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Update of variants identified in the pancreatic beta-cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the beta-cell ATP-sensitive potassium channel, a key component of the glucose-stimulated insulin secretion pathway. ...This …
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode …
KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.
Haghvirdizadeh P, Mohamed Z, Abdullah NA, Haghvirdizadeh P, Haerian MS, Haerian BS. Haghvirdizadeh P, et al. J Diabetes Res. 2015;2015:908152. doi: 10.1155/2015/908152. Epub 2015 Sep 13. J Diabetes Res. 2015. PMID: 26448950 Free PMC article. Review.
Kir6.2 is encoded by the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) gene, a member of the potassium channel genes. Numerous studies have reported the involvement of single nucleotide polymorphisms of the KCNJ11 gene and their interactions …
Kir6.2 is encoded by the potassium inwardly rectifying channel, subfamily J, member 11 (KCNJ11) gene, a member of the potassium chann …
A novel mutation KCNJ11 R136C caused KCNJ11-MODY.
Chen Y, Hu X, Cui J, Zhao M, Yao H. Chen Y, et al. Diabetol Metab Syndr. 2021 Aug 31;13(1):91. doi: 10.1186/s13098-021-00708-6. Diabetol Metab Syndr. 2021. PMID: 34465386 Free PMC article.
A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequencing and her daughter doesn't carry this mutation. Bioinformatics software predicted that the 136th amino acid is highly conservative and …
A young female patient, diagnosed with diabetes mellitus at the age of 28 years old in 2009, carries KCNJ11 R136C by whole exome sequ …
KCNJ11 and KCNQ1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes Mellitus.
Majcher S, Ustianowski P, Malinowski D, Czerewaty M, Tarnowski M, Safranow K, Dziedziejko V, Pawlik A. Majcher S, et al. Genes (Basel). 2022 Jul 23;13(8):1315. doi: 10.3390/genes13081315. Genes (Basel). 2022. PMID: 35893051 Free PMC article.
There were also no differences in the expression of KCNJ11 and KCNQ1 genes in the placenta of women with GDM and normal carbohydrate tolerance. However, an association between KCNJ11 gene expression in placenta and APGAR score in newborns was found....
There were also no differences in the expression of KCNJ11 and KCNQ1 genes in the placenta of women with GDM and normal carbohydrate …
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 …
Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR, Greeley SAW. Letourneau LR, et al. Curr Diab Rep. 2019 Jun 27;19(8):52. doi: 10.1007/s11892-019-1175-9. Curr Diab Rep. 2019. PMID: 31250216 Free PMC article. Review.
PURPOSE OF REVIEW: The goal of this review is to provide updates on the safety and efficacy of long-term sulfonylurea use in patients with KCNJ11-related diabetes. Publications from 2004 to the present were reviewed with an emphasis on literature since 2014. ...Sulfonylure …
PURPOSE OF REVIEW: The goal of this review is to provide updates on the safety and efficacy of long-term sulfonylurea use in patients with …
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A. Snider KE, et al. J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28. J Clin Endocrinol Metab. 2013. PMID: 23275527 Free PMC article.
METHODS: Mutation analysis was carried out for the ATP-sensitive potassium (KATP) channel genes (ABCC8 and KCNJ11), GLUD1, and GCK with supplemental screening of rarer genes, HADH, UCP2, HNF4A, HNF1A, and SLC16A1. RESULTS: Mutations were identified in 91% (272 of 298) of d …
METHODS: Mutation analysis was carried out for the ATP-sensitive potassium (KATP) channel genes (ABCC8 and KCNJ11), GLUD1, and GCK wi …
Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review.
Liu Z, Zhao W, Cao C, Wang Y, Xiao L, Wang X, Jin C, Xiao J. Liu Z, et al. Front Endocrinol (Lausanne). 2023 Dec 13;14:1297146. doi: 10.3389/fendo.2023.1297146. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38152125 Free PMC article. Review.
Genetic testing identified a heterozygous p.Arg301Cys mutation in the KCNJ11 gene. CONCLUSION: This is a rare case of PSIS with liver cirrhosis and diabetes associated with an inactivating KCNJ11 gene mutation. It's supposed that early hyperinsulinism caused by the …
Genetic testing identified a heterozygous p.Arg301Cys mutation in the KCNJ11 gene. CONCLUSION: This is a rare case of PSIS with liver …
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.
He B, Li X, Zhou Z. He B, et al. J Diabetes. 2021 Jan;13(1):19-32. doi: 10.1111/1753-0407.13114. Epub 2020 Oct 27. J Diabetes. 2021. PMID: 32935446 Review.
The KCNJ11 gene encodes the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (K(ATP) ) channel, which plays a key role in insulin secretion. Monogenic diseases caused by KCNJ11 gene mutation are rare and easily misdiagnosed. It has been shown that mu …
The KCNJ11 gene encodes the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium (K(ATP) ) channel, which plays a key rol …
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K. Kapoor RR, et al. Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr. Eur J Endocrinol. 2013. PMID: 23345197 Free PMC article.
RESULTS: Mutations were identified in 136/300 patients (45.3%). Mutations in ABCC8/KCNJ11 were the commonest genetic cause identified (n=109, 36.3%). Among diazoxide-unresponsive patients (n=105), mutations in ABCC8/KCNJ11 were identified in 92 (87.6%) patients, of …
RESULTS: Mutations were identified in 136/300 patients (45.3%). Mutations in ABCC8/KCNJ11 were the commonest genetic cause identified …
1,075 results