Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma - sprookjes - yvandenbroek - TriplyDB

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

http://www.wikidata.org/entity/Q34243449

about

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia Whole-exome-sequencing-based discovery of human FADD deficiency Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module Newborn screening for SCID identifies patients with ataxia telangiectasia Next-Generation Sequencing in the Understanding of Kaposi's Sarcoma-Associated Herpesvirus (KSHV) Biology Severe infectious diseases of childhood as monogenic inborn errors of immunity SOCE and cancer: Recent progress and new perspectives Ion channels and transporters in lymphocyte function and immunity Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity Disease gene identification strategies for exome sequencing Population genetic tools for dissecting innate immunity in humans Discovery of single-gene inborn errors of immunity by next generation sequencing Rapidly progressive Kaposi's Sarcoma in an Iraqi boy received Valproic acid: a case report and review of literature.Calcium Dyshomeostasis in Tubular Aggregate Myopathy Diseases caused by mutations in ORAI1 and STIM1 Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections Autoimmunity in primary T-cell immunodeficiencies.Orai1 function is essential for T cell homing to lymph nodes De 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 asplenia Stromal 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 infections Interleukin 1 receptor-associated kinase 1 (IRAK1) mutation is a common, essential driver for Kaposi sarcoma herpesvirus lymphoma.

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Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

http://www.wikidata.org/entity/Q34243449

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

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2010年論文

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2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

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2010年论文

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name

Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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type

label

Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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prefLabel

Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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Journal of Experimental Medicine

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Whole-exome sequencing-based d ...... h fatal classic Kaposi sarcoma

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Avinash Abhyankar

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Connie Zhao

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Leyla Telhan

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Scott Dewell

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Virginie Lelarge

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P2860

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Exome sequencing identifies the cause of a mendelian disorder

Fast and accurate short read alignment with Burrows-Wheeler transform

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

The Sequence Alignment/Map format and SAMtools

Identification of herpesvirus-like DNA sequences in AIDS-associated Kaposi's sarcoma

Detection of herpesvirus-like DNA sequences in Kaposi's sarcoma in patients with and without HIV infection

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

Classic Kaposi's sarcoma associated with human herpesvirus 8 infection in a 13-year-old male: a case report.

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

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2307-2312

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scholarly article

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10.1084/JEM.20101597

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11

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207

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Jean-Laurent Casanova

Emmanuelle Jouanguy

Sabine Plancoulaine

Capucine Picard

Bertrand Boisson

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2010-09-27T00:00:00Z

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46578494

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20876309

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2964585

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