Condition: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)


rs1371185696 in KCNJ11 gene and DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) PMID 11395395 2001 Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

PMID 21812132 2011 Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011.

PMID 21422196 2011 Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

PMID 15784703 2005 The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

PMID 15718250 2005 Relapsing diabetes can result from moderately activating mutations in KCNJ11.

PMID 18250167 2008 Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.

PMID 22311976 2012 Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.

PMID 23275527 2013 Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

PMID 15562009 2005 Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

PMID 23345197 2013 Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

PMID 20685672 2010 ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

PMID 24434300 2014 Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.

PMID 25639667 2016 Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.

PMID 20049716 2009 Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

PMID 20589481 2010 Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.

PMID 27908292 2016 Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.

PMID 12524280 2003 Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.

PMID 17446535 2007 Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.