{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T20:03:10Z","timestamp":1792612990694,"version":"4.5.0"},"reference-count":65,"publisher":"Oxford University Press (OUP)","issue":"19","license":[{"start":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T00:00:00Z","timestamp":1689638400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"CAMS Innovation Fund for Medical Sciences","award":["2021-I2M-1-051"],"award-info":[{"award-number":["2021-I2M-1-051"]}]},{"name":"National High Level Hospital Clinical Research Funding","award":["2022-PUMCH-C-033"],"award-info":[{"award-number":["2022-PUMCH-C-033"]}]},{"name":"National High Level Hospital Clinical Research Funding","award":["2022-PUMCH-D-007"],"award-info":[{"award-number":["2022-PUMCH-D-007"]}]},{"name":"Dr Asok K. Ray and Purnima Ray Professorship in Pediatrics"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R03 HD099516-01A1"],"award-info":[{"award-number":["R03 HD099516-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Canada Research Chair program"},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FDN-167285"],"award-info":[{"award-number":["FDN-167285"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Human vertebral malformations (VMs) have an estimated incidence of 1\/2000 and are associated with significant health problems including congenital scoliosis (CS) and recurrent organ system malformation syndromes such as VACTERL (vertebral anomalies; anal abnormalities; cardiac abnormalities; tracheo-esophageal fistula; renal anomalies; limb anomalies). The genetic cause for the vast majority of VMs are unknown. In a CS\/VM patient cohort, three COL11A2 variants (R130W, R1407L and R1413H) were identified in two patients with cervical VM. A third patient with a T9 hemivertebra and the R130W variant was identified from a separate study. These substitutions are predicted to be damaging to protein function, and R130 and R1407 residues are conserved in zebrafish Col11a2. To determine the role for COL11A2 in vertebral development, CRISPR\/Cas9 was used to create a nonsense mutation (col11a2L642*) as well as a full gene locus deletion (col11a2del) in zebrafish. Both col11a2L642*\/L642* and col11a2del\/del mutant zebrafish exhibit vertebral fusions in the caudal spine, which form due to mineralization across intervertebral segments. To determine the functional consequence of VM-associated variants, we assayed their ability to suppress col11a2del VM phenotypes following transgenic expression within the developing spine. While wildtype col11a2 expression suppresses fusions in col11a2del\/+ and col11a2del\/del backgrounds, patient missense variant-bearing col11a2 failed to rescue the loss-of-function phenotype in these animals. These results highlight an essential role for COL11A2 in vertebral development and support a pathogenic role for two missense variants in CS.<\/jats:p>","DOI":"10.1093\/hmg\/ddad117","type":"journal-article","created":{"date-parts":[[2023,7,14]],"date-time":"2023-07-14T16:47:28Z","timestamp":1689353248000},"page":"2913-2928","source":"Crossref","is-referenced-by-count":25,"title":["COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis"],"prefix":"10.1093","volume":"32","author":[{"given":"Denise","family":"Rebello","sequence":"first","affiliation":[{"name":"Program in Developmental & Stem Cell Biology, The Hospital for Sick Children , Toronto, Ontario M5G 0A4, Canada"},{"name":"The University of Toronto Department of Molecular Genetics, , Toronto, Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Wohler","sequence":"additional","affiliation":[{"name":"Johns Hopkins University School of Medicine McKusick-Nathans Department of Genetic Medicine, , Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vida","family":"Erfani","sequence":"additional","affiliation":[{"name":"Program in Developmental & Stem Cell Biology, The Hospital for Sick Children , Toronto, Ontario M5G 0A4, Canada"},{"name":"The University of Toronto Department of Molecular Genetics, , Toronto, Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guozhuang","family":"Li","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, , Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexya N","family":"Aguilera","sequence":"additional","affiliation":[{"name":"University of Illinois-Chicago Department of Pediatrics, , Chicago, IL 60612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Santiago-Cornier","sequence":"additional","affiliation":[{"name":"San Jorge Children\u2019s and Women\u2019s Hospital Genetic Section, , San Juan, Puerto Rico 00912, USA"},{"name":"Ponce Health Sciences University Department of Public Health, , Ponce, Puerto Rico 00912, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sen","family":"Zhao","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, , Beijing 100730, China"},{"name":"Baylor College of Medicine Department of Molecular and Human Genetics, , Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven W","family":"Hwang","sequence":"additional","affiliation":[{"name":"Shriners Children\u2019s-Philadelphia , Philadelphia, PA 19140, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert D","family":"Steiner","sequence":"additional","affiliation":[{"name":"University of Wisconsin Department of Pediatrics, , Madison, WI 54449, USA"},{"name":"Marshfield Clinic Health System , Marshfield, WI 54449, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry Jianguo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, , Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina A","family":"Gurnett","sequence":"additional","affiliation":[{"name":"Washington University in St. Louis Department of Neurology, , St. Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathleen","family":"Raggio","sequence":"additional","affiliation":[{"name":"Hospital for Special Surgery , New York, NY 10021, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Wu","sequence":"additional","affiliation":[{"name":"Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Department of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, , Beijing 100730, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara","family":"Sobreira","sequence":"additional","affiliation":[{"name":"Johns Hopkins University School of Medicine McKusick-Nathans Department of Genetic Medicine, , Baltimore, MD 21205, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip F","family":"Giampietro","sequence":"additional","affiliation":[{"name":"University of Illinois-Chicago Department of Pediatrics, , Chicago, IL 60612, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7918-0953","authenticated-orcid":false,"given":"Brian","family":"Ciruna","sequence":"additional","affiliation":[{"name":"Program in Developmental & Stem Cell Biology, The Hospital for Sick Children , Toronto, Ontario M5G 0A4, Canada"},{"name":"The University of Toronto Department of Molecular Genetics, , Toronto, Ontario M5S 1A8, 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Pediatr. Orthop."},{"key":"2023091911314905700_ref3","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.1749-6632.2008.03452.x","article-title":"Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humans","volume":"1151","author":"Giampietro","year":"2009","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"2023091911314905700_ref4","doi-asserted-by":"crossref","first-page":"537","DOI":"10.2106\/JBJS.22.00277","article-title":"Retrospective analysis of associated anomalies in 636 patients with operatively treated congenital scoliosis","volume":"105","author":"Nan","year":"2023","journal-title":"J. Bone Jt. Surg.Am."},{"key":"2023091911314905700_ref5","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1146\/annurev.cellbio.17.1.311","article-title":"Vertebrate somitogenesis","volume":"17","author":"Pourquie","year":"2001","journal-title":"Annu. Rev. Cell Dev. 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Syndromol."},{"key":"2023091911314905700_ref10","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.cell.2012.02.054","article-title":"A mechanism for gene-environment interaction in the etiology of congenital scoliosis","volume":"149","author":"Sparrow","year":"2012","journal-title":"Cell"},{"key":"2023091911314905700_ref11","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1038\/s41436-018-0377-x","article-title":"TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model","volume":"21","author":"Liu","year":"2019","journal-title":"Genet. Med."},{"key":"2023091911314905700_ref12","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1111\/j.1399-0004.2005.00520.x","article-title":"An analysis of PAX1 in the development of vertebral malformations","volume":"68","author":"Giampietro","year":"2005","journal-title":"Clin. 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Genet."},{"key":"2023091911314905700_ref16","doi-asserted-by":"crossref","first-page":"1576","DOI":"10.1359\/jbmr.080503","article-title":"A missense T (Brachyury) mutation contributes to vertebral malformations","volume":"23","author":"Ghebranious","year":"2008","journal-title":"J. Bone Miner. Res."},{"key":"2023091911314905700_ref17","doi-asserted-by":"crossref","first-page":"1664","DOI":"10.1002\/ajmg.a.61607","article-title":"KIAA1217: a novel candidate gene associated with isolated and syndromic vertebral malformations","volume":"182","author":"Al Dhaheri","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"2023091911314905700_ref18","doi-asserted-by":"crossref","first-page":"3662","DOI":"10.1093\/hmg\/ddaa258","article-title":"Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice","volume":"29","author":"Martin","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"2023091911314905700_ref19","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/s10038-019-0698-x","article-title":"Identification of novel FBN1 variations implicated in congenital scoliosis","volume":"65","author":"Lin","year":"2020","journal-title":"J. Hum. Genet."},{"key":"2023091911314905700_ref20","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.3390\/genes12081126","article-title":"Novel FGFR1 variants are associated with congenital scoliosis","volume":"12","author":"Wang","year":"2021","journal-title":"Genes."},{"key":"2023091911314905700_ref21","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"2023091911314905700_ref22","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"2023091911314905700_ref23","first-page":"1271","article-title":"A functional polymorphism in COL11A1, which encodes the \u03b11 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation","volume":"81","author":"Mio","year":"2007","journal-title":"Am. J. Med. Genet."