Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Helga Westers"'
Autor:
Jeroen A. A. van de Pol, Paranita Ferronika, Helga Westers, Manon van Engeland, Martijn M. Terpstra, Kim M. Smits, Kim de Lange, Piet A. van den Brandt, Rolf H. Sijmons, Leo J. Schouten, Klaas Kok
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)
Abstract In this study, we investigate the influence of the seven genes (VHL, PBRM1, SETD2, BAP1, KDM5C, MTOR and TP53) most frequently mutated in clear cell renal cell cancer (ccRCC) on cancer-specific survival (CSS) in the prospective Netherlands C
Externí odkaz:
https://doaj.org/article/c6048eb133a44760a00156881a3a8d91
Autor:
Mohamed Z. Alimohamed, Helga Westers, Yvonne J. Vos, K. Joeri Van der Velde, Rolf H. Sijmons, Paul A. Van der Zwaag, Birgit Sikkema-Raddatz, Jan D. H. Jongbloed
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation sequencing (NGS). Rec
Externí odkaz:
https://doaj.org/article/ad56929e4cb34a12b260f4de521ce77c
Autor:
Fatemeh Ghorbani, Mohamed Z. Alimohamed, Juliana F. Vilacha, Krista K. Van Dijk, Jelkje De Boer-Bergsma, Michiel R. Fokkens, Henny Lemmink, Rolf H. Sijmons, Birgit Sikkema-Raddatz, Matthew R. Groves, Corien C. Verschuuren-Bemelmans, Dineke S. Verbeek, Cleo C. Van Diemen, Helga Westers
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to diagnosis, prognosis and risk assessment for patients and their family members. While advances
Externí odkaz:
https://doaj.org/article/e0ce2a4a56bf4a8db0790dfc9826b968
Autor:
Jun Li, Joost Kluiver, Jan Osinga, Helga Westers, Maaike B van Werkhoven, Marc A. Seelen, Rolf H. Sijmons, Anke van den Berg, Klaas Kok
Publikováno v:
Neoplasia: An International Journal for Oncology Research, Vol 18, Iss 6, Pp 339-346 (2016)
SET domain-containing 2 (SETD2) is responsible for the trimethylation of histone H3 lysine36 (H3K36me3) and is one of the genes most frequently mutated in clear cell renal cell carcinoma (ccRCC). It is located at 3p21, one copy of which is lost in th
Externí odkaz:
https://doaj.org/article/89a442748b1341539ed9d5f044cda552
Autor:
Ben Kinnersley, Daniel Chubb, Sara E. Dobbins, Matthew Frampton, Stephan Buch, Maria N. Timofeeva, Sergi Castellví-Bel, Susan M. Farrington, Asta Forsti, Jochen Hampe, Kari Hemminki, Robert M. W. Hofstra, Emma Northwood, Claire Palles, Manuela Pinheiro, Clara Ruiz-Ponte, Clemens Schafmayer, Manuel R. Teixeira, Helga Westers, Tom van Wezel, D. Timothy Bishop, Ian Tomlinson, Malcolm G. Dunlop, Richard S. Houlston
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-3 (2016)
Externí odkaz:
https://doaj.org/article/3995a0ed53f04657ae7904007a97225c
Autor:
Paranita Ferronika, Joost Hof, Gursah Kats-Ugurlu, Rolf H. Sijmons, Martijn M. Terpstra, Kim de Lange, Annemarie Leliveld-Kors, Helga Westers, Klaas Kok
Publikováno v:
Cancers, Vol 11, Iss 6, p 812 (2019)
While intratumour genetic heterogeneity of primary clear cell renal cell carcinoma (ccRCC) is well characterized, the genomic profiles of metastatic ccRCCs are seldom studied. We profiled the genomes and transcriptomes of a primary tumour and matched
Externí odkaz:
https://doaj.org/article/1a21f129c3f148418585e94b38751775
Autor:
Anna Abulí, Luis Bujanda, Jenifer Muñoz, Stephan Buch, Clemens Schafmayer, Maria Valeria Maiorana, Silvia Veneroni, Tom van Wezel, Tao Liu, Helga Westers, Clara Esteban-Jurado, Teresa Ocaña, Josep M Piqué, Montserrat Andreu, Rodrigo Jover, Angel Carracedo, Rosa M Xicola, Xavier Llor, Antoni Castells, EPICOLON Consortium, Malcolm Dunlop, Robert Hofstra, Annika Lindblom, Juul Wijnen, Paolo Peterlongo, Jochen Hampe, Clara Ruiz-Ponte, Sergi Castellví-Bel
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e95022 (2014)
Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most
Externí odkaz:
https://doaj.org/article/346b83e22aca4a92b69ec2e743525b29
Autor:
Christine S van der Werf, Nai-Hua Hsiao, Siobhan Conroy, Joana Paredes, Ana S Ribeiro, Yunia Sribudiani, Raquel Seruca, Robert M W Hofstra, Helga Westers, Sven C D van Ijzendoorn
Publikováno v:
PLoS ONE, Vol 8, Iss 2, p e54649 (2013)
Loss-of-function mutations in CLMP have been found in patients with Congenital Short Bowel Syndrome (CSBS), suggesting that its encoded protein plays a major role in intestinal development. CLMP is a membrane protein that co-localizes with tight junc
Externí odkaz:
https://doaj.org/article/1f77282ca5de420986a7046b9d7ee00a
Autor:
Mohamed Z. Alimohamed, Ludolf G. Boven, Krista K. van Dijk, Yvonne J. Vos, Yvonne M. Hoedemaekers, Paul A. van der Zwaag, Rolf H. Sijmons, Jan D.H. Jongbloed, Birgit Sikkema-Raddatz, Helga Westers
Publikováno v:
Gene, 851
Gene, 851:146984. Elsevier
Gene, 851:146984. Elsevier
Background: Splice prediction algorithms currently used in routine DNA diagnostics have limited sensitivity and specificity, therefore many potential splice variants are classified as variants of uncertain significance (VUSs). However, functional ass
Autor:
Mathilde C. S. C. Vermeer, Daniela Andrei, Duco Kramer, Albertine M. Nijenhuis, Yvonne M. Hoedemaekers, Helga Westers, Jan D. H. Jongbloed, Hendri H. Pas, Maarten P. van den Berg, Herman H. W. Silljé, Peter van der Meer, Maria C. Bolling
Publikováno v:
Experimental dermatology, 31(6), 970-979. Blackwell Publishing Ltd
Desmoplakin (DP) is an important component of desmosomes, essential in cell-cell connecting structures in stress-bearing tissues. Over many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or