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1,197 results on '"van der Velden, J."'

2. The Molecular Basis of the Frank-Starling Law of the Heart: A Possible Role for PIEZO1?

Author

dos Remedios, C. G., primary, Law, K. Y. C., additional, McNamara, J. W., additional, Kraft, T., additional, Peckham, M., additional, van der Velden, J., additional, Linke, W. A., additional, Ackerman, M., additional, Sequeira, V., additional, Lal, S., additional, Cooke, R., additional, Grosser, M., additional, Campbell, K. S., additional, Martinac, B., additional, and Li, A., additional

Published
2024
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10. Palliatieve radiotherapie

Author

van der Klis, K. A. M., Wortel, K., van der Velden, J. M., Dam, Tom, Series Editor, Froma, Age, Series Editor, Hakkert, Marcel, Series Editor, Hensen, Jacques, Series Editor, Scheurleer, Jelle, Series Editor, Sutherland, Iris, Series Editor, Tempelman, Gert, Series Editor, Zuurbier, Ria, Series Editor, van Zadelhoff, L., editor, Thysebaert, P., editor, Keus, R.B., editor, and Froma, A.A., editor

Published
2021
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11. Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.

Author

van der Velden, J. J. A. J., van Gisbergen, M. W., Kamps, M. A. F., Janssen, R., Diercks, G. F. H., Steijlen, P. M., van Geel, M., and Bolling, M. C.

Abstract

Epidermolytic ichthyosis (EI) is a type of congenital ichthyosis, characterized by erythema and blistering at birth followed by hyperkeratosis. EI is caused by pathogenic variants in the genes KRT1 and KRT10, encoding the proteins keratin 1 (KRT1) and keratin 10 (KRT10), respectively, and is primarily transmitted by autosomal‐dominant inheritance, although recessive inheritance caused by nonsense variants in KRT10 is also described. The keratins form a network of intermediate filaments and are a structural component of the cytoskeleton, giving strength and resilience to the skin. We present three cases of mild EI caused by pathogenic KRT10 variations in the L12 linker domain. To our knowledge, this is the first time L12 linker domain pathogenic variants are identified in KRT10 for EI. The aim of this study was to identify gene variants for patients with EI in KRT1 or KRT10. To establish the pathogenicity of the found variations in KRT10, we evaluated all patients and available family members clinically. Genetic analyses were performed using Sanger sequencing. Vectors containing wild‐type or mutated forms of KRT10 were transfected into HaCaT cells and analyzed by high‐resolution confocal microscopy. Genetic analysis of KRT10 identified a heterozygous de novo variant c.910G>A p.(Val304Met) in family 1, a familial heterozygous variant c.911T>C p.(Val304Ala) in family 2, and a familial heterozygous variant c.917T>C p.(Met306Thr) in family 3. All identified missense variants were located in the L12 linker domain of KRT10. In vitro study of aggregate formation of the missense variants in KRT10 only showed a very mild and not quantifiable aggregate formation in the KRT10 network, compared with the wild‐type sequence. We report three different novel missense variants in the L12 linker domain of KRT10 in patients with an atypical, milder form of EI resembling peeling skin syndrome. [ABSTRACT FROM AUTHOR]

Published
2024
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14. BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants—design and status

Author

Jansen, M., Christiaans, I., van der Crabben, S. N., Michels, M., Huurman, R., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., Jans, J. J. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., and Baas, A. F.

Published
2021
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17. No influence of sarcopenia on survival of ovarian cancer patients in a prospective validation study

Author

Ubachs, Jorne, Koole, Simone N., Lahaye, Max, Fabris, Cristina, Bruijs, Leigh, Schagen van Leeuwen, Jules, Schreuder, Henk W.R., Hermans, R.H., de Hingh, I.H., van der Velden, J., Arts, H.J., van Ham, M., van Dam, P., Vuylsteke, P., Bastings, Jacco, Kruitwagen, Roy F.P.M., Lambrechts, Sandrina, Olde Damink, Steven W.M., Rensen, Sander S., Van Gorp, Toon, Sonke, Gabe S., and van Driel, Willemien J.

Published
2020
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22. Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations

Author

Pei, J., Schuldt, M., Nagyova, E., Gu, Z., el Bouhaddani, S., Yiangou, L., Jansen, M., Calis, J. J. A., Dorsch, L. M., Blok, C. Snijders, van den Dungen, N. A. M., Lansu, N., Boukens, B. J., Efimov, I. R., Michels, M., Verhaar, M. C., de Weger, R., Vink, A., van Steenbeek, F. G., Baas, A. F., Davis, R. P., Uh, H. W., Kuster, D. W. D., Cheng, C., Mokry, M., van der Velden, J., Asselbergs, F. W., and Harakalova, M.

Published
2021
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24. ESMO–ESGO consensus conference recommendations on ovarian cancer: pathology and molecular biology, early and advanced stages, borderline tumours and recurrent disease

Author

Baert, T., Banerjee, S., Belaroussi, I., Blecharz, P., Bruchim, I., Cibula, D., Colombo, N., Concin, N., Davidson, B., Dashora, A., Devouassoux-Shisheboran, M., du Bois, A., Ferrero, A., Glasspool, R., González-Martin, A., Heinzelmann-Schwarz, V., Joly, F., Kim, J.W., Kridelka, F., Ledermann, J., Lorusso, D., Mahner, S., McCluggage, W.G., McNeish, I., Mikami, M., Mirza, M.R., Morice, P., Nicum, S., Olbrecht, S., O’Donnell, D.M., Pautier, P., Planchamp, F., Pignata, S., Querleu, D., Ray-Coquard, I., Rodolakis, A., Sehouli, J., Selcukbiricik, F., Sessa, C., Singh, N., Tan, D.S.P., Timmerman, D., Tognon, G., van der Velden, J., Vergote, I., Witteveen, P.O., and Zeimet, A.G.

Published
2019
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25. 2 Gezondheid van de wereldbevolking

Author

van der Velden, J., Mackenbach, J.P., Anema, J.R., van den Berg, M.J., van den Brink, W., Brug, J., Burdorf, A., Cornel, M.C., Das, C., Essink-Bot, M.L., Feron, F.J.M., Hulshof, C.T.J., Jeurissen, P.P.T., Klazinga, N.S., de Koning, H.J., Legemaate, J., Mackenbach, J.P., van Mechelen, W., van de Mheen, D., Middelkoop, B.J.C., Polder, J.J., Reijnders, U.J.L., Reijneveld, S.A., Richardus, J.H., Smit, H.A., Soethout, M.B.M., Stronks, K., van der Velden, J., Verhoeff, A.P., Westert, G.P., Wind, H., Mackenbach, Johan P., editor, and Stronks, Karien, editor

Published
2016
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26. Gezondheid en ziekte in de wereld

Author

van der Velden, J., Mackenbach, J.P., Anema, J.R., van den Brink, W., Brug, J., Burdorf, A., Das, C., HiraSing, R.A., Klazinga, N.S., van der Klink, J.J.L., de Koning, H.J., Legemaate, J., van der Maas, P.J., Mackenbach, J.P., van Mechelen, W., van de Mheen, D., Middelkoop, B.J.C., Polder, J.J., Reijneveld, S.A., Richardus, J.H., Smit, H.A., Soethout, M.B.M., Stronks, K., van der Velden, J., Westert, G.P., and Willems, J.H.B.M.

