{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T16:52:27Z","timestamp":1791910347566,"version":"4.3.4"},"reference-count":129,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,6]],"date-time":"2019-12-06T00:00:00Z","timestamp":1575590400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671804"],"award-info":[{"award-number":["81671804"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>COL2A1<\/jats:italic>\n                    gene encodes the alpha\u20101 chain of type II procollagen. Type II collagen, comprised of three identical alpha\u20101 chains, is the major component of cartilage.\n                    <jats:italic>COL2A1<\/jats:italic>\n                    gene variants are the etiologies of genetic diseases, termed type II collagenopathies, with a wide spectrum of clinical presentations. To date, at least 460 distinct\n                    <jats:italic>COL2A1<\/jats:italic>\n                    mutations, identified in 663 independent probands, and 21 definite disorders have been reported. Nevertheless, a well\u2010defined genotype\u2010phenotype correlation has not been established, and few hot spots of mutation have been reported. In this study, we analyzed data of\n                    <jats:italic>COL2A1<\/jats:italic>\n                    variants and clinical information of patients obtained from the Leiden Open Variation Database 3.0, as well as the currently available relevant literature. We determined the characteristics of the\n                    <jats:italic>COL2A1<\/jats:italic>\n                    variants and distributions of the clinical manifestations in patients, and identified four likely genotype\u2010phenotype correlations. Moreover, we classified 21\n                    <jats:italic>COL2A1<\/jats:italic>\n                    \u2010related disorders into five categories, which may assist clinicians in understanding the essence of these complex phenotypes and prompt genetic screening in clinical practice.\n                  <\/jats:p>","DOI":"10.1111\/cge.13680","type":"journal-article","created":{"date-parts":[[2019,11,23]],"date-time":"2019-11-23T11:03:54Z","timestamp":1574507034000},"page":"383-395","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Integrated analysis of\n                    <i>COL2A1<\/i>\n                    variant data and classification of type II collagenopathies"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6653-0085","authenticated-orcid":false,"given":"Boyan","family":"Zhang","sequence":"first","affiliation":[{"name":"Orthopedic Medical Center The Second Hospital of Jilin University  Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology First Bethune Hospital of Jilin University  Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naichao","family":"Wu","sequence":"additional","affiliation":[{"name":"Orthopedic Medical Center The Second Hospital of Jilin University  Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianing","family":"Li","sequence":"additional","affiliation":[{"name":"Jilin Provincial Key Laboratory of Animal Embryo Engineering, College of Animal Sciences Jilin University  Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"He","family":"Liu","sequence":"additional","affiliation":[{"name":"Orthopedic Medical Center The Second Hospital of Jilin University  Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jincheng","family":"Wang","sequence":"additional","affiliation":[{"name":"Orthopedic Medical Center The Second Hospital of Jilin University  Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,12,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a004978"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-49674-0_14"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/03008207.2014.908860"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/12.2.1025"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.01731"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.22203\/eCM.v012a07"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-3233(05)70009-7"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bip.20958"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2018.1509355"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.23"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20179"},{"issue":"1","key":"e_1_2_8_13_1","first-page":"39","article-title":"A 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