Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

Function-altering variants of immune-related genes cause rare autoimmune syndromes, whereas their contribution to common autoimmune diseases remains uncharacterized. Here the authors show that rare variants of lupus-associated genes are present in the majority of lupus patients and healthy controls,...

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Autores principales:	Simon H. Jiang, Vicki Athanasopoulos, Julia I. Ellyard, Aaron Chuah, Jean Cappello, Amelia Cook, Savit B. Prabhu, Jacob Cardenas, Jinghua Gu, Maurice Stanley, Jonathan A. Roco, Ilenia Papa, Mehmet Yabas, Giles D. Walters, Gaetan Burgio, Kathryn McKeon, James M. Byers, Charlotte Burrin, Anselm Enders, Lisa A. Miosge, Pablo F. Canete, Marija Jelusic, Velibor Tasic, Adrian C. Lungu, Stephen I. Alexander, Arthur R. Kitching, David A. Fulcher, Nan Shen, Todor Arsov, Paul A. Gatenby, Jeff J. Babon, Dominic F. Mallon, Carmen de Lucas Collantes, Eric A. Stone, Philip Wu, Matthew A. Field, Thomas D. Andrews, Eun Cho, Virginia Pascual, Matthew C. Cook, Carola G. Vinuesa
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/78a180011b6f49c096a0159adcd221f4
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spelling	oai:doaj.org-article:78a180011b6f49c096a0159adcd221f42021-12-02T16:57:31ZFunctional rare and low frequency variants in BLK and BANK1 contribute to human lupus10.1038/s41467-019-10242-92041-1723https://doaj.org/article/78a180011b6f49c096a0159adcd221f42019-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10242-9https://doaj.org/toc/2041-1723Function-altering variants of immune-related genes cause rare autoimmune syndromes, whereas their contribution to common autoimmune diseases remains uncharacterized. Here the authors show that rare variants of lupus-associated genes are present in the majority of lupus patients and healthy controls, but only the variants found in lupus patients alter gene function.Simon H. JiangVicki AthanasopoulosJulia I. EllyardAaron ChuahJean CappelloAmelia CookSavit B. PrabhuJacob CardenasJinghua GuMaurice StanleyJonathan A. RocoIlenia PapaMehmet YabasGiles D. WaltersGaetan BurgioKathryn McKeonJames M. ByersCharlotte BurrinAnselm EndersLisa A. MiosgePablo F. CaneteMarija JelusicVelibor TasicAdrian C. LunguStephen I. AlexanderArthur R. KitchingDavid A. FulcherNan ShenTodor ArsovPaul A. GatenbyJeff J. BabonDominic F. MallonCarmen de Lucas CollantesEric A. StonePhilip WuMatthew A. FieldThomas D. AndrewsEun ChoVirginia PascualMatthew C. CookCarola G. VinuesaNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Simon H. Jiang Vicki Athanasopoulos Julia I. Ellyard Aaron Chuah Jean Cappello Amelia Cook Savit B. Prabhu Jacob Cardenas Jinghua Gu Maurice Stanley Jonathan A. Roco Ilenia Papa Mehmet Yabas Giles D. Walters Gaetan Burgio Kathryn McKeon James M. Byers Charlotte Burrin Anselm Enders Lisa A. Miosge Pablo F. Canete Marija Jelusic Velibor Tasic Adrian C. Lungu Stephen I. Alexander Arthur R. Kitching David A. Fulcher Nan Shen Todor Arsov Paul A. Gatenby Jeff J. Babon Dominic F. Mallon Carmen de Lucas Collantes Eric A. Stone Philip Wu Matthew A. Field Thomas D. Andrews Eun Cho Virginia Pascual Matthew C. Cook Carola G. Vinuesa Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
description	Function-altering variants of immune-related genes cause rare autoimmune syndromes, whereas their contribution to common autoimmune diseases remains uncharacterized. Here the authors show that rare variants of lupus-associated genes are present in the majority of lupus patients and healthy controls, but only the variants found in lupus patients alter gene function.
format	article
author	Simon H. Jiang Vicki Athanasopoulos Julia I. Ellyard Aaron Chuah Jean Cappello Amelia Cook Savit B. Prabhu Jacob Cardenas Jinghua Gu Maurice Stanley Jonathan A. Roco Ilenia Papa Mehmet Yabas Giles D. Walters Gaetan Burgio Kathryn McKeon James M. Byers Charlotte Burrin Anselm Enders Lisa A. Miosge Pablo F. Canete Marija Jelusic Velibor Tasic Adrian C. Lungu Stephen I. Alexander Arthur R. Kitching David A. Fulcher Nan Shen Todor Arsov Paul A. Gatenby Jeff J. Babon Dominic F. Mallon Carmen de Lucas Collantes Eric A. Stone Philip Wu Matthew A. Field Thomas D. Andrews Eun Cho Virginia Pascual Matthew C. Cook Carola G. Vinuesa
author_facet	Simon H. Jiang Vicki Athanasopoulos Julia I. Ellyard Aaron Chuah Jean Cappello Amelia Cook Savit B. Prabhu Jacob Cardenas Jinghua Gu Maurice Stanley Jonathan A. Roco Ilenia Papa Mehmet Yabas Giles D. Walters Gaetan Burgio Kathryn McKeon James M. Byers Charlotte Burrin Anselm Enders Lisa A. Miosge Pablo F. Canete Marija Jelusic Velibor Tasic Adrian C. Lungu Stephen I. Alexander Arthur R. Kitching David A. Fulcher Nan Shen Todor Arsov Paul A. Gatenby Jeff J. Babon Dominic F. Mallon Carmen de Lucas Collantes Eric A. Stone Philip Wu Matthew A. Field Thomas D. Andrews Eun Cho Virginia Pascual Matthew C. Cook Carola G. Vinuesa
author_sort	Simon H. Jiang
title	Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
title_short	Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
title_full	Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
title_fullStr	Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
title_full_unstemmed	Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
title_sort	functional rare and low frequency variants in blk and bank1 contribute to human lupus
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/78a180011b6f49c096a0159adcd221f4
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Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus

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