetrees Trust, John Black Charitable Foundation, University College London, King Abdulaziz University, National Institute for Health Research (UK), Universidad de Cantabria, HUS Neurocenter, Department of Neurosciences, and Clinicum
Subjects: Aging, Science, Quantitative Trait Loci, General Physics and Astronomy, Neurodegenerative, 3124 Neurology and psychiatry, General Biochemistry, Genetics and Molecular Biology, Article, Cohort Studies, Risk Factors, Genetics research, Genetics, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Aetiology, Multidisciplinary, Genome, Parkinson's Disease, Genome, Human, Prevention, 3112 Neurosciences, Neurosciences, Brain, Genetic Variation, Parkinson Disease, General Chemistry, Mendelian Randomization Analysis, International Parkinson’s Disease Genomics Consortium, Brain Disorders, Good Health and Well Being, Gene Expression Regulation, Neurology, 5.1 Pharmaceuticals, Case-Control Studies, Neurological, Disease Progression, Development of treatments and therapeutic interventions, Human, Biotechnology
Abstract: Parkinson’s disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson’s disease. We use expression and protein quantitative trait loci to mimic exposure to medications, and we examine the causal effect on Parkinson’s disease risk (in two large cohorts), age at onset and progression. We propose 23 drug-targeting mechanisms for Parkinson’s disease, including four possible drug repurposing opportunities and two drugs which may increase Parkinson’s disease risk. Of these, we put forward six drug targets with the strongest Mendelian randomization evidence. There is remarkably little overlap between our drug targets to reduce Parkinson’s disease risk versus progression, suggesting different molecular mechanisms. Drugs with genetic support are considerably more likely to succeed in clinical trials, and we provide compelling genetic evidence and an analysis pipeline to prioritise Parkinson’s disease drug development., There is currently no disease-modifying treatment for Parkinson’s disease, a common neurodegenerative disorder. Here, the authors use genetic variation associated with gene and protein expression to find putative drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome.
Published: 2021

26. Modelling rhizobial metabolism in rhizobium-legume symbioses

Author: Schulte, C, Huang, W, Kopriva, S, Papachristodoulou, A, and Poole, P
Subjects: Nitrogen-fixing microorganisms, Plants
Abstract: In this work, metabolic modelling approaches were combined with experimental datasets to elucidate rhizobial metabolism in rhizobium-legume interactions. First, a genome-scale metabolic model for Rhizobium leguminosarum bv. viciae 3841 (Rlv3841) was reconstructed and validated. Integration of transcriptome, proteome, metabolome and gene essentiality data was performed to obtain models specific to rhizosphere bacteria, undifferentiated nodule bacteria and nitrogen-fixing bacteroids. Analysis of these models revealed the importance of leucine, polyphosphate and AICAR synthesis in the rhizosphere and indicated that myo-inositol catabolism is specifically active in undifferentiated nodule bacteria. The bacteroid model predicted active synthesis of histidine as well as uptake of a pentose sugar in addition to dicarboxylates, which are the main carbon sources for bacteroids. Next, a reduced model of bacteroid metabolism was obtained using experimental datasets for Rlv3841. Computational methods that do not require the specification of nutrient uptake rates were applied to investigate properties of bacteroid metabolism based on a minimum number of assumptions. Analysing the effect of oxygen availability on central carbon and nitrogen metabolism suggested that both carbon polymer synthesis and amino acid secretion by bacteroids function to facilitate carbon and redox balance under the microaerobic conditions required for nitrogen fixation. The model further predicted that low oxygen levels restrict flux through the decarboxylating tricarboxylic acid cycle arm, which would limit ammonia assimilation by bacteroids and thus constitute a fundamental prerequisite for a productive symbiosis. Model predictions were supported by experimental measurements of oxygen uptake rates and NADH/NAD+ ratios as well as metabolic flux analysis. Finally, a comparison of bacteroid metabolism for different rhizobial strains was performed to evaluate differences and similarities of symbioses between Rhizobium and Sinorhizobium strains and various host plants. Genome-scale metabolic models for six different rhizobium-legume symbioses were reconstructed and reconciled, and bacteroid models were obtained through integration of gene expression data. The models were able to correctly identify strain- and symbiosis-specific differences in the pathways that are used for pyruvate synthesis. In addition, significantly lower metabolic activity and symbiotic efficiency were predicted for reversibly differentiated bacteroids compared to terminally differentiated bacteroids, which is consistent with experimental evidence.
Published: 2021

27. Genetic basis of Parkinson's disease: inheritance, penetrance, and expression

Author: Schulte C and Gasser T
Subjects: Medicine (General), R5-920, Genetics, QH426-470
Abstract: Claudia Schulte, Thomas GasserDepartment of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases, Tübingen, GermanyAbstract: Parkinson's disease can be caused by rare familial genetic mutations, but in most cases it is likely to result from an interaction between multiple genetic and environmental risk factors. Over recent years, many variants in a growing number of genes involved in the pathogenesis of Parkinson's disease have been identified. Mutations in several genes have been shown to cause familial parkinsonism. In this review, we discuss 12 of them (SNCA, LRRK2, Parkin, PINK1, DJ1, ATP13A2, PLA2G6, FBXO7, UCHL1, GIGYF2, HTRA2, and EIF4G1). Additionally, six genes have been shown conclusively to be risk factors for sporadic Parkinson's disease, and are also discussed (GBA, MAPT, BST1, PARK16, GAK, and HLA). Many more genes and genetic loci have been suggested, but need confirmation. There is evidence that pathways involved in the rare familial forms also play a role in the sporadic form, and that the respective genes might also be risk factors for sporadic Parkinson's disease. The identification of genes involved in the development of Parkinson's disease will improve our understanding of the underlying molecular mechanisms, and will hopefully lead to new drug targets and treatment strategies.Keywords: Parkinson's disease, genetics, SNCA, LRRK2, GBA, MAPT
Published: 2011

