{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:46:04Z","timestamp":1791139564008,"version":"4.1.0"},"reference-count":42,"publisher":"National Academy of Sciences","issue":"42","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2008,10,21]]},"abstract":"<jats:p>\n                    Dyggve\u2013Melchior\u2013Clausen syndrome and Smith-McCort dysplasia are recessive spondyloepimetaphyseal dysplasias caused by loss-of-function mutations in dymeclin (\n                    <jats:italic>Dym<\/jats:italic>\n                    ), a gene with previously unknown function. Here we report that\n                    <jats:italic>Dym<\/jats:italic>\n                    -deficient mice display defects in endochondral bone formation similar to that of Dyggve\u2013Melchior\u2013Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species.\n                    <jats:italic>Dym<\/jats:italic>\n                    -mutant cells display multiple defects in vesicle traffic, as evidenced by enhanced dispersal of Golgi markers in interphase cells, delayed Golgi reassembly after brefeldin A treatment, delayed retrograde traffic of an endoplasmic reticulum-targeted Shiga toxin B subunit, and altered furin trafficking; and the Dym protein associates with multiple cellular proteins involved in vesicular traffic. These results establish dymeclin as a novel protein involved in Golgi organization and intracellular vesicle traffic and clarify the molecular basis for chondrodysplasia in mice and men.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0804259105","type":"journal-article","created":{"date-parts":[[2008,10,13]],"date-time":"2008-10-13T20:54:14Z","timestamp":1223931254000},"page":"16171-16176","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":43,"title":["Dyggve\u2013Melchior\u2013Clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic"],"prefix":"10.1073","volume":"105","author":[{"given":"Anna B.","family":"Osipovich","sequence":"first","affiliation":[{"name":"Department of Microbiology and Immunology, Vanderbilt University School of Medicine, 1161 21st Ave. South, Nashville, TN 37232-2363"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer L.","family":"Jennings","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Vanderbilt University School of Medicine, 1161 21st Ave. South, Nashville, TN 37232-2363"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Vanderbilt University School of Medicine, 1161 21st Ave. South, Nashville, TN 37232-2363"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Link","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Vanderbilt University School of Medicine, 1161 21st Ave. South, Nashville, TN 37232-2363"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Earl","family":"Ruley","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Vanderbilt University School of Medicine, 1161 21st Ave. South, Nashville, TN 37232-2363"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2008,10,21]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1534-5807(02)00157-0"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2003.12.003"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10828"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0720-048X(01)00397-7"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/12699"},{"key":"e_1_3_3_6_2","first-page":"5","article-title":"Type II collagen defects in the chondrodysplasias. I. 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