Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. (Q37797962)

23 August 2017

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. (English)

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23 August 2017

Sarah E Flanagan

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Sian Ellard

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Sian Ellard

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3

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author name string

Emma L Edghill

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1

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23 August 2017

1 September 2010

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Reviews in Endocrine and Metabolic Disorders

23 August 2017

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23 August 2017

11

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23 August 2017

3

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23 August 2017

193-198

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https://scigraph.springernature.com/pub.10.1007/s11154-010-9149-x

23 August 2017

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cites work

Update in neonatal diabetes

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11154-010-9149-X

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

21 January 2018

1 reference

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Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11154-010-9149-X

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

21 January 2018

1 reference

12 December 2020

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

1 reference

12 December 2020

Cloning and functional expression of the cDNA encoding a novel ATP-sensitive potassium channel subunit expressed in pancreatic beta-cells, brain, heart and skeletal muscle

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period

1 reference

12 December 2020

Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect

1 reference

12 December 2020

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

12 December 2020

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

1 reference

12 December 2020

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

1 reference

12 December 2020

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome

1 reference

12 December 2020

Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin

1 reference

12 December 2020

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities

1 reference

12 December 2020

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

1 reference

12 December 2020

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome.

1 reference

12 December 2020

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

1 reference

12 December 2020

Sulphonylurea action revisited: the post-cloning era.

1 reference

12 December 2020

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

1 reference

12 December 2020

High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

1 reference

12 December 2020

Rfx6 directs islet formation and insulin production in mice and humans

1 reference

12 December 2020

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

1 reference

12 December 2020

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.

1 reference

12 December 2020

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes

1 reference

12 December 2020

A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes

1 reference

12 December 2020

Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

1 reference

12 December 2020

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

1 reference

12 December 2020

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

1 reference

12 December 2020

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

1 reference

12 December 2020

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

1 reference

12 December 2020

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

1 reference

12 December 2020

Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births

1 reference

12 December 2020

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months

1 reference

12 December 2020

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings

1 reference

12 December 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

1 reference

12 December 2020

Insulin gene mutations as a cause of permanent neonatal diabetes

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

1 reference

12 December 2020

Tandem function of nucleotide binding domains confers competence to sulfonylurea receptor in gating ATP-sensitive K+ channels.

1 reference

12 December 2020

An imprinted locus associated with transient neonatal diabetes mellitus

1 reference

12 December 2020

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

12 December 2020

Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function

1 reference

12 December 2020

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

1 reference

12 December 2020

K(ATP) channelopathies in the pancreas

1 reference

12 December 2020

Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel

1 reference

12 December 2020

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes

1 reference

12 December 2020

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

1 reference

12 December 2020

Stimulus-secretion coupling in pancreatic beta cells.

1 reference

12 December 2020

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

1 reference

12 December 2020

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

1 reference

12 December 2020

Permanent diabetes mellitus in the first year of life

1 reference

12 December 2020

Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM.

1 reference

12 December 2020

10.1007/S11154-010-9149-X

Identifiers

DOI

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23 August 2017

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PubMed ID

20922570