The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.
about
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiencyTwo mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiencyAdvances of gene therapy for primary immunodeficienciesMolecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatmentSevere combined immunodeficiencies (SCID)The effects of IL2Rgamma knockout on depression and contextual memoryJAK and MPL mutations in myeloid malignancies.The molecular role of the common gamma c subunit in signal transduction reveals functional asymmetry within multimeric cytokine receptor complexesFrom caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling.Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis.Gender-related cytokine patterns in sera of schistosomiasis patients with Symmers' fibrosisInhibition of the signalling kinase JAK3 alleviates inflammation in monoarthritic rats.A self-inactivating lentiviral vector for SCID-X1 gene therapy that does not activate LMO2 expression in human T cells.Shared pathways to infectious disease susceptibility?IL-7 in human health and disease.A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.X-linked severe combined immunodeficiency disease and the gamma c receptor component: prospects for molecular diagnosis.Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1.T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex.IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.Revealing the molecular signatures of host-pathogen interactions.Interleukin-4-specific signal transduction events are driven by homotypic interactions of the interleukin-4 receptor alpha subunit.Requirement for an initial signal from the membrane-proximal region of the interleukin 2 receptor gamma(c) chain for Janus kinase activation leading to T cell proliferation.Integrin-regulated secretion of interleukin 4: A novel pathway of mechanotransduction in human articular chondrocytes.Absence of ZAP-70 prevents signaling through the antigen receptor on peripheral blood T cells but not on thymocytesIn vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction.Post-transplantation B cell function in different molecular types of SCIDRole of MED12 in transcription and human behavior.Acute monocytic leukemia in a dog with X-linked severe combined immunodeficiency.Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes.Shared gamma(c) subunit within the human interleukin-7 receptor complex. A molecular basis for the pathogenesis of X-linked severe combined immunodeficiency.Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.Sex differences in destructive periodontal disease: exploring the biologic basis.Influence of sex steroids on inflammation and bone metabolism.B cell biology: an overview.Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.The common γ-chain cytokine receptor: tricks-and-treats for T cells.
P2860
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P2860
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
1993年论文
@zh
1993年论文
@zh-cn
name
The interleukin-2 receptor gam ...... ined immunodeficiency, SCIDX1.
@ast
The interleukin-2 receptor gam ...... ined immunodeficiency, SCIDX1.
@en
type
label
The interleukin-2 receptor gam ...... ined immunodeficiency, SCIDX1.
@ast
The interleukin-2 receptor gam ...... ined immunodeficiency, SCIDX1.
@en
prefLabel
The interleukin-2 receptor gam ...... ined immunodeficiency, SCIDX1.
@ast
The interleukin-2 receptor gam ...... ined immunodeficiency, SCIDX1.
@en
P2093
P356
P1476
The interleukin-2 receptor gam ...... ined immunodeficiency, SCIDX1.
@en
P2093
Deschênes SM
Henthorn PS
Willard HF
P304
P356
10.1093/HMG/2.8.1099
P577
1993-08-01T00:00:00Z