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1. How reliable is assessment of true vocal cord-arytenoid unit mobility in patients affected by laryngeal cancer? a multi-institutional study on 366 patients from the ARYFIX collaborative group

Author

Ferrari, M., Mularoni, F., Taboni, S., Crosetti, E., Pessina, C., Carobbio, A.L.C., Montalto, N., Marchi, F., Vural, A., Paderno, A., Caprioli, S., Gaudioso, P., Fermi, M., Rigoni, F., Saccardo, T., Contro, G., Ruaro, A., Lo Manto, A., Varago, C., Baldovin, M., Bandolin, L., Filauro, M., Sampieri, C., Missale, F., Ioppi, A., Carta, F., Ramanzin, M., Ravanelli, M., Maiolo, V., Bertotto, I., Del Bon, F., Lancini, D., Mariani, C., Marrosu, V., Tatti, M., Cağlı, S., Yüce, I., Gündoğ, M., Dogan, S., Anile, G., Gottardi, C., Busato, F., Vallin, A., Gennarini, F., Bossi, P., Ghi, M.G., Lionello, M., Zanoletti, E., Marioni, G., Maroldi, R., Mattioli, F., Puxeddu, R., Bertolin, A., Presutti, L., Piazza, C., Succo, G., Peretti, G., and Nicolai, P.

Published
2024
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2. Corrigendum to “How reliable is assessment of true vocal cord-arytenoid unit mobility in patients affected by laryngeal cancer? a multi-institutional study on 366 patients from the ARYFIX collaborative group” [Oral Oncol. 152C (2024) 106744]

Author

Ferrari, M., primary, Mularoni, F., additional, Taboni, S., additional, Crosetti, E., additional, Pessina, C., additional, Carobbio, A.L.C., additional, Montalto, N., additional, Marchi, F., additional, Vural, A., additional, Paderno, A., additional, Caprioli, S., additional, Gaudioso, P., additional, Fermi, M., additional, Rigoni, F., additional, Saccardo, T., additional, Contro, G., additional, Ruaro, A., additional, Lo Manto, A., additional, Varago, C., additional, Baldovin, M., additional, Bandolin, L., additional, Filauro, M., additional, Sampieri, C., additional, Missale, F., additional, Ioppi, A., additional, Carta, F., additional, Ramanzin, M., additional, Ravanelli, M., additional, Maiolo, V., additional, Bertotto, I., additional, Del Bon, F., additional, Lancini, D., additional, Mariani, C., additional, Marrosu, V., additional, Tatti, M., additional, Cağlı, S., additional, Yüce, I., additional, Gündoğ, M., additional, Dogan, S., additional, Anile, G., additional, Gottardi, C., additional, Busato, F., additional, Vallin, A., additional, Gennarini, F., additional, Bossi, P., additional, Ghi, M.G., additional, Lionello, M., additional, Zanoletti, E., additional, Marioni, G., additional, Maroldi, R., additional, Mattioli, F., additional, Puxeddu, R., additional, Bertolin, A., additional, Presutti, L., additional, Piazza, C., additional, Succo, G., additional, Peretti, G., additional, and Nicolai, P., additional

Published
2024
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5. Correlation between pelvic bone marrow radiation dose and acute hematological toxicity in cervical cancer patients treated with concurrent chemoradiation

Author

Kumar T, Schernberg A, Busato F, Laurans M, Fumagalli I, Dumas I, Deutsch E, Haie-Meder C, and Chargari C

Subjects
bone marrow, dosimetric parameters, acute hematological toxicity, cervical cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

T Kumar,1–3 A Schernberg,1,2 F Busato,1,2 M Laurans,1,2 I Fumagalli,1,2 I Dumas,1,2 E Deutsch,1,2 C Haie-Meder,1,2 C Chargari1–2,4–51Brachytherapy Unit, Gustave Roussy, Cancer Campus, Villejuif, France; 2Radiotherapy Department, Gustave Roussy, Villejuif, France; 3Radiotherapy Department, University Hospital of Grenoble, Grenoble, France; 4Departement ’Effets Biologiques des Radiations’, Institut de Recherche Biomédicale des Armées, Brétigny sur Orge, France; 5French Military Health Academy, Ecole du Val-de-Grâce, Paris, FrancePurpose: To evaluate the association between pelvic bone marrow (BM) dose volume parameters and probability of acute hematological toxicity (HT), a cohort of cervical cancer patients receiving definitive chemoradiation (CRT) was assessed.Materials and methods: Medical records of patients treated by CRT (45 Gy in 25 fractions, without dose constraints applied to the BM) were reviewed. Baseline and weekly hematological parameters were collected. BM was retrospectively delineated and divided into sub-sites: iliac crests, lower pelvis, lumbosacral region. BM volumes (V) receiving 5, 10, 20, 30, 40 Gy (V5, V10, V20, V30, V40, respectively) and mean dose (Dm) were calculated. Logistic regression was used to analyze associations between HT and dose-volume histograms parameters.Results: 114 patients were included. 75.4% were treated with 3D radiation therapy and 24.6% were receiving intensity modulated radiation therapy (IMRT). Neither age, chemotherapy regimen (cisplatin vs carboplatin), number of chemotherapy cycles, performance status, body mass index, or para-aortic irradiation were associated with HT. In univariate analysis, more frequent grade 3+ leukopenia was found in the IMRT group (odds ratio [OR]: 3.5; 95% CI, 1.4–9.1; p=0.007). In multivariate analysis, grade 4 HT was associated with lower pelvis V5>95% (OR 4.1; 95% CI, 1.6–14. p=0.02), lower pelvis V20>45% (OR 3.5; 95% CI, 1.1–13.4; p=0.05), total pelvic bone V20>65%, and iliac crests Dm >31 Gy (OR 4.5; 95% CI, 1.4–14.7; p=0.02).Conclusion: The following dose constraints could be proposed to decrease acute HT risk: lower pelvis V5

Published
2019

11. List of Contributors

Author

Alarcon, S.L., primary, Andonov, R., additional, Arjomand, M., additional, Ausavarungnirun, R., additional, Bashizade, R., additional, Bhowmick, A., additional, Bombieri, N., additional, Boyer, V., additional, Burtscher, M., additional, Busato, F., additional, Chapuis, G., additional, Chen, Y.-C., additional, Chong, N., additional, Coplin, J., additional, Das, C., additional, de Melo, A.C.M.A., additional, Djidjev, H., additional, Donaldson, A.F., additional, El Baz, D., additional, Esmaeilzadeh, H., additional, Fu, X., additional, Ganguly, A., additional, Ghose, S., additional, Gopalakrishnan, G., additional, Gopi, M., additional, Hesaaraki, F., additional, Jang, B., additional, Jo, G., additional, Jog, A., additional, Jung, W., additional, Kandemir, M., additional, Ketema, J., additional, Khunjush, F., additional, Kim, H., additional, Kim, J., additional, Lavenier, D., additional, Lee, J., additional, Lee, Y.-J., additional, Lee, C.-R., additional, Li, G., additional, Li, P., additional, Li, J., additional, Lokhmotov, A., additional, Lotfi-Kamran, P., additional, Mansoor, N., additional, Mitra, T., additional, Moreano, N., additional, Mowry, T.C., additional, Mukka, H., additional, Mutlu, O., additional, Nath, R., additional, Park, J., additional, Pathania, A., additional, Pekhimenko, G., additional, Prakash, A., additional, Qadeer, S., additional, Ranka, S., additional, Sahni, S., additional, Salazar-Aguilar, M.A., additional, Samavatian, M.H., additional, Sarbazi-Azad, H., additional, Sharma, H., additional, Shen, X., additional, Skadron, K., additional, Ta, T., additional, Tan, J., additional, Troendle, D., additional, Tullsen, D., additional, Vijaykumar, N., additional, Wadden, J., additional, Wu, B., additional, Yang, A., additional, Yazdanbakhsh, A., additional, and Zardoshti, P., additional

Published
2017
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13. Brain metastases from primary colorectal cancer: Is radiosurgery an effective treatment approach? Results of a multicenter study of the radiation and clinical oncology Italian association (AIRO)

Author

Navarria, P, Minniti, G, Clerici, E, Comito, T, Cozzi, S, Pinzi, V, Fariselli, L, Ciammella, P, Scoccianti, S, Borzillo, V, Anselmo, P, Maranzano, E, Dell'Acqua, V, Jereczek-Fossa, B, Levra, N, Podlesko, A, Giudice, E, Di Monale E Bastia, M, Pedretti, S, Bruni, A, Zanetti, I, Borghesi, S, Busato, F, Pasqualetti, F, Paiar, F, Scorsetti, M, Navarria P., Minniti G., Clerici E., Comito T., Cozzi S., Pinzi V., Fariselli L., Ciammella P., Scoccianti S., Borzillo V., Anselmo P., Maranzano E., Dell'Acqua V., Jereczek-Fossa B., Levra N. G., Podlesko A. M., Giudice E., Di Monale E Bastia M. B., Pedretti S., Bruni A., Zanetti I. B., Borghesi S., Busato F., Pasqualetti F., Paiar F., Scorsetti M., Navarria, P, Minniti, G, Clerici, E, Comito, T, Cozzi, S, Pinzi, V, Fariselli, L, Ciammella, P, Scoccianti, S, Borzillo, V, Anselmo, P, Maranzano, E, Dell'Acqua, V, Jereczek-Fossa, B, Levra, N, Podlesko, A, Giudice, E, Di Monale E Bastia, M, Pedretti, S, Bruni, A, Zanetti, I, Borghesi, S, Busato, F, Pasqualetti, F, Paiar, F, Scorsetti, M, Navarria P., Minniti G., Clerici E., Comito T., Cozzi S., Pinzi V., Fariselli L., Ciammella P., Scoccianti S., Borzillo V., Anselmo P., Maranzano E., Dell'Acqua V., Jereczek-Fossa B., Levra N. G., Podlesko A. M., Giudice E., Di Monale E Bastia M. B., Pedretti S., Bruni A., Zanetti I. B., Borghesi S., Busato F., Pasqualetti F., Paiar F., and Scorsetti M.

Abstract

Objectives: The prognosis of brain metastatic colorectal cancer patients (BMCRC) is poor. Several local treatments have been used, but the optimal treatment choice remains an unresolved issue. We evaluated the clinical outcomes of a large series of BMCRC patients treated in several Italian centers using stereotactic radiosurgery (SRS). Methods: 185 BMCRC patients for a total of 262 lesions treated were evaluated. Treatments included surgery followed by post-operative SRS to the resection cavity, and SRS, either single-fraction, then hypofractionated SRS (HSRS). Outcomes was measured in terms of local control (LC), toxicities, brain distant failure (BDF), and overall survival (OS). Prognostic factors influencing survival were assed too. Results: The median follow-up time was 33 months (range 3-183 months). Surgery plus SRS have been performed in 28 (10.7%) cases, SRS in 141 (53.8%), and HSRS in 93 (35.5%). 77 (41.6%) patients received systemic therapy. The main total dose and fractionation used were 24Gy in single fraction or 24Gy in three daily fractions. Local recurrence occurred in 32 (17.3%) patients. Median, 6 months,1-year-LC were 86 months (95%CI 36-86), 87.2% ± 2.8, 77.8% ± 4.1. Median,6 months,1-year-BDF were 23 months (95%CI 9-44), 66.4% ± 3.9, 55.3% ± 4.5. Median,6 months,1-year-OS were 7 months (95%CI 6-9), 52.7% ± 3.6, 33% ± 3.5. No severe neurological toxicity occurred. Stage at diagnosis, Karnofsky Performance Status (KPS), presence and number of extracranial metastases, and disease-specific-graded-prognostic-assessment (DS-GPA) score were observed as conditioning survival. Conclusion: SRS/HSRS have proven to be an effective local treatment for BMCRC. A careful evaluation of prognostic factors as well as a multidisciplinary evaluation is a valid aid to manage the optimal therapeutic strategy for CTC patients with BMs.

