Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. - Wikidata - wikimedia - TriplyDB

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

http://www.wikidata.org/entity/Q27865219

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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia Diazoxide promotes oligodendrocyte precursor cell proliferation and myelination Sulfonylurea receptors regulate the channel pore in ATP-sensitive potassium channels via an intersubunit salt bridge PICMI: mapping point mutations on genomes Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.Characterization and functional restoration of a potassium channel Kir6.2 pore mutation identified in congenital hyperinsulinism Congenital hyperinsulinism: current status and future perspectives.The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels.[Hyperinsulinemic hypoglycemia of the infancy: analysis of clinical data from a Brazilian sample].Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1 Muscle KATP channels: recent insights to energy sensing and myoprotection Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism.Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.Engineered interaction between SUR1 and Kir6.2 that enhances ATP sensitivity in KATP channels.Genotype and phenotype correlations in 417 children with congenital hyperinsulinism Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.The molecular mechanisms, diagnosis and management of congenital hyperinsulinism Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.Channeling dysglycemia: ion-channel variations perturbing glucose homeostasis.Decomposition of slide helix contributions to ATP-dependent inhibition of Kir6.2 channels A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet.Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.

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Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

http://www.wikidata.org/entity/Q27865219

description

2008 nî lūn-bûn

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2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2008 թվականի օգոստոսին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... ominant KATP channel mutations

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... minant KATP channel mutations.

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Clinical characteristics and b ...... minant KATP channel mutations.

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Arupa Ganguly

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Cheryl Hanna

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Courtney MacMullen

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Paul Thornton

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Sara E Pinney

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Show-Ling Shyng

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Susan Becker

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Yu-Wen Lin

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P2860

Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

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

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels

Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation

Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism.

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

Adenosine diphosphate as an intracellular regulator of insulin secretion.

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4836785

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10.1172/JCI35414

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8

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118

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Charles A Stanley

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2008-08-01T00:00:00Z

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18596924

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2441858

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