Condition: DIABETES MELLITUS, PERMANENT NEONATAL


rs1048095 in ABCC8 gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 17213273 2007 Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

PMID 16613899 2006 A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

PMID 17668386 2007 Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

PMID 16885549 2006 Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

rs1286804191 in GCK gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

rs80356654 in GCK;LOC105375258 gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

rs1135401727 in INS-IGF2;INS gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 20133622 2010 Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

PMID 20938745 2010 Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

PMID 17855560 2007 Insulin gene mutations as a cause of permanent neonatal diabetes.

PMID 18162506 2008 Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

PMID 21592955 2011 Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.

rs121908272 in INS;INS-IGF2 gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 18162506 2008 Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

PMID 17855560 2007 Insulin gene mutations as a cause of permanent neonatal diabetes.

PMID 20133622 2010 Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.

PMID 21592955 2011 Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.

rs1371185696 in KCNJ11 gene and DIABETES MELLITUS, PERMANENT NEONATAL 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 21422196 2011 Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

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 20022885 2010 Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.

PMID 28842488 2017 Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.

PMID 17855752 2007 A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.

PMID 16609879 2006 Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

PMID 15292329 2004 Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.

PMID 15448106 2004 Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.

PMID 15115830 2004 Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

PMID 17652641 2007 A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

PMID 15448107 2004 Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.

PMID 15583126 2004 Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.

PMID 16731833 2006 Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

PMID 15580558 2005 KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

PMID 17213273 2007 Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

PMID 15583126 2004 All mutations increased resting whole-cell K(ATP) currents by reducing channel inhibition by ATP, but, in the simulated heterozygous state, mutations causing PNDM alone (R201C) produced smaller K(ATP) currents and less change in ATP sensitivity than mutations associated with severe disease (Q52R and V59G).

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

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

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

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

PMID 16731833 2006 We investigated the functional effects this mutation and another at the same residue (R50P) that led to PNDM in association with developmental delay.

PMID 15583126 2004 Our results also show that mutations in the slide helix of Kir6.2 (V59G) influence the channel kinetics, providing evidence that this domain is involved in Kir channel gating, and suggest that the efficacy of sulfonylurea therapy in PNDM may vary with genotype.

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.

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

rs104894008 in LOC105375258;GCK gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

rs387906777 in PDX1 gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 20009086 2010 A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.

PMID 12970316 2003 Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1.