Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan

Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China

(2016) Bingyan Cao et al.   Journal of Diabetes Research

Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations

(2015) Jacques Beltrand et al.   DIABETES CARE

Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes

(2015) Brian W. Thurber et al.   DIABETOLOGIA

Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds

(2015) Miaoying Zhang et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

(2015) Elisa De Franco et al.   LANCET

Systemic Administration of Glibenclamide Fails to Achieve Therapeutic Levels in the Brain and Cerebrospinal Fluid of Rodents

(2015) Carolina Lahmann et al.   PLoS One

The diagnosis and management of monogenic diabetes in children and adolescents

(2014) Oscar Rubio-Cabezas et al.   PEDIATRIC DIABETES

Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: A case report

(2013) Jeong Won Heo et al.   DIABETES RESEARCH AND CLINICAL PRACTICE

Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis, and Therapeutic Options

(2013) Oscar Rubio-Cabezas et al.   Hormone Research in Paediatrics

KCNJ11 in-frame 15-bp deletion leading to glibenclamide- responsive neonatal diabetes mellitus in a Chinese child

(2013) Wenli Yang et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study

(2013) Kanetee Busiah et al.   Lancet Diabetes & Endocrinology

Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children

(2012) S Jahnavi et al.   CLINICAL GENETICS

Visuomotor Performance in KCNJ11-Related Neonatal Diabetes Is Impaired in Children With DEND-Associated Mutations and May Be Improved by Early Treatment With Sulfonylureas

(2012) R. P. Shah et al.   DIABETES CARE

Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism

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

DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas

(2012) Sachie Itoh et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Diabetes caused by Kir6.2 mutation: Successful treatment with oral glibenclamide switched from continuous subcutaneous insulin infusion in the early phase of the disease

(2012) Nobuhiko Nagano et al.   PEDIATRICS INTERNATIONAL

Long-term response to sulfonylurea in a patient with diabetes due to mutation in the KCNJ11 gene

(2011) Marcio F. Vendramini et al.   Arquivos Brasileiros de Endocrinologia e Metabologia

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

KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life

(2011) Oscar RubioCabezas et al.   PEDIATRIC DIABETES

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

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism

(2009) Kenju Shimomura et al.   EMBO Molecular Medicine

The KATP Channel and Neonatal Diabetes

(2009) Kenju SHIMOMURA   ENDOCRINE JOURNAL

Transfer from Insulin to Sulfonylurea Treatment in a Chinese Patient with Permanent Neonatal Diabetes Mellitus due to a KCNJ11 R201H Mutation

(2009) X. Xiao et al.   HORMONE AND METABOLIC RESEARCH

Analysis of Two KCNJ11 Neonatal Diabetes Mutations, V59G and V59A, and the Analogous KCNJ8 I60G Substitution

(2009) Marcus Winkler et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation

(2008) A. S. Slingerland et al.   DIABETIC MEDICINE

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications

(2008) P. Tammaro et al.   DIABETOLOGIA

Update of mutations in the genes encoding the pancreatic beta-cell KATPchannel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

(2008) Sarah E. Flanagan et al.   HUMAN MUTATION

The G53D Mutation in Kir6.2 (KCNJ11) Is Associated with Neonatal Diabetes and Motor Dysfunction in Adulthood that Is Improved with Sulfonylurea Therapy

(2007) Joseph C. Koster et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM