Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Wouter Steyaert"'
Publikováno v:
Journal of Genetics and Genomics, 48, 4, pp. 289-299
JOURNAL OF GENETICS AND GENOMICS
Journal of Genetics and Genomics, 48, 289-299
JOURNAL OF GENETICS AND GENOMICS
Journal of Genetics and Genomics, 48, 289-299
Pseudogenes are frequently encountered noncoding sequences with a high sequence similarity to their protein-coding paralogue. For this reason, their presence is often considered troublesome in molecular diagnostics. In pseudoxanthoma elasticum (PXE),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60b7161cbe43dc53ffa76d215cbfffe
https://repository.ubn.ru.nl/handle/2066/236804
https://repository.ubn.ru.nl/handle/2066/236804
Autor:
Martine Biervliet, Elena Makareeva, Aileen M. Barnes, Anne De Paepe, Andy Willaert, Fransiska Malfait, Wouter Steyaert, Joan C. Marini, Sanne D'hondt, Eckhard Witten, Sofie Symoens, Kris Vleminckx, Paul Coucke, Julie De Backer, Brecht Guillemyn, Ann Huysseune, Gabriele Gillessen-Kaesbach, Delfien Syx, Sergey Leikin, Charlotte Gistelinck
Publikováno v:
The American Journal of Human Genetics. 97:521-534
The evolutionarily conserved transmembrane anterior posterior transformation 1 protein, encoded by TAPT1, is involved in murine axial skeletal patterning, but its cellular function remains unknown. Our study demonstrates that TAPT1 mutations underlie
Autor:
Wouter Steyaert, Tim Van Damme, Bart Dermaut, Paul Coucke, Patrick Santens, Anne De Paepe, Andy Willaert, Bernard Sablonnière
Publikováno v:
Neurology. 84:1760-1766
Objective: To identify the genetic cause in 2 Belgian families with autosomal recessive Huntington-like disorder (HDL). Methods: Homozygosity mapping and whole-exome sequencing in a consanguineous family as well as Sanger sequencing of the candidate
Autor:
Wouter Steyaert, Erik-Jan Kamsteeg, Peter K.C. Leung, Delfien Syx, G. Christoph Korenke, Paul Coucke, Payman Jamali, Sunnie Wong, Uwe Kornak, Peter Freisinger, Brian H.Y. Chung, Gülen Eda Utine, Miski Mohamed, Dirk Lefeber, Tim M. Strom, Sofie Symoens, Ulrich Brandt, Leo G.J. Nijtmans, Bert Callewaert, Thatjana Gardeitchik, Daisy Dalloyaux, Brecht Guillemyn, Sanne van Kraaij, Christopher C.Y. Mak, Riet De Rycke, Björn Fischer-Zirnsak, Tobias B. Haack, Anne De Paepe, Eva Morava, Fransiska Malfait, Thomas Meitinger, Ariana Kariminejad, Tim Van Damme, Ron A. Wevers, Alexander Hoischen, Yasemin Alanay, Monique van Scherpenzeel, Sergio Guerrero-Castillo, Ingrid Hausser, Christian Thiel, Siavash Ghaderi-Sohi
Publikováno v:
American Journal of Human Genetics, 100, 2, pp. 216-227
Am. J. Hum. Genet. 100, 216-227 (2017)
Am J Hum Genet
American Journal of Human Genetics, 100, 216-227
Am. J. Hum. Genet. 100, 216-227 (2017)
Am J Hum Genet
American Journal of Human Genetics, 100, 216-227
Contains fulltext : 169752.pdf (Publisher’s version ) (Closed access) Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f945dae35448251b6538cc98fd2ba08
https://hdl.handle.net/2066/169752
https://hdl.handle.net/2066/169752
Publikováno v:
Disease Markers, Vol 2015 (2015)
DISEASE MARKERS
Disease Markers
DISEASE MARKERS
Disease Markers
Joint hypermobility is a common, mostly benign, finding in the general population. In a subset of individuals, however, it causes a range of clinical problems, mainly affecting the musculoskeletal system. Joint hypermobility often appears as a famili
Autor:
Fransiska Malfait, Frederic Acke, Olivier Vanakker, Paul Coucke, Anne De Paepe, Ingeborg Dhooge, Kim De Leeneer, Geert Mortier, Els De Leenheer, Wouter Steyaert
Publikováno v:
Molecular genetics and metabolism
Introduction: Stickler syndrome is caused by mutations in genes encoding type II and type XI collagens. About 85% of the pathogenic variants is found in COL2A1 (Stickler type 1), whereas a minority of mutations has been reported in COL11A1 (Stickler
Autor:
Muhammad Salman Chishti, Muhammad Ansar, Suzanne M. Leal, Joshua D. Smith, Wasim Ahmad, Biao Li, Khadim Shah, Izoduwa Abbe, Kwanghyuk Lee, Michael J. Bamshad, Raja Hussain Ali, Paul Coucke, Regie Lyn P. Santos-Cortez, Jay Shendure, Wouter Steyaert, Deborah A. Nickerson
Publikováno v:
BMC MEDICAL GENETICS
BMC Medical Genetics
BMC Medical Genetics
Background: Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but w