{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,19]],"date-time":"2025-05-19T08:27:42Z","timestamp":1747643262185,"version":"3.40.5"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,10]],"date-time":"2022-04-10T00:00:00Z","timestamp":1649548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease characterized by elongation and tortuosity of the large\u2010 and medium\u2010sized arteries. ATS patients display features that are also found in Ehlers\u2013Danlos syndrome (EDS) patients. ATS is caused by pathogenic mutations in the <jats:italic>SLC2A10<\/jats:italic> gene, which encodes for the glucose transporter, GLUT10. This study aimed at examining the ultrastructure of skin for abnormalities that can explain the loose skin and arterial phenotypes of Arab patients with the p.S81R mutation in <jats:italic>SLC2A10<\/jats:italic>. Forty\u2010eight patients with <jats:italic>SLC2A10<\/jats:italic> mutation were recruited for this study. Skin biopsy specimens from three children with ATS and a healthy child were examined by electron microscopy to determine the ultrastructure of collagen and elastin. Histopathologic staining of sections from tissue biopsy specimens was also performed. Large spaces were observed among the collagen fibrils in the skin biopsy specimens obtained from ATS patients, suggesting disorganization of the collagen structures. Furthermore, elastin fiber contents and their thickness are reduced in the skin. In small muscular arteries in the skin from ATS patients, discontinuous internal elastic lamina, lack of myofilaments, and disorganized medial smooth muscle cells with vacuolated cytoplasm are present. The disorganization of collagen fibrils and reduced elastin contents in the skin may explain the loose skin phenotype of ATS patients similar to the EDS patients. The lack of elastin in small muscular arteries may have contributed to the development of arterial tortuosity in these patients.<\/jats:p>","DOI":"10.1111\/cup.14228","type":"journal-article","created":{"date-parts":[[2022,3,18]],"date-time":"2022-03-18T13:34:24Z","timestamp":1647610464000},"page":"618-622","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome"],"prefix":"10.1111","volume":"49","author":[{"given":"Muhammad","family":"Faiyaz\u2010Ul\u2010Haque","sequence":"first","affiliation":[{"name":"Department of Pathology, College of Medicine King Saud University  Riyadh Saudi Arabia"},{"name":"Department of Pathology and Laboratory Medicine Hamad Medical Corporation  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Mubarak","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine King Saud University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atqah","family":"AbdulWahab","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hamad Medical Corporation  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ammar C.","family":"AlRikabi","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine King Saud University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abbas H.","family":"Alsaeed","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Sciences, College of Applied Medical Sciences King Saud University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maram","family":"Al\u2010Otaiby","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine King Saud University  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zafar","family":"Nawaz","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Hamad Medical Corporation  Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed H. E.","family":"Zaidi","sequence":"additional","affiliation":[{"name":"Genomics, Ontario Institute for Cancer Research  Toronto Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4294-6825","authenticated-orcid":false,"given":"Sulman","family":"Basit","sequence":"additional","affiliation":[{"name":"Center for Genetics and Inherited Diseases Taibah University Almadinah Almunawwarah  Medina Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,10]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2003.tb00578.x"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1764"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20623"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01049.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.atherosclerosis.2008.07.026"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0839-2"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-021-03960-w"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.2478\/bjmg-2018-0009"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.253"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.12204"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms18081820"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30272"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<121::AID-AJMG1>3.0.CO;2-U"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<141::AID-AJMG13>3.0.CO;2-6"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.0000026863.51751.DE"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv382"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20589"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1080\/07853890801986594"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01870.x"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.36.3.400"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvn319"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.20409"}],"container-title":["Journal of Cutaneous Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.14228","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cup.14228","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cup.14228","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T20:58:54Z","timestamp":1692824334000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cup.14228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,10]]},"references-count":22,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["10.1111\/cup.14228"],"URL":"https:\/\/doi.org\/10.1111\/cup.14228","archive":["Portico"],"relation":{},"ISSN":["0303-6987","1600-0560"],"issn-type":[{"type":"print","value":"0303-6987"},{"type":"electronic","value":"1600-0560"}],"subject":[],"published":{"date-parts":[[2022,4,10]]},"assertion":[{"value":"2021-10-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}