SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Venuturupalli S.)
 

Sökning: WFRF:(Venuturupalli S.) > (2017) > Rare X Chromosome A...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00011060naa a2200961 4500
001oai:DiVA.org:liu-143080
003SwePub
008171122s2017 | |||||||||||000 ||eng|
009oai:DiVA.org:uu-340905
009oai:prod.swepub.kib.ki.se:136963928
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1430802 URI
0247 a https://doi.org/10.1002/art.402072 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3409052 URI
0247 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 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 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
2451 0a Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjogrens Syndrome
264 c 2017-10-12
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng
7001 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
7001 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
7001 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
7001 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
7001 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
7001 a Fayaaz, Anumu Department Vet Affairs Medical Centre, OK USA,Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 aut
7001 a Chaudhari, Kaustubh S.u Department Vet Affairs Medical Centre, OK USA,Dept Vet Affairs Med Ctr, Oklahoma City, OK USA.4 aut
7001 a Radfar, Lidau University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut
7001 a Lewis, Davidu University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut
7001 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
7001 a Erick Kaufman, C.u University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut
7001 a Li, Shibou University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut
7001 a Segal, Barbarau University of Minnesota, MN 55455 USA,Univ Minnesota, Sch Med, Minneapolis, MN 55455 USA.4 aut
7001 a Wallace, Daniel J.u Cedars Sinai Medical Centre, CA 90048 USA,Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA.4 aut
7001 a Weisman, Michael H.u Cedars Sinai Medical Centre, CA 90048 USA4 aut
7001 a Venuturupalli, Swamyu Cedars Sinai Medical Centre, CA 90048 USA,Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA.4 aut
7001 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
7001 a Pons-Estel, Bernardou Sanatorio Parque, Rosario, Argentina.4 aut
7001 a Jonsson, Rolandu University of Bergen, Norway; Haukeland Hospital, Norway,Univ Bergen, Bergen, Norway.;Haukeland Hosp, Bergen, Norway.4 aut
7001 a Lu, Xianglanu University of Oklahoma, OK USA,Univ Oklahoma, Hlth Sci Ctr, Oklahoma City, OK USA.4 aut
7001 a Gottenberg, Jacques-Ericu Strasbourg University, France,Strasbourg Univ, Strasbourg, France.4 aut
7001 a Anaya, Juan-Manuelu University of Rosario, Colombia,Univ Rosario, Bogota, Colombia.4 aut
7001 a Cunninghame-Graham, Deborah S.u Kings Coll London, London, England.4 aut
7001 a Huang, Andrew J. W.u University of Minnesota, MN USA,Univ Minnesota, Minneapolis, MN USA.4 aut
7001 a Brennan, Michael T.u Carolinas Medical Centre, NC 28203 USA,Carolinas Med Ctr, Charlotte, NC 28203 USA.4 aut
7001 a Hughes, Pamelau University of Minnesota, MN USA,Univ Minnesota, Minneapolis, MN USA.4 aut
7001 a Alevizos, Iliasu National Institute Dent and Craniofacial Research, MD USA,Natl Inst Dent & Craniofacial Res, NIH, Bethesda, MD USA.4 aut
7001 a Miceli-Richard, Corinneu University of Paris Sud, France,Univ Paris Sud, AP HP, Dept Rheumatol, INSERM,U1012, Le Kremlin Bicetre, France.4 aut
7001 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
7001 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
7001 a Hirschfield, Gideonu University of Birmingham, England,Univ Birmingham, Birmingham, W Midlands, England.4 aut
7001 a Nordmark, Gunnelu Uppsala universitet,Reumatologi,Uppsala University, Sweden4 aut0 (Swepub:uu)gunnnord
7001 a Magnusson Bucher, Sarau Örebro University Hospital, Sweden,Orebro Univ Hosp, Orebro, Sweden.4 aut
7001 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
7001 a Omdal, Roaldu Stavanger University Hospital, Norway,Stavanger Univ Hosp, Stavanger, Norway.4 aut
7001 a Rhodus, Nelson L.u University of Minnesota, MN USA,Univ Minnesota, Minneapolis, MN USA.4 aut
7001 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
7001 a Rohrer, Michaelu University of Minnesota, MN USA,Univ Minnesota, Minneapolis, MN USA.4 aut
7001 a Wahren-Herlenius, Marieu Karolinska Institutet4 aut
7001 a Witte, Torstenu Hannover Medical Sch, Germany,Hannover Med Sch, Hannover, Germany.4 aut
7001 a Alarcon-Riquelme, Martau Karolinska Institutet4 aut
7001 a Mariette, Xavieru University of Paris Sud, France,Univ Paris Sud, AP HP, Dept Rheumatol, INSERM,U1012, Le Kremlin Bicetre, France.4 aut
7001 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
7001 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
7001 a Ng, Wan-Faiu Newcastle University, England,Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England.4 aut
7001 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
7001 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
7001 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
7102 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
7730 t Arthritis & Rheumatologyd : WILEYg 69:11, s. 2187-2192q 69:11<2187-2192x 2326-5191x 2326-5205
8564 u http://pure-oai.bham.ac.uk/ws/files/42145303/art40207.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-143080
8564 8u https://doi.org/10.1002/art.40207
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-340905
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:136963928

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy