{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T08:27:52Z","timestamp":1746088072460},"reference-count":52,"publisher":"Walter de Gruyter GmbH","issue":"11-12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We analyzed mRNA expression of X-linked inhibitor of apoptosis protein (XIAP) in patients with Turner syndrome (TS) and examined its association with phenotypic features.<\/jats:p><jats:p>XIAP mRNA expression levels were investigated in 98 patients with TS in total RNA extracted from blood leucocytes by real time quantitative polymerase chain reaction.<\/jats:p><jats:p>Levels of XIAP mRNA were significantly lower in patients with bicuspid aortic valves (BAV; n=13) than those without (log XIAP \u20131.17\u00b10.3 vs. \u20130.94\u00b10.2, p=0.002). Significantly higher expression of XIAP mRNA was seen in patients with a mosaic karyotype and renal malformations (log XIAP \u20130.79\u00b10.3 vs. \u20131.0\u00b10.3, p=0.03). No correlations were seen between XIAP and other manifestations.<\/jats:p><jats:p>Abnormal expression of XIAP may be an important underlying mechanism in the development of BAV and renal malformations in TS. However, abnormal XIAP mRNA expression, as determined from peripheral mononuclear cells, does not appear to explain all the somatic and visceral stigmata of TS.<\/jats:p>","DOI":"10.1515\/jpem-2014-0208","type":"journal-article","created":{"date-parts":[[2014,11,12]],"date-time":"2014-11-12T14:21:55Z","timestamp":1415802115000},"source":"Crossref","is-referenced-by-count":4,"title":["Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP)"],"prefix":"10.1515","volume":"28","author":[{"given":"Ganesh S.","family":"Jevalikar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Zacharin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven W.","family":"Yau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winnie","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Ijspeert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo C.","family":"Russo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George A.","family":"Werther","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew A.","family":"Sabin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref51","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s00467-006-0057-y","article-title":"Role of mitotic pro - apoptotic and anti - apoptotic factors in human kidney development","volume":"21","author":"Carev","year":"2006","journal-title":"Pediatr Nephrol"},{"key":"ref281","first-page":"351","article-title":"syndrome","author":"Sybert","year":"2004","journal-title":"Engl J Med"},{"key":"ref501","article-title":"AR VS HA Evidence for a Turner syndrome locus or loci at Xp","volume":"11","author":"Zinn","year":"1998","journal-title":"Am J Hum Genet"},{"key":"ref21","first-page":"351","article-title":"syndrome","author":"Sybert","year":"2004","journal-title":"Engl J Med"},{"key":"ref461","first-page":"105","article-title":"Cardiac developmental defects and eccentric right ventricular hypertrophy in cardiomyocyte focal adhesion kinase conditional knockout mice","author":"Peng","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref341","first-page":"37","article-title":"Effects of fluctuating glucose levels on neuronal cells in vitro","author":"Russo","year":"2012","journal-title":"Neurochem Res"},{"key":"ref421","first-page":"130","article-title":"Different patterns of extracellular matrix protein expression in the convexity and the concavity of the dilated aorta with bicuspid aortic valve : preliminary results","volume":"11","author":"Cotrufo","year":"2005","journal-title":"Cardiovasc Surg"},{"key":"ref431","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1161\/CIRCRESAHA.107.163667","article-title":"linked inhibitor of apoptosis protein is an important regulator of vascular endothelial growth factor - 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mediated cell adhesion and migration","author":"Kim","year":"2010","journal-title":"Am J Physiol Heart"},{"key":"ref91","first-page":"276","article-title":"linked inhibitor of apoptosis protein inhibits caspase in distinct modes","author":"Suzuki","year":"2001","journal-title":"J Biol Chem"},{"key":"ref331","first-page":"11","article-title":"Assignment of human inhibitor of apoptosis protein genes xiap hiap hiap to chromosomes q - q by fluorescence in situ hybridization","volume":"25","author":"Rajcan","year":"1996","journal-title":"Genomics"},{"key":"ref371","first-page":"95","article-title":"Increased spontaneous tumor necrosis factor receptor - and CD mediated apoptosis in cord blood cell subsets from Turner syndrome","author":"Gupta","year":"2003","journal-title":"Genes Immun"},{"key":"ref391","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1136\/jmedgenet-2013-101720","article-title":"Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm inTurner syndrome","author":"Bondy","year":"2013","journal-title":"J Med Genet"},{"key":"ref451","first-page":"576","article-title":"is essential for shear stress - 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