Zobrazeno 1 - 10
of 52
pro vyhledávání: '"Robert M W Hofstra"'
Autor:
Laura E Kuil, Katherine C MacKenzie, Clara S Tang, Jonathan D Windster, Thuy Linh Le, Anwarul Karim, Bianca M de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E J Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René M H Wijnen, Jeanne Amiel, Stanislas Lyonnet, Maria-Mercè Garcia-Barcelo, Paul K H Tam, Maria M Alves, Alice S Brooks, Robert M W Hofstra, Erwin Brosens
Publikováno v:
PLoS Genetics, Vol 17, Iss 8, p e1009698 (2021)
Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of ganglia in the intestine. HSCR etiology can be explained by a unique combination of genetic alterations: rare coding variants, predisposing haplotypes and Copy Numbe
Externí odkaz:
https://doaj.org/article/1c07ad4d76c24f9488439c5f30f264c2
Autor:
Romy van de Putte, Charlotte H W Wijers, Heiko Reutter, Sita H Vermeulen, Carlo L M Marcelis, Erwin Brosens, Paul M A Broens, Markus Homberg, Michael Ludwig, Ekkehart Jenetzky, Nadine Zwink, Cornelius E J Sloots, Annelies de Klein, Alice S Brooks, Robert M W Hofstra, Sophie A C Holsink, Loes F M van der Zanden, Tessel E Galesloot, Paul Kwong-Hang Tam, Marloes Steehouwer, Rocio Acuna-Hidalgo, Maartje van de Vorst, Lambertus A Kiemeney, Maria-Mercè Garcia-Barceló, Ivo de Blaauw, Han G Brunner, Nel Roeleveld, Iris A L M van Rooij
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0217477 (2019)
IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribut
Externí odkaz:
https://doaj.org/article/641fb7e6ff264466bd436fd610bb6de0
Autor:
Peter C van den Akker, Anna M G Pasmooij, Hans Joenje, Robert M W Hofstra, Gerard J Te Meerman, Marcel F Jonkman
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0192994 (2018)
Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritabl
Externí odkaz:
https://doaj.org/article/3024b096775248879066e7fa1344efa7
Autor:
Hellen Houlleberghs, Anne Goverde, Jarnick Lusseveld, Marleen Dekker, Marco J Bruno, Fred H Menko, Arjen R Mensenkamp, Manon C W Spaander, Anja Wagner, Robert M W Hofstra, Hein Te Riele
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006765 (2017)
Lynch syndrome (LS) is a hereditary cancer predisposition caused by inactivating mutations in DNA mismatch repair (MMR) genes. Mutations in the MSH6 DNA MMR gene account for approximately 18% of LS cases. Many LS-associated sequence variants are nons
Externí odkaz:
https://doaj.org/article/53dbc2752fd7400fb3a74d5fa6f8649b
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:
Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e62519 (2013)
Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these addit
Externí odkaz:
https://doaj.org/article/be655f622d9a471dba04553323858f20
Autor:
Rudolf S N Fehrmann, Ritsert C Jansen, Jan H Veldink, Harm-Jan Westra, Danny Arends, Marc Jan Bonder, Jingyuan Fu, Patrick Deelen, Harry J M Groen, Asia Smolonska, Rinse K Weersma, Robert M W Hofstra, Wim A Buurman, Sander Rensen, Marcel G M Wolfs, Mathieu Platteel, Alexandra Zhernakova, Clara C Elbers, Eleanora M Festen, Gosia Trynka, Marten H Hofker, Christiaan G J Saris, Roel A Ophoff, Leonard H van den Berg, David A van Heel, Cisca Wijmenga, Gerard J Te Meerman, Lude Franke
Publikováno v:
PLoS Genetics, Vol 7, Iss 8, p e1002197 (2011)
For many complex traits, genetic variants have been found associated. However, it is still mostly unclear through which downstream mechanism these variants cause these phenotypes. Knowledge of these intermediate steps is crucial to understand pathoge
Externí odkaz:
https://doaj.org/article/9c6dcd0644c6483f840acfa04a2fe276
Autor:
Maria M M Alves, Jan Osinga, Joke B G M Verheij, Marco Metzger, Bart J L Eggen, Robert M W Hofstra
Publikováno v:
PLoS ONE, Vol 5, Iss 12, p e15144 (2010)
Hirschsprung disease (HSCR) is a congenital malformation characterized by the absence of enteric neurons in the distal part of the colon. Several genes have been implicated in the development of this disease that together account for 20% of all cases
Externí odkaz:
https://doaj.org/article/612feda548a7412d9c1d571aab525ac6
Autor:
Anne P G Crijns, Rudolf S N Fehrmann, Steven de Jong, Frans Gerbens, Gert Jan Meersma, Harry G Klip, Harry Hollema, Robert M W Hofstra, Gerard J te Meerman, Elisabeth G E de Vries, Ate G J van der Zee
Publikováno v:
PLoS Medicine, Vol 6, Iss 2, p e24 (2009)
BackgroundOvarian cancer has a poor prognosis due to advanced stage at presentation and either intrinsic or acquired resistance to classic cytotoxic drugs such as platinum and taxoids. Recent large clinical trials with different combinations and sequ
Externí odkaz:
https://doaj.org/article/b4910f46b04e47b29451059654179ad5
Autor:
Tjakko J van Ham, Karen L Thijssen, Rainer Breitling, Robert M W Hofstra, Ronald H A Plasterk, Ellen A A Nollen
Publikováno v:
PLoS Genetics, Vol 4, Iss 3, p e1000027 (2008)
Inclusions in the brain containing alpha-synuclein are the pathological hallmark of Parkinson's disease, but how these inclusions are formed and how this links to disease is poorly understood. We have developed a C. elegans model that makes it possib
Externí odkaz:
https://doaj.org/article/050d2ba5bb134ce5934a470417bc3c73