Published
2020

14. At age 9, the methylome of assisted reproductive technology children that underwent embryo culture in different media is not significantly different on a genome-wide scale

Author

Koeck, R.M., Busato, F., Tost, J., Zandstra, H., Remy, S., Langie, S., Gielen, Marij, Golde, R. van, Dumoulin, J.C., Brunner, H.G., Esteki, M.Z., Montfoort, A.P. van, Koeck, R.M., Busato, F., Tost, J., Zandstra, H., Remy, S., Langie, S., Gielen, Marij, Golde, R. van, Dumoulin, J.C., Brunner, H.G., Esteki, M.Z., and Montfoort, A.P. van

Abstract

Contains fulltext : 287466.pdf (Publisher’s version ) (Open Access), STUDY QUESTION: Can we detect DNA methylation differences between ART children that underwent embryo culture in different media? SUMMARY ANSWER: We identified no significant differences in site-specific or regional DNA methylation between the different culture medium groups. WHAT IS KNOWN ALREADY: Embryo culture in G3 or K-SICM medium leads to differences in embryonic, neonatal and childhood outcomes, including growth and weight. The methylome may mediate this association as the period of in vitro culture of ART treatments coincides with epigenetic reprogramming. STUDY DESIGN, SIZE, DURATION: This study was conducted as a follow-up to a previous culture medium comparison study in which couples were pseudo-randomized to embryo culture in G3 or K-SICM medium. Of the resultant singletons, 120 (n = 65 G3, n = 55 K-SICM), were recruited at age 9. PARTICIPANTS/MATERIALS, SETTING, METHODS: The ART children provided a saliva sample from which the methylome was analysed using the Infinium MethylationEPIC array. After quality and context filtering, 106 (n = 57 G3, n = 49 K-SICM) samples and 659 708 sites were retained for the analyses. Differential methylation analyses were conducted using mixed effects linear models corrected for age, sex, sample plate and cell composition. These were applied to all cytosine-guanine dinucleotide (CpG) sites, various genomic regions (genes, promoters, CpG Islands (CGIs)) and as a targeted analysis of imprinted genes and birth weight-associated CpG sites. Differential variance was assessed using the improved epigenetic variable outliers for risk prediction analysis (iEVORA) algorithm and methylation outliers were identified using a previously defined threshold (upper or lower quartile plus or minus three times the interquartile range, respectively). MAIN RESULTS AND THE ROLE OF CHANCE: After correcting for multiple testing, we did not identify any significantly differentially methylated CpG sites, genes, promoters or CGIs between G3 and K-SICM

Published
2022

18. Tenofovir DF/emtricitabine and efavirenz combination therapy for HIV infection in patients treated for tuberculosis: the ANRS 129 BKVIR trial

