{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:18:22Z","timestamp":1790979502812,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,5,23]],"date-time":"2003-05-23T00:00:00Z","timestamp":1053648000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    X\u2010linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. The gene responsible for this pleiotropic syndrome (\n                    <jats:italic>ED1<\/jats:italic>\n                    ) consists of 12 exons, 8 of them coding for a transmembrane protein (ectodysplasin\u2010A; EDA\u2010A) involved in the developmental process of epithelial\u2013mesenchymal interaction.\n                    <jats:italic>ED1<\/jats:italic>\n                    mutations that cause alterations in this protein lead to the XLHED phenotype. The major objective of the present study was to detect\n                    <jats:italic>ED1<\/jats:italic>\n                    mutations in four Brazilian families with the XLHED phenotype and to compare them to the more than 60 different mutations already reported. DNA of the EDA\u2010A coding exons was amplified by PCR, and single strand conformation analysis (SSCA) of the electrophoretic bands was carried out in polyacrylamide gel stained with silver nitrate. Two of these four families showed altered DNA band patterns. Subsequent DNA sequencing of the two mutated exons showed: (1) a 36 nucleotide deletion at exon 5 responsible for the loss of four Gly\u2010X\u2010Y repeats of the collagen subdomain of EDA\u2010A; (2) a guanine deletion at exon 6 (966 or 967 sites) that alters EDA\u2010A after amino acid 241 and leads to a premature ending at amino acid 279. This mutation at exon 6 seems not to have been reported previously and determines a truncated EDA\u2010A without a part of its extracellular domain that contains the whole TNF homologue subdomain. These two DNA mutations are compatible with the XLHED phenotype. In the other two families the PCR\u2013SSCA methodology was unable to detect any mutation responsible for the XLHED phenotype. \u00a9 2003 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.20276","type":"journal-article","created":{"date-parts":[[2003,8,26]],"date-time":"2003-08-26T11:23:58Z","timestamp":1061897038000},"page":"51-55","source":"Crossref","is-referenced-by-count":22,"title":["X\u2010linked hypohidrotic ectodermal dysplasia mutations in Brazilian families"],"prefix":"10.1002","volume":"122A","author":[{"given":"\u00c1tila F.","family":"Visinoni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo L.R.","family":"de Souza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Newton","family":"Freire\u2010Maia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomaz R.","family":"Gollop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleidi A.","family":"Chautard\u2010Freire\u2010Maia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,5,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00065-1.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.11.1661"},{"key":"e_1_2_6_4_1","first-page":"137","article-title":"Analysis of the VNTR locus DIS80 by the PCR followed by high\u2010resolution PAGE","volume":"50","author":"Budowle B","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282024"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2079"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.2.112"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152419"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0001566000009910"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1586"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02678.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/213408a0"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0895-409"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1225"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M002691200"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.19.5444"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9955"},{"key":"e_1_2_6_18_1","unstructured":"Lisboa\u2010CostaT.2001.Displasias ectod\u00e9rmicas do grupo A: elabora\u00e7\u00e3o de um banco de dados informatizado para aux\u00edlio ao diagn\u00f3stico gen\u00e9tico\u2010cl\u00ednico. Master's thesis Federal University of Paran\u00e1 Curitiba Brazil.245p."},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00656.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/301984"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.33"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040202"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281698"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M101280200"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.3.212"},{"key":"e_1_2_6_26_1","doi-asserted-by":"crossref","first-page":"4691","DOI":"10.1242\/dev.127.21.4691","article-title":"Edar\/Eda interactions regulate enamel knot formation in tooth morphogenesis","volume":"127","author":"Tucker AS","year":"2000","journal-title":"Development (Cambridge)"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5491.523"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00443.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20276","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20276","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T13:30:41Z","timestamp":1697031041000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,23]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,9,15]]}},"alternative-id":["10.1002\/ajmg.a.20276"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20276","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,23]]}}}