A novel STAT1 mutation associated with disseminated mycobacterial disease. - Wikidata - awgldk - TriplyDB

A novel STAT1 mutation associated with disseminated mycobacterial disease.

A novel STAT1 mutation associated with disseminated mycobacterial disease.

http://www.wikidata.org/entity/Q33959089

about

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity '"Why me, why now?" Using clinical immunology and epidemiology to explain who gets nontuberculous mycobacterial infection Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA.Clinically relevant dimer interface mutants of STAT1 transcription factor exhibit differential gene expression.Host-Mycobacterium avium subsp. paratuberculosis interactome reveals a novel iron assimilation mechanism linked to nitric oxide stress during early infection.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Inborn errors of human JAKs and STATs.Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activity Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.Response to interferons and antibacterial innate immunity in the absence of tyrosine-phosphorylated STAT1 A genetic perspective on granulomatous diseases with an emphasis on mycobacterial infections.Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.Periodontal and other oral manifestations of immunodeficiency diseases.Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.A Positive Feedback Amplifier Circuit That Regulates Interferon (IFN)-Stimulated Gene Expression and Controls Type I and Type II IFN Responses.

P2860

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P2860

A novel STAT1 mutation associated with disseminated mycobacterial disease.

http://www.wikidata.org/entity/Q33959089

description

2012 nî lūn-bûn

@nan

2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

@yue

2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

@zh-mo

2012年論文

@zh-tw

2012年论文

@wuu

name

A novel STAT1 mutation associated with disseminated mycobacterial disease.

@ast

A novel STAT1 mutation associated with disseminated mycobacterial disease.

@en

type

label

A novel STAT1 mutation associated with disseminated mycobacterial disease.

@ast

A novel STAT1 mutation associated with disseminated mycobacterial disease.

@en

prefLabel

A novel STAT1 mutation associated with disseminated mycobacterial disease.

@ast

A novel STAT1 mutation associated with disseminated mycobacterial disease.

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S10875-012-9659-2

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Journal of Clinical Immunology

P1476

A novel STAT1 mutation associated with disseminated mycobacterial disease.

@en

P2093

Amy P Hsu

http://www.w3.org/2001/XMLSchema#string

Christine Spalding

http://www.w3.org/2001/XMLSchema#string

Dalton L Dias

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Elizabeth McFarland

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Elizabeth P Sampaio

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Ervand Kristosturyan

http://www.w3.org/2001/XMLSchema#string

Hannelore I Bax

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Joseph Pechacek

http://www.w3.org/2001/XMLSchema#string

Li Ding

http://www.w3.org/2001/XMLSchema#string

Michelle L Paulson

http://www.w3.org/2001/XMLSchema#string

P2860

Tyrosine phosphorylation regulates the partitioning of STAT1 between different dimer conformations

How cells respond to interferons

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

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

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

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

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

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

A partial form of recessive STAT1 deficiency in humans.

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

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s10875-012-9659-2

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681-689

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scholarly article

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10.1007/S10875-012-9659-2

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4

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32

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