Author

Lortholary, Olivier, Roussillon, Caroline, Boucherie, Céline, Padoin, Christophe, Chaix, Marie-Laure, Breton, Guillaume, Rami, Agathe, Veziris, Nicolas, Patey, Olivier, Caumes, Eric, May, Thierry, Molina, Jean-Michel, Robert, Jérome, Tod, Michel, Fagard, Catherine, Chêne, Geneviève, Aumaître, H., Borsato, F., Malet, M., Médus, M., Moreau, L., Neuville, S., Saada, M., Abgrall, S., Ahoudji, D., Balmard, L., Bentata, M., Bouchaud, O., Boudribila, A., Cailhol, J., Dhote, R., Djebbar, R., Gros, H., Honoré, P., Huynh, T., Krivitzky, A., Mansouri, R., Pizzocolo, C., Rouges, F., Viot, E., Amar, B., Bantsimba, J., Dellion, S., Patey, O., Richier, L., Dupon, M., Dutronc, H., Neau, D., Ragnaud, J. M., Raymond, I., Boucly, S., Gailhoustet, L., Lortholary, O., Maignan, A., Touam, F., Viard, J. P., Bergmann, J. F., Boulanger, E., Delcey, V., Diemer, M., Durel, A., Jouade, F., Parrinello, M., Rami, A., Sellier, P., Brazille, P., Leclerc, C., Welker, Y., Bernard, L., Berthé, H., Perronne, C., Salomon, J., de Truchis, P., Bolliot, C., Couzigou, C., Derradji, O., Escaut, L., Teicher, E., Vittecoq, D., Chakvetadze, C., Fontaine, C., LʼYavanc, T., Maresca, A., Pialoux, G., Slama, L., Tuna, L., Bornarel, D., Boué, F., Chassaing, A., Chaiba-Berroukeche, L., Chambrin, V., Delavalle, A. M., Galanaud, P., Levy, A., Pignon, C., Bonnet, D., Ecobichon, J. L., Fournier, I., Fraquiero, G., Gerbe, J., Gervais, A., Guiyedi, V., Iordache, L., Joly, V., Klutse, P., Laurichesse, J. J., Leport, C., Onanga, M., Pahlaval, G., Phung, B. C., Ralaimazava, P., Yeni, P., Almasi, F., Basler, M., Benammar, N., Brunes, A., Guérin, C., Guillevin, L., Meddour, R., Salmon, D., Spiridon, G., Tahi, T., Bloch, M., Ferreira, C., Mahe, I., Manceron, V., Minozzi, C., Mortier, E., Simonpoli, A. M., Vinceneux, P., Zeng Ai, F., Chesnel, C., Dominguez, S., Jouve, P., Lascaux-Cametz, A. S., Lelièvre, J. D., Levy, Y., Melica, G., Sobel, A., Bentaleb, N., Blondin-Diop, A., Bonmarchand, M., Bossi, P., Brancon, C., Breton, G., Bricaire, F., Caby, F., Canestri, A., Clavel, C., Edeb, N., Herson, S., Iguertsira, M., Katlama, C., Kouadio, H., Lagarde, P., Lopez, J. L., Marguet, F., Martinez, V., Remidi, H., Simon, A., Souchon, J. F., Valantin, M. A., Bollens, D., Girard, P. M., Lagneau, J. L., Lefebvre, B., Mouchotte, R., Ouazene, Z., Sebire, M., Theveny-Christiany, A., Valin, N., Bourgarit, A., de Castro, N., Delgado, J., Ferret, S., Lascoux-Combe, C., Molina, J. M., Parlier, S., Pavie, J., Pintado, C., Ponscarme, D., Rachline, A., Sereni, D., Taulera, O., de Verdiere, C., Vincent, F., Bernard, N., Bonarek, M., Bonnet, F., Delaune, J., Lacoste, D., Louis, I., Malvy, D., Mercier, P., Morlat, P., Pertusa, M. C., Schottey, M., Chanteloube, N., Eden, A., Le Moing, V., Makilson, A., de Boever, C. Merle, Reynes, J., Turrière, C., Tramoni, C., Vidal, M., Anavena, C., Billaud, E., Biron, C., Bonnet, B., Bouchez, J., Boutoille, D., Brosseau, D., Brunct, C., Colas, M., Feuillebois, N., Hüe, H., Launay, E., le Houssine, P. Morineau, Raffi, F., Reliquet, V., Cua, E., Dellamonica, P., Durant, J., Rahelinirina, V., Arvieux, C., Chapplain, J. M., Fily, F., Labbay, E., Michelet, C., Morin, F., Peaucelle, C., Revest, M., Ratajczak, M., Souala, F., Tattevin, P., Thomas, R., Alvarez, M., Balsarin, F., Bonnet, E., Busato, F., Cuzin, L., Marche, D., Marchou, B., Massip, P., Obadia, M., Porte, L., Aissi, E., Ajana, F., Alcaraz, I., Baclet, V., Dubus, S., Gérard, Y., Guerroumi, H., Huleux, T., Lahouste, A., Marien, M. C., Melliez, H., Mouton, Y., Pennel, M. P., Valette, M., Viget, N., Yazdanpanah, Y., Bevilacqua, S., Boyer, L., Lecompte, T., Letranchant, L., May, T., Rabaud, C., Thomas, L., Vancon, R., Wassoumbou, S., Abboud, P., Borsa-Lebas, F., Caron, F., Debab, Y., Etienne, M., Faucon, M., Gueit, I., Brouqui, P., Mokhtari, S., Moreau, J., Schlojsers, M., Vandergheynst, E., Chousterman, M., Delacroix-Szmania, I., El Harrar, B., Garrait, V., Joannes, S., Luquet-Besson, I., Mouchet, M., Richier, L., Stevens, A. Blase, Dupont, C., Maresca, A. Freire, Greffe, S., Hanslik, T., Landi, B., Leporrier, J., Rouveix, E., Toth, K., El Mansouf, L., Khuong-Josses, M. A., Méchali, D., Le Besnerais, J. Phalip, Taverne, B., Barclay, F., Fain, O., Flexor, G., Stirnemann, J., Tassi, S., Levast, M., Rogeaux, O., Raffenot, D., Tous, J., Lortholary, O., Bouchaud, O., Chaix, M. L., Chêne, G., Couffin-Cadiergues, S., Dupon, M., Fagard, C., Joly, V., Launay, O., Molina, J. M., Robert, J., Roussillon, C., Rouzioux, C., Tod, M., Yazdanpanah, Y., Lortholary, O., Breton, G., Caumes, E., May, T., Roussillon, C., Veziris, N., Badets, M., Boucherie, C., Fagard, C., Chêne, G., Roussillon, C., Terras, N., Guérin, C., Altare, F., Bourgarit, A., Carcelain, G., Trylesinski, A., Aubron-Olivier, C., Nguyen, T., and Bennai, Y.