},{"key":"2023091911314905700_ref24","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/0092-8674(95)90493-X","article-title":"Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus","volume":"80","author":"Vikkula","year":"1995","journal-title":"Cell"},{"key":"2023091911314905700_ref25","first-page":"974","article-title":"Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall\/stickler phenotypes","volume":"65","author":"Annunen","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"2023091911314905700_ref26","first-page":"368","article-title":"Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene","volume":"66","author":"Melkoniemi","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"2023091911314905700_ref27","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1093\/hmg\/3.9.1561","article-title":"A stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene","volume":"3","author":"Brunner","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"2023091911314905700_ref28","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O","article-title":"Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym\u00fcller syndrome demonstrates its identity with heterozygous OSMED (nonocular stickler syndrome)","volume":"80","author":"Pihlajamaa","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"2023091911314905700_ref29","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/ajmg.a.30111","article-title":"A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular stickler syndrome","volume":"130A","author":"Vuoristo","year":"2004","journal-title":"Am. J. Med. Genet."},{"key":"2023091911314905700_ref30","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ajmg.a.34406","article-title":"Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2","volume":"158A","author":"Tompson","year":"2012","journal-title":"Am. J. Med. Genet."},{"key":"2023091911314905700_ref31","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/0092-8674(95)90492-1","article-title":"A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis","volume":"80","author":"Li","year":"1995","journal-title":"Cell"},{"key":"2023091911314905700_ref32","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/dvdy.1178","article-title":"Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED)","volume":"222","author":"Li","year":"2001","journal-title":"Dev. Dyn."},{"key":"2023091911314905700_ref33","first-page":"20170335","article-title":"The mechanical impact of col11a2 loss on joints; col11a2 mutant zebrafish show changes to joint development and function, which leads to early-onset osteoarthritis","volume":"14","author":"Lawrence","journal-title":"Philos. Trans. R. Soc. Lond. Ser. B Biol. Sci."},{"key":"2023091911314905700_ref34","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.ydbio.2018.04.005","article-title":"The role of the notochord in amniote vertebral column segmentation","volume":"439","author":"Ward","year":"2018","journal-title":"Dev. Biol."},{"key":"2023091911314905700_ref35","doi-asserted-by":"crossref","first-page":"3953","DOI":"10.1002\/dvdy.21805","article-title":"Identification of nucleus pulposus precursor cells and notochordal remnants in the mouse: implications for disk degeneration and chordoma formation","volume":"237","author":"Choi","year":"2008","journal-title":"Dev. Dyn."},{"key":"2023091911314905700_ref36","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1242\/dev.00952","article-title":"A central role for the notochord in vertebral patterning","volume":"131","author":"Fleming","year":"2004","journal-title":"Dev."},{"key":"2023091911314905700_ref37","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1016\/j.celrep.2018.01.084","article-title":"Spine patterning is guided by segmentation of the notochord sheath","volume":"22","author":"Wopat","year":"2018","journal-title":"Cell Rep."},{"key":"2023091911314905700_ref38","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1016\/j.matbio.2009.07.004","article-title":"Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity","volume":"28","author":"Baas","year":"2009","journal-title":"Matrix Biol."},{"key":"2023091911314905700_ref39","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1038\/s41586-019-1064-z","article-title":"Genetic compensation triggered by mutant mRNA degradation","volume":"568","author":"El-Brolosy","year":"2019","journal-title":"Nature"},{"key":"2023091911314905700_ref40","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/s41586-019-1057-y","article-title":"PTC-bearing mRNA elicits a genetic compensation response via Upf3a and COMPASS components","volume":"568","author":"Ma","year":"2019","journal-title":"Nature"},{"key":"2023091911314905700_ref41","doi-asserted-by":"crossref","first-page":"3203","DOI":"10.1242\/jcs.175950","article-title":"Role of the ECM in notochord formation, function and disease","volume":"130","author":"Trapani","year":"2017","journal-title":"J. Cell Sci."},{"key":"2023091911314905700_ref42","doi-asserted-by":"crossref","first-page":"10370","DOI":"10.1074\/jbc.275.14.10370","article-title":"Collagen XI nucleates self-assembly and limits lateral growth of cartilage fibrils *","volume":"275","author":"Blaschke","year":"2000","journal-title":"J. Biol. Chem."},{"key":"2023091911314905700_ref43","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1016\/j.joca.2003.12.002","article-title":"A type XI collagen mutation leads to increased degradation of type II collagen in articular cartilage11","volume":"12","author":"Rodriguez","year":"2004","journal-title":"Osteoarthr. Cartil."},{"key":"2023091911314905700_ref44","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s12861-016-0102-4","article-title":"Revisiting in vivo staining with alizarin red S - a valuable approach to analyse zebrafish skeletal mineralization during development and regeneration","volume":"16","author":"Bensimon-Brito","year":"2016","journal-title":"BMC Dev. Biol."},{"key":"2023091911314905700_ref45","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1006\/dbio.2001.0390","article-title":"Visualizing normal and defective bone development in zebrafish embryos using the fluorescent chromophore calcein","volume":"238","author":"Du","year":"2001","journal-title":"Dev. Biol."},{"key":"2023091911314905700_ref46","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1002\/dvdy.22113","article-title":"Normal table of postembryonic zebrafish development: staging by externally visible anatomy of the living fish","volume":"238","author":"Parichy","year":"2009","journal-title":"Dev. Dyn."},{"key":"2023091911314905700_ref47","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1016\/j.cub.2017.05.035","article-title":"Sheath cell invasion and trans-differentiation repair mechanical damage caused by loss of Caveolae in the zebrafish notochord","volume":"27","author":"Garcia","year":"2017","journal-title":"Curr. Biol."},{"key":"2023091911314905700_ref48","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/j.devcel.2012.03.006","article-title":"Regeneration of amputated zebrafish fin rays from de novo osteoblasts","volume":"22","author":"Singh","year":"2012","journal-title":"Dev. Cell"},{"key":"2023091911314905700_ref49","doi-asserted-by":"crossref","first-page":"4977","DOI":"10.1038\/s41467-018-07451-z","article-title":"Heart enhancers with deeply conserved regulatory activity are established early in zebrafish development","volume":"9","author":"Yuan","year":"2018","journal-title":"Nat. Commun."},{"key":"2023091911314905700_ref50","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.ydbio.2011.06.020","article-title":"Identification of an evolutionarily conserved regulatory element of the zebrafish col2a1a gene","volume":"357","author":"Dale","year":"2011","journal-title":"Dev. Biol."},{"key":"2023091911314905700_ref51","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1111\/joa.12067","article-title":"Mineralization of the vertebral bodies in Atlantic salmon (Salmo salar L.) is initiated segmentally in the form of hydroxyapatite crystal accretions in the notochord sheath","volume":"223","author":"Wang","year":"2013","journal-title":"J. Anat."},{"key":"2023091911314905700_ref52","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1111\/j.1525-142X.2011.00526.x","article-title":"Vestiges, rudiments and fusion events: the zebrafish caudal fin endoskeleton in an evo-devo perspective","volume":"14","author":"Bensimon-Brito","year":"2012","journal-title":"Evol. Dev."},{"key":"2023091911314905700_ref53","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.arr.2016.04.011","article-title":"Preserving the longevity of long-lived type II collagen and its implication for cartilage therapeutics","volume":"28","author":"Tiku","year":"2016","journal-title":"Ageing Res. Rev."},{"key":"2023091911314905700_ref54","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3109\/07853890109002055","article-title":"Collagens and collagen-related diseases","volume":"33","author":"Myllyharju","year":"2001","journal-title":"Ann. Med."},{"key":"2023091911314905700_ref55","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/S0945-053X(98)90010-5","article-title":"Molecular recognition in procollagen chain assembly","volume":"16","author":"McLaughlin","year":"1998","journal-title":"Matrix Biol."},{"key":"2023091911314905700_ref56","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1101\/gr.6.3.226","article-title":"The human homolog T of the mouse T (Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27","volume":"6","author":"Edwards","year":"1996","journal-title":"Genome Res."},{"key":"2023091911314905700_ref57","first-page":"208","article-title":"A genetic study of the human T gene and its exclusion as a major candidate gene for sacral agenesis with anorectal atresia","volume":"36","author":"Papapetrou","year":"1999","journal-title":"J. Med. Genet."},{"key":"2023091911314905700_ref58","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0008481","article-title":"Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth","volume":"4","author":"Christiansen","year":"2009","journal-title":"PLoS One"},{"key":"2023091911314905700_ref59","doi-asserted-by":"crossref","first-page":"3646","DOI":"10.1038\/s41598-018-21776-1","article-title":"Increased mechanical loading through controlled swimming exercise induces bone formation and mineralization in adult zebrafish","volume":"8","author":"Suniaga","year":"2018","journal-title":"Sci. Rep."},{"key":"2023091911314905700_ref60","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat. Genet."},{"key":"2023091911314905700_ref61","doi-asserted-by":"crossref","first-page":"11.10.1-11.10.33","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From fastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"2023091911314905700_ref62","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/humu.22769","article-title":"New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. 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