A novel STAT1 mutation associated with disseminated mycobacterial disease (Q33959089)

30 July 2017

A novel STAT1 mutation associated with disseminated mycobacterial disease (English)

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30 July 2017

10

Gulbu Uzel

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30 July 2017

Elizabeth J. McFarland

12

object named as

Elizabeth McFarland

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30 July 2017

Elizabeth P Sampaio

1

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30 July 2017

Hannelore I Bax

2

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30 July 2017

Amy P Hsu

3

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30 July 2017

Ervand Kristosturyan

4

1 reference

30 July 2017

Joseph Pechacek

5

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30 July 2017

Prabha Chandrasekaran

6

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30 July 2017

Michelle L Paulson

7

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30 July 2017

Dalton L Dias

8

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30 July 2017

Christine Spalding

9

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30 July 2017

Li Ding

11

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30 July 2017

Steven M Holland

13

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30 July 2017

29 February 2012

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Journal of Clinical Immunology

30 July 2017

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30 July 2017

32

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4

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681-689

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https://scigraph.springernature.com/pub.10.1007/s10875-012-9659-2

30 July 2017

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cites work

Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Molecular immunity to mycobacteria: knowledge from the mutation and phenotype spectrum analysis of Mendelian susceptibility to mycobacterial diseases.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

A partial form of recessive STAT1 deficiency in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Tyrosine phosphorylation regulates the partitioning of STAT1 between different dimer conformations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Role of STAT3 in type I interferon responses. Negative regulation of STAT1-dependent inflammatory gene activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

Role of the STAT1-SH2 domain and STAT2 in the activation and nuclear translocation of STAT1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

How cells respond to interferons

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

A STAT protein domain that determines DNA sequence recognition suggests a novel DNA-binding domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4112946

The clinical spectrum of patients with deficiency of Signal Transducer and Activator of Transcription-1.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10875-012-9659-2

Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10875-012-9659-2

Novel STAT1 alleles in a patient with impaired resistance to mycobacteria.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10875-012-9659-2

10.1007/S10875-012-9659-2

21 January 2018

Identifiers

DOI

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30 July 2017

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1 reference

30 July 2017

1 reference