{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T03:55:39Z","timestamp":1777521339608,"version":"3.51.4"},"reference-count":64,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"vor","delay-in-days":459,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,10,26]],"date-time":"2024-10-26T00:00:00Z","timestamp":1729900800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half-sibling calves from consanguineous mating with congenital skeletal malformations and cardiac abnormalities were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Hypothesis\/Objectives<\/jats:title>\n                    <jats:p>To characterize the disease phenotype, to evaluate its genetic cause, and to determine the prevalence of the deleterious alleles in the Chianina population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Animals<\/jats:title>\n                    <jats:p>Two affected calves, their parents and 332 Chianina bulls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The affected animals underwent clinicopathological investigation. Whole-genome sequencing trio-approach and PCR-based assessment of the frequency of TDP-glucose 4,6-dehydratase (TGDS) and laminin subunit alpha 4 (LAMA4) alleles were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The cases presented with retarded growth, poor nutritional status associated with muscular atrophy and angular deformities of the hindlimbs. Radiologic examination identified generalized osteopenia and shortening of the limb long bones. Necropsy showed osteochondrodysplastic limbs and dilatation of the heart right ventricle. On histological examination, the physeal cartilages were characterized by multifocal mild to moderate loss of the normal columnar arrangement of chondrocytes. Osteopenia also was observed. Genetic analysis identified a missense variant in TGDS and a splice-site variant in LAMA4, both of which were homozygous in the 2 cases. Parents were heterozygous and allele frequency in the Chianina population for the TGDS variant was 5% and for the LAMA4 variant was 2%.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions and Clinical Importance<\/jats:title>\n                    <jats:p>Genetic findings identified 2 potentially pathogenic alleles in TGDS and LAMA4, but no clear mode of inheritance could be determined.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jvim.17221","type":"journal-article","created":{"date-parts":[[2024,10,26]],"date-time":"2024-10-26T13:04:03Z","timestamp":1729947843000},"page":"3346-3357","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle"],"prefix":"10.1093","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6438-7975","authenticated-orcid":false,"given":"Joana G. P.","family":"Jacinto","sequence":"first","affiliation":[{"name":"University of Bologna Department of Veterinary Medical Sciences, , Bologna,","place":["Italy"]},{"name":"Vetsuisse Faculty, University of Bern Institute of Genetics, Department of Clinical Research and Veterinary Public Health, , Bern,","place":["Switzerland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3976-6391","authenticated-orcid":false,"given":"Tolulope G.","family":"Ogundipe","sequence":"additional","affiliation":[{"name":"University of Bologna Department of Veterinary Medical Sciences, , Bologna,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1726-0442","authenticated-orcid":false,"given":"Cinzia","family":"Benazzi","sequence":"additional","affiliation":[{"name":"University of Bologna Department of Veterinary Medical Sciences, , Bologna,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5648-963X","authenticated-orcid":false,"given":"Irene M.","family":"H\u00e4fliger","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty, University of Bern Institute of Genetics, Department of Clinical Research and Veterinary Public Health, , Bern,","place":["Switzerland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4653-0624","authenticated-orcid":false,"given":"Luisa V.","family":"Muscatello","sequence":"additional","affiliation":[{"name":"University of Bologna Department of Veterinary Medical Sciences, , Bologna,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0605-3344","authenticated-orcid":false,"given":"Marilena","family":"Bolcato","sequence":"additional","affiliation":[{"name":"University of Bologna Department of Veterinary Medical Sciences, , Bologna,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4997-2340","authenticated-orcid":false,"given":"Riccardo","family":"Rinnovati","sequence":"additional","affiliation":[{"name":"University of Bologna Department of Veterinary Medical Sciences, , Bologna,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6091-8978","authenticated-orcid":false,"given":"Arcangelo","family":"Gentile","sequence":"additional","affiliation":[{"name":"University of Bologna Department of Veterinary Medical Sciences, , Bologna,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9773-522X","authenticated-orcid":false,"given":"Cord","family":"Dr\u00f6gem\u00fcller","sequence":"additional","affiliation":[{"name":"Vetsuisse Faculty, University of Bern Institute of Genetics, Department of Clinical Research and Veterinary Public Health, , Bern,","place":["Switzerland"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,11,1]]},"reference":[{"issue":"6","key":"2026020304134837900_jvim17221-bib-0001","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.clp.2015.03.003","article-title":"Skeletal dysplasias","volume":"42","author":"Krakow","year":"2015","journal-title":"Clin Perinatol"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0002","first-page":"1","article-title":"A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle","volume":"62","author":"Jacinto","year":"2020","journal-title":"Acta Vet Scand"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0003","first-page":"1","article-title":"Lethal chondrodysplasia in a family of Holstein cattle is associated with a de novo splice site variant of COL2A1","volume":"12","author":"Agerholm","year":"2016","journal-title":"BMC