Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations inABCC8

Chronic ivacaftor treatment: Getting F508del-CFTR into more trouble?

(2014) Marcus A. Mall et al.   Journal of Cystic Fibrosis

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

(2013) Ritika R Kapoor et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Carbamazepine as a Novel Small Molecule Corrector of Trafficking-impaired ATP-sensitive Potassium Channels Identified in Congenital Hyperinsulinism

(2013) Pei-Chun Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

(2012) K. E. Snider et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2011) R. Mannikko et al.   DIABETES

Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the  -Cell Sulfonylurea Receptor SUR1

(2011) C. M. MacMullen et al.   DIABETES

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia

(2010) SE Flanagan et al.   CLINICAL GENETICS

Molecular and Clinical Analysis of Japanese Patients with Persistent Congenital Hyperinsulinism: Predominance of Paternally Inherited Monoallelic Mutations in the KATPChannel Genes

(2010) Tohru Yorifuji et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism

(2010) C. Bellanne-Chantelot et al.   JOURNAL OF MEDICAL GENETICS

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

(2008) Sara E. Pinney et al.   JOURNAL OF CLINICAL INVESTIGATION

SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator

(2008) J. Aittoniemi et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES