Zobrazeno 1 - 10
of 758
pro vyhledávání: '"B, van Ommen"'
Autor:
T. J. van den Broek, G. C. M. Bakker, C. M. Rubingh, S. Bijlsma, J. H. M. Stroeve, B. van Ommen, M. J. van Erk, S. Wopereis
Publikováno v:
Genes & Nutrition, Vol 12, Iss 1, Pp 1-14 (2017)
Abstract Background A key feature of metabolic health is the ability to adapt upon dietary perturbations. A systemic review defined an optimal nutritional challenge test, the “PhenFlex test” (PFT). Recently, it has been shown that the PFT enables
Externí odkaz:
https://doaj.org/article/79bbd9bdbb7b4c84bcff77669727b671
Autor:
Jayne Y. Hehir-Kwa, Tobias Marschall, Wigard P. Kloosterman, Laurent C. Francioli, Jasmijn A. Baaijens, Louis J. Dijkstra, Abdel Abdellaoui, Vyacheslav Koval, Djie Tjwan Thung, René Wardenaar, Ivo Renkens, Bradley P. Coe, Patrick Deelen, Joep de Ligt, Eric-Wubbo Lameijer, Freerk van Dijk, Fereydoun Hormozdiari, The Genome of the Netherlands Consortium, André G. Uitterlinden, Cornelia M. van Duijn, Evan E. Eichler, Paul I. W. de Bakker, Morris A. Swertz, Cisca Wijmenga, Gert-Jan B. van Ommen, P. Eline Slagboom, Dorret I. Boomsma, Alexander Schönhuth, Kai Ye, Victor Guryev
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
Structural variants (SVs) are prevalent in genomes of the general population. Here, Guryev and The Genome of the Netherlands Consortium describe the reference panel of haplotype-resolved SVs from 769 individuals from 250 Dutch families and show its u
Externí odkaz:
https://doaj.org/article/cc53ee49aa484f2a8f1598343fa7c306
Autor:
Menno H Schut, Stefano Patassini, Eric H Kim, Jocelyn Bullock, Henry J Waldvogel, Richard L M Faull, Barry A Pepers, Johan T den Dunnen, Gert-Jan B van Ommen, Willeke M C van Roon-Mom
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0178556 (2017)
Huntington disease is associated with elongation of a CAG repeat in the HTT gene that results in a mutant huntingtin protein. Several studies have implicated N-terminal huntingtin protein fragments in Huntington disease pathogenesis. Ideally, these f
Externí odkaz:
https://doaj.org/article/9a7865e958a0411b9180dd6c69cff94c
Autor:
Melvin M. Evers, Hoang-Dai Tran, Ioannis Zalachoras, Barry A. Pepers, Onno C. Meijer, Johan T. den Dunnen, Gert-Jan B. van Ommen, Annemieke Aartsma-Rus, Willeke M.C. van Roon-Mom
Publikováno v:
Neurobiology of Disease, Vol 58, Iss , Pp 49-56 (2013)
Spinocerebellar ataxia type 3 is caused by a polyglutamine expansion in the ataxin-3 protein, resulting in gain of toxic function of the mutant protein. The expanded glutamine stretch in the protein is the result of a CAG triplet repeat expansion in
Externí odkaz:
https://doaj.org/article/ce973f13299e482a8c9099a6f53954e9
Autor:
Kristina M Hettne, Mark Thompson, Herman H H B M van Haagen, Eelke van der Horst, Rajaram Kaliyaperumal, Eleni Mina, Zuotian Tatum, Jeroen F J Laros, Erik M van Mulligen, Martijn Schuemie, Emmelien Aten, Tong Shu Li, Richard Bruskiewich, Benjamin M Good, Andrew I Su, Jan A Kors, Johan den Dunnen, Gert-Jan B van Ommen, Marco Roos, Peter A C 't Hoen, Barend Mons, Erik A Schultes
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0149621 (2016)
High-throughput experimental methods such as medical sequencing and genome-wide association studies (GWAS) identify increasingly large numbers of potential relations between genetic variants and diseases. Both biological complexity (millions of poten
Externí odkaz:
