{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:05:03Z","timestamp":1791270303149,"version":"4.1.0"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2009,5,21]],"date-time":"2009-05-21T00:00:00Z","timestamp":1242864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2009,5,21]],"date-time":"2009-05-21T00:00:00Z","timestamp":1242864000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1038\/gene.2009.37","type":"journal-article","created":{"date-parts":[[2009,5,21]],"date-time":"2009-05-21T09:06:34Z","timestamp":1242896794000},"page":"478-481","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":70,"title":["46,X,del(X)(q13) Turner's syndrome women with systemic lupus erythematosus in a pedigree multiplex for SLE"],"prefix":"10.1038","volume":"10","author":[{"given":"C M","family":"Cooney","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G R","family":"Bruner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Aberle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Namjou-Khales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L K","family":"Myers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Feo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"D'Souza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Ramirez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J B","family":"Harley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R H","family":"Scofield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,5,21]]},"reference":[{"key":"BFgene200937_CR1","volume-title":"Dubois\u2019 Lupus Erythematosus","author":"DJ Wallace","year":"2007","unstructured":"Wallace DJ, Hahn BH . Dubois\u2019 Lupus Erythematosus, 7th edn, Lippincott Williams & Wilkins: Philadelphia, 2007."},{"key":"BFgene200937_CR2","doi-asserted-by":"publisher","first-page":"1027","DOI":"10.1001\/archinte.1974.00320240061006","volume":"134","author":"WJ Fessel","year":"1974","unstructured":"Fessel WJ . Systemic lupus erythematosus in the community. Incidence, prevalence, outcome, and first symptoms; the high prevalence in black women. Arch Intern Med 1974; 134: 1027\u20131035.","journal-title":"Arch Intern Med"},{"key":"BFgene200937_CR3","doi-asserted-by":"publisher","first-page":"1260","DOI":"10.1002\/art.1780380914","volume":"38","author":"DJ McCarty","year":"1995","unstructured":"McCarty DJ, Manzi S, Medsger Jr TA, Ramsey-Goldman R, LaPorte RE, Kwoh CK . Incidence of systemic lupus erythematosus. Race and gender differences. Arthritis Rheum 1995; 38: 1260\u20131270.","journal-title":"Arthritis Rheum"},{"key":"BFgene200937_CR4","doi-asserted-by":"publisher","first-page":"2511","DOI":"10.1002\/art.23701","volume":"58","author":"RH Scofield","year":"2008","unstructured":"Scofield RH, Bruner GR, Namjou B, Kimberly RP, Ramsey-Goldman R, Petri M et al. Klinefelter's syndrome, 47,XXY, in male systemic lupus erythematosus supports a gene dose effect from the X chromosome. Arthritis Rheum 2008; 58: 2511\u20132517.","journal-title":"Arthritis Rheum"},{"key":"BFgene200937_CR5","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1210\/endo-23-5-566","volume":"23","author":"HH Turner","year":"1938","unstructured":"Turner HH . A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 1938; 23: 566.","journal-title":"Endocrinology"},{"key":"BFgene200937_CR6","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/S0140-6736(59)91893-8","volume":"1","author":"CE Ford","year":"1959","unstructured":"Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH . A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet 1959; 1: 711\u2013713.","journal-title":"Lancet"},{"key":"BFgene200937_CR7","doi-asserted-by":"publisher","first-page":"861","DOI":"10.2169\/naika.69.861","volume":"69","author":"T Takegami","year":"1980","unstructured":"Takegami T, Nakao K, Nagayama Y, Fujita T, Hoshino T, Tsunematsu T et al. [A case of SLE associated with Turner's syndrome of 