Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young.

By S. Fajans, G. Bell, K. Polonsky. New England Journal of Medicine, 2001

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How researchers see this paper

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The allelic architecture of human disease genes: common disease-common variant...or not? (2002, background): “MODY genes for diabetes (5)], but typically it seems that no single factor is either necessary or sufficient for disease.”
Disordered lipid metabolism and the pathogenesis of insulin resistance. (2007, neutral): “(32), and people with Donohue’s syndrome due to insulin”
Gestational diabetes mellitus. (2005, background): “These include mutations in genes coding for: (a) glucokinase (MODY 2) (29, 33–35); (b) hepatocyte nuclear factor 1α (MODY 3) (29); (c) and insulin promoter factor 1 (MODY 4) (29).”
Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes (2006, background): “Similar to TCF7L2 , five of the six positionally cloned genes for the rare mendelian forms of type 2 diabetes, maturity-onset diabetes of the young (MODY), are transcription factor”
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes (2003, background): “Defects in insulin secretion are observed early in individuals with maturity-onset diabetes of the young, a monogenic form of type 2 diabete”
Fibroblast growth factor 21 corrects obesity in mice. (2008, background): “HNF4 has an important role in the maintenance of glucose metabolism in liver and is also able to regulate ApoA1 gene expression (20).”