https://doaj.org/article/ed3a1941c05b441ea220e91498549db3
Autor:
Jeroen eFrank, Celia eDingemanse, Arnoud M. Schmitz, Rolf H. A. M. Vossen, Gert-Jan B. van Ommen, Johan T. den Dunnen, Els C. Robanus-Maandag, Seyed Yahya eAnvar
Publikováno v:
Frontiers in Microbiology, Vol 6 (2016)
BackgroundImmuno-compromised mice infected with Helicobacter typhlonius are used to model microbially inducted inflammatory bowel disease (IBD). The specific mechanism through which H. typhlonius induces and promotes IBD is not fully understood. Acce
Externí odkaz:
https://doaj.org/article/45d950e4263d4b52906441b96338fef9
Autor:
Ellen Sterrenburg, Caroline G.C. van der Wees, Stefan J. White, Rolf Turk, Renée X. de Menezes, Gert-Jan B. van Ommen, Johan T. den Dunnen, Peter A.C. 't Hoen
Publikováno v:
Neurobiology of Disease, Vol 23, Iss 1, Pp 228-236 (2006)
Duchenne Muscular Dystrophy (DMD) is characterized by progressive muscle weakness and wasting. Despite the sustained presence of satellite cells in their skeletal muscles, muscle regeneration in DMD patients seems inefficient and unable to compensate
Externí odkaz:
https://doaj.org/article/1d7ad38871d14f339eb2c717c935f14c
Autor:
Toomas Haller, Gert-Jan B. van Ommen, B. H. C. Stricker, Andres Metspalu, Eivind Ness-Jensen, Satu Männistö, Jelle J. Goeman, Kairit Mikkel, Olga Veth, Neeme Tõnisson, Rikje Ruiter, Cornelia M. van Duijn, Casper H.J. van Eijck, Jesse Fest, Kristian Hveem, Markus Perola, Peter A C 't Hoen, Arfan Ikram, Anni Joensuu, Lisanne S. Vijfhuizen
Publikováno v:
Endocrinology, 160(7), 1731-1742
Endocrinology, 160, 7, pp. 1731-1742
Endocrinology, 160, 1731-1742
Endocrinology, 160(7), 1731-1742. Endocrine Society
Endocrinology
Endocrinology, 160, 7, pp. 1731-1742
Endocrinology, 160, 1731-1742
Endocrinology, 160(7), 1731-1742. Endocrine Society
Endocrinology
Background and aimMost patients with pancreatic cancer present with advanced disease and die within the first year after diagnosis. Predictive biomarkers that signal the presence of pancreatic cancer in an early stage are desperately needed. We aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c644776ba778768129e83439d0440c4
https://doi.org/10.1210/en.2019-00165
https://doi.org/10.1210/en.2019-00165
Autor:
Daria V. Zhernakova, Eleonora de Klerk, Harm-Jan Westra, Anastasios Mastrokolias, Shoaib Amini, Yavuz Ariyurek, Rick Jansen, Brenda W. Penninx, Jouke J. Hottenga, Gonneke Willemsen, Eco J. de Geus, Dorret I. Boomsma, Jan H. Veldink, Leonard H. van den Berg, Cisca Wijmenga, Johan T. den Dunnen, Gert-Jan B. van Ommen, Peter A. C. 't Hoen, Lude Franke
Publikováno v:
PLoS Genetics, Vol 9, Iss 9 (2013)
Externí odkaz:
https://doaj.org/article/dd3e3b42f5074b46aea469d1cfca9f42
Autor:
Daria V Zhernakova, Eleonora de Klerk, Harm-Jan Westra, Anastasios Mastrokolias, Shoaib Amini, Yavuz Ariyurek, Rick Jansen, Brenda W Penninx, Jouke J Hottenga, Gonneke Willemsen, Eco J de Geus, Dorret I Boomsma, Jan H Veldink, Leonard H van den Berg, Cisca Wijmenga, Johan T den Dunnen, Gert-Jan B van Ommen, Peter A C 't Hoen, Lude Franke
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003594 (2013)
Many disease-associated variants affect gene expression levels (expression quantitative trait loci, eQTLs) and expression profiling using next generation sequencing (NGS) technology is a powerful way to detect these eQTLs. We analyzed 94 total blood
Externí odkaz:
https://doaj.org/article/52d50b478a1f4c92882a799ef937a4b8