A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
about
PLAID: a Syndrome of Complex Patterns of Disease and Unique PhenotypesPrimary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestationsTargeted therapies in CLL: mechanisms of resistance and strategies for managementDiscovery of single-gene inborn errors of immunity by next generation sequencingThe diagnostic approach to monogenic very early onset inflammatory bowel diseaseRac-mediated Stimulation of Phospholipase Cγ2 Amplifies B Cell Receptor-induced Calcium Signaling.Structural and Functional Integration of the PLCγ Interaction Domains Critical for Regulatory Mechanisms and Signaling DeregulationAutoinhibition and Phosphorylation-Induced Activation of Phospholipase C-γ IsozymesProtein Kinase C δ: a Gatekeeper of Immune HomeostasisResistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinibGenetics of inflammatory bowel disease from multifactorial to monogenic formsThe autoinhibitory C-terminal SH2 domain of phospholipase C-γ2 stabilizes B cell receptor signalosome assembly.Using high-sensitivity sequencing for the detection of mutations in BTK and PLCγ2 genes in cellular and cell-free DNA and correlation with progression in patients treated with BTK inhibitorsThe expanding spectrum of rare monogenic autoinflammatory diseases.Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID)Recurrent PTPRB and PLCG1 mutations in angiosarcoma.Genetic network identifies novel pathways contributing to atherosclerosis susceptibility in the innominate arteryGenetics, genomics, and their relevance to pathology and therapy.Ibrutinib treatment of CLL: the cancer fights back.Sequencing depth and coverage: key considerations in genomic analyses.When less is more: primary immunodeficiency with an autoinflammatory kickImmunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kindConnecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation.Immunohistochemical analysis of the natural killer cell cytotoxicity pathway in human abdominal aortic aneurysms.Inhibition of CXCL12-mediated chemotaxis of Jurkat cells by direct immunotoxicants.HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic SyndromeHypermorphic mutation of phospholipase C, γ2 acquired in ibrutinib-resistant CLL confers BTK independency upon B-cell receptor activationA comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density.Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Utility of next generation sequencing in clinical primary immunodeficiencies.Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.Opportunities and challenges of whole-genome and -exome sequencing.Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory DiseasesPrimary Immunodeficiencies and Inflammatory Disease: A Growing Genetic Intersection.B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibition.Monogenic autoinflammatory diseases: concept and clinical manifestations.Localization of a major susceptibility locus influencing preterm birthMonogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation.Systems approaches to human autoimmune diseases.
P2860
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P2860
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
A hypermorphic missense mutati ...... disease with immunodeficiency.
@ast
A hypermorphic missense mutati ...... disease with immunodeficiency.
@en
type
label
A hypermorphic missense mutati ...... disease with immunodeficiency.
@ast
A hypermorphic missense mutati ...... disease with immunodeficiency.
@en
prefLabel
A hypermorphic missense mutati ...... disease with immunodeficiency.
@ast
A hypermorphic missense mutati ...... disease with immunodeficiency.
@en
P2093
P2860
P50
P1476
A hypermorphic missense mutati ...... disease with immunodeficiency.
@en
P2093
Afzal Sheikh
Amanda Ombrello
Daniel L Kastner
Deborah Stone
Debra A Long Priel
Douglas B Kuhns
Geun-Shik Lee
Ivona Aksentijevich
Javed Khan
Jillian Brady
P2860
P304
P356
10.1016/J.AJHG.2012.08.006
P407
P577
2012-09-20T00:00:00Z