Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations

scientific article

Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1007/S00125-011-2207-4
P932PMC publication ID3168751
P698PubMed publication ID21674179
P5875ResearchGate publication ID51220156

P50authorSian EllardQ58327173
P2093author name stringA Tinker
K Hussain
J McKiernan
J P Shield
R R Kapoor
S E Flanagan
A M Thomas
C T James
S C Harmer
P2860cites workMutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancyQ24321513
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutationsQ27865219
ATP-sensitive potassium channelopathies: focus on insulin secretionQ33905803
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancyQ34308497
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancyQ34502736
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemiaQ36032973
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescenceQ36756556
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.Q37270892
Advances in the diagnosis and management of hyperinsulinemic hypoglycemiaQ37376005
Defective insulin secretion and enhanced insulin action in KATP channel-deficient mice.Q37466265
Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinismQ40791919
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutationQ43204861
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channelsQ43898224
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.Q44297979
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptorQ44564067
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptorQ45050593
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancyQ47903960
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.Q51797847
Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or AdulthoodQ64355396
Comparing diabetes prevalence between African Americans and Whites of similar socioeconomic statusQ81523724
P433issue10
P921main subjecthypoglycemiaQ202758
P304page(s)2575-2583
P577publication date2011-06-15
P1433published inDiabetologiaQ5270140
P1476titleHyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations
P478volume54

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cites work (P2860)
Q36311571ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes
Q36688839Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism
Q64235767Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F Mutation
Q34908832Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
Q37465263Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
Q35950911Endocrine manifestations related to inherited metabolic diseases in adults
Q60922248High-frequency actionable pathogenic exome variants in an average-risk cohort
Q26749617Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms
Q90416789Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management
Q93074697Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencing
Q97645127Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism
Q64940613Ion Transporters, Channelopathies, and Glucose Disorders.
Q64962270Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options.
Q36960085Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes
Q35427798Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP
Q92974124Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping
Q36820673Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation
Q64100352The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism
Q64042979Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia