Sökning: onr:"swepub:oai:DiVA.org:liu-143080" > Rare X Chromosome A...
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000 | 11060naa a2200961 4500 | |
001 | oai:DiVA.org:liu-143080 | |
003 | SwePub | |
008 | 171122s2017 | |||||||||||000 ||eng| | |
009 | oai:DiVA.org:uu-340905 | |
009 | oai:prod.swepub.kib.ki.se:136963928 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1430802 URI |
024 | 7 | a https://doi.org/10.1002/art.402072 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3409052 URI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1369639282 URI |
040 | a (SwePub)liud (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Sharma, Rohanu University of Oklahoma, OK USA; Department Vet Affairs Medical Centre, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma Med Res Fdn, Oklahoma City, OK USA.;Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 aut |
245 | 1 0 | a Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjogrens Syndrome |
264 | c 2017-10-12 | |
264 | 1 | b WILEY,c 2017 |
338 | a print2 rdacarrier | |
500 | a Funding Agencies|NIH (National Institute of Arthritis and Musculoskeletal and Skin Diseases) [AR-053483, AR-053734]; NIH (National Institute of Allergy and Infectious Diseases) [AI-082714]; NIH (National Institute of General Medical Sciences) [GM-104938]; US Department of Veterans Affairs; Lupus Research Institute; UCB; Ionis; Ampel; Bristol-Myers Squibb; Pfizer; Regeneron; Sanofi/Genzyme; GlaxoSmithKline; Novartis; Abbott; Boston Pharmaceuticals | |
520 | a Objective. Sjogrens syndrome (SS) and systemic lupus erythematosus (SLE) are related by clinical and serologic manifestations as well as genetic risks. Both diseases are more commonly found in women than in men, at a ratio of similar to 10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease, suggesting a dose effect on the X chromosome. Methods. We examined cohorts of SS and SLE patients by constructing intensity plots of X chromosome single-nucleotide polymorphism alleles, along with determining the karyotype of selected patients. Results. Among similar to 2,500 women with SLE, we found 3 patients with a triple mosaic, consisting of 45,X/46,XX/47,XXX. Among similar to 2,100 women with SS, 1 patient had 45,X/46,XX/47,XXX, with a triplication of the distal p arm of the X chromosome in the 47,XXX cells. Neither the triple mosaic nor the partial triplication was found among the controls. In another SS cohort, we found a mother/daughter pair with partial triplication of this same region of the X chromosome. The triple mosaic occurs in similar to 1 in 25,000-50,000 live female births, while partial triplications are even rarer. Conclusion. Very rare X chromosome abnormalities are present among patients with either SS or SLE and may inform the location of a gene(s) that mediates an X dose effect, as well as critical cell types in which such an effect is operative. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng |
700 | 1 | a Harris, Valerie M.u Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA,Oklahoma Med Res Fdn, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Cavett, Joshuau Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA,Oklahoma Med Res Fdn, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Kurien, Biji T.u University of Oklahoma, OK USA; Department Vet Affairs Medical Centre, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma Med Res Fdn, Oklahoma City, OK USA.;Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Liu, Keu Cincinnati Childrens Hospital Medical Centre, OH 45229 USA; University of Cincinnati, OH USA,Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA.;Univ Cincinnati, Cincinnati, OH USA.4 aut |
700 | 1 | a Koelsch, Kristi A.u University of Oklahoma, OK USA; Department Vet Affairs Medical Centre, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma Med Res Fdn, Oklahoma City, OK USA.;Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Fayaaz, Anumu Department Vet Affairs Medical Centre, OK USA,Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Chaudhari, Kaustubh S.u Department Vet Affairs Medical Centre, OK USA,Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Radfar, Lidau University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Lewis, Davidu University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Stone, Donald U.u Johns Hopkins University, MD USA; King Khalid Eye Specialist Hospital, Saudi Arabia,Johns Hopkins Univ, Baltimore, MD USA.;King Khalid Eye Specialist Hosp, Riyadh, Saudi Arabia.4 aut |
700 | 1 | a Erick Kaufman, C.u University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Li, Shibou University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Segal, Barbarau University of Minnesota, MN 55455 USA,Univ Minnesota, Sch Med, Minneapolis, MN 55455 USA.4 aut |
700 | 1 | a Wallace, Daniel J.u Cedars Sinai Medical Centre, CA 90048 USA,Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA.4 aut |
700 | 1 | a Weisman, Michael H.u Cedars Sinai Medical Centre, CA 90048 USA4 aut |
700 | 1 | a Venuturupalli, Swamyu Cedars Sinai Medical Centre, CA 90048 USA,Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA.4 aut |
700 | 1 | a Kelly, Jennifer A.u Oklahoma Medical Research Fdn, OK 73104 USA,Oklahoma Med Res Fdn, 825 NE 13th St, Oklahoma City, OK 73104 USA.4 aut |
700 | 1 | a Pons-Estel, Bernardou Sanatorio Parque, Rosario, Argentina.4 aut |
700 | 1 | a Jonsson, Rolandu University of Bergen, Norway; Haukeland Hospital, Norway,Univ Bergen, Bergen, Norway.;Haukeland Hosp, Bergen, Norway.4 aut |
700 | 1 | a Lu, Xianglanu University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Gottenberg, Jacques-Ericu Strasbourg University, France,Strasbourg Univ, Strasbourg, France.4 aut |
700 | 1 | a Anaya, Juan-Manuelu University of Rosario, Colombia,Univ Rosario, Bogota, Colombia.4 aut |
700 | 1 | a Cunninghame-Graham, Deborah S.u Kings Coll London, London, England.4 aut |
700 | 1 | a Huang, Andrew J. W.u University of Minnesota, MN USA,Univ Minnesota, Minneapolis, MN USA.4 aut |
700 | 1 | a Brennan, Michael T.u Carolinas Medical Centre, NC 28203 USA,Carolinas Med Ctr, Charlotte, NC 28203 USA.4 aut |
700 | 1 | a Hughes, Pamelau University of Minnesota, MN USA,Univ Minnesota, Minneapolis, MN USA.4 aut |
700 | 1 | a Alevizos, Iliasu National Institute Dent and Craniofacial Research, MD USA,Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA.4 aut |
700 | 1 | a Miceli-Richard, Corinneu University of Paris Sud, France,Univ Paris Sud, AP HP, Dept Rheumatol, INSERM,U1012, Le Kremlin Bicetre, France.4 aut |
700 | 1 | a Keystone, Edward C.u Mt Sinai Hospital, Canada; University of Toronto, Canada,Mt Sinai Hosp, Toronto, ON, Canada.;Univ Toronto, Toronto, ON, Canada.4 aut |
700 | 1 | a Bykerk, Vivian P.u Hospital Special Surg, NY 10021 USA,Hosp Special Surg, 535 E 70th St, New York, NY 10021 USA.4 aut |
700 | 1 | a Hirschfield, Gideonu University of Birmingham, England,Univ Birmingham, Birmingham, W Midlands, England.4 aut |
700 | 1 | a Nordmark, Gunnelu Uppsala universitet,Reumatologi,Uppsala University, Sweden4 aut0 (Swepub:uu)gunnnord |
700 | 1 | a Magnusson Bucher, Sarau Örebro University Hospital, Sweden,Orebro Univ Hosp, Orebro, Sweden.4 aut |
700 | 1 | a Eriksson, Peru Linköpings universitet,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland,Linkoping Univ, Linkoping, Sweden.4 aut0 (Swepub:liu)perer22 |
700 | 1 | a Omdal, Roaldu Stavanger University Hospital, Norway,Stavanger Univ Hosp, Stavanger, Norway.4 aut |
700 | 1 | a Rhodus, Nelson L.u University of Minnesota, MN USA,Univ Minnesota, Minneapolis, MN USA.4 aut |
700 | 1 | a Rischmueller, Maureenu Queen Elizabeth Hospital, Australia; University of Adelaide, Australia,Queen Elizabeth Hosp, Woodville South, SA, Australia.;Univ Adelaide, Adelaide, SA, Australia.4 aut |
700 | 1 | a Rohrer, Michaelu University of Minnesota, MN USA,Univ Minnesota, Minneapolis, MN USA.4 aut |
700 | 1 | a Wahren-Herlenius, Marieu Karolinska Institutet4 aut |
700 | 1 | a Witte, Torstenu Hannover Medical Sch, Germany,Hannover Med Sch, Hannover, Germany.4 aut |
700 | 1 | a Alarcon-Riquelme, Martau Karolinska Institutet4 aut |
700 | 1 | a Mariette, Xavieru University of Paris Sud, France,Univ Paris Sud, AP HP, Dept Rheumatol, INSERM,U1012, Le Kremlin Bicetre, France.4 aut |
700 | 1 | a Lessard, Christopher J.u Oklahoma Medical Research Fdn, OK 73104 USA,Oklahoma Med Res Fdn, 825 NE 13th St, Oklahoma City, OK 73104 USA.4 aut |
700 | 1 | a Harley, John B.u University of Cincinnati, OH USA; Ohio Department Vet Affairs Medical Centre, OH USA,Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA.;Ohio Dept Vet Affairs Med Ctr, Cincinnati, OH USA.4 aut |
700 | 1 | a Ng, Wan-Faiu Newcastle University, England,Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England.4 aut |
700 | 1 | a Rasmussen, Astridu Oklahoma Medical Research Fdn, OK 73104 USA,Oklahoma Med Res Fdn, 825 NE 13th St, Oklahoma City, OK 73104 USA.4 aut |
700 | 1 | a Sivils, Kathy L.u Oklahoma Medical Research Fdn, OK 73104 USA; University of Oklahoma, OK USA,Oklahoma Med Res Fdn, 825 NE 13th St, Oklahoma City, OK 73104 USA.;Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut |
700 | 1 | a Hal Scofield, R.u University of Oklahoma, OK USA; Department Vet Affairs Medical Centre, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma Med Res Fdn, Oklahoma City, OK USA.;Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 aut |
710 | 2 | a University of Oklahoma, OK USA; Department Vet Affairs Medical Centre, OK USAb Univ Oklahoma, Hlth Sci Ctr, Oklahoma Med Res Fdn, Oklahoma City, OK USA.;Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 org |
773 | 0 | t Arthritis & Rheumatologyd : WILEYg 69:11, s. 2187-2192q 69:11<2187-2192x 2326-5191x 2326-5205 |
856 | 4 | u http://pure-oai.bham.ac.uk/ws/files/42145303/art40207.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-143080 |
856 | 4 8 | u https://doi.org/10.1002/art.40207 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-340905 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:136963928 |
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