(Q52020968)

English

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.

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Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

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. (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

1 reference

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object named as

S Ellard

4

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author name string

S E Flanagan

1

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

E L Edghill

2

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

A L Gloyn

3

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

A T Hattersley

5

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

publication date

12 April 2006

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

49

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Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

6

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

1190-1197

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal and very-early-onset diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R2

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Crystal structure of the potassium channel KirBac1.1 in the closed state

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular determinants of KATP channel inhibition by ATP.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Focus on Kir6.2: a key component of the ATP-sensitive potassium channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Permanent diabetes mellitus in the first year of life

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activating Mutations in the KCNJ11 Gene Encoding the ATP-Sensitive K+ Channel Subunit Kir6.2 Are Rare in Clinically Defined Type 1 Diabetes Diagnosed Before 2 Years

1 reference

https://pubmed.ncbi.nlm.nih.gov/16609879

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00125-006-0246-Z

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/16609879

ResearchGate publication ID

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