Vet Res"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0004","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1111\/age.13033","article-title":"A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis","volume":"52","author":"Jacinto","year":"2021","journal-title":"Anim Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0005","first-page":"1","article-title":"Rapid discovery of de novo deleterious mutations in cattle enhances the value of livestock as model species","volume":"7","author":"Bourneuf","year":"2017","journal-title":"Sci Rep"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0006","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/age.12934","article-title":"De novo stop-lost germline mutation in FGFR3 causes severe chondrodysplasia in the progeny of a Holstein bull","volume":"51","author":"H\u00e4fliger","year":"2020","journal-title":"Anim Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0007","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1534\/genetics.114.169680","article-title":"The mammalian cervical vertebrae blueprint depends on the T (brachyury) gene","volume":"199","author":"Kromik","year":"2015","journal-title":"Genetics"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0008","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12864-020-07350-y","article-title":"De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf","volume":"22","author":"Braun","year":"2021","journal-title":"BMC Genomics"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0009","doi-asserted-by":"crossref","first-page":"561","DOI":"10.3390\/ani11020561","article-title":"A de novo mutation in COL1A1 in a Holstein calf with osteogenesis imperfecta type II","volume":"11","author":"Jacinto","year":"2021","journal-title":"Animals"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0010","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s00335-019-09794-4","article-title":"Evidence for a de novo, dominant germ-line mutation causative of osteogenesis imperfecta in two red Angus calves","volume":"30","author":"Petersen","year":"2019","journal-title":"Mamm Genome"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0011","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/j.1365-2052.2011.02209.x","article-title":"Identification of an FBN1 mutation in bovine Marfan syndrome-like disease","volume":"43","author":"Hirano","year":"2012","journal-title":"Anim Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0012","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.3390\/ani11071931","article-title":"A heterozygous missense variant in MAP2K2 in a stillborn romagnola calf with skeletal-cardio-enteric dysplasia","volume":"11","author":"Jacinto","year":"2021","journal-title":"Animals"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0013","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1111\/j.1365-2052.2010.02167.x","article-title":"SNP-based association mapping of Arachnomelia in Fleckvieh cattle","volume":"42","author":"Seichter","year":"2011","journal-title":"Anim Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0014","article-title":"Identification of the bovine arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development","volume":"6","author":"Dr\u00f6gem\u00fcller","year":"2010","journal-title":"PLoS Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0015","article-title":"A deletion in the bovine FANCI gene compromises fertility by causing fetal death and brachyspina","volume":"7","author":"Charlier","year":"2012","journal-title":"PLoS One"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0016","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1101\/gr.3690506","article-title":"A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation","volume":"16","author":"Thomsen","year":"2006","journal-title":"Genome Res"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0017","article-title":"Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndrome","volume":"8","author":"Hirano","year":"2013","journal-title":"PLoS One"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0018","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1186\/1471-2164-11-337","article-title":"A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in red Angus cattle","volume":"11","author":"Meyers","year":"2010","journal-title":"BMC Genomics"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0019","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1111\/jvim.15789","article-title":"KDM2B-associated paunch calf syndrome in Marchigiana cattle","volume":"34","author":"Murgiano","year":"2020","journal-title":"J Vet Intern Med"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0020","first-page":"1","article-title":"KDM2B is implicated in bovine lethal multi-organic developmental dysplasia","volume":"7","author":"Testoni","year":"2012","journal-title":"PLoS One"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0021","first-page":"1","article-title":"Conservation status and historical relatedness of Italian cattle breeds","volume":"50","author":"Mastrangelo","year":"2018","journal-title":"Genet Sel Evol"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0022","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/j.ygeno.2008.07.014","article-title":"Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease","volume":"92","author":"Dr\u00f6gem\u00fcller","year":"2008","journal-title":"Genomics"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0023","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1038\/ng.96","article-title":"Highly effective SNP-based association mapping and management of recessive defects in livestock","volume":"40","author":"Charlier","year":"2008","journal-title":"Nat Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0024","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1007\/s00438-021-01824-8","article-title":"A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle","volume":"296","author":"Jacinto","year":"2021","journal-title":"Mol Genet