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

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1 March 2020

1 reference

chronic mucocutaneous candidiasis

0 references

1 reference

16

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1 March 2020

Jean-Laurent Casanova

17

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Anastasia Bondarenko

4

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Satoshi Okada

5

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Pavel Rozsíval

12

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1 March 2020

David Neumann

13

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Lyudmyla Chernyshova

14

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Anna Šedivá

18

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1 March 2020

Jiří Litzman

19

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7

Avinash Abhyankar

1 reference

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1 March 2020

20

László Maródi

1 reference

1 March 2020

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9

Szilvia Taskó

1 reference

1 March 2020

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11

Leonóra Méhes

1 reference

1 March 2020

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6

Sophie Cypowyj

1 reference

1 March 2020

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Beáta Soltész

1

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1 March 2020

Beáta Tóth

2

1 reference

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1 March 2020

Nadejda Shabashova

3

1 reference

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1 March 2020

Gabriella Csorba

8

1 reference

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1 March 2020

Adrien Katalin Sarkadi

10

1 reference

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Zsolt Tulassay

15

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language of work or name

English

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publication date

24 May 2013

1 reference

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Journal of Medical Genetics

1 March 2020

published in

1 reference

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volume

50

1 reference

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issue

9

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page(s)

567-578

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The spread of the J Project

1 March 2020

cites work

1 reference

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

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

14 September 2017

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Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects

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

14 September 2017

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

14 September 2017

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

14 September 2017

1 reference

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STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

14 September 2017

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

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

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

14 September 2017

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14 September 2017

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

14 September 2017

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29 September 2017

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Intracranial aneurysm associated with chronic mucocutaneous candidiasis

3 September 2018

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Nomenclature for the description of human sequence variations.

3 September 2018

1 reference

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Candidal infection in the central nervous system

3 September 2018

1 reference

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Primary immunodeficiency diseases: the J Project

3 September 2018

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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

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Crossref

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

Unravelling fungal immunity through primary immune deficiencies

21 January 2018

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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

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12 December 2020

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

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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

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1 March 2020

Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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

1 March 2020

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