45, XO\/46, XXq+ mosaicism (author's transl)]. Nippon Naika Gakkai Zasshi 1980; 69: 861\u2013866.","journal-title":"Nippon Naika Gakkai Zasshi"},{"key":"BFgene200937_CR8","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1097\/00000421-199802000-00012","volume":"21","author":"SM Rakfal","year":"1998","unstructured":"Rakfal SM, Deutsch M . Radiotherapy for malignancies associated with lupus: case reports of acute and late reactions. Am J Clin Oncol 1998; 21: 54\u201357.","journal-title":"Am J Clin Oncol"},{"key":"BFgene200937_CR9","doi-asserted-by":"publisher","first-page":"1271","DOI":"10.1002\/art.1780251101","volume":"25","author":"EM Tan","year":"1982","unstructured":"Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271\u20131277.","journal-title":"Arthritis Rheum"},{"key":"BFgene200937_CR10","doi-asserted-by":"publisher","first-page":"1725","DOI":"10.1002\/art.1780400928","volume":"40","author":"MC Hochberg","year":"1997","unstructured":"Hochberg MC . Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997; 40: 1725.","journal-title":"Arthritis Rheum"},{"key":"BFgene200937_CR11","first-page":"1229","volume":"51","author":"RC Allen","year":"1992","unstructured":"Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW . Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229\u20131239.","journal-title":"Am J Hum Genet"},{"key":"BFgene200937_CR12","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1056\/NEJMra022784","volume":"350","author":"DT MacLaughlin","year":"2004","unstructured":"MacLaughlin DT, Donahoe PK . Sex determination and differentiation. N Engl J Med 2004; 350: 367\u2013378.","journal-title":"N Engl J Med"},{"key":"BFgene200937_CR13","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1196\/annals.1423.010","volume":"1110","author":"P Invernizzi","year":"2007","unstructured":"Invernizzi P, Miozzo M, Oertelt-Prigione S, Meroni PL, Persani L, Selmi C et al. X monosomy in female systemic lupus erythematosus. Ann NY Acad Sci 2007; 1110: 84\u201391.","journal-title":"Ann NY Acad Sci"},{"key":"BFgene200937_CR14","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1080\/08916930802024574","volume":"41","author":"P Invernizzi","year":"2008","unstructured":"Invernizzi P, Pasini S, Selmi C, Miozzo M, Podda M . Skewing of X chromosome inactivation in autoimmunity. Autoimmunity 2008; 41: 272\u2013277.","journal-title":"Autoimmunity"},{"key":"BFgene200937_CR15","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1186\/ar118","volume":"2","author":"S Chitnis","year":"2000","unstructured":"Chitnis S, Monteiro J, Glass D, Apatoff B, Salmon J, Concannon P et al. The role of X-chromosome inactivation in female predisposition to autoimmunity. Arthritis Res 2000; 2: 399\u2013406.","journal-title":"Arthritis Res"},{"key":"BFgene200937_CR16","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1097\/01.bor.0000245718.56770.a4","volume":"18","author":"C Selmi","year":"2006","unstructured":"Selmi C, Invernizzi P, Gershwin ME . The X chromosome and systemic sclerosis. Curr Op Rheumatol 2006; 18: 601\u2013605.","journal-title":"Curr Op Rheumatol"},{"key":"BFgene200937_CR17","doi-asserted-by":"publisher","first-page":"85","DOI":"10.3109\/08916939709003851","volume":"26","author":"Q Huang","year":"1997","unstructured":"Huang Q, Parfitt A, Grennan DM, Manolios N . X-chromosome inactivation in monozygotic twins with systemic lupus erythematosus. Autoimmunity 1997; 26: 85\u201393.","journal-title":"Autoimmunity"},{"key":"BFgene200937_CR18","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1093\/qjmed\/89.9.713","volume":"89","author":"PA Hayward","year":"1996","unstructured":"Hayward PA, Satsangi J, Jewell DP . Inflammatory bowel disease and the X chromosome. QJM 1996; 89: 713\u2013718.","journal-title":"QJM"},{"key":"BFgene200937_CR19","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1046\/j.1365-2265.2001.01296.x","volume":"55","author":"M