Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.

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http://www.wikidata.org/entity/Q42099090
Clinical perspectives on lupus genetics: advances and opportunitiesThe plasmacytoid dendritic cell as the Swiss army knife of the immune system: molecular regulation of its multifaceted functionsNatural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing DataThe SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.Solving the genetic puzzle of systemic lupus erythematosus.The effect of inversion at 8p23 on BLK association with lupus in Caucasian populationReduced B lymphoid kinase (Blk) expression enhances proinflammatory cytokine production and induces nephrosis in C57BL/6-lpr/lpr mice.Concordance of increased B1 cell subset and lupus phenotypes in mice and humans is dependent on BLK expression levels.Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.Rare variants and autoimmune disease.Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus.Genomewide association study on chronic periodontitis in Korean population: results from the Yangpyeong health cohort.Autoimmune disease-associated haplotypes of BLK exhibit lowered thresholds for B cell activation and expansion of Ig class-switched B cells.Incompatibility of chemical protein synthesis inhibitors with accurate measurement of extended protein degradation rates.Genetic association study of systemic lupus erythematosus and disease subphenotypes in European populations.BLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flares.
P2860

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.

Item
http://www.wikidata.org/entity/Q42099090
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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2012年论文
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2012年论文
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name
Fine mapping and conditional a ...... half-life of the BLK protein.
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Fine mapping and conditional a ...... half-life of the BLK protein.
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Fine mapping and conditional a ...... half-life of the BLK protein.
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Fine mapping and conditional a ...... half-life of the BLK protein.
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Fine mapping and conditional a ...... half-life of the BLK protein.
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Fine mapping and conditional a ...... half-life of the BLK protein.
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Fine mapping and conditional a ...... half-life of the BLK protein.
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10.1136/ANNRHEUMDIS-2011-200987
P407
P433
P478
P50
P577
P5875
P698
P932