{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T05:40:41Z","timestamp":1783402841768,"version":"3.54.6"},"reference-count":20,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,6,1]],"date-time":"2023-06-01T00:00:00Z","timestamp":1685577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T00:00:00Z","timestamp":1683072000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone Reports"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1016\/j.bonr.2023.101683","type":"journal-article","created":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T12:43:22Z","timestamp":1683204202000},"page":"101683","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco"],"prefix":"10.1016","volume":"18","author":[{"given":"Larissa","family":"Mattern","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Begemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heide","family":"Delbr\u00fcck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Holschbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Schr\u00f6der","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine M.","family":"Schacht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Elbracht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bonr.2023.101683_bb0005","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1097\/01202412-200601000-00009","article-title":"Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia strudwick type","volume":"15","author":"Amirfeyz","year":"2006","journal-title":"J. Pediatr. Orthop. B"},{"key":"10.1016\/j.bonr.2023.101683_bb0010","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1093\/bioinformatics\/14.4.380","article-title":"MView: a web-compatible database search or multiple alignment viewer","volume":"14","author":"Brown","year":"1998","journal-title":"Bioinformatics"},{"key":"10.1016\/j.bonr.2023.101683_bb0015","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1002\/ajmg.1320360403","article-title":"Beukes familial hip dysplasia: an autosomal dominant entity","volume":"36","author":"Cilliers","year":"1990","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bonr.2023.101683_bb0020","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1111\/cge.13134","article-title":"Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation","volume":"93","author":"Di Rocco","year":"2018","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bonr.2023.101683_bb0025","doi-asserted-by":"crossref","first-page":"14283","DOI":"10.1038\/srep14283","article-title":"SeqMule: automated pipeline for analysis of human exome\/genome sequencing data","volume":"5","author":"Guo","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bonr.2023.101683_bb0030","doi-asserted-by":"crossref","first-page":"10248","DOI":"10.1074\/jbc.M110.172171","article-title":"Structure of ubiquitin-fold modifier 1-specific protease UfSP2","volume":"286","author":"Ha","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bonr.2023.101683_bb0035","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","article-title":"Highly accurate protein structure prediction with AlphaFold","volume":"596","author":"Jumper","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.bonr.2023.101683_bb0040","doi-asserted-by":"crossref","first-page":"5256","DOI":"10.1074\/jbc.M610590200","article-title":"Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2","volume":"282","author":"Kang","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.bonr.2023.101683_bb0045","doi-asserted-by":"crossref","first-page":"1977","DOI":"10.1038\/sj.emboj.7600205","article-title":"A novel protein-conjugating system for Ufm1, a ubiquitin-fold modifier","volume":"23","author":"Komatsu","year":"2004","journal-title":"EMBO J."},{"key":"10.1016\/j.bonr.2023.101683_bb0050","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkr1257","article-title":"A comprehensive framework for prioritizing variants in exome sequencing studies of mendelian diseases","volume":"40","author":"Li","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bonr.2023.101683_bb0055","doi-asserted-by":"crossref","first-page":"900","DOI":"10.1038\/s41436-020-01071-z","article-title":"A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy","volume":"23","author":"Ni","year":"2021","journal-title":"Genet Med."},{"key":"10.1016\/j.bonr.2023.101683_bb0060","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2013a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J. Comput. Chem."},{"key":"10.1016\/j.bonr.2023.101683_bb0065","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/cr.2009.6","article-title":"DOG 1.0: illustrator of protein domain structures","volume":"19","author":"Ren","year":"2009","journal-title":"Cell Res."},{"key":"10.1016\/j.bonr.2023.101683_bb0070","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG laboratory quality assurance committee, standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"10.1016\/j.bonr.2023.101683_bb0075","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.a.36922","article-title":"A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype","volume":"167","author":"Terhal","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bonr.2023.101683_bb0080","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/ng0995-87","article-title":"Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, strudwick type","volume":"11","author":"Tiller","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bonr.2023.101683_bb0085","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63132","article-title":"Nosology of genetic skeletal disorders: 2023 revision","author":"Unger","year":"2023","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bonr.2023.101683_bb0090","doi-asserted-by":"crossref","first-page":"558","DOI":"10.7196\/SAMJnew.7917","article-title":"Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended south african family with beukes hip dysplasia","volume":"105","author":"Watson","year":"2015","journal-title":"S. Afr. Med. J."},{"key":"10.1016\/j.bonr.2023.101683_bb0095","doi-asserted-by":"crossref","first-page":"255","DOI":"10.3390\/biom11020255","article-title":"Highly specialized ubiquitin-like modifications: shedding light into the UFM1 enigma","volume":"11","author":"Witting","year":"2021","journal-title":"Biomolecules"},{"key":"10.1016\/j.bonr.2023.101683_bb0100","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2020.104021","article-title":"UFSP2-related spondyloepimetaphyseal dysplasia: a confirmatory report","volume":"63","author":"Zhang","year":"2020","journal-title":"Eur. J. Med. Genet."}],"container-title":["Bone Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352187223000311?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352187223000311?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T16:26:22Z","timestamp":1762446382000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352187223000311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":20,"alternative-id":["S2352187223000311"],"URL":"https:\/\/doi.org\/10.1016\/j.bonr.2023.101683","relation":{},"ISSN":["2352-1872"],"issn-type":[{"value":"2352-1872","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco","name":"articletitle","label":"Article Title"},{"value":"Bone Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bonr.2023.101683","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"101683"}}