Elsheikh","year":"2001","unstructured":"Elsheikh M, Wass JA, Conway GS . Autoimmune thyroid syndrome in women with Turner's syndrome\u2014the association with karyotype. Clin Endocrinol 2001; 55: 223\u2013226.","journal-title":"Clin Endocrinol"},{"key":"BFgene200937_CR20","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1097\/00005176-199805000-00002","volume":"26","author":"M Bonamico","year":"1998","unstructured":"Bonamico M, Bottaro G, Pasquino AM, Caruso-Nicoletti M, Mariani P, Gemme G et al. Celiac disease and Turner syndrome. J Pediatr Gastroenterol Nutrit 1998; 26: 496\u2013499.","journal-title":"J Pediatr Gastroenterol Nutrit"},{"key":"BFgene200937_CR21","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1515\/JPEM.2006.19.2.149","volume":"19","author":"M Bettendorf","year":"2006","unstructured":"Bettendorf M, Doerr HG, Hauffa BP, Lindberg A, Mehls O, Partsch CJ et al. Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment. J Pediatr Endocrinol 2006; 19: 149\u2013154.","journal-title":"J Pediatr Endocrinol"},{"key":"BFgene200937_CR22","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.autrev.2006.03.005","volume":"6","author":"J Rovensky","year":"2006","unstructured":"Rovensky J . Rheumatic diseases and Klinefelter's syndrome. Autoimmun Rev 2006; 6: 33\u201336.","journal-title":"Autoimmun Rev"},{"key":"BFgene200937_CR23","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1139\/O08-100","volume":"86","author":"SK Sidhu","year":"2008","unstructured":"Sidhu SK, Minks J, Chang SC, Cotton AM, Brown CJ . X chromosome inactivation: heterogeneity of heterochromatin. Biochem Cell Biol 2008; 86: 370\u2013379.","journal-title":"Biochem Cell Biol"},{"key":"BFgene200937_CR24","doi-asserted-by":"publisher","first-page":"6352","DOI":"10.4049\/jimmunol.179.9.6352","volume":"179","author":"Q Lu","year":"2007","unstructured":"Lu Q, Wu A, Tesmer L, Ray D, Yousif N, Richardson B . Demethylation of CD40LG on the inactive X in T cells from women with lupus. J Immunol 2007; 179: 6352\u20136358.","journal-title":"J Immunol"},{"key":"BFgene200937_CR25","doi-asserted-by":"publisher","first-page":"4164","DOI":"10.1002\/art.23060","volume":"56","author":"CO Jacob","year":"2007","unstructured":"Jacob CO, Reiff A, Armstrong DL, Myones BL, Silverman E, Klein-Gitelman M et al. Identification of novel susceptibility genes in childhood-onset systemic lupus erythematosus using a uniquely designed candidate gene pathway platform. Arthritis Rheum 2007; 56: 4164\u20134173.","journal-title":"Arthritis Rheum"},{"key":"BFgene200937_CR26","doi-asserted-by":"publisher","first-page":"e1727","DOI":"10.1371\/journal.pone.0001727","volume":"3","author":"AH Sawalha","year":"2008","unstructured":"Sawalha AH, Webb R, Han S, Kelly JA, Kaufman KM, Kimberly RP et al. Common variants within MECP2 confer risk of systemic lupus erythematosus. PLoS One 2008; 3: e1727.","journal-title":"PLoS One"}],"container-title":["Genes & Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/gene200937.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene200937","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene200937.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T16:17:46Z","timestamp":1647965866000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/gene200937"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,21]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,7]]}},"alternative-id":["BFgene200937"],"URL":"https:\/\/doi.org\/10.1038\/gene.2009.37","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"value":"1466-4879","type":"print"},{"value":"1476-5470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,21]]},"assertion":[{"value":"22 December 2008","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 March 2009","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2009","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}