Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease (Q34429745)

2 August 2017

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease (English)

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2 August 2017

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20

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2 August 2017

Richard Caswell

4

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Timothy J McDonald

Timothy J McDonald

7

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Mikko Seppänen

Mikko Seppänen

16

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Hana Lango Allen

Hana Lango Allen

5

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Satu Mustjoki

Satu Mustjoki

18

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Andrew Tym Hattersley

Andrew T Hattersley

23

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Sarah Flanagan

Sarah E Flanagan

1

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Sian Ellard

Sian Ellard

22

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Noel G Morgan

Noel G Morgan

21

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Åke Lernmark

17

Åke Lernmark

1 reference

2 August 2017

14

Nuala P Murphy

1 reference

2 August 2017

Emma Haapaniemi

2

1 reference

2 August 2017

Mark A Russell

3

1 reference

2 August 2017

Elisa De Franco

6

1 reference

2 August 2017

Hanna Rajala

8

1 reference

2 August 2017

Anita Ramelius

9

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2 August 2017

John Barton

10

1 reference

2 August 2017

Kaarina Heiskanen

11

1 reference

2 August 2017

Tarja Heiskanen-Kosma

12

1 reference

2 August 2017

Merja Kajosaari

13

1 reference

2 August 2017

Tatjana Milenkovic

15

1 reference

2 August 2017

Timo Otonkoski

19

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2 August 2017

language of work or name

English

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publication date

20 July 2014

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2 August 2017

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2 August 2017

46

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8

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2 August 2017

812-814

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https://scigraph.springernature.com/pub.10.1038/ng.3040

2 August 2017

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cites work

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Differential effects of interleukin-13 and interleukin-6 on Jak/STAT signaling and cell viability in pancreatic β-cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Th17 cells in type 1 diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Somatic STAT3 mutations in large granular lymphocytic leukemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

GATA6 haploinsufficiency causes pancreatic agenesis in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Somatic mutations activating STAT3 in human inflammatory hepatocellular adenomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

STAT3 mutations in the hyper-IgE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

STAT3 regulates cytokine-mediated generation of inflammatory helper T cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129488

Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3040

Variants Within STAT Genes Reveal Association with Anticitrullinated Protein Antibody-negative Rheumatoid Arthritis in 2 European Populations

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3040

Stats: transcriptional control and biological impact

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.3040

Cutting edge: An in vivo requirement for STAT3 signaling in TH17 development and TH17-dependent autoimmunity

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25038750

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.3040

1 reference

Dimensions Publication ID

2 August 2017

0 references

1 reference

2 August 2017

1 reference