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Common variants wit...
Common variants within MECP2 confer risk of systemic lupus erythematosus
- Article/chapterEnglish2008
Publisher, publication year, extent ...
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2008-03-05
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Public Library of Science (PLoS),2008
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-102295
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-102295URI
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https://doi.org/10.1371/journal.pone.0001727DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Systemic lupus erythematosus (SLE) is a predominantly female autoimmune disease that affects multiple organ systems. Herein, we report on an X-chromosome gene association with SLE. Methyl-CpG-binding protein 2 (MECP2) is located on chromosome Xq28 and encodes for a protein that plays a critical role in epigenetic transcriptional regulation of methylation-sensitive genes. Utilizing a candidate gene association approach, we genotyped 21 SNPs within and around MECP2 in SLE patients and controls. We identify and replicate association between SLE and the genomic element containing MECP2 in two independent SLE cohorts from two ethnically divergent populations. These findings are potentially related to the overexpression of methylation-sensitive genes in SLE.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Webb, Ryan
(author)
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Han, Shizhong
(author)
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Kelly, Jennifer A.
(author)
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Kaufman, Kenneth M.
(author)
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Kimberly, Robert P.
(author)
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Alarcón-Riquelme, Marta E.Uppsala universitet,Institutionen för genetik och patologi(Swepub:uu)martaala
(author)
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James, Judith A.
(author)
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Vyse, Timothy J.
(author)
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Gilkeson, Gary S.
(author)
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Choi, Chan-Bum
(author)
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Scofield, R. Hal
(author)
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Bae, Sang-Cheol
(author)
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Nath, Swapan K.
(author)
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Harley, John B.
(author)
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Uppsala universitetInstitutionen för genetik och patologi
(creator_code:org_t)
Related titles
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In:PLoS ONE: Public Library of Science (PLoS)3:3, s. e1727-1932-6203
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PLoS ONE
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- By the author/editor
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Sawalha, Amr H.
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Webb, Ryan
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Han, Shizhong
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Kelly, Jennifer ...
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Kaufman, Kenneth ...
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Kimberly, Robert ...
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show more...
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Alarcón-Riquelme ...
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James, Judith A.
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Vyse, Timothy J.
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Gilkeson, Gary S ...
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Choi, Chan-Bum
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Scofield, R. Hal
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Bae, Sang-Cheol
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Nath, Swapan K.
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Harley, John B.
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PLoS ONE
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Uppsala University