(Q42975129)

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Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding.

scientific article published on 18 July 2014

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042743%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

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Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042743%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

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chronic mucocutaneous candidiasis

0 references

9

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10 March 2020

Bodo Grimbacher

10

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Bodo Grimbacher

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Europe PubMed Central

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10 March 2020

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Glynis Frans

1

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10 March 2020

Leen Moens

2

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10 March 2020

Heidi Schaballie

3

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10 March 2020

Lien Van Eyck

4

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Europe PubMed Central

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10 March 2020

Heleen Borgers

5

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10 March 2020

Margareta Wuyts

6

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10 March 2020

Doreen Dillaerts

7

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10 March 2020

Edith Vermeulen

8

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10 March 2020

Andrew Cant

11

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10 March 2020

Dominique Declerck

12

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10 March 2020

Marleen Peumans

13

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Europe PubMed Central

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10 March 2020

Marleen Renard

14

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10 March 2020

Kris De Boeck

15

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Europe PubMed Central

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10 March 2020

Ilse Hoffman

16

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Europe PubMed Central

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10 March 2020

Inge François

17

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Europe PubMed Central

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10 March 2020

Adrian Liston

18

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10 March 2020

Frank Claessens

19

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Europe PubMed Central

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10 March 2020

Xavier Bossuyt

20

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10 March 2020

Isabelle Meyts

21

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10 March 2020

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18 July 2014

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10 March 2020

The Journal of Allergy and Clinical Immunology

1 reference

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10 March 2020

134

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10 March 2020

5

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10 March 2020

1209-13.e6

1 reference

Europe PubMed Central

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10 March 2020

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4220006/fullTextXML

based on heuristic

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

Olmsted syndrome: exploration of the immunological phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

The rules of DNA recognition by the androgen receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

The immunohistochemical localization of the interferon-gamma and granulocyte colony-stimulating factor receptors during early amelogenesis in rat molars

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

26 May 2018

Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4220006

1 December 2018

The immunohistochemical localization of signal-transduction pathway components Jak1, Jak2, Jak3, Tyk2 and STAT-1 during early enamel and dentine formation in rat molars

1 reference

https://pubmed.ncbi.nlm.nih.gov/25042743

12 December 2020

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inferred from PubMed ID database lookup

Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/25042743

12 December 2020

based on heuristic

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Identifiers

10.1016/J.JACI.2014.05.044

1 reference

Europe PubMed Central

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10 March 2020

PMC publication ID

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Europe PubMed Central

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10 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25042743%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

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