Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
about
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variantMycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiencyImmunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyInherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunityExome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaWhole-exome-sequencing-based discovery of human FADD deficiencyCongenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 moduleNewborn screening for SCID identifies patients with ataxia telangiectasiaNext-Generation Sequencing in the Understanding of Kaposi's Sarcoma-Associated Herpesvirus (KSHV) BiologySevere infectious diseases of childhood as monogenic inborn errors of immunitySOCE and cancer: Recent progress and new perspectivesIon channels and transporters in lymphocyte function and immunityMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityDisease gene identification strategies for exome sequencingPopulation genetic tools for dissecting innate immunity in humansDiscovery of single-gene inborn errors of immunity by next generation sequencingRapidly progressive Kaposi's Sarcoma in an Iraqi boy received Valproic acid: a case report and review of literature.Calcium Dyshomeostasis in Tubular Aggregate MyopathyDiseases caused by mutations in ORAI1 and STIM1Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1Exome sequencing identifies PDE4D mutations as another cause of acrodysostosisHuman TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeIL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and TurkeyHuman RHOH deficiency causes T cell defects and susceptibility to EV-HPV infectionsAutoimmunity in primary T-cell immunodeficiencies.Orai1 function is essential for T cell homing to lymph nodesDe novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.A dominant STIM1 mutation causes Stormorken syndrome.Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.The roles of Ca2+/NFAT signaling genes in Kawasaki disease: single- and multiple-risk genetic variants.Invasive pneumococcal disease in children can reveal a primary immunodeficiency.Statistical guidance for experimental design and data analysis of mutation detection in rare monogenic mendelian diseases by exome sequencing.Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.CD4⁺ and CD8⁺ T cell-dependent antiviral immunity requires STIM1 and STIM2.Ribosomal protein SA haploinsufficiency in humans with isolated congenital aspleniaStromal interaction molecule 1 (STIM1) and Orai1 mediate histamine-evoked calcium entry and nuclear factor of activated T-cells (NFAT) signaling in human umbilical vein endothelial cells.Inherited MST1 deficiency underlies susceptibility to EV-HPV infectionsInterleukin 1 receptor-associated kinase 1 (IRAK1) mutation is a common, essential driver for Kaposi sarcoma herpesvirus lymphoma.
P2860
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P2860
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@ast
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@en
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@nl
type
label
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@ast
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@en
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@nl
prefLabel
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@ast
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@en
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@nl
P2093
P2860
P50
P356
P1476
Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma
@en
P2093
Avinash Abhyankar
Connie Zhao
Leyla Telhan
Scott Dewell
Virginie Lelarge
P2860
P304
P356
10.1084/JEM.20101597
P407
P50
P577
2010-09-27T00:00:00Z