(Q36635415)

English

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency

scientific article published on 6 December 2012

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Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Andrew Tym Hattersley

object named as

Andrew T Hattersley

6

0 references

object named as

Sarah E Flanagan

3

0 references

object named as

Sian Ellard

7

0 references

author name string

Elisa De Franco

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Charles Shaw-Smith

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Maggie H Shepherd

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

International NDM Consortium

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

language of work or name

0 references

publication date

6 December 2012

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

62

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

993-997

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

copyright license

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

27 August 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

GATA6 haploinsufficiency causes pancreatic agenesis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

Historical perspective: beginnings of the beta-cell: current perspectives in beta-cell development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

Identification of GATA6 sequence variants in patients with congenital heart defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

Rfx6 directs islet formation and insulin production in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

Mutations in PTF1A cause pancreatic and cerebellar agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

Transcription factor GATA-6 is expressed in the endocrine and GATA-4 in the exocrine pancreas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

30 September 2017

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

20 September 2018

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

20 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

20 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3581234

20 September 2018

Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23

1 reference

https://pubmed.ncbi.nlm.nih.gov/23223019

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23223019

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2337/DB12-0885

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

0 references

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