Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with…
By A. Gloyn, M. Weedon, K. Owen, M. Turner, B. Knight, G. Hitman, M. Walker, J. Levy, M. Sampson, S. Halford and 3 more. Diabetes, 2003
795 citations recorded by the source corpus.
Subfields: Pathology and Forensic Medicine, Pediatrics, Perinatology and Child Health, Surgery
View Paper: https://www.semanticscholar.org/paper/cd301cb2ba01d27ff82100427f9372ee48ff5ace
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Citations in the corpus
- Regulation of Insulin Synthesis and Secretion and Pancreatic Beta-Cell Dysfunction in Diabetes (2012, positive): “The KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11) is a common variant that was identified in 2003, and encodes a zinc transporter restricted to beta cells that is a target of sulphonylureas, drugs that bind ATP-dependent potassium channels on beta cells leading to depolariza”
- Analysis of large scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia (2017, background): “23) (Gloyn et al., 2003) despite a frequency of 1 in 1.5 in gnomAD.”