Genomics"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0025","first-page":"1","article-title":"De novo assembly of the cattle reference genome with single-molecule sequencing","volume":"9","author":"Rosen","year":"2020","journal-title":"Gigascience"},{"key":"2026020304134837900_jvim17221-bib-0026","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1146\/annurev-animal-020518-115024","article-title":"1000 bull genomes project to map simple and complex genetic traits in cattle: applications and outcomes","volume":"7","author":"Hayes","year":"2019","journal-title":"Annu Rev Anim Biosci"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0027","doi-asserted-by":"crossref","first-page":"i884","DOI":"10.1093\/bioinformatics\/bty560","article-title":"Fastp: An ultra-fast all-in-one FASTQ preprocessor","volume":"34","author":"Chen","year":"2018","journal-title":"Bioinformatics"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0028","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1111\/age.12923","article-title":"Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome","volume":"51","author":"H\u00e4fliger","year":"2020","journal-title":"Anim Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0029","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0030","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1158\/0008-5472.CAN-17-0337","article-title":"Variant review with the Integrative Genomics Viewer","volume":"77","author":"Robinson","year":"2017","journal-title":"Cancer Res"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0031","first-page":"7","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"2026020304134837900_jvim17221-bib-0032","article-title":"DetectRUNS: an R package to detect runs of homozygosity and heterozygosity in diploid genomes. CRAN (the Comprehensive R Archive Network)","author":"Biscarini","year":"2019"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0033","first-page":"1","article-title":"PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations","volume":"10","author":"Bendl","year":"2014","journal-title":"PLoS Comput Biol"},{"key":"2026020304134837900_jvim17221-bib-0034","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"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0035","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res"},{"key":"2026020304134837900_jvim17221-bib-0036","article-title":"MutPred2: inferring the molecular and phenotypic impact of amino acid variants","volume":"11","author":"Pejaver","year":"2017","journal-title":"Nat Comm"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0037","doi-asserted-by":"crossref","first-page":"W214","DOI":"10.1093\/nar\/gkq537","article-title":"The GeneMANIA prediction server: biological network integration for gene prioritization and predicting gene function","volume":"38","author":"Warde-Farley","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"2026020304134837900_jvim17221-bib-0038","doi-asserted-by":"crossref","DOI":"10.1016\/j.tvjl.2024.106069","article-title":"Multiple independent de novo mutations are associated with the development of schistosoma reflexum, a lethal syndrome in cattle","volume":"304","author":"Jacinto","year":"2024","journal-title":"Vet J"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0039","first-page":"D523","article-title":"UniProt: the universal protein knowledgebase in 2023","volume":"51","author":"Bateman","year":"2023","journal-title":"Nucleic Acids Res"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0040","doi-asserted-by":"crossref","first-page":"D418","DOI":"10.1093\/nar\/gkac993","article-title":"InterPro in 2022","volume":"51","author":"Paysan-Lafosse","year":"2023","journal-title":"Nucleic Acids Res"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0041","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0969-2126(01)00694-3","article-title":"Toward a structural understanding of the dehydratase mechanism","volume":"10","author":"Allard","year":"2002","journal-title":"Structure"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0042","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.cbi.2008.10.040","article-title":"The SDR (short-chain dehydrogenase\/reductase and related enzymes) nomenclature initiative","volume":"178","author":"Persson","year":"2009","journal-title":"Chem Biol Interact"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0043","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.ajhg.2014.11.004","article-title":"Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome","volume":"95","author":"Ehmke","year":"2014","journal-title":"Am J Hum Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0044","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1002\/ajmg.a.38209","article-title":"Mutations in TGDS associated with additional malformations of the middle fingers and halluces: atypical Catel\u2013Manzke syndrome in a fetus","volume":"173","author":"Schoner","year":"2017","journal-title":"Am J Med Genet A"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0045","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1111\/j.1574-6976.2012.00340.x","article-title":"Human pathogens utilize host extracellular matrix proteins laminin and collagen for adhesion and invasion of the host","volume":"36","author":"Singh","year":"2012","journal-title":"FEMS Microbiol Rev"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0046","doi-asserted-by":"crossref","first-page":"48","DOI":"10.4161\/cam.22826","article-title":"The laminin family","volume":"7","author":"Aumailley","year":"2013","journal-title":"Cell Adh Migr"},{"key":"2026020304134837900_jvim17221-bib-0047","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1097\/IJG.0000000000000108","article-title":"Biology of the extracellular matrix","volume":"23","author":"Yue","year":"2014","journal-title":"J Glaucoma"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0048","doi-asserted-by":"crossref","first-page":"101","DOI":"10.4161\/cam.22680","article-title":"Laminin isoforms in endothelial and perivascular