Published
2016
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33. Procalcitonin-guided decision making for duration of antibiotic therapy in neonates with suspected early-onset sepsis: a multicentre, randomised controlled trial (NeoPIns)

Author

Bakry, A, Dutta, S, el Helou, S, Kalaniti, K, Pogorzelski, D, Alliston, S, Roy, M, Grey, V, Hauff, K, Hill, S, Kittanakom, S, Janota, J, Visnovska, M, Fontana, M, Lanz, N, Stocker, M, Glauser, D, Zimmerman, U, Tomaske, M, Nelle, M, Schlapbach, LJ, Schuerman, FABA, Sie, SD, van Weissenbruch, MM, van den Dungen, FAM, Strik, M, van den Tooren-de, HK, van Rossum, Groot A, Batstra, M, van der Meer-Kappelle, LH, de Vries, E, de Mol, AC, Bolt-Wieringa, J, Stok, Daniel, Moonen, R, Donker, S, van Gijsel, J, Gondriet, IPE, van Herk, W, Hoekstein, S, Hofhuis, M, Hop, W, de Ligt, L, Manai, B, Kornelisse, R, de Rijke, Y, van Rossum, A, Siiskonen, S, van der Velden, J, Visser, EG, van Wijk, J Asch, Willemsen, S, van der Geijn, GJ, Haringsma, A, Andriessen, PA, Broeren, MAC, Donker, A, Stocker, Martin, van Herk, Wendy, el Helou, Salhab, Dutta, Sourabh, Fontana, Matteo S, Schuerman, Frank A B A, van den Tooren-de Groot, Rita K, Wieringa, Jantien W, Janota, Jan, van der Meer-Kappelle, Laura H, Moonen, Rob, Sie, Sintha D, de Vries, Esther, Donker, Albertine E, Zimmerman, Urs, Schlapbach, Luregn J, de Mol, Amerik C, Hoffman-Haringsma, Angelique, Roy, Madan, Tomaske, Maren, Kornelisse, René F, van Gijsel, Juliette, Visser, Eline G, Willemsen, Sten P, and van Rossum, Annemarie M C

Published
2017
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35. LOSS OF SKELETAL MUSCLE MASS DURING NEO-ADJUVANT CHEMOTHERAPY AND THE RELATION TO SURVIVAL IN PATIENTS WITH OVARIAN CANCER; A PROSPECTIVE ANALYSIS OF THE OVHIPEC-1 COHORT: EP1009

Author

Ubachs, J, Koole, S, Bruijs, L, Lahaye, M, Fabris, C, van Leeuwen, Schagen J, Schreuder, H, Hermans, R, de Hingh, I, van der Velden, J, Arts, H, Massuger, L, Bastings, J, Kruitwagen, R, Lambrechts, S, Damink, Olde S, Rensen, S, van Gorp, T, Sonke, G, and van Driel, W

Published
2019
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40. Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity:an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers

Author

Jansen, Mark, Schmidt, A. F., Jans, J. J. M., Christiaans, I., van der Crabben, S. N., Hoedemaekers, Y. M., Dooijes, D., Jongbloed, J. D. H., Boven, L. G., Lekanne Deprez, R. H., Wilde, A. A. M., van der Velden, J., de Boer, R. A., van Tintelen, J. P., Asselbergs, F. W., Baas, A. F., Cardiology, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, ACS - Heart failure & arrhythmias, Obstetrics and Gynaecology, CCA -Cancer Center Amsterdam, Human genetics, Amsterdam Cardiovascular Sciences, and Physiology

Abstract

Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease characterised by myocardial hypertrophy. HCM can cause outflow tract obstruction, sudden cardiac death and heart failure, but severity is highly variable. In this exploratory cross-sectional study, circulating acylcarnitines were assessed as potential biomarkers in 124 MYBPC3 founder variant carriers (59 with severe HCM, 26 with mild HCM and 39 phenotype-negative [G + P-]). Elastic net logistic regression identified eight acylcarnitines associated with HCM severity. C3, C4, C6-DC, C8:1, C16, C18 and C18:2 were significantly increased in severe HCM compared to G + P-, and C3, C6-DC, C8:1 and C18 in mild HCM compared to G + P-. In multivariable linear regression, C6-DC and C8:1 correlated to log-transformed maximum wall thickness (coefficient 5.01, p = 0.005 and coefficient 0.803, p = 0.007, respectively), and C6-DC to log-transformed ejection fraction (coefficient -2.50, p = 0.004). Acylcarnitines seem promising biomarkers for HCM severity, however prospective studies are required to determine their prognostic value. Graphical abstract: [Figure not available: see fulltext.].

Published
2023

43. Unilateral inguinofemoral lymphadenectomy in patients with early-stage vulvar squamous cell carcinoma and a unilateral metastatic sentinel lymph node is safe

Author

Van der Kolk, W.L., primary, Van der Zee, A.G.J., additional, Slomovitz, B.M., additional, Baldwin, P.J.W., additional, Van Doorn, H.C., additional, De Hullu, J.A., additional, Van der Velden, J., additional, Gaarenstroom, K.N., additional, Slangen, B.F.M., additional, Kjolhede, P., additional, Brännström, M., additional, Vergote, I., additional, Holland, C.M., additional, Coleman, R., additional, Van Dorst, E.B.L., additional, Van Driel, W.J., additional, Nunns, D., additional, Widschwendter, M., additional, Nugent, D., additional, DiSilvestro, P.A., additional, Mannel, R.S., additional, Tjiong, M.Y., additional, Boll, D., additional, Cibula, D., additional, Covens, A., additional, Provencher, D., additional, Runnebaum, I.B., additional, Monk, B.J., additional, Zanagnolo, V., additional, Tamussino, K., additional, Oonk, M.H.M., additional, Levenback, C.F., additional, Hermans, R.H., additional, Bouda, J., additional, Sharma, A., additional, Luesley, D., additional, Ellis, P., additional, Cruickshank, D.J., additional, Duncan, T.J., additional, Kieser, K., additional, Palle, C., additional, Spirtos, N.M., additional, O'Malley, D.M., additional, Leitao, M.M., additional, Geller, M., additional, Dhar, K., additional, Asher, V., additional, Tobias, D.H., additional, Borgfeldt, C., additional, Lea, J.S., additional, Lood, M., additional, Bailey, J., additional, Eyjolfsdottir, B., additional, Attard-Montalto, S., additional, Tewari, K.S., additional, Persson, P., additional, Manchanda, R., additional, Jensen, P., additional, and Van Le, L., additional

Published
2022
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48. Epicardial adipose tissue in PLN-cardiomyopathy

Author

Mahmoud, B., Van Woerden, G., De Brouwer, R., Kuster, D. W. D., Van Der Velden, J., Van Veldhuisen, D. J., De Boer, R. A., Westenbrink, B. D., Physiology, ACS - Heart failure & arrhythmias, and Anesthesiology

Published
2022

49. Ten-year experience of a national multidisciplinary tumour board for cancer and pregnancy in the Netherlands

Author

Heimovaara, Joosje H., primary, Boere, Ingrid A., additional, de Haan, Jorine, additional, van Calsteren, Kristel, additional, Amant, Frédéric, additional, van Zuylen, Lia, additional, Lok, Christine A.R., additional, Lok, C.A.R., additional, van Zuylen, L., additional, Boere, I.A., additional, Amant, F., additional, Beerendonk, C.C.M., additional, Bellido-Casado, M., additional, Beltman, J.J., additional, Bos, M.E.M.M., additional, Duvekot, J.J., additional, Gerestein, C.G.,, additional, Gordijn, S., additional, de Groot, C.J.M., additional, van Grotel, M., additional, Han, S.N., additional, Heeres, B.C., additional, van den Heuvel-Eibrink, M.M., additional, Houwink, A., additional, Huitema, D.R., additional, Koken, PhW., additional, Koppert, L.B., additional, Lugtenburg, P.J., additional, Ottevanger, P.B., additional, Painter, R.C., additional, Poortmans, P.M.P., additional, Roes, E.M., additional, van der Scheer, L., additional, Schröder, C.P., additional, Suelmann, B.B.M., additional, Suijkerbuijk, K.P.M., additional, van Tienhoven, G., additional, van Trommel, N.E., additional, Trum, J.W., additional, van der Velden, J., additional, Vriens, I.J.H., additional, and Witteveen, P.O., additional

Published
2022
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