(Q30474286)

1 November 2017

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

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1 November 2017

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Sian Ellard

5

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Andrew Tym Hattersley

6

object named as

Andrew T Hattersley

1 reference

1 November 2017

Oscar Rubio-Cabezas

1

1 reference

1 November 2017

Jayne A L Minton

2

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1 November 2017

Iren Kantor

3

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1 November 2017

Denise Williams

4

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1 November 2017

language of work or name

English

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publication date

23 June 2010

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1 November 2017

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1 November 2017

59

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1 November 2017

9

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1 November 2017

2326-2331

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Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

1 November 2017

start time

27 August 2021

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Pancreatic transcription factors and their role in the birth, life and survival of the pancreatic beta cell

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

On the origin of the beta cell

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Transcription factors regulating beta-cell function

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

NeuroD: the predicted and the surprising

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Minireview: transcriptional regulation in pancreatic development

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Mutations in PTF1A cause pancreatic and cerebellar agenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Loss of BETA2/NeuroD leads to malformation of the dentate gyrus and epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

NeuroD is required for differentiation of the granule cells in the cerebellum and hippocampus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

The NeuroD1/BETA2 sequences essential for insulin gene transcription colocalize with those necessary for neurogenesis and p300/CREB binding protein binding

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

BETA2/NeuroD1 null mice: a new model for transcription factor-dependent photoreceptor degeneration.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

MODY in Iceland is associated with mutations in HNF-1alpha and a novel mutation in NeuroD1.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Neonatal diabetes mellitus due to complete glucokinase deficiency

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

NeuroD regulates multiple functions in the developing neural retina in rodent.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2927956

Permanent diabetes mellitus in the first year of life

26 November 2018

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

A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family

1 reference

12 December 2020

Neonatal diabetes mellitus

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12 December 2020

Identifiers

DOI

10.2337/DB10-0011

1 reference

1 November 2017

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1 November 2017

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