Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment (Q36194882)

12 August 2017

1 reference

title

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment (English)

1 reference

12 August 2017

Andrew Tym Hattersley

series ordinal

2

object named as

Andrew T Hattersley

1 reference

12 August 2017

Annabelle S Slingerland

series ordinal

1

1 reference

PubMed ID

16019717

12 August 2017

language of work or name

English

0 references

publication date

1 January 2005

1 reference

12 August 2017

1 reference

12 August 2017

37

1 reference

12 August 2017

3

1 reference

12 August 2017

186-195

1 reference

Physiological and pathophysiological roles of ATP-sensitive K+ channels

12 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Neonatal and very-early-onset diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

An imprinted locus associated with transient neonatal diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Transient neonatal diabetes, a disorder of imprinting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Hnf6 and Tcf2 (MODY5) are linked in a gene network operating in a precursor cell domain of the embryonic pancreas

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

The GCN2 eIF2alpha kinase is required for adaptation to amino acid deprivation in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Identification and characterization of pancreatic eukaryotic initiation factor 2 alpha-subunit kinase, PEK, involved in translational control

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

Permanent neonatal diabetes in an Asian infant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510007287

10.1080/07853890510007287

21 January 2018

Identifiers

DOI

1 reference

release_ac2uftnidne4vasle5bmhesrou

12 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ac2uftnidne4vasle5bmhesrou

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

16019717

1 reference

PubMed ID

16019717