{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T07:03:03Z","timestamp":1782802983562,"version":"3.54.5"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"21","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1995,10,10]]},"abstract":"<jats:p>The so-called very low density lipoprotein receptors (VLDLRs) are related to the LDLR gene family. So far, naturally occurring mutations have only been described for the prototype LDLR; in humans, they cause familial hypercholesterolemia. Here we describe a naturally occurring mutation in a VLDLR that causes a dramatic abnormal phenotype. Hens of the mutant restricted-ovulator chicken strain carry a single mutation, lack functional oocyte receptors, are sterile, and display severe hyperlipidemia with associated premature atherosclerosis. The mutation converts a cysteine residue into a serine, resulting in an unpaired cysteine and greatly reduced expression of the mutant avian VLDLR on the oocyte surface. Extraoocytic cells in the mutant produce higher than normal amounts of a differentially spliced form of the receptor that is characteristic for somatic cells but absent from germ cells.<\/jats:p>","DOI":"10.1073\/pnas.92.21.9905","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T09:21:02Z","timestamp":1149067262000},"page":"9905-9909","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":98,"title":["Mutant oocytic low density lipoprotein receptor gene family member causes atherosclerosis and female sterility."],"prefix":"10.1073","volume":"92","author":[{"given":"H","family":"Bujo","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics, Biocenter, Vienna, Austria."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Biocenter, Vienna, Austria."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Biocenter, Vienna, Austria."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Hermann","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Biocenter, Vienna, Austria."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Nimpf","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Biocenter, Vienna, Austria."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W J","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Biocenter, Vienna, Austria."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1995,10,10]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.92.21.9905","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T14:03:34Z","timestamp":1649858614000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.92.21.9905"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,10,10]]},"references-count":0,"journal-issue":{"issue":"21","published-print":{"date-parts":[[1995,10,10]]}},"alternative-id":["10.1073\/pnas.92.21.9905"],"URL":"https:\/\/doi.org\/10.1073\/pnas.92.21.9905","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,10,10]]},"assertion":[{"value":"1995-10-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}