basement membranes","volume":"7","author":"Yousif","year":"2013","journal-title":"Cell Adh Migr"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0049","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1161\/CIRCULATIONAHA.107.689984","article-title":"Laminin-\u03b14 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in Cardiomyocytes and endothelial cells","volume":"116","author":"Kn\u00f6ll","year":"2007","journal-title":"Circulation"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0050","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1080\/03008207.2020.1761344","article-title":"Comparison of the efficiency of laminin versus fibronectin as a differential adhesion assay for isolation of human articular cartilage derived chondroprogenitors","volume":"62","author":"Vinod","year":"2021","journal-title":"Connect Tissue Res"},{"key":"2026020304134837900_jvim17221-bib-0051","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.matbio.2014.08.009","article-title":"The structure and function of the pericellular matrix of articular cartilage","volume":"39","author":"Wilusz","year":"2014","journal-title":"Matrix Biol"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0052","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/jcp.20656","article-title":"Wnt induction of chondrocyte hypertrophy through the Runx2 transcription factor","volume":"208","author":"Dong","year":"2006","journal-title":"J Cell Physiol"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0053","doi-asserted-by":"crossref","first-page":"3039","DOI":"10.1242\/dev.02471","article-title":"Wnt9a signaling is required for joint integrity and regulation of Ihh during chondrogenesis","volume":"133","author":"Sp\u00e4ter","year":"2006","journal-title":"Development"},{"key":"2026020304134837900_jvim17221-bib-0054","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.biopha.2018.04.185","article-title":"FAK and BMP-9 synergistically trigger osteogenic differentiation and bone formation of adipose derived stem cells through enhancing Wnt-\u03b2-catenin signaling","volume":"105","author":"Yuan","year":"2018","journal-title":"Biomed Pharmacother"},{"key":"2026020304134837900_jvim17221-bib-0055","first-page":"12","article-title":"Integrin-mediated tumorigenesis and its therapeutic applications","volume":"11","author":"Li","year":"2022","journal-title":"Front Oncol"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0056","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1016\/j.apsb.2022.09.020","article-title":"Roles of focal adhesion proteins in skeleton and diseases","volume":"13","author":"Chen","year":"2023","journal-title":"Acta Pharm Sin B"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0057","doi-asserted-by":"crossref","first-page":"1946","DOI":"10.1016\/j.ajhg.2021.08.010","article-title":"Identifying digenic disease genes via machine learning in the undiagnosed diseases network","volume":"108","author":"Mukherjee","year":"2021","journal-title":"Am J Hum Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0058","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1038\/ng.2479","article-title":"Digenic inheritance and Mendelian disease","volume":"44","author":"Lupski","year":"2012","journal-title":"Nat Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0059","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s12711-016-0199-8","article-title":"Epistatic interactions between at least three loci determine the \u201crat-tail\u201d phenotype in cattle","volume":"48","author":"Knaust","year":"2016","journal-title":"Genet Sel Evol"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0060","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/j.ejmg.2017.06.008","article-title":"Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy","volume":"60","author":"Petropoulou","year":"2017","journal-title":"Eur J Med Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0061","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1111\/cge.14398","article-title":"Mutation profile of Bardet-Biedl syndrome patients from India: implicative role of multiallelic rare variants and oligogenic inheritance pattern","volume":"104","author":"Gnanasekaran","year":"2023","journal-title":"Clin Genet"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0062","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1086\/368204","article-title":"Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2","volume":"72","author":"Badano","year":"2003","journal-title":"Am J Hum Genet"},{"key":"2026020304134837900_jvim17221-bib-0063","doi-asserted-by":"crossref","first-page":"115","DOI":"10.2147\/TCRM.S338653","article-title":"Bardet-Biedl syndrome: current perspectives and clinical outlook","volume":"19","author":"Melluso","year":"2023","journal-title":"Ther Clin Risk Manag"},{"issue":"6","key":"2026020304134837900_jvim17221-bib-0064","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1111\/cge.13190","article-title":"Clinical sequencing: from raw data to diagnosis with lifetime value","volume":"93","author":"Caspar","year":"2018","journal-title":"Clin Genet"}],"container-title":["Journal of Veterinary Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jvim\/article-pdf\/38\/6\/3346\/66663428\/jvim17221.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jvim\/article-pdf\/38\/6\/3346\/66663428\/jvim17221.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T09:14:23Z","timestamp":1770110063000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jvim\/article\/38\/6\/3346\/8448713"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,1]]},"references-count":64,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,11,1]]}},"URL":"https:\/\/doi.org\/10.1111\/jvim.17221","relation":{},"ISSN":["1939-1676"],"issn-type":[{"value":"1939-1676","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,11]]},"published":{"date-parts":[[2024,11,1]]},"assertion":[{"value":"2024-02-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-01","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}