28. Investigation of autosomal genetic sex differences in Parkinson’s disease

Author: Blauwendraat, C. (Cornelis), Iwaki, H. (Hirotaka), Makarious, M. B. (Mary B.), Bandres-Ciga, S. (Sara), Leonard, H. L. (Hampton L.), Grenn, F. P. (Francis P.), Lake, J. (Julie), Krohn, L. (Lynne), Tan, M. (Manuela), Kim, J. J. (Jonggeol J.), Gibbs, J. R. (Jesse R.), Hernandez, D. G. (Dena G.), Ruskey, J. A. (Jennifer A.), Pihlstrom, L. (Lasse), Toft, M. (Mathias), van Hilten, J. J. (Jacobus J.), Marinus, J. (Johan), Schulte, C. (Claudia), Brockmann, K. (Kathrin), Sharma, M. (Manu), Siitonen, A. (Ari), Majamaa, K. (Kari), Eerola-Rautio, J. (Johanna), Tienari, P. J. (Pentti J.), Grosset, D. G. (Donald G.), Lesage, S. (Suzanne), Corvol, J.-C. (Jean-Christophe), Brice, A. (Alexis), Wood, N. (Nick), Hardy, J. (John), Gan-Or, Z. (Ziv), Heutink, P. (Peter), Gasser, T. (Thomas), Morris, H. R. (Huw R.), Noyce, A. J. (Alastair J.), Nalls, M. A. (Mike A.), and Singleton, A. B. (Andrew B.)
Abstract: Objective: Parkinson’s disease (PD) is a complex neurodegenerative disorder. Men are on average similar to 1.5 times more likely to develop PD compared to women with European ancestry. Over the years, genomewide association studies (GWAS) have identified numerous genetic risk factors for PD, however, it is unclear whether genetics contribute to disease etiology in a sex-specific manner. Methods: In an effort to study sex-specific genetic factors associated with PD, we explored 2 large genetic datasets from the International Parkinson’s Disease Genomics Consortium and the UK Biobank consisting of 13,020 male PD cases, 7,936 paternal proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases, and 90,662 female controls. We performed GWAS meta-analyses to identify distinct patterns of genetic risk contributing to disease in male versus female PD cases. Results: In total, 19 genomewide significant regions were identified and no sex-specific effects were observed. A high genetic correlation between the male and female PD GWAS were identified (rg = 0.877) and heritability estimates were identical between male and female PD cases (similar to 20%). Interpretation: We did not detect any significant genetic differences between male or female PD cases. Our study does not support the notion that common genetic variation on the autosomes could explain the difference in prevalence of PD between males and females cases at least when considering the current sample size under study. Further studies are warranted to investigate the genetic architecture of PD explained by X and Y chromosomes and further evaluate environmental effects that could potentially contribute to PD etiology in male versus female patients.
Published: 2021

29. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Author: Blauwendraat, C, Iwaki, H, Makarious, MB, Bandres-Ciga, S, Leonard, HL, Grenn, FP, Lake, J, Krohn, L, Tan, M, Kim, JJ, Gibbs, JR, Hernandez, DG, Ruskey, JA, Pihlstrom, L, Toft, M, van Hilten, JJ, Marinus, J, Schulte, C, Brockmann, K, Sharma, M, Siitonen, A, Majamaa, K, Eerola-Rautio, J, Tienari, PJ, Grosset, DG, Lesage, S, Corvol, JC, Brice, A, Wood, N, Hardy, J, Gan-Or, Z, Heutink, P, Gasser, T, Morris, HR, Noyce, AJ, Nalls, MA, Singleton, AB, Clarimón J., Dols-Icardo, O, Kulisevsky J., Pagonabarraga, J, and Int Parkinsons Dis Genomics Consor
Abstract: Objective: Parkinson's disease (PD) is a complex neurodegenerative disorder. Men are on average similar to 1.5 times more likely to develop PD compared to women with European ancestry. Over the years, genomewide association studies (GWAS) have identified numerous genetic risk factors for PD, however, it is unclear whether genetics contribute to disease etiology in a sex-specific manner. Methods: In an effort to study sex-specific genetic factors associated with PD, we explored 2 large genetic datasets from the International Parkinson's Disease Genomics Consortium and the UK Biobank consisting of 13,020 male PD cases, 7,936 paternal proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases, and 90,662 female controls. We performed GWAS meta-analyses to identify distinct patterns of genetic risk contributing to disease in male versus female PD cases. Results: In total, 19 genomewide significant regions were identified and no sex-specific effects were observed. A high genetic correlation between the male and female PD GWAS were identified (rg = 0.877) and heritability estimates were identical between male and female PD cases (similar to 20%). Interpretation: We did not detect any significant genetic differences between male or female PD cases. Our study does not support the notion that common genetic variation on the autosomes could explain the difference in prevalence of PD between males and females cases at least when considering the current sample size under study. Further studies are warranted to investigate the genetic architecture of PD explained by X and Y chromosomes and further evaluate environmental effects that could potentially contribute to PD etiology in male versus female patients.
Published: 2021

30. A Novel SNCA A30G Mutation Causes Familial Parkinsonʼs Disease

Author: Liu, H. Koros, C. Strohäker, T. Schulte, C. Bozi, M. Varvaresos, S. Ibáñez de Opakua, A. Simitsi, A.M. Bougea, A. Voumvourakis, K. Maniati, M. Papageorgiou, S.G. Hauser, A.-K. Becker, S. Zweckstetter, M. Stefanis, L. Gasser, T.
Abstract: Background: The SNCA gene encoding α-synuclein (αSyn) is the first gene identified to cause autosomal-dominant Parkinsonʼs disease (PD). Objective: We report the identification of a novel heterozygous A30G mutation of the SNCA gene in familial PD and describe clinical features of affected patients, genetic findings, and functional consequences. Methods: Whole exome sequencing was performed in the discovery family proband. Restriction digestion with Bbvl was used to screen SNCA A30G in two validation cohorts. The Greek cohort included 177 familial PD probands, 109 sporadic PD cases, and 377 neurologically healthy controls. The German cohort included 136 familial PD probands, 380 sporadic PD cases, and 116 neurologically healthy controls. We also conducted haplotype analysis using 13 common single nucleotide variants around A30G to determine the possibility of a founder effect for A30G. We then used biophysical methods to characterize A30G αSyn. Results: We identified a novel SNCA A30G (GRCh37, Chr4:90756730, c.89 C>G) mutation that co-segregated with the disease in five affected individuals of three Greek families and was absent from controls. A founder effect was strongly suggested by haplotype analysis. The A30G mutation had a local effect on the intrinsically disordered structure of αSyn, slightly perturbed membrane binding, and promoted fibril formation. Conclusion: Based on the identification of A30G co-segregating with the disease in three families, the absence of the mutation in controls and population databases, and the observed functional effects, we propose SNCA A30G as a novel causative mutation for familial PD. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Published: 2021

31. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

Author: Chen, Z., Zhang, D., Reynolds, R.H., Gustavsson, E.K., García-Ruiz, S., D'Sa, K., Fairbrother-Browne, A., Vandrovcova, J., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Kia, D.A., Tan, M., Morris, H.R., Plun-Favreau, H., Holmans, P., Trabzuni, D., Bras, J., Quinn, J., Mok, K.Y., Kinghorn, K.J., Billingsley, K., Wood, N.W., Lewis, P., Schreglmann, S., Guerreiro, Rita, Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Brice, A., Danjou, F., Lesage, S., Corvol, Jean-Christophe, Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M. R, Bandres-Ciga, S., Blauwendraat, Cornelis, Craig, David W, Faghri, F., Gibbs, J.R., Hernandez, D.G., Van Keuren-Jensen, K., Shulman, J.M., Leonard, H.L., Nalls, M.A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N.E., Lungu, C., Singleton, A. B., Scholz, S.W., Reed, X., Alcalay, Roy N, Gan-Or, Z., Rouleau, G.A., Krohn, L., van Hilten, J.J., Marinus, J., Adarmes-Gómez, A.D, Aguilar Barberà, Miquel, Alvarez, Ignacio, Alvarez, V., Barrero, F. J, Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, Marta, Botía, J., Boungiorno, M.T., Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, M., Dols Icardo, Oriol, Duarte, J., Duran, Raquel, Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, J.L., de Munain Arregui, A.L., Macias, D., Torres, I.M., Marín, J., Marti, M.J., Martínez-Castrillo, J.C., Méndez-del-Barrio, C., González, M.M., Mata, M., Mínguez, A., Mir, P., Rezola, E.M., Muñoz, E., Pagonabarraga Mora, Javier, Pastor, P., Errazquin, F.P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, Alexander, Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Hardy, J., Houlden, Henry, Gagliano Taliun, S. A., Ryten, M., Universitat Autònoma de Barcelona, Universidad de Cantabria, Lord Leonard and Lady Estelle Wolfson Foundation, Medical Research Council (UK), Dementia Research Institute (UK), Alzheimer Society, Alzheimer's Research UK, Wellcome Trust, Dolby Family Fund, National Institute for Health Research (UK), NIHR Biomedical Research Centre (UK), Agencia Estatal de Investigación (España), Fundación Séneca, and Gobierno de la Región de Murcia
Subjects: 0301 basic medicine, Apolipoprotein E, Aging, Messenger, General Physics and Astronomy, Neurodegenerative, Alzheimer's Disease, Genome, Linkage Disequilibrium, Negative selection, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, health care economics and organizations, Conserved Sequence, Phylogeny, Multidisciplinary, Brain, Neurodegenerative Diseases, Single Nucleotide, Alzheimer's disease, Phenotype, International Parkinson’s Disease Genomics Consortium, Neurological, Regression Analysis, Long Noncoding, DNA, Intergenic, RNA, Long Noncoding, Human, Biotechnology, Lineage (genetic), Science, 1.1 Normal biological development and functioning, Computational biology, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, Chromosomes, 03 medical and health sciences, Apolipoproteins E, Underpinning research, Alzheimer Disease, Genetic variation, Genetics, Acquired Cognitive Impairment, Humans, RNA, Messenger, Polymorphism, Gene, Whole genome sequencing, Intergenic, Pair 19, Genome, Human, Human Genome, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Molecular Sequence Annotation, General Chemistry, DNA, Introns, Brain Disorders, 030104 developmental biology, Gene Ontology, RNA, Dementia, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery
Abstract: Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. We propose that these constrained, non-conserved regions (CNCRs) have been subject to human-specific purifying selection and are enriched for brain-specific elements. We find that CNCRs are depleted from protein-coding genes but enriched within lncRNAs. We demonstrate that per-SNP heritability of a range of brain-relevant phenotypes are enriched within CNCRs. We find that genes implicated in neurological diseases have high CNCR density, including APOE, highlighting an unannotated intron-3 retention event. Using human brain RNA-sequencing data, we show the intron-3-retaining transcript to be more abundant in Alzheimer’s disease with more severe tau and amyloid pathological burden. Thus, we demonstrate potential association of human-lineage-specific sequences in brain development and neurological disease., Knowledge of genomic features specific to humans may be important for understanding disease. Here the authors demonstrate a potential role for these human-lineage-specific sequences in brain development and neurological disease.
Published: 2021

32. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

Author: Leonard H, Lake J, Kim JJ, Gibbs JR, Ruskey JA, Pihlstrøm L, Eerola-Rautio J, Tienari PJ, Grosset DG, Wood N, Noyce AJ, Middlehurst B, Kia DA, Tan M, Houlden H, Storm CS, Morris HR, Plun-Favreau H, Holmans P, Hardy J, Trabzuni D, Quinn J, Bubb V, Mok KY, Kinghorn KJ, Wood NW, Lewis P, Schreglmann SR, Lovering R, R'Bibo L, Manzoni C, Rizig M, Ryten M, Guelfi S, Escott-Price V, Chelban V, Foltynie T, Williams N, Morrison KE, Clarke C, Harvey K, Jacobs BM, Brice A, Danjou F, Lesage S, Corvol JC, Martinez M, Schulte C, Brockmann K, Simón-Sánchez J, Heutink P, Rizzu P, Sharma M, Gasser T, Schneider SA, Cookson MR, Bandres-Ciga S, Blauwendraat C, Craig DW, Billingsley K, Makarious MB, Narendra DP, Faghri F, Hernandez DG, Van Keuren-Jensen K, Shulman JM, Iwaki H, Leonard HL, Nalls MA, Robak L, Bras J, Guerreiro R, Lubbe S, Troycoco T, Finkbeiner S, Mencacci NE, Lungu C, Singleton AB, Scholz SW, Reed X, Uitti RJ, Ross OA, Grenn FP, Moore A, Alcalay RN, Wszolek ZK, Gan-Or Z, Rouleau GA, Krohn L, Mufti K, van Hilten JJ, Marinus J, Adarmes-Gómez AD, Aguilar M, Alvarez I, Alvarez V, Barrero FJ, Yarza JAB, Bernal-Bernal I, Blazquez M, Bonilla-Toribio M, Botía JA, Boungiorno MT, Buiza-Rueda D, Cámara A, Carrillo F, Carrión-Claro M, Cerdan D, Clarimón J, Compta Y, Diez-Fairen M, Dols-Icardo O, Duarte J, Duran R, Escamilla-Sevilla F, Ezquerra M, Feliz C, Fernández M, Fernández-Santiago R, Garcia C, García-Ruiz P, Gómez-Garre P, Heredia MJG, Gonzalez-Aramburu I, Pagola AG, Hoenicka J, Infante J, Jesús S, Jimenez-Escrig A, Kulisevsky J, Labrador-Espinosa MA, Lopez-Sendon JL, de Munain Arregui AL, Macias D, Torres IM, Marín J, Marti MJ, Martínez-Castrillo JC, Méndez-Del-Barrio C, González MM, Mata M, Mínguez A, Mir P, Rezola EM, Muñoz E, Pagonabarraga J, Pastor P, Errazquin FP, Periñán-Tocino T, Ruiz-Martínez J, Ruz C, Rodriguez AS, Sierra M, Suarez-Sanmartin E, Tabernero C, Tartari JP, Tejera-Parrado C, Tolosa E, Valldeoriola F, Vargas-González L, Vela L, Vives F, Zimprich A, Pihlstrom L, Toft M, Taba P, Koks S, Hassin-Baer S, Majamaa K, Siitonen A, Tienari P, Okubadejo NU, Ojo OO, Kaiyrzhanov R, Shashkin C, Zharkinbekova N, Akhmetzhanov V, Kaishybayeva G, Karimova A, Khaibullin T, Lynch TL, and International Parkinson's Disease Genomics Consortium (IPDGC)
Abstract: OBJECTIVE: Parkinson's disease (PD) is a complex neurodegenerative disorder. Men are on average ~ 1.5 times more likely to develop PD compared to women with European ancestry. Over the years, genomewide association studies (GWAS) have identified numerous genetic risk factors for PD, however, it is unclear whether genetics contribute to disease etiology in a sex-specific manner. METHODS: In an effort to study sex-specific genetic factors associated with PD, we explored 2 large genetic datasets from the International Parkinson's Disease Genomics Consortium and the UK Biobank consisting of 13,020 male PD cases, 7,936 paternal proxy cases, 89,660 male controls, 7,947 female PD cases, 5,473 maternal proxy cases, and 90,662 female controls. We performed GWAS meta-analyses to identify distinct patterns of genetic risk contributing to disease in male versus female PD cases. RESULTS: In total, 19 genomewide significant regions were identified and no sex-specific effects were observed. A high genetic correlation between the male and female PD GWAS were identified (rg = 0.877) and heritability estimates were identical between male and female PD cases (~ 20%). INTERPRETATION: We did not detect any significant genetic differences between male or female PD cases. Our study does not support the notion that common genetic variation on the autosomes could explain the difference in prevalence of PD between males and females cases at least when considering the current sample size under study. Further studies are warranted to investigate the genetic architecture of PD explained by X and Y chromosomes and further evaluate environmental effects that could potentially contribute to PD etiology in male versus female patients. ANN NEUROL 2021;90:41-48.
Published: 2021

33. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Author: Chia, R, Sabir, MS, Bandres-Ciga, S, Saez-Atienzar, S, Reynolds, RH, Gustavsson, E, Walton, RL, Ahmed, S, Viollet, C, Ding, JH, Makarious, MB, Diez-Fairen, M, Portley, MK, Shah, Z, Abramzon, Y, Hernandez, DG, Blauwendraat, C, Stone, DJ, Eicher, J, Parkkinen, L, Ansorge, O, Clark, L, Honig, LS, Marder, K, Lemstra, A, St George-Hyslop, P, Londos, E, Morgan, K, Lashley, T, Warner, TT, Jaunmuktane, Z, Galasko, D, Santana, I, Tienari, PJ, Myllykangas, L, Oinas, M, Cairns, NJ, Morris, JC, Halliday, GM, Van Deerlin, VM, Trojanowski, JQ, Grassano, M, Calvo, A, Mora, G, Canosa, A, Floris, G, Bohannan, RC, Brett, F, Gan-Or, Z, Geiger, JT, Moore, A, May, P, Kruger, R, Goldstein, DS, Lopez, G, Tayebi, N, Sidransky, E, Norcliffe-Kaufmann, L, Palma, JA, Kaufmann, H, Shakkottai, VG, Perkins, M, Newell, KL, Gasser, T, Schulte, C, Landi, F, Salvi, E, Cusi, D, Masliah, E, Kim, RC, Caraway, CA, Monuki, ES, Brunetti, M, Dawson, TM, Rosenthal, LS, Albert, MS, Pletnikova, O, Troncoso, JC, Flanagan, ME, Mao, QW, Bigio, EH, Rodriguez-Rodriguez, E, Infante, J, Lage, C, Gonzalez-Aramburu, I, Sanchez-Juan, P, Ghetti, B, Keith, J, Black, SE, Masellis, M, Rogaeva, E, Duyckaerts, C, Brice, A, Lesage, S, Xiromerisiou, G, Barrett, MJ, Tilley, BS, Gentleman, S, Logroscino, G, Serrano, GE, Beach, TG, McKeith, IG, Thomas, AJ, Attems, J, Morris, CM, Palmer, L, Love, S, Troakes, C, Al-Sarraj, S, Hodges, AK, Aarsland, D, Klein, G, Kaiser, SM, Woltjer, R, Pastor, P, Bekris, LM, Leverenz, JB, Besser, LM, Kuzma, A, Renton, AE, Goate, A, Bennett, DA, Scherzer, CR, Morris, HR, Ferrari, R, Albani, D, Pickering-Brown, S, Faber, K, Kukull, WA, Morenas-Rodriguez, E, Lleo, A, Fortea, J, Alcolea, D, Clarimon, J, Nalls, MA, Ferrucci, L, Resnick, SM, Tanaka, T, Foroud, TM, Graff-Radford, NR, Wszolek, ZK, Ferman, T, Boeve, BF, Hardy, JA, Topol, EJ, Torkamani, A, Singleton, AB, Ryten, M, Dickson, DW, Chio, A, Ross, OA, Gibbs, JR, Dalgard, CL, Traynor, BJ, Scholz, SW, and Amer Genome Ctr
Subjects: hormones, hormone substitutes, and hormone antagonists
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
Published: 2021

34. Reproduction for Insight: Towards Better Understanding the Quality of Students Tests

Author: Schulte, C., Lawende, M., Passir, H., Alpar, G., Schulte, C., Lawende, M., Passir, H., and Alpar, G.
Abstract: ITiCSE '21, Contains fulltext : 245271.pdf (Publisher’s version ) (Closed access)
Published: 2021

35. ITiCSE '21: Proceedings of the 26th ACM Conference on Innovation and Technology in Computer Science Education. Volume 1

Author: Schulte, C., Becker, B.A., Divitini, M., Barendsen, E., Schulte, C., Becker, B.A., Divitini, M., and Barendsen, E.
Abstract: ITiCSE ’21, Item does not contain fulltext
Published: 2021

36. ITiCSE '21: Proceedings of the 26th ACM Conference on Innovation and Technology in Computer Science Education. Volume 2

Author: Schulte, C., Becker, B.A., Divitini, M., Barendsen, E., Schulte, C., Becker, B.A., Divitini, M., and Barendsen, E.
Abstract: ITiCSE '21, Item does not contain fulltext
Published: 2021

37. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

Author: Storm, C.S., Kia, D.A., Almramhi, M.M., Bandrés-Ciga, S., Finan, C., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Houlden, H., Morris, H.R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Quinn, J., Bubb, V., Mok, K.Y., Kinghorn, K.J., Lewis, P., Schreglmann, S.R., Lovering, R., R’Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K.E., Clarke, C., Harvey, K., Jacobs, B.M., Brice, A., Danjou, F., Lesage, S., Corvol, J-C, Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Schneider, S.A., Cookson, M.R., Blauwendraat, C., Craig, D.W., Billingsley, K., Makarious, M.B., Narendra, D.P., Faghri, F., Gibbs, J.R., Hernandez, D.G., Van Keuren-Jensen, K., Shulman, J.M., Iwaki, H., Leonard, H.L., Nalls, M.A., Robak, L., Bras, J., Guerreiro, R., Lubbe, S., Troycoco, T., Finkbeiner, S., Mencacci, N.E., Lungu, C., Singleton, A.B., Scholz, S.W., Reed, X., Uitti, R.J., Ross, O.A., Grenn, F.P., Moore, A., Alcalay, R.N., Wszolek, Z.K., Gan-Or, Z., Rouleau, G.A., Krohn, L., Mufti, K., van Hilten, J.J., Marinus, J., Adarmes-Gómez, A.D., Aguilar, M., Alvarez, I., Alvarez, V., Barrero, F.J., Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, M., Botía, J.A., Boungiorno, M.T., Buiza-Rueda, D., Cámara, A., Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, J., Compta, Y., Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M.A., Lopez-Sendon, J.L., de Munain Arregui, A.L., Macias, D., Torres, I.M., Marín, J., Marti, M.J., Martínez-Castrillo, J.C., Méndez-del-Barrio, C., González, M.M., Mata, M., Mínguez, A., Mir, P., Rezola, E.M., Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F.P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J.P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Taba, P., Kõks, S., Hassin-Baer, S., Majamaa, K., Siitonen, A., Tienari, P., Okubadejo, N.U., Ojo, O.O., Shashkin, C., Zharkinbekova, N., Akhmetzhanov, V., Kaishybayeva, G., Karimova, A., Khaibullin, T., Lynch, T.L., Hingorani, A.D., Wood, N.W., Storm, C.S., Kia, D.A., Almramhi, M.M., Bandrés-Ciga, S., Finan, C., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Houlden, H., Morris, H.R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Quinn, J., Bubb, V., Mok, K.Y., Kinghorn, K.J., Lewis, P., Schreglmann, S.R., Lovering, R., R’Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K.E., Clarke, C., Harvey, K., Jacobs, B.M., Brice, A., Danjou, F., Lesage, S., Corvol, J-C, Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Schneider, S.A., Cookson, M.R., Blauwendraat, C., Craig, D.W., Billingsley, K., Makarious, M.B., Narendra, D.P., Faghri, F., Gibbs, J.R., Hernandez, D.G., Van Keuren-Jensen, K., Shulman, J.M., Iwaki, H., Leonard, H.L., Nalls, M.A., Robak, L., Bras, J., Guerreiro, R., Lubbe, S., Troycoco, T., Finkbeiner, S., Mencacci, N.E., Lungu, C., Singleton, A.B., Scholz, S.W., Reed, X., Uitti, R.J., Ross, O.A., Grenn, F.P., Moore, A., Alcalay, R.N., Wszolek, Z.K., Gan-Or, Z., Rouleau, G.A., Krohn, L., Mufti, K., van Hilten, J.J., Marinus, J., Adarmes-Gómez, A.D., Aguilar, M., Alvarez, I., Alvarez, V., Barrero, F.J., Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, M., Botía, J.A., Boungiorno, M.T., Buiza-Rueda, D., Cámara, A., Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, J., Compta, Y., Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M.A., Lopez-Sendon, J.L., de Munain Arregui, A.L., Macias, D., Torres, I.M., Marín, J., Marti, M.J., Martínez-Castrillo, J.C., Méndez-del-Barrio, C., González, M.M., Mata, M., Mínguez, A., Mir, P., Rezola, E.M., Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F.P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J.P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Taba, P., Kõks, S., Hassin-Baer, S., Majamaa, K., Siitonen, A., Tienari, P., Okubadejo, N.U., Ojo, O.O., Shashkin, C., Zharkinbekova, N., Akhmetzhanov, V., Kaishybayeva, G., Karimova, A., Khaibullin, T., Lynch, T.L., Hingorani, A.D., and Wood, N.W.
Abstract: Parkinson’s disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian randomization to investigate over 3,000 genes that encode druggable proteins and predict their efficacy as drug targets for Parkinson’s disease. We use expression and protein quantitative trait loci to mimic exposure to medications, and we examine the causal effect on Parkinson’s disease risk (in two large cohorts), age at onset and progression. We propose 23 drug-targeting mechanisms for Parkinson’s disease, including four possible drug repurposing opportunities and two drugs which may increase Parkinson’s disease risk. Of these, we put forward six drug targets with the strongest Mendelian randomization evidence. There is remarkably little overlap between our drug targets to reduce Parkinson’s disease risk versus progression, suggesting different molecular mechanisms. Drugs with genetic support are considerably more likely to succeed in clinical trials, and we provide compelling genetic evidence and an analysis pipeline to prioritise Parkinson’s disease drug development.
Published: 2021

38. 2388P Split-dose cisplatin plus gemcitabine use and associated clinical outcomes in the first-line (1L) treatment of locally advanced or metastatic urothelial cancer (la/mUC): Results of a retrospective observational study in Germany (CONVINCE)

Author: Schlack, K., Kubin, T., Ruhnke, M., Schulte, C., Machtens, S., Eisen, A., Osowski, U., Guenther, S., Kearney, M., Lipp, R., and Schmitz, S.
Published: 2023
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39. P157Humoral transfer of remote ischemic preconditioning′s protection from donor pigs in vivo to an in in vitro bioassay of isolated perfused recipient rat hearts

Author: Skyschally, A, Schulte, C, Heusch, G, and Kleinbongard, P
Published: 2014
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40. Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma

Author: Metzgeroth, G, Walz, C, Score, J, Siebert, R, Schnittger, S, Haferlach, C, Popp, H, Haferlach, T, Erben, P, Mix, J, Müller, M C, Beneke, H, Müller, L, Del Valle, F, Aulitzky, W E, Wittkowsky, G, Schmitz, N, Schulte, C, Müller-Hermelink, K, Hodges, E, Whittaker, S J, Diecker, F, Döhner, H, Schuld, P, Hehlmann, R, Hochhaus, A, Cross, N C P, and Reiter, A
Published: 2007
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41. Fostering Program Comprehension in Novice Programmers - Learning Activities and Learning Trajectories

Author: Izu, C., Schulte, C., Aggarwal, A., Cutts, Q., Duran, R., Gutica, M., Heinemann, B., Kraemer, E., Lonati, V., Mirolo, C., Weeda, R.E., Rössling, G., and Rössling, G.
Subjects: Sequence, novice programmers, Computer science, Process (engineering), media_common.quotation_subject, Program comprehension, Matrix (music), Department of Science Education, Code (semiotics), Task (project management), program comprehension, learning trajectories, CS1, novice programmers, K-12 computing, program comprehension, Debugging, Science Education, K-12 computing, Key (cryptography), Mathematics education, learning trajectories, CS1, media_common
Abstract: This working group asserts that Program Comprehension (ProgComp) plays a critical part in the process of writing programs. For example, this paper is written from a basic draft that was edited and revised until it clearly presented our idea. Similarly, a program is written incrementally, with each step tested, debugged and extended until the program achieves its goal. Novice programmers should develop program comprehension skills as they learn to code so that they are able both to read and reason about code created by others, and to reflect on their code when writing, debugging or extending it. To foster such competencies our group identified two main goals: (g1) to collect and define learning activities that explicitly address key components of program comprehension and (g2) to define tentative theoretical learning trajectories that will guide teachers as they select and sequence those learning activities in their CS0/CS1/CS2 or K-12 courses.The WG has completed the first goal and laid down a strong foundation towards the second goal as presented in this report. After a thorough literature review, a detailed description of the Block Model is provided, as this model has been used with a dual purpose, to classify and present an extensive list of ProgComp tasks, and to describe a possible learning trajectory for a complex task, covering different cells of the Block Model matrix. The latter is intended to help instructors to decompose complex tasks and identify which aspects of ProgComp are being fostered.
Published: 2020

42. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

Author: Guelfi S., D’Sa K., Botía J.A., Vandrovcova J., Reynolds R.H., Zhang D., Trabzuni D., Collado-Torres L., Thomason A., Quijada Leyton P., Gagliano Taliun S.A., Nalls M.A., Noyce A.J., Nicolas A., Cookson M.R., Bandres-Ciga S., Gibbs J.R., Hernandez D.G., Singleton A.B., Reed X., Leonard H., Blauwendraat C., Faghri F., Bras J., Guerreiro R., Tucci A., Kia D.A., Houlden H., Plun-Favreau H., Mok K.Y., Wood N.W., Lovering R., R’Bibo L., Rizig M., Chelban V., Tan M., Morris H.R., Middlehurst B., Quinn J., Billingsley K., Holmans P., Kinghorn K.J., Lewis P., Escott-Price V., Williams N., Foltynie T., Brice A., Danjou F., Lesage S., Corvol J.-C., Martinez M., Giri A., Schulte C., Brockmann K., Simón-Sánchez J., Heutink P., Gasser T., Rizzu P., Sharma M., Shulman J.M., Robak L., Lubbe S., Mencacci N.E., Finkbeiner S., Lungu C., Scholz S.W., Gan-Or Z., Rouleau G.A., Krohan L., van Hilten J.J., Marinus J., Adarmes-Gómez A.D., Bernal-Bernal I., Bonilla-Toribio M., Buiza-Rueda D., Carrillo F., Carrión-Claro M., Mir P., Gómez-Garre P., Jesús S., Labrador-Espinosa M.A., Macias D., Vargas-González L., Méndez-del-Barrio C., Periñán-Tocino T., Tejera-Parrado C., Diez-Fairen M., Aguilar M., Alvarez I., Boungiorno M.T., Carcel M., Pastor P., Tartari J.P., Alvarez V., González M.M., Blazquez M., Garcia C., Suarez-Sanmartin E., Barrero F.J., Rezola E.M., Yarza J.A.B., Pagola A.G., Arregui A.L.M., Ruiz-Martínez J., Cerdan D., Duarte J., Clarimón J., Dols-Icardo O., Infante J., Marín J., Kulisevsky J., Pagonabarraga J., Gonzalez-Aramburu I., Rodriguez A.S., Sierra M., Duran R., Ruz C., Vives F., Escamilla-Sevilla F., Mínguez A., Cámara A., Compta Y., Ezquerra M., Marti M.J., Fernández M., Muñoz E., Fernández-Santiago R., Tolosa E., Valldeoriola F., García-Ruiz P., Heredia M.J.G., Errazquin F.P., Hoenicka J., Jimenez-Escrig A., Martínez-Castrillo J.C., Lopez-Sendon J.L., Torres I.M., Tabernero C., Vela L., Zimprich A., Pihlstrom L., Koks S., Taba P., Majamaa K., Siitonen A., Okubadejo N.U., Ojo O.O., Forabosco P., Walker R., Small K.S., Smith C., Ramasamy A., Hardy J., Weale M.E., and Ryten M.
Subjects: medicine, RNA splicing, phenotype, brain, genotype, Quantitative Trait Loci, genetic analysis, Polymorphism, Single Nucleotide, Article, genetic regulation, mental disease, transcriptomics, quantitative trait locus, expression quantitative trait locus, single nucleotide polymorphism, Humans, genetics, human, reproducibility, Alleles, Neurons, genome-wide association study, human cell, allele, Putamen, Reproducibility of Results, RNA sequencing, Parkinson Disease, gene expression regulation, cell, cohort analysis, neurologic disease, human tissue, schizophrenia, Substantia Nigra, disease incidence, physiology, gene expression, RNA, physiological response, Nervous System Diseases, nerve cell, Transcriptome, nervous system disorder, basal ganglion
Abstract: Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/. © 2020, The Author(s).
Published: 2020

43. Fostering Program Comprehension in Novice Programmers - Learning Activities and Learning Trajectories

Author: Rössling, G., Izu, C., Schulte, C., Aggarwal, A., Cutts, Q., Duran, R., Gutica, M., Heinemann, B., Kraemer, E., Lonati, V., Mirolo, C., Weeda, R.E., Rössling, G., Izu, C., Schulte, C., Aggarwal, A., Cutts, Q., Duran, R., Gutica, M., Heinemann, B., Kraemer, E., Lonati, V., Mirolo, C., and Weeda, R.E.
Abstract: ITiCSE-WGR '19, Contains fulltext : 225957.pdf (publisher's version ) (Closed access)
Published: 2020

44. Enhancement of executive functions but not memory by multidomain cognitive group training in Parkinson patients with mild cognitive impairment: A multicenter randomized controlled trial

Author: Kalbe, E., Folkerts, A. K., Ophey, A., Eggers, C., Elben, S., Dimenshteyn, K., Sulzer, P., Schulte, C., Schmidt, N., Schlenstedt, C., Berg, D., Witt, K., Wojtecki, L., Liepelt-Scarfone, I., Kalbe, E., Folkerts, A. K., Ophey, A., Eggers, C., Elben, S., Dimenshteyn, K., Sulzer, P., Schulte, C., Schmidt, N., Schlenstedt, C., Berg, D., Witt, K., Wojtecki, L., and Liepelt-Scarfone, I.
Published: 2020

45. Technikbereitschaft älterer Menschen und Hören

Author: Schlenker-Schulte, C, Weber, A, Weber, U, Schlenker-Schulte, C, Weber, A, and Weber, U
Published: 2020

46. Kommunikation hörgeschädigter Menschen am Arbeitsplatz

Author: Schlenker-Schulte, C, Weber, A, and Weber, U
Subjects: ddc: 610, 610 Medical sciences, Medicine
Abstract: Bei jeder Hörstörung sind die elementaren Funktionen des Hörens, wie Orientierung, Alarmierung, Aktivierung und Information beeinträchtigt, was sich auf die Teilhabe am Arbeitsleben auswirkt. Unabhängig vom Zeitpunkt der Hörschädigung, ob von Geburt an oder nach dem[zum vollständigen Text gelangen Sie über die oben angegebene URL], 22. Jahrestagung der Deutschen Gesellschaft für Audiologie
Published: 2019
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47. DNA damage transiently increases TRF2 mRNA expression and telomerase activity

