The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Item
http://www.wikidata.org/entity/Q37004539
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityBacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseasesA novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonellaA novel internalization motif regulates human IFN-γ R1 endocytosis.Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial diseaseHeterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitisControl of T helper cell differentiation through cytokine receptor inclusion in the immunological synapse.Intact IFN-γR1 expression and function distinguishes Langerhans cell histiocytosis from mendelian susceptibility to mycobacterial disease.IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes.Clinical and host genetic characteristics of Mendelian susceptibility to mycobacterial diseases in Japan.Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency
P2860

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction.

Item
http://www.wikidata.org/entity/Q37004539
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 18 May 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The novel IFNGR1 mutation 774d ...... ron-gamma signal transduction.
@en
The novel IFNGR1 mutation 774d ...... ron-gamma signal transduction.
@nl
type
label
The novel IFNGR1 mutation 774d ...... ron-gamma signal transduction.
@en
The novel IFNGR1 mutation 774d ...... ron-gamma signal transduction.
@nl
prefLabel
The novel IFNGR1 mutation 774d ...... ron-gamma signal transduction.
@en
The novel IFNGR1 mutation 774d ...... ron-gamma signal transduction.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
The novel IFNGR1 mutation 774d ...... ron-gamma signal transduction.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932