Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. - Wikidata - awgldk - TriplyDB

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

http://www.wikidata.org/entity/Q33944255

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Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop How I treat autoimmune lymphoproliferative syndrome Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome Decitabine and vorinostat cooperate to sensitize colon carcinoma cells to Fas ligand-induced apoptosis in vitro and tumor suppression in vivo NF-κB directly regulates Fas transcription to modulate Fas-mediated apoptosis and tumor suppression Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS).Elevated double negative T cells in pediatric autoimmunity Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation Gene defects in the soma: some get it and some don't!Clues to immune tolerance: the monogenic autoimmune syndromes Genomic alterations in abnormal neutrophils isolated from adult patients with systemic lupus erythematosus IL-10/Janus kinase/signal transducer and activator of transcription 3 signaling dysregulates Bim expression in autoimmune lymphoproliferative syndrome Altered differentiation, diminished pathogenicity, and regulatory activity of myelin-specific T cells expressing an enhanced affinity TCR.The expanding spectrum of the autoimmune lymphoproliferative syndromes Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial.A rapid ex vivo clinical diagnostic assay for fas receptor-induced T lymphocyte apoptosis.Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease.Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations CD95-mediated cell signaling in cancer: mutations and post-translational modulations.The importance of p53 pathway genetics in inherited and somatic cancer genomes.Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.Isolation of double negative αβ T cells from the kidney.

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Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

http://www.wikidata.org/entity/Q33944255

description

2010 nî lūn-bûn

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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2010 թվականի ապրիլին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Somatic FAS mutations are comm ...... lymphoproliferative syndrome.

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Somatic FAS mutations are comm ...... lymphoproliferative syndrome.

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Somatic FAS mutations are comm ...... lymphoproliferative syndrome.

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Somatic FAS mutations are comm ...... lymphoproliferative syndrome.

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Jennifer M Puck

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Joie Davis

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João Bosco Oliveira

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Kennichi C Dowdell

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Ronald L Hornung

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Stefania Pittaluga

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Thomas A Fleisher

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V Koneti Rao

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P2860

Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome

Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS)

Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

SIFT: Predicting amino acid changes that affect protein function

Human non-synonymous SNPs: server and survey

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