Whole-exome-sequencing-based discovery of human FADD deficiency

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Whole-exome-sequencing-based discovery of human FADD deficiency is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.AJHG.2010.10.028
P8608Fatcat IDrelease_mcjtzgelorbkbk7za4tfmqvk2q
P3181OpenCitations bibliographic resource ID3000586
P932PMC publication ID2997374
P698PubMed publication ID21109225
P5875ResearchGate publication ID49637283

P50authorJean-Laurent CasanovaQ17322542
Eamonn R MaherQ56435841
Minji ByunQ58886111
Avinash AbhyankarQ87628939
Sophie HambletonQ87744473
Anne PuelQ30503754
Laurent AbelQ30503755
Neil V MorganQ37383369
Frédéric Rieux-LaucatQ37645087
P2093author name stringStefan J Riedl
David McDonald
Lakshmanane Premkumar
Andrew Cant
Alexandre Bolze
Chris M Bacon
Ki Pang
Alison Britland
P2860cites workInherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type IIQ22010404
FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosisQ24307362
The Fas-FADD death domain complex structure unravels signalling by receptor clusteringQ24312945
Exome sequencing identifies the cause of a mendelian disorderQ24607742
Targeted capture and massively parallel sequencing of 12 human exomesQ24615381
Functional hyposplenismQ68176897
Familial asplenia, other malformations, and sudden deathQ71148368
Immunophenotypic profiles in families with autoimmune lymphoproliferative syndromeQ74595817
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
The Sequence Alignment/Map format and SAMtoolsQ27860966
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiencyQ28204372
Detection, education and management of the asplenic or hyposplenic patientQ28207050
FADD: essential for embryo development and signaling from some, but not all, inducers of apoptosisQ28265012
FADD: a regulator of life and deathQ28286149
Fas-associated death domain-containing protein-mediated antiviral innate immune signaling involves the regulation of Irf7Q28286830
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of functionQ28307801
Apoptosis: controlled demolition at the cellular levelQ29620114
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunityQ33488225
T cell intrinsic roles of autophagy in promoting adaptive immunityQ33936116
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.Q33960515
Fas-associated death domain (FADD) is a negative regulator of T-cell receptor-mediated necroptosisQ34059345
Isolated congenital asplenia: a French nationwide retrospective survey of 20 casesQ34138388
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcomaQ34243449
Primary immunodeficiencies: a field in its infancyQ34659118
A partial form of recessive STAT1 deficiency in humansQ34980624
The CD95(APO-1/Fas) DISC and beyondQ35091401
Primary immunodeficiencies associated with pneumococcal diseaseQ35581712
A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.Q36454970
Genetic defects of apoptosis and primary immunodeficiencyQ37142878
Death receptor signal transducers: nodes of coordination in immune signaling networksQ37417486
A FADD-dependent innate immune mechanism in mammalian cellsQ38334155
Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivoQ40296138
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndromeQ55670225
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectFas associated via death domainQ994646
positive regulation of type I interferon-mediated signaling pathwayQ14907135
FADD-related immunodeficiencyQ55784034
P304page(s)873-81
P577publication date2010-12-10
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleWhole-exome-sequencing-based discovery of human FADD deficiency
P478volume87

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