Author: Klapper, W, Qian, W, Schulte, C, and Parwaresch, R
Published: 2003
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48. Imported falciparum malaria in Europe: Sentinel surveillance data from the European network on surveillance of imported infectious diseases. (Major Article)

Author: Jelinek, T., Schulte, C., Behrens, R., Grobusch, M.P., Coulaud, J.P., Bisoffi, Z., Matteelli, A., Clerinx, J., Corachan, M., Puente, S., Gjorup, I., Harms, G., Kollaritsch, H., Kotlowski, A., Bjorkmann, A., Delmont, J.P., Knobloch, J., Nielsen, L.N., Cuadros, J., Hatz, C., Doolittle, Hilda, Schmid, M.L., Schulze, M., Lopez-Velez, R., Fleischer, K., Kapaun, A., McWhinney, P., Kern, P., Atougia, J., Fry, G., Cunha, S. da, and Boecken, G.
Subjects: Europe -- Health aspects, Malaria -- Demographic aspects, Health, Health care industry
Published: 2002

49. Diagnostic significance of blood eosinophilia in returning travelers. (Brief Report)

Author: Schulte, C., Krebs, B., Jelinek, T., Nothdurft, H.D., Sonnenburg, F. von, and Loscher, T.
Subjects: Travel -- Health aspects, Eosinophil disorders -- Diagnosis, Travelers -- Health aspects, Helminthiasis, Health, Health care industry
Published: 2002

50. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

Author: Billingsley, Kimberley J, Barbosa, Ines A, Bandres-Ciga, Sara, Quinn, John P, Bubb, Vivien J, Deshpande, Charu, Botia, Juan A, Reynolds, Regina H, Zhang, David, Simpson, Michael A, Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J Raphael, Nalls, Mike A, Singleton, Andrew, Ryten, Mina, Koks, Sulev, Noyce, A, Tucci, A, Middlehurst, B, Kia, D, Tan, M, Houlden, H, Morris, HR, Plun-Favreau, H, Holmans, P, Hardy, J, Trabzuni, D, Bras, J, Mok, K, Kinghorn, K, Wood, N, Lewis, P, Guerreiro, R, Loverin, R, R'Bibo, L, Rizig, M, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Brice, A, Danjou, F, Lesage, S, Martinez, M, Giri, A, Schulte, C, Brockmann, K, Simon-Sanchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Nicolas, A, Cookson, M, Faghri, F, Hernandez, D, Shulman, J, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, N, Lungu, C, Scholz, S, Reed, X, Leonard, H, Rouleau, G, Krohan, L, van Hilten, J, Marinus, J, Adarmes-Gomez, A, Aguilar, M, Alvarez, I, Alvarez, V, Javier Barrero, F, Bergareche Yarza, J, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio Bernal, M, Boungiorne, M, Buiza-Rueda, Dolores, Camara, A, Carcel, M, Carrillo, F, Carrion-Claro, M, Cerdan, D, Clarimon, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, RI, Escamilla-Sevilla, F, Ezquerra, M, Fernandez, M, Fernandez-Santiago, R, Garcia, C, Garcia-Ruiz, P, Gomez-Garre, P, Gomez Heredia, M, Gonzalez-Aramburu, I, Gorostidi Pagola, A, Hoenicka, J, Infante, J, Jesus, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, M, Lopez-Sendon, J, de Munain Arregui, A Lopez, Macias, D, Martinez Torres, I, Marin, J, Jose Marti, M, Martinez-Castrillo, J, Mendez-del-Barrio, C, Menendez Gonzalez, M, Minguez, A, Mir, P, Mondragon Rezola, E, Munoz, E, Pagonabarraga, J, Pastor, P, Perez Errazquin, F, Perinan-Tocino, T, Ruiz-Martinez, J, Ruz, C, Sanchez Rodriguez, A, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Pablo Tartari, J, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-Gonzalez, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Taba, P, Majamaa, K, Siitonen, A, Okubadejo, N, Ojo, O, IPDGC, and Universidad de Cantabria
Subjects: 0301 basic medicine, Mitochondrial DNA, medicine.medical_specialty, Aging, Parkinson's disease, Mitochondrial disease, Mitochondrion, Biology, Neurodegenerative, Bioinformatics, lcsh:RC346-429, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Mendelian randomization, Mitophagy, medicine, Genetics, 2.1 Biological and endogenous factors, Aetiology, lcsh:Neurology. Diseases of the nervous system, Parkinson's Disease, Medical genetics, Neurosciences, medicine.disease, Brain Disorders, International Parkinson’s Disease Genomics Consortium, 030104 developmental biology, Proteostasis, Neurology, Risk factors, Neurological, Neurology (clinical), Medical genetic, 030217 neurology & neurosurgery
Abstract: Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed the role of mitochondrial function-associated genes in sporadic PD by leveraging improvements in the scale and analysis of PD GWAS data with recent advances in our understanding of the genetics of mitochondrial disease. We calculated a mitochondrial-specific polygenic risk score (PRS) and showed that cumulative small effect variants within both our primary and secondary gene lists are significantly associated with increased PD risk. We further reported that the PRS of the secondary mitochondrial gene list was significantly associated with later age at onset. Finally, to identify possible functional genomic associations we implemented Mendelian randomization, which showed that 14 of these mitochondrial functionassociated genes showed functional consequence associated with PD risk. Further analysis suggested that the 14 identified genes are not only involved in mitophagy, but implicate new mitochondrial processes. Our data suggests that therapeutics targeting mitochondrial bioenergetics and proteostasis pathways distinct from mitophagy could be beneficial to treating the early stage of PD., This work was supported in part by the Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services; project ZO1 AG000949
Published: 2019

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