Associated Papers
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
40225155 (PubMed )
Supplement: 8857940.f1.pdf
Evaluating inositol phospholipid interactions with inward rectifier potassium channels and characterising their role in disease.
Pipatpolkai T et al.
Communications Chemistry, 2020
36703430 (PubMed )
Supplement: 42004_2020_391_MOESM2_ESM.pdf
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
Männistö JME et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Flanagan SE et al.
Human Mutation, 2009
Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis.
Haider S et al.
The Embo Journal, 2007
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Gloyn AL et al.
Human Mutation, 2006
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
Henwood MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population.
Reimann F et al.
Diabetologia, 2003
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.
Huopio H et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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