Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes (Q37022929)

17 August 2017

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes (English)

1 reference

17 August 2017

0 references

1 reference

Zdenek Sumnik

6

0 references

Richard Caswell

object named as

Richard Caswell

3

0 references

Sian Ellard

object named as

Sian Ellard

11

0 references

Andrew Tym Hattersley

12

object named as

Andrew T Hattersley

1 reference

17 August 2017

1

Oscar Rubio-Cabezas

1 reference

17 August 2017

Jayne A L Minton

2

1 reference

17 August 2017

Julian P Shield

4

1 reference

17 August 2017

Dorothee Deiss

5

1 reference

17 August 2017

Amely Cayssials

7

1 reference

17 August 2017

Mathias Herr

8

1 reference

17 August 2017

Anja Loew

9

1 reference

17 August 2017

Vaughan Lewis

10

1 reference

17 August 2017

language of work or name

English

0 references

publication date

17 October 2008

1 reference

17 August 2017

1 reference

17 August 2017

32

1 reference

17 August 2017

111-116

1 reference

17 August 2017

1

1 reference

Primary immune deficiency disorders presenting as autoimmune diseases: IPEX and APECED.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

CD4+CD25+FoxP3+ regulatory T cells in autoimmune diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

Circulating antibodies to nephrin in patients with type 1 diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2606841

Permanent diabetes mellitus in the first year of life

4 September 2018

1 reference

12 December 2020

Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome

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

Type 1 diabetes mellitus associated with nephrotic syndrome

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

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy

1 reference

12 December 2020

Neonatal Type I diabetes associated with maternal echovirus 6 infection: a case report

1 reference

12 December 2020

Identifiers

DOI

10.2337/DC08-1188

1 reference

17 August 2017

1 reference

17 August 2017

1 reference