Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan (Q39342397)

11 September 2017

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

1 reference

neonatal diabetes mellitus

11 September 2017

1 reference

Yukiko Hashimoto

1

1 reference

11 September 2017

Sumito Dateki

2

1 reference

11 September 2017

Masakazu Hirose

3

1 reference

11 September 2017

Kenichi Satomura

4

1 reference

11 September 2017

Hirotake Sawada

5

1 reference

11 September 2017

Haruo Mizuno

6

1 reference

11 September 2017

Shigetaka Sugihara

7

1 reference

11 September 2017

Koichi Maruyama

8

1 reference

11 September 2017

Tatsuhiko Urakami

9

1 reference

11 September 2017

Hidenori Sugawara

10

1 reference

11 September 2017

Kenji Shirai

11

1 reference

11 September 2017

Tohru Yorifuji

12

1 reference

11 September 2017

29 September 2016

1 reference

11 September 2017

1 reference

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

11 September 2017

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

The K(ATP) channel and neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

The Walter B. Cannon Physiology in Perspective Lecture, 2007. ATP-sensitive K+ channels and disease: from molecule to malady.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Molecular basis of neonatal diabetes in Japanese patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Transfer from insulin to sulfonylurea treatment in a chinese patient with permanent neonatal diabetes mellitus due to a KCNJ11 R201H mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

The diagnosis and management of monogenic diabetes in children and adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation i

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FPEDI.12447

21 January 2018

Identifiers

DOI

10.1111/PEDI.12447

1 reference

11 September 2017

1 reference