Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.
Ba T, Ren Q, Gong S, Li M, Cai X, Liu W, Luo Y, Zhang S, Zhang R, Zhou L, Zhu Y, Zhang X, Chen J, Wu J, Zhou X, Li Y, Wang X, Wang F, Zhong L, Han X, Ji L.
Ba T, et al.
Clin Endocrinol (Oxf). 2024 Nov;101(5):466-474. doi: 10.1111/cen.15126. Epub 2024 Aug 27.
Clin Endocrinol (Oxf). 2024.
PMID: 39190464
Review.
OBJECTIVE: Gain-of-function (GOF) variants of KCNJ11 cause neonate diabetes and maturity-onset diabetes of the young (KCNJ11-MODY), while loss-of-function (LOF) variants lead to hyperinsulinemia hypoglycemia and subsequent diabetes. ...Many patients carrying VUS wer …
OBJECTIVE: Gain-of-function (GOF) variants of KCNJ11 cause neonate diabetes and maturity-onset diabetes of the young (KCNJ11-M …