{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T20:45:26Z","timestamp":1778273126519,"version":"3.51.4"},"reference-count":38,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5125","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1993,8,27]]},"abstract":"<jats:p>\n            The gene encoding \u03b16(IV) collagen,\n            <jats:italic>COL4A6<\/jats:italic>\n            , was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of the \u03b15(IV) collagen gene,\n            <jats:italic>COL4A5<\/jats:italic>\n            . In earlier studies, intragenic deletions of\n            <jats:italic>COL4A5<\/jats:italic>\n            were detected in a subset of patients with Alport syndrome (AS), a hereditary defect of basement membranes. In some families, AS cosegregates with diffuse leiomyomatosis (DL), a benign smooth muscle tumor diathesis. Here it is shown that patients with AS-DL harbor deletions that disrupt both\n            <jats:italic>COL4A5<\/jats:italic>\n            and\n            <jats:italic>COL4A6<\/jats:italic>\n            . Thus, type IV collagen may regulate smooth muscle differentiation and morphogenesis.\n          <\/jats:p>","DOI":"10.1126\/science.8356449","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T23:05:09Z","timestamp":1160089509000},"page":"1167-1169","source":"Crossref","is-referenced-by-count":226,"title":["Deletion of the Paired \u03b15(IV) and \u03b16(IV) Collagen Genes in Inherited Smooth Muscle Tumors"],"prefix":"10.1126","volume":"261","author":[{"given":"Jing","family":"Zhou","sequence":"first","affiliation":[{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06536-0812."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06536-0812."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hubert","family":"Smeets","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center, University Hospital, Nijmegen, Netherlands."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[{"name":"INSERM Unit\u00e9 192, H\u00f4pital Necker-Enfants Malades, Paris, France."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pekka","family":"Laurila","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Helsinki, Helsinki, Finland."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"de Paepe","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University Hospital, Ghent, Belgium."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl","family":"Tryggvason","sequence":"additional","affiliation":[{"name":"Biocenter and Department of Biochemistry, University of Oulu, Oulu, Finland."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen T.","family":"Reeders","sequence":"additional","affiliation":[{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06536-0812."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1038\/ki.1992.402","volume":"42","year":"1992","unstructured":"ANTIGNAC, C, ALPORT SYNDROME AND DIFFUSE LEIOMYOMATOSIS - 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