{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:43:22Z","timestamp":1787013802438,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T00:00:00Z","timestamp":1655683200000},"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":["Animal Genetics"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Osteochondromatosis is a benign proliferative disorder characterized by cartilage\u2010capped bony protuberances. In humans and most mammals, variants in the\n                    <jats:italic>EXT1<\/jats:italic>\n                    or\n                    <jats:italic>EXT2<\/jats:italic>\n                    gene are strongly correlated with the etiology of osteochondromatosis. However, in cats, osteochondromatosis has only been associated with feline leukemia virus infection. In this study, to explore other factors involved in the etiology of feline osteochondromatosis, we examined the\n                    <jats:italic>EXT1<\/jats:italic>\n                    and\n                    <jats:italic>EXT2<\/jats:italic>\n                    genes in a feline leukemia virus\u2010negative cat with osteochondromatosis. Genetic analysis revealed a heterozygous single base pair duplication in exon 6 of the\n                    <jats:italic>EXT1<\/jats:italic>\n                    gene (XM_023248762.2:c.1468dupC), leading to a premature stop codon in the EXT1 protein. Notably, this frameshift variant is recognized as one of the most common pathogenic variants in human osteochondromatosis. Our data suggest for the first time that genetic variants can have etiologic roles in osteochondromatosis in cats, as in humans and other animals.\n                  <\/jats:p>","DOI":"10.1111\/age.13232","type":"journal-article","created":{"date-parts":[[2022,6,20]],"date-time":"2022-06-20T03:43:33Z","timestamp":1655696613000},"page":"696-699","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A frameshift variant in the\n                    <scp>\n                      <i>EXT1<\/i>\n                    <\/scp>\n                    gene in a feline leukemia virus\u2010negative cat with osteochondromatosis"],"prefix":"10.1111","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4613-7232","authenticated-orcid":false,"given":"Yuji","family":"Fujii","sequence":"first","affiliation":[{"name":"Joint Graduate School of Veterinary Sciences Gifu University  Gifu Gifu Japan"},{"name":"Animal Medical Center Gifu University  Gifu Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Uno","sequence":"additional","affiliation":[{"name":"Animal Medical Center Gifu University  Gifu Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichi","family":"Takitani","sequence":"additional","affiliation":[{"name":"Goyu Animal Hospital  Toyokawa Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryota","family":"Iwasaki","sequence":"additional","affiliation":[{"name":"Animal Medical Center Gifu University  Gifu Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryutaro","family":"Yoshikawa","sequence":"additional","affiliation":[{"name":"Animal Medical Center Gifu University  Gifu Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Misuzu","family":"Okajima","sequence":"additional","affiliation":[{"name":"Joint Graduate School of Veterinary Sciences Gifu University  Gifu Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasushi","family":"Makino","sequence":"additional","affiliation":[{"name":"Goyu Animal Hospital  Toyokawa Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoto","family":"Ito","sequence":"additional","affiliation":[{"name":"Joint Graduate School of Veterinary Sciences Gifu University  Gifu Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Mori","sequence":"additional","affiliation":[{"name":"Joint Graduate School of Veterinary Sciences Gifu University  Gifu Gifu Japan"},{"name":"Animal Medical Center Gifu University  Gifu Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,6,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/030098588702400314"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jvim.15073"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz046"},{"key":"e_1_2_6_5_1","first-page":"53","article-title":"Multiple cartilaginous exostoses in a litter of dogs","volume":"156","author":"Gee B.R.","year":"1970","journal-title":"Journal of the American Veterinary Medical Association"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfms.2007.06.005"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/v4112684"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.262"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2008.070086"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0910875107"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1740\u20108261.2003.tb00529.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100038\u20101623739"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.J.00949"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1590\/0103\u20108478cr20151558"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.4102\/jsava.v83i1.104"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.382"},{"key":"e_1_2_6_17_1","first-page":"285","article-title":"Hereditary multiple exostoses. 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