Published
2016
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23. Analysis and annotation of DNA methylation in two nonhuman primate species using the Infinium Human Methylation 450K and EPIC BeadChips

Author

Pichon, F., Shen, Y.M., Busato, F., Jochems, S.P., Jacquelin, B., Grand, R. le, Deleuze, J.F., Muller-Trutwin, M., and Tost, J.

Subjects
African green monkey, chlorocebus, DNA methylation, annotation, vervet, macaca, Infinium, monkey, EPIC, microarray, 450K, rhesus macaque
Abstract

Aim: Nonhuman primates are essential for research on many human diseases. The Infinium Human Methylation450/EPIC BeadChips are popular tools for the study of the methylation state across the human genome at affordable cost. Methods: We performed a precise evaluation and re-annotation of the BeadChip probes for the analysis of genome-wide DNA methylation patterns in rhesus macaques and African green monkeys through in silico analyses combined with functional validation by pyrosequencing. Results: Up to 165,847 of the 450K and 261,545 probes of the EPIC BeadChip can be reliably used. The annotation files are provided in a format compatible with a variety of standard bioinformatic pipelines. Conclusion: Our study will facilitate high-throughput DNA methylation analyses in Macaca mulatta and Chlorocebus sabaeus.

Published
2021

30. PO-0880: SRS in brain metastases from colorectalcancer. A Radiation Oncology Italian Association study

Author

Navarria, P., primary, Clerici, E., additional, Comito, T., additional, Cozzi, S., additional, Pinzi, V., additional, Ciammella, P., additional, Scoccianti, S., additional, Borzillo, V., additional, Anselmo, P., additional, Maranzano, E., additional, Dell'acqua, V., additional, Jereczek-Fossa, B., additional, Levra, N. Giaj, additional, Minniti, G., additional, Podlesko, A.M., additional, Giudice, E., additional, di Monale e Bastia, M. Buglione, additional, Pedretti, S., additional, Bruni, A., additional, Zanetti, I. Bssi, additional, Borgesi, S., additional, Busato, F., additional, and Scorsetti, M., additional

Published
2020
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37. Impiego dell’ecografia con mezzo di contrasto nella diagnosi differenziale delle lesioni testicolari

Author

Corcioni B, Pucci S, Gaudiano C, Busato F, Di Vincenzo AO, Di Carlo M, Golfieri R, and Corcioni B, Pucci S, Gaudiano C, Busato F, Di Vincenzo AO, Di Carlo M, Golfieri R

Subjects
Lesioni testicolari non palpabili, CEUS, testing sparing surgery
Abstract

RIASSUNTO: La diagnosi differenziale preoperatoria delle lesioni testicolari non palpabili mediante le metodiche di imaging, specie con l'ecografia, è cruciale poiché consente, nei casi di negatività dei marker biochimici tumorali, un approccio chirurgico conservativo. Lo scopo dello studio è stato quello di valutare il ruolo dell'ecografia con mezzo di contrasto nella caratterizzazione delle piccole lesioni didimarie.

