نتایج جستجو برای: hnf4a

تعداد نتایج: 457  

2010
Francine Einstein Reid F. Thompson Tushar D. Bhagat Melissa J. Fazzari Amit Verma Nir Barzilai John M. Greally

BACKGROUND Perturbations of the intrauterine environment can affect fetal development during critical periods of plasticity, and can increase susceptibility to a number of age-related diseases (e.g., type 2 diabetes mellitus; T2DM), manifesting as late as decades later. We hypothesized that this biological memory is mediated by permanent alterations of the epigenome in stem cell populations, an...

2012
Laura M. Epple Steve G. Griffiths Anjelika M. Dechkovskaia Nathaniel L. Dusto Jason White Rodney J. Ouellette Thomas J. Anchordoquy Lynne T. Bemis Michael W. Graner

Medulloblastomas are the most prevalent malignant pediatric brain tumors. Survival for these patients has remained largely the same for approximately 20 years, and our therapies for these cancers cause significant health, cognitive, behavioral and developmental sequelae for those who survive the tumor and their treatments. We obviously need a better understanding of the biology of these tumors,...

Journal: :Diabetes 2004
Kaisa Silander Karen L Mohlke Laura J Scott Erin C Peck Pablo Hollstein Andrew D Skol Anne U Jackson Panagiotis Deloukas Sarah Hunt George Stavrides Peter S Chines Michael R Erdos Narisu Narisu Karen N Conneely Chun Li Tasha E Fingerlin Sharanjeet K Dhanjal Timo T Valle Richard N Bergman Jaakko Tuomilehto Richard M Watanabe Michael Boehnke Francis S Collins

The Finland-United States Investigation Of NIDDM Genetics (FUSION) study aims to identify genetic variants that predispose to type 2 diabetes by studying affected sibling pair families from Finland. Chromosome 20 showed our strongest initial evidence for linkage. It currently has a maximum logarithm of odds (LOD) score of 2.48 at 70 cM in a set of 495 families. In this study, we searched for di...

Journal: :Journal of the Canadian Association of Gastroenterology 2018

2015
Lucas Santos de Santana Lílian Araújo Caetano Márcia Nery Alexander Augusto de Lima Jorge Milena Gurgel Teles Bezerra

Background Maturity-Onset Diabetes of the Young (MODY) is a form of monogenic diabetes characterized by autosomal dominant inheritance, young age of onset and pancreatic betacell dysfunction without autoimmune cause. To date 13 genes have been identified associated with MODY phenotype, with four of them (HNF1A; GCK; HNF4A and HNF1B) being responsible for over 95% of cases. Recently, our group h...

2011
Tim J. McDonald Beverley M. Shields Jane Lawry Katharine R. Owen Anna L. Gloyn Sian Ellard Andrew T. Hattersley

OBJECTIVE Maturity-onset diabetes of the young (MODY) as a result of mutations in hepatocyte nuclear factor 1-α (HNF1A) is often misdiagnosed as type 1 diabetes or type 2 diabetes. Recent work has shown that high-sensitivity C-reactive protein (hs-CRP) levels are lower in HNF1A-MODY than type 1 diabetes, type 2 diabetes, or glucokinase (GCK)-MODY. We aim to replicate these findings in larger nu...

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