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Article

The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development.

Human molecular genetics - 1 Sept 2012

Simpfendorfer Kim R, Olsson Lina M, Manjarrez Orduño Nataly, Khalili Houman, Simeone Alyssa M, Katz Matthew S, Lee Annette T, Diamond Betty, Gregersen Peter K

Abstract excerpt

The gene B lymphocyte kinase (BLK) is associated with rheumatoid arthritis, systemic lupus erythematosus and several other autoimmune disorders. The disease risk haplotype is known to be associated with reduced expression of BLK mRNA transcript in human B cell lines; however, little is known abou...

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Identifiers

PMID: 22678060
DOI: 10.1093/hmg/dds220
PMCID: PMC3412385

Genes

BLK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22678060-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development.PMID 22678060Read ↗

Autoimmune disease-associated haplotypes of BLK exhibit lowered thresholds for B cell activation and expansion of Ig class-switched B cells.Semantic proximity Read ↗

Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.Semantic proximity Read ↗

Concordance of increased B1 cell subset and lupus phenotypes in mice and humans is dependent on BLK expression levels.Semantic proximity Read ↗

Transcription of the blk Gene in Human B Lymphocytes Is Controlled by Two PromotersSemantic proximity Read ↗

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.Semantic proximity Read ↗

The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.Semantic proximity Read ↗

Reduced B lymphoid kinase (Blk) expression enhances proinflammatory cytokine production and induces nephrosis in C57BL/6-lpr/lpr mice.Semantic proximity Read ↗

Influence of BLK polymorphisms on the risk of rheumatoid arthritis.Semantic proximity Read ↗

Replication and meta-analysis of GWAS identified susceptibility loci in Kawasaki disease confirm the importance of B lymphoid tyrosine kinase (BLK) in disease susceptibility.Semantic proximity Read ↗

Expression of Bruton's tyrosine kinase protein within the B cell lineageSemantic proximity Read ↗

The association of the BLK gene with SLE was replicated in Chinese Han.Semantic proximity Read ↗

Dysfunctional BLK in common variable immunodeficiency perturbs B-cell proliferation and ability to elicit antigen-specific CD4+ T-cell help.Semantic proximity Read ↗

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