Published
2017

47. Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1

Author

Weber, A. (Axel), Schwarz, S.C. (Sigrid C.), Tost, J. (Jörg), Trümbach, D. (Dietrich), Winter, P. (Pia), Busato, F. (Florence), Tacik, P. (Pawel), Windhorst, A.C. (Anita C.), Fagny, M. (Maud), Arzberger, T. (T.), McLean, C. (Catriona), Swieten, J.C. (John) van, Schwarz, J. (Johannes), Vogt Weisenhorn, D. (Daniela), Wurst, M. (Martin), Adhikary, T. (Till), Dickson, D. (Dennis), Hoglinger, G. (Gunter), Müller, U. (Ulrich), Weber, A. (Axel), Schwarz, S.C. (Sigrid C.), Tost, J. (Jörg), Trümbach, D. (Dietrich), Winter, P. (Pia), Busato, F. (Florence), Tacik, P. (Pawel), Windhorst, A.C. (Anita C.), Fagny, M. (Maud), Arzberger, T. (T.), McLean, C. (Catriona), Swieten, J.C. (John) van, Schwarz, J. (Johannes), Vogt Weisenhorn, D. (Daniela), Wurst, M. (Martin), Adhikary, T. (Till), Dickson, D. (Dennis), Hoglinger, G. (Gunter), and Müller, U. (Ulrich)

Abstract

Genetic, epigenetic, and environmental factors contribute to the multifactorial disorder progressive supranuclear palsy (PSP). Here, we study epigenetic changes by genome-wide analysis of DNA from postmortem tissue of forebrains of patients and controls and detect significant (P < 0.05) methylation differences at 717 CpG sites in PSP vs. controls. Four-hundred fifty-one of these sites are associated with protein-coding genes. While differential methylation only affects a few sites in most genes, DLX1 is hypermethylated at multiple sites. Expression of an antisense transcript of DLX1, DLX1AS, is reduced in PSP brains. The amount of DLX1 protein is increased in gray matter of PSP forebrains. Pathway analysis suggests that DLX1 influences MAPT-encoded Tau protein. In a cell system, overexpression of DLX1 results in downregulation of MAPT while overexpression of DLX1AS causes upregulation of MAPT. Our observations suggest that altered DLX1 methylation and expression contribute to pathogenesis of PSP by influencing MAPT.

Published
2018
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48. Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1

Author

Weber, A, Schwarz, SC, Tost, J, Truembach, D, Winter, P, Busato, F, Tacik, P, Windhorst, AC, Fagny, M, Arzberger, T, McLean, C, van Swieten, JC, Schwarz, J, Weisenhorn, DV, Wurst, W, Adhikary, T, Dickson, DW, Hoelinger, GU, Mueller, U, Weber, A, Schwarz, SC, Tost, J, Truembach, D, Winter, P, Busato, F, Tacik, P, Windhorst, AC, Fagny, M, Arzberger, T, McLean, C, van Swieten, JC, Schwarz, J, Weisenhorn, DV, Wurst, W, Adhikary, T, Dickson, DW, Hoelinger, GU, and Mueller, U

Abstract

Genetic, epigenetic, and environmental factors contribute to the multifactorial disorder progressive supranuclear palsy (PSP). Here, we study epigenetic changes by genome-wide analysis of DNA from postmortem tissue of forebrains of patients and controls and detect significant (P < 0.05) methylation differences at 717 CpG sites in PSP vs. controls. Four-hundred fifty-one of these sites are associated with protein-coding genes. While differential methylation only affects a few sites in most genes, DLX1 is hypermethylated at multiple sites. Expression of an antisense transcript of DLX1, DLX1AS, is reduced in PSP brains. The amount of DLX1 protein is increased in gray matter of PSP forebrains. Pathway analysis suggests that DLX1 influences MAPT-encoded Tau protein. In a cell system, overexpression of DLX1 results in downregulation of MAPT while overexpression of DLX1AS causes upregulation of MAPT. Our observations suggest that altered DLX1 methylation and expression contribute to pathogenesis of PSP by influencing MAPT.

Published
2018

49. Gata3 hypermethylation and Foxp3 hypomethylation are associated with sustained protection and bystander effect following epicutaneous immunotherapy in peanut‐sensitized mice

Author

Mondoulet, L., primary, Dioszeghy, V., additional, Busato, F., additional, Plaquet, C., additional, Dhelft, V., additional, Bethune, K., additional, Leclere, L., additional, Daviaud, C., additional, Ligouis, M., additional, Sampson, H., additional, Dupont, C., additional, and Tost, J., additional

Published
2018
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