Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
about
High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestryTYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traitsThe SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.Dependence of Glomerulonephritis Induction on Novel Intraglomerular Alternatively Activated Bone Marrow-Derived Macrophages and Mac-1 and PD-L1 in Lupus-Prone NZM2328 Mice.Genetics of systemic lupus erythematosus: immune responses and end organ resistance to damage.Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosusAdvances in lupus genetics and epigeneticsThe effect of inversion at 8p23 on BLK association with lupus in Caucasian populationIllumina human exome genotyping array clustering and quality controlConcordance of increased B1 cell subset and lupus phenotypes in mice and humans is dependent on BLK expression levels.An in silico Approach Reveals Associations between Genetic and Epigenetic Factors within Regulatory Elements in B Cells from Primary Sjögren's Syndrome Patients.Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay.Immunogenetics of systemic lupus erythematosus: A comprehensive review.Genetics of Lupus Nephritis: Clinical Implications.Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.Association of FAM167A-BLK rs2736340 Polymorphism with Susceptibility to Autoimmune Diseases: A Meta-Analysis.Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease.Genetics and pathogenesis of systemic lupus erythematosus and lupus nephritis.Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus.Genetics of Sjögren's syndrome.Autoimmune disease-associated haplotypes of BLK exhibit lowered thresholds for B cell activation and expansion of Ig class-switched B cells.Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease.Updates in Lupus Genetics.Genetic variants in systemic lupus erythematosus susceptibility loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a Korean cohort.
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P2860
Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on April 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Two functional lupus-associate ...... -stage-specific transcription.
@en
Two functional lupus-associate ...... -stage-specific transcription.
@nl
type
label
Two functional lupus-associate ...... -stage-specific transcription.
@en
Two functional lupus-associate ...... -stage-specific transcription.
@nl
prefLabel
Two functional lupus-associate ...... -stage-specific transcription.
@en
Two functional lupus-associate ...... -stage-specific transcription.
@nl
P2093
P2860
P50
P1476
Two functional lupus-associate ...... -stage-specific transcription.
@en
P2093
Adam J Adler
Anne M Stevens
Barry I Freedman
Beth L Cobb
Betty P Tsao
Carl D Langefeld
Carol F Webb
Chaim O Jacob
Christopher J Lessard
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P304
P356
10.1016/J.AJHG.2014.03.008
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P577
2014-04-01T00:00:00Z