scholarly article | Q13442814 |
P50 | author | Sian Ellard | Q58327173 |
P2093 | author name string | A Tinker | |
K Hussain | |||
J McKiernan | |||
J P Shield | |||
R R Kapoor | |||
S E Flanagan | |||
A M Thomas | |||
C T James | |||
S C Harmer | |||
P2860 | cites work | Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy | Q24321513 |
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations | Q27865219 | ||
ATP-sensitive potassium channelopathies: focus on insulin secretion | Q33905803 | ||
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy | Q34308497 | ||
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy | Q34502736 | ||
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia | Q36032973 | ||
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence | Q36756556 | ||
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. | Q37270892 | ||
Advances in the diagnosis and management of hyperinsulinemic hypoglycemia | Q37376005 | ||
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 hyperinsulinism | Q40791919 | ||
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation | Q43204861 | ||
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels | Q43898224 | ||
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 receptor | Q44564067 | ||
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor | Q45050593 | ||
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy | Q47903960 | ||
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 Adulthood | Q64355396 | ||
Comparing diabetes prevalence between African Americans and Whites of similar socioeconomic status | Q81523724 | ||
P433 | issue | 10 | |
P921 | main subject | hypoglycemia | Q202758 |
P304 | page(s) | 2575-2583 | |
P577 | publication date | 2011-06-15 | |
P1433 | published in | Diabetologia | Q5270140 |
P1476 | title | Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations | |
P478 | volume | 54 |
Q36311571 | ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes |
Q36688839 | Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism |
Q64235767 | Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F Mutation |
Q34908832 | Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy |
Q37465263 | Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time |
Q35950911 | Endocrine manifestations related to inherited metabolic diseases in adults |
Q60922248 | High-frequency actionable pathogenic exome variants in an average-risk cohort |
Q26749617 | Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms |
Q90416789 | Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management |
Q93074697 | Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencing |
Q97645127 | Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism |
Q64940613 | Ion Transporters, Channelopathies, and Glucose Disorders. |
Q64962270 | Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options. |
Q36960085 | Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes |
Q35427798 | Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP |
Q92974124 | Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping |
Q36820673 | Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation |
Q64100352 | The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism |
Q64042979 | Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia |