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Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
Nature Communications, 10 (2019), 1; https://doi.org/10.1038/s41467-019-10242-9
Jiang, Simon H.; Athanasopoulos, Vicki; Ellyard, Julia I.; Chuah, Aaron; Cappello, Jean; Cook, Amelia; Prabhu, Savit B.; Cardenas, Jacob; Gu, Jinghua; Stanley, Maurice; Roco, Jonathan A.; Papa, Ilenia; Yabas, Mehmet; Walters, Giles D.; Burgio, Gaetan; McKeon, Kathryn; Byers, James M.; Burrin, Charlotte; Enders, Anselm; Miosge, Lisa A.; Canete, Pablo F.; Jelušić, Marija; Tasic, Velibor; Lungu, Adrian C.; Alexander, Stephen I.; Kitching, Arthur R.; Fulcher, David A.; Shen, Nan; Arsov, Todor; Gatenby, Paul A.; Babon, Jeff J.; Mallon, Dominic F.; de Lucas Collantes, Carmen; Stone, Eric A.; Wu, Philip; Field, Matthew A.; Andrews, Thomas D.; Cho, Eun; Pascual, Virginia; Cook, Matthew C.; Vinuesa, Carola G. Više autora...

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Jiang, S. H., Athanasopoulos, V., Ellyard, J. I., Chuah, A., Cappello, J., Cook, A. ... Vinuesa, C. G. (2019). Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. Nature Communications, 10. (1). doi: 10.1038/s41467-019-10242-9

Jiang, Simon H., et al. "Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus." Nature Communications, vol. 10, br. 1, 2019. https://doi.org/10.1038/s41467-019-10242-9

Jiang, Simon H., Vicki Athanasopoulos, Julia I. Ellyard, Aaron Chuah, Jean Cappello, Amelia Cook, Savit B. Prabhu, et al. "Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus." Nature Communications 10, br. 1 (2019). https://doi.org/10.1038/s41467-019-10242-9

Jiang, S. H., et al. (2019) 'Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus', Nature Communications, 10(1). doi: 10.1038/s41467-019-10242-9

Jiang SH, Athanasopoulos V, Ellyard JI, Chuah A, Cappello J, Cook A, i sur.. Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. Nature Communications [Internet]. 17.05.2019. [pristupljeno 20.02.2025.];10(1). doi: 10.1038/s41467-019-10242-9

S. H. Jiang, et al., "Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus", Nature Communications, vol. 10, br. 1, Svibanj 2019. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:742418. [Citirano: 20.02.2025.]

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Naslov (engleski)Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
AutorSimon H. Jiang
AutorVicki Athanasopoulos
AutorJulia I. Ellyard
AutorAaron Chuah
AutorJean Cappello
AutorAmelia Cook
AutorSavit B. Prabhu
AutorJacob Cardenas
AutorJinghua Gu
AutorMaurice Stanley
AutorJonathan A. Roco
AutorIlenia Papa
AutorMehmet Yabas
AutorGiles D. Walters
AutorGaetan Burgio
AutorKathryn McKeon
AutorJames M. Byers
AutorCharlotte Burrin
AutorAnselm Enders
AutorLisa A. Miosge
AutorPablo F. Canete
AutorMarija Jelušić
AutorVelibor Tasic
AutorAdrian C. Lungu
AutorStephen I. Alexander
AutorArthur R. Kitching
AutorDavid A. Fulcher
AutorNan Shen
AutorTodor Arsov
AutorPaul A. Gatenby
AutorJeff J. Babon
AutorDominic F. Mallon
AutorCarmen de Lucas Collantes
AutorEric A. Stone
AutorPhilip Wu
AutorMatthew A. Field
AutorThomas D. Andrews
AutorEun Cho
AutorVirginia Pascual
AutorMatthew C. Cook
AutorCarola G. Vinuesa
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. It is thought that many common variant gene loci of weak effect act additively to predispose to common autoimmune diseases, while the contribution of rare variants remains unclear. Here we describe that rare coding variants in lupus-risk genes are present in most SLE patients and healthy controls. We demonstrate the functional consequences of rare and low frequency missense variants in the interacting proteins BLK and BANK1, which are present alone, or in combination, in a substantial proportion of lupus patients. The rare variants found in patients, but not those found exclusively in controls, impair suppression of IRF5 and type-I IFN in human B cell lines and increase pathogenic lymphocytes in lupus-prone mice. Thus, rare gene variants are common in SLE and likely contribute to genetic risk.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaNature Communications
Brojčani podacivol. 10, br. 1
p-ISSN2041-1723
DOIhttps://doi.org/10.1038/s41467-019-10242-9
URN:NBNurn:nbn:hr:105:742418
Datum objave publikacije2019-05-17
URL dokumentahttp://doi.org/10.1038/s41467-019-10242-9
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
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Datum i vrijeme pohrane2024-03-28 10:35:04