(Q30466668)

11 August 2017

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene (English)

1 reference

11 August 2017

1 reference

8

0 references

Philippe Froguel

18

object named as

Philippe Froguel

0 references

Amélie Bonnefond

object named as

Amélie Bonnefond

1

0 references

Michel Marre

object named as

Michel Marre

7

0 references

author name string

Julien Philippe

2

1 reference

11 August 2017

Emmanuelle Durand

3

1 reference

11 August 2017

Aurélie Dechaume

4

1 reference

11 August 2017

Marlène Huyvaert

5

1 reference

11 August 2017

Louise Montagne

6

1 reference

11 August 2017

Isabelle Fajardy

9

1 reference

11 August 2017

Anne Vambergue

10

1 reference

11 August 2017

Vincent Vatin

11

1 reference

11 August 2017

Jérôme Delplanque

12

1 reference

11 August 2017

David Le Guilcher

13

1 reference

11 August 2017

Franck De Graeve

14

1 reference

11 August 2017

Cécile Lecoeur

15

1 reference

11 August 2017

Olivier Sand

16

1 reference

11 August 2017

Martine Vaxillaire

17

1 reference

11 August 2017

language of work or name

English

0 references

publication date

11 June 2012

1 reference

11 August 2017

1 reference

11 August 2017

7

1 reference

11 August 2017

6

1 reference

11 August 2017

e37423

1 reference

Creative Commons Attribution 4.0 International

11 August 2017

start time

11 June 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Exome sequencing as a tool for Mendelian disease gene discovery

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

MODY: history, genetics, pathophysiology, and clinical decision making

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

The emerging genetics of type 2 diabetes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Diagnosis and treatment of neonatal diabetes: a United States experience

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Genetic basis of maturity-onset diabetes of the young

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

A view of sur/KIR6.X, KATP channels

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity

14 July 2018

2 references

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

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

26 November 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

Sulfonylurea-Responsive Diabetes in Childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

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/10.1371%2FJOURNAL.PONE.0037423

Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

Heterozygous ABCC8 mutations are a cause of MODY

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

Mutation screening in 18 Caucasian families suggest the existence of other MODY genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0037423

Transient Neonatal Diabetes due to Kcnj11 Mutation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372463

Neonatal diabetes mellitus

26 November 2018

1 reference

12 December 2020

No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes

1 reference

12 December 2020

[An epidemiologic survey from a network of French Health Examination Centres, (D.E.S.I.R.): epidemiologic data on the insulin resistance syndrome]

1 reference

12 December 2020

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

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

10.1371/JOURNAL.PONE.0037423

Identifiers

DOI

1 reference

11 August 2017

0 references

1 reference

11 August 2017

1 reference