Associated Papers
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome.
Cahn A et al.
European Journal of Human Genetics : Ejhg, 2024
Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway.
Kushi R et al.
Diabetology International, 2021
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.
Hosoe J et al.
Diabetes Research and Clinical Practice, 2020
Genomic insights into the causes of type 2 diabetes.
Langenberg C et al.
Lancet (london, England), 2018
A common Greenlandic TBC1D4 variant confers muscle insulin resistance and type 2 diabetes.
Moltke I et al.
Nature, 2014
Conventional knockout of Tbc1d1 in mice impairs insulin- and AICAR-stimulated glucose uptake in skeletal muscle.
Dokas J et al.
Endocrinology, 2013
Expression and phosphorylation of the AS160_v2 splice variant supports GLUT4 activation and the Warburg effect in multiple myeloma.
Cheng JC et al.
Cancer & Metabolism, 2013
AS160 deficiency causes whole-body insulin resistance via composite effects in multiple tissues.
Wang HY et al.
The Biochemical Journal, 2013
Mice with AS160/TBC1D4-Thr649Ala knockin mutation are glucose intolerant with reduced insulin sensitivity and altered GLUT4 trafficking.
Chen S et al.
Cell Metabolism, 2011
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.
Dash S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
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