{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,14]],"date-time":"2026-11-14T14:15:32Z","timestamp":1794665732333,"version":"4.9.1"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,12,7]],"date-time":"2004-12-07T00:00:00Z","timestamp":1102377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2005,2]]},"abstract":"<jats:p>Arterial tortuosity associated with hyperextensible skin and hypermobility of joints, features that are characteristics of Ehlers\u2013Danlos syndrome (EDS), has been described in several families. An arterial tortuosity locus has recently been mapped to chromosome 20q13. Here, we report a consanguineous Kurdish family in which an affected child manifested elongation and severe tortuosity of the aorta, carotid, and other arteries. Additional clinical symptoms include loose skin, hypermobile joints, hernias, and facial features that resemble EDS individuals. To examine whether the arterial tortuosity locus was involved in this child, homozygosity analysis was performed using microsatellite markers on 20q13. The affected child was found homozygous, whereas the unaffected parents and three siblings were heterozygous. Additional typing defined the genomic interval to a 37\u2010c<jats:sc>m<\/jats:sc> region within which the arterial tortuosity locus is located. Three functional candidate genes (<jats:italic>B4GALT5<\/jats:italic>, <jats:italic>KCNB1<\/jats:italic>, and <jats:italic>PTGIS<\/jats:italic>) were sequenced. No mutations were discovered in the coding regions of these three genes and the promoter regions of <jats:italic>B4GALT5<\/jats:italic> and <jats:italic>KCNB1<\/jats:italic> genes. Moreover, the B4GALT5 mRNA expression was unaltered in patient\u2010derived lymphoblastoid cells. In the <jats:italic>PTGIS<\/jats:italic> gene promoter, the affected child was homozygous for eight variable number of tandem repeats, while parents and unaffected siblings carried six repeats.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00391.x","type":"journal-article","created":{"date-parts":[[2005,1,28]],"date-time":"2005-01-28T16:57:16Z","timestamp":1106931436000},"page":"183-188","source":"Crossref","is-referenced-by-count":26,"title":["A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13"],"prefix":"10.1111","volume":"67","author":[{"given":"SHE","family":"Zaidi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Peltekova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Lindinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AD","family":"Paterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u2010C","family":"Tsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Faiyaz\u2010Ul\u2010Haque","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AS","family":"Teebi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,12,7]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.39.1.109"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80342-2"},{"issue":"8","key":"e_1_2_6_4_2","first-page":"204","article-title":"Familial aggregation of a \u2018new\u2019 connective\u2010tissue disorder: a nosologic problem","volume":"7","author":"Welch JP","year":"1971","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<121::AID-AJMG1>3.3.CO;2-X"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<289::AID-AJMG11>3.3.CO;2-M"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951100008854"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2003.tb00578.x"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20589"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<141::AID-AJMG13>3.3.CO;2-Y"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1590\/S0066-782X2000000800006"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.10.747"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI12881"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003093421001"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.41.28841"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30005"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa002939"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/302504"},{"issue":"16","key":"e_1_2_6_19_2","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting procedure for extracting DNA from human nucleated cells","volume":"3","author":"Miller SA","year":"1988","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"e_1_2_6_20_2","first-page":"L621","article-title":"Molecular basis and function of voltage\u2010gated K+ channels in pulmonary arterial smooth muscle cells","volume":"274","author":"Yuan XJ","year":"1998","journal-title":"Am J Physiol"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.98.14.1400"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.2001.281.6.L1350"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.2001.91.5.2322"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1994.1652"},{"issue":"5","key":"e_1_2_6_25_2","first-page":"890","article-title":"Activation of thromboxane and prostacyclin receptors elicits opposing effects on vascular smooth muscle cell growth and mitogen\u2010activated protein kinase signaling cascades","volume":"48","author":"Jones DA","year":"1995","journal-title":"Mol Pharmacol"},{"issue":"3","key":"e_1_2_6_26_2","first-page":"293","article-title":"Pharmacology and endogenous roles of prostaglandin endoperoxides, thromboxane A2, and prostacyclin","volume":"30","author":"Moncada S","year":"1978","journal-title":"Pharmacol Rev"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M104769200"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(02)02341-0"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.19.3.727"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000034733.93020.BC"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-6980(02)00016-3"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000444"},{"key":"e_1_2_6_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-7061(00)01216-4"},{"key":"e_1_2_6_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2003.10.016"},{"key":"e_1_2_6_35_2","doi-asserted-by":"publisher","DOI":"10.1096\/fj.01-1042com"},{"issue":"6","key":"e_1_2_6_36_2","first-page":"1561","article-title":"Quantitative MR imaging study of intravitreal sustained release of VEGF in rabbits","volume":"41","author":"Alikacem N","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00391.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00391.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T09:10:16Z","timestamp":1696929016000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00391.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,7]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,2]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00391.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00391.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,12,7]]}}}