(Q37130222)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

chronic mucocutaneous candidiasis

0 references

1 reference

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jean-Laurent Casanova

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Anastasia Bondarenko

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Satoshi Okada

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Pavel Rozsíval

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

David Neumann

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Lyudmyla Chernyshova

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Anna Šedivá

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Jiří Litzman

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

7

Avinash Abhyankar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

20

László Maródi

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

9

Szilvia Taskó

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

11

Leonóra Méhes

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

6

Sophie Cypowyj

1 reference

1 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

Beáta Soltész

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Beáta Tóth

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Nadejda Shabashova

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Gabriella Csorba

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Adrien Katalin Sarkadi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

Zsolt Tulassay

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

language of work or name

English

0 references

publication date

24 May 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

1 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

567-578

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

The spread of the J Project

1 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Biology of intracranial aneurysms: role of inflammation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Local and systemic alterations in signal transducers and activators of transcription (STAT) associated with human abdominal aortic aneurysms

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Whole-exome-sequencing-based discovery of human FADD deficiency

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Anticytokine autoantibodies in infectious diseases: pathogenesis and mechanisms

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Fast and accurate long-read alignment with Burrows-Wheeler transform

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

The Sequence Alignment/Map format and SAMtools

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

TNF-alpha-mediated inflammation in cerebral aneurysms: a potential link to growth and rupture

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

STAT3 mutations in the hyper-IgE syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Interferon alpha and its contribution to autoimmunity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Implications of an antiparallel dimeric structure of nonphosphorylated STAT1 for the activation-inactivation cycle

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Interferon induced Autoimmune Thyroid Disease (AITD): a model for human autoimmunity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Opposing roles of STAT1 and STAT3 in T cell-mediated hepatitis: regulation by SOCS.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

The lymphoid liver: considerations on pathways to autoimmune injury

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Augmentation of human macrophage candidacidal capacity by recombinant human myeloperoxidase and granulocyte-macrophage colony-stimulating factor.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Mechanisms of host defense against Candida species. I. Phagocytosis by monocytes and monocyte-derived macrophages

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Fungal aneurysm: case report and review of the literature

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Dephosphorylation of phosphotyrosine on STAT1 dimers requires extensive spatial reorientation of the monomers facilitated by the N-terminal domain

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Characterization and functional analysis of interferon-gamma-induced intercellular adhesion molecule-1 expression in human keratinocytes and A-431 cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Herpes in STAT1 gain-of-function mutation [corrected].

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Intracranial aneurysm associated with chronic mucocutaneous candidiasis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Nomenclature for the description of human sequence variations.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Candidal infection in the central nervous system

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3756505

Primary immunodeficiency diseases: the J Project

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101570

Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101570

Unravelling fungal immunity through primary immune deficiencies

21 January 2018

1 reference

12 December 2020

Expression of intercellular adhesion molecule-1 and lymphocyte function-associated antigen-3 on human thyroid epithelial cells in Graves' and Hashimoto's diseases

1 reference

12 December 2020

Interferon gamma-dependent induction of human intercellular adhesion molecule-1 gene expression involves activation of a distinct STAT protein complex

1 reference

12 December 2020

Education and worldwide collaboration pays off

1 reference

12 December 2020

The creation and progress of the J Project in Eastern and Central Europe

1 reference

12 December 2020

10.1136/JMEDGENET-2013-101570

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

release_kbqfrf2sqnct5nh7in3iho3lce

1 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kbqfrf2sqnct5nh7in3iho3lce

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

PubMed publication ID

23709754

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23709754%20AND%20SRC:MED&resulttype=core&format=json