Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease (Q33255341)

24 July 2017

title

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease (English)

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24 July 2017

3

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13

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Jean-Laurent Casanova

22

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Stephanie Boisson-Dupuis

Stéphanie Boisson-Dupuis

2

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Peter D Arkwright

Peter D Arkwright

16

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Jacinta Bustamante

Jacinta Bustamante

12

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Guillaume Vogt

Guillaume Vogt

4

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Claire Soudais

Claire Soudais

9

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Ariane Chapgier

Ariane Chapgier

1

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Angela Rösen-Wolff

19

Angela Rösen-Wolff

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24 July 2017

21

Joachim Roesler

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24 July 2017

7

Armanda Casrouge

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10

Claire Fieschi

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5

Jacqueline Feinberg

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24 July 2017

Orchidée Filipe Santos

11

Orchidée Filipe Santos

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20

Klaus Magdorf

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author name string

Ada Prochnicka-Chalufour

6

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24 July 2017

Kun Yang

8

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24 July 2017

Ludovic de Beaucoudrey

14

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24 July 2017

Jean-François Emile

15

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24 July 2017

Robert D Schreiber

17

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Claudia Rolinck-Werninghaus

18

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24 July 2017

publication date

1 August 2006

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24 July 2017

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24 July 2017

volume

2

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24 July 2017

issue

8

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24 July 2017

page(s)

e131

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Creative Commons Attribution 4.0 International

24 July 2017

copyright license

start time

18 August 2006

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

21 June 2018

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Mechanisms of type-I- and type-II-interferon-mediated signalling

21 June 2018

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Structural bases of unphosphorylated STAT1 association and receptor binding

21 June 2018

1 reference

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

21 June 2018

1 reference

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21 June 2018

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Getting the message across, STAT! Design principles of a molecular signaling circuit.

21 June 2018

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STAT2 nuclear trafficking

21 June 2018

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The human model: a genetic dissection of immunity to infection in natural conditions

21 June 2018

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STATs dimerize in the absence of phosphorylation

21 June 2018

1 reference

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Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

21 June 2018

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

21 June 2018

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Stats: transcriptional control and biological impact

21 June 2018

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Cytokine signaling in 2002: new surprises in the Jak/Stat pathway

21 June 2018

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Genetic dissection of immunity to mycobacteria: the human model

21 June 2018

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Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.

21 June 2018

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

21 June 2018

1 reference

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Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion

21 June 2018

1 reference

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Interferon-gamma and interleukin-12 pathway defects and human disease

21 June 2018

1 reference

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Comparative protein structure modeling of genes and genomes

21 June 2018

1 reference

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In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma

21 June 2018

1 reference

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Cytoplasmic STAT proteins associate prior to activation.

21 June 2018

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21 June 2018

The Protein Data Bank

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A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

JAK/STAT-deficient cell lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Biomolecular interaction analysis of IFN gamma-induced signaling events in whole-cell lysates: prevalence of latent STAT1 in high-molecular weight complexes

21 June 2018

1 reference

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How cells respond to interferons

21 June 2018

1 reference

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Three-dimensional structure of the Stat3beta homodimer bound to DNA

21 June 2018

1 reference

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Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA

21 June 2018

1 reference

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Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

21 June 2018

1 reference

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Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

21 June 2018

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Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

21 June 2018

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Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis

21 June 2018

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21 June 2018

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Stat2 is a transcriptional activator that requires sequence-specific contacts provided by stat1 and p48 for stable interaction with DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

MOLMOL: a program for display and analysis of macromolecular structures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Preassociation of STAT1 with STAT2 and STAT3 in separate signalling complexes prior to cytokine stimulation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Targeted disruption of the mouse Stat1 gene results in compromised innate immunity to viral disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Targeted disruption of the Stat1 gene in mice reveals unexpected physiologic specificity in the JAK-STAT signaling pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Jak-STAT pathways and transcriptional activation in response to IFNs and other extracellular signaling proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Ligand-induced IFN gamma receptor tyrosine phosphorylation couples the receptor to its signal transduction system (p91)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Tyrosine-phosphorylated Stat1 and Stat2 plus a 48-kDa protein all contact DNA in forming interferon-stimulated-gene factor 3

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Role of STAT2 in the alpha interferon signaling pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Cough, fatigue and bronchopulmonary disease in two immunocompetent children. Bronchopulmonary infection caused by M. avium.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1550284

Detection of intracellular phosphorylated STAT-1 by flow cytometry

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16934001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16934001

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.0020131

1 reference

24 July 2017

1 reference

24 July 2017

1 reference