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WFRF:(Callejas Jose Luis)
 

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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004516naa a2200637 4500
001oai:DiVA.org:uu-167163
003SwePub
008120123s2012 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:123742896
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1671632 URI
0247 a https://doi.org/10.1136/annrheumdis-2011-2000852 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1237428962 URI
040 a (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Castillejo-Lopez, Casimiro4 aut
2451 0a Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK
264 c 2011-10-06
264 1b BMJ,c 2012
338 a print2 rdacarrier
520 a ObjectivesAltered signalling in B cells is a predominant feature of systemic lupus erythematosus (SLE). The genes BANK1 and BLK were recently described as associated with SLE. BANK1 codes for a B-cell-specific cytoplasmic protein involved in B-cell receptor signalling and BLK codes for an Src tyrosine kinase with important roles in B-cell development. To characterise the role of BANK1 and BLK in SLE, a genetic interaction analysis was performed hypothesising that genetic interactions could reveal functional pathways relevant to disease pathogenesis.MethodsThe GPAT16 method was used to analyse the gene-gene interactions of BANK1 and BLK. Confocal microscopy was used to investigate co-localisation, and immunoprecipitation was used to verify the physical interaction of BANK1 and BLK.ResultsEpistatic interactions between BANK1 and BLK polymorphisms associated with SLE were observed in a discovery set of 279 patients and 515 controls from northern Europe. A meta-analysis with 4399 European individuals confirmed the genetic interactions between BANK1 and BLK. As BANK1 was identified as a binding partner of the Src tyrosine kinase LYN, the possibility that BANK1 and BLK could also show a protein-protein interaction was tested. The co-immunoprecipitation and co-localisation of BLK and BANK1 were demonstrated. In a Daudi cell line and primary naive B cells endogenous binding was enhanced upon B-cell receptor stimulation using anti-IgM antibodies.ConclusionsThis study shows a genetic interaction between BANK1 and BLK, and demonstrates that these molecules interact physically. The results have important consequences for the understanding of SLE and other autoimmune diseases and identify a potential new signalling pathway.
7001 a Delgado-Vega, Angélica M.u Uppsala universitet,Genomik4 aut0 (Swepub:uu)angde679
7001 a Wojcik, Jerome4 aut
7001 a Kozyrev, Sergey V.u Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi4 aut0 (Swepub:uu)sekoz957
7001 a Thavathiru, Elangovan4 aut
7001 a Wu, Ying-Yu4 aut
7001 a Sanchez, Elena4 aut
7001 a Pöllmann, Davidu Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut
7001 a Lopez-Egido, Juan R.u Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)juanramo
7001 a Fineschi, Serenau Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut
7001 a Dominguez, Nicolas4 aut
7001 a Lu, Rufei4 aut
7001 a James, Judith A.4 aut
7001 a Merrill, Joan T.4 aut
7001 a Kelly, Jennifer A.4 aut
7001 a Kaufman, Kenneth M.4 aut
7001 a Moser, Kathy L.4 aut
7001 a Gilkeson, Gary4 aut
7001 a Frostegård, Johanu Karolinska Institutet4 aut
7001 a Pons-Estel, Bernardo A.4 aut
7001 a D'Alfonso, Sandra4 aut
7001 a Witte, Torsten4 aut
7001 a Luis Callejas, Jose4 aut
7001 a Harley, John B.4 aut
7001 a Gaffney, Patrick M.4 aut
7001 a Martin, Javier4 aut
7001 a Guthridge, Joel M.4 aut
7001 a Alarcon-Riquelme, Marta E.4 aut
7102 a Uppsala universitetb Genomik4 org
7730 t Annals of the Rheumatic Diseasesd : BMJg 71:1, s. 136-142q 71:1<136-142x 0003-4967x 1468-2060
8564 u https://europepmc.org/articles/pmc3268679?pdf=render
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-167163
8564 8u https://doi.org/10.1136/annrheumdis-2011-200085
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:123742896

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