scholarly article | Q13442814 |
P50 | author | Jean-Laurent Casanova | Q17322542 |
Eamonn R Maher | Q56435841 | ||
Minji Byun | Q58886111 | ||
Avinash Abhyankar | Q87628939 | ||
Sophie Hambleton | Q87744473 | ||
Anne Puel | Q30503754 | ||
Laurent Abel | Q30503755 | ||
Neil V Morgan | Q37383369 | ||
Frédéric Rieux-Laucat | Q37645087 | ||
P2093 | author name string | Stefan J Riedl | |
David McDonald | |||
Lakshmanane Premkumar | |||
Andrew Cant | |||
Alexandre Bolze | |||
Chris M Bacon | |||
Ki Pang | |||
Alison Britland | |||
P2860 | cites work | Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II | Q22010404 |
FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis | Q24307362 | ||
The Fas-FADD death domain complex structure unravels signalling by receptor clustering | Q24312945 | ||
Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
Targeted capture and massively parallel sequencing of 12 human exomes | Q24615381 | ||
Functional hyposplenism | Q68176897 | ||
Familial asplenia, other malformations, and sudden death | Q71148368 | ||
Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome | Q74595817 | ||
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency | Q28204372 | ||
Detection, education and management of the asplenic or hyposplenic patient | Q28207050 | ||
FADD: essential for embryo development and signaling from some, but not all, inducers of apoptosis | Q28265012 | ||
FADD: a regulator of life and death | Q28286149 | ||
Fas-associated death domain-containing protein-mediated antiviral innate immune signaling involves the regulation of Irf7 | Q28286830 | ||
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 function | Q28307801 | ||
Apoptosis: controlled demolition at the cellular level | Q29620114 | ||
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity | Q33488225 | ||
T cell intrinsic roles of autophagy in promoting adaptive immunity | Q33936116 | ||
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 necroptosis | Q34059345 | ||
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases | Q34138388 | ||
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma | Q34243449 | ||
Primary immunodeficiencies: a field in its infancy | Q34659118 | ||
A partial form of recessive STAT1 deficiency in humans | Q34980624 | ||
The CD95(APO-1/Fas) DISC and beyond | Q35091401 | ||
Primary immunodeficiencies associated with pneumococcal disease | Q35581712 | ||
A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome. | Q36454970 | ||
Genetic defects of apoptosis and primary immunodeficiency | Q37142878 | ||
Death receptor signal transducers: nodes of coordination in immune signaling networks | Q37417486 | ||
A FADD-dependent innate immune mechanism in mammalian cells | Q38334155 | ||
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 vivo | Q40296138 | ||
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome | Q55670225 | ||
P433 | issue | 6 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Fas associated via death domain | Q994646 |
positive regulation of type I interferon-mediated signaling pathway | Q14907135 | ||
FADD-related immunodeficiency | Q55784034 | ||
P304 | page(s) | 873-81 | |
P577 | publication date | 2010-12-10 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Whole-exome-sequencing-based discovery of human FADD deficiency | |
P478 | volume | 87 |
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