Steven A, Richard M, William S, Michael M. Multiple epiphyseal dysplasia. J Am Acad Orthop Surg. 2015;23:164–72.
Article
Google Scholar
Dasa V, Eastwood J, Podgorski M, Park H, Blackstock C, Antoshchenko T, et al. Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia. Am J Med Genet A. 2019;179:534–41.
Article
CAS
Google Scholar
Kausar M, Mäkitie R, Toiviainen-Salo S, Ignatius J, Anees M, Mäkitie O. Recessive multiple epiphyseal dysplasia - clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. Eur J Med Genet. 2019;62:103573.
Article
Google Scholar
Seo S, Song HR, Kim H, Yoo W, Shim J, Chung C, et al. Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. BMC Musculoskelet Dis. 2014;15:84.
Article
Google Scholar
Anthony S, Munk R, Skakun W, Masini M. Multiple epiphyseal dysplasia. J Am Acad Orthop Surg. 2015;23:164–72.
Article
Google Scholar
Liu FX, Li YX, Zhang XD, Ren CA, Huang SZ, Yu MX. EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia. Chin Med J (Engl). 2013;126:1103–7.
CAS
Google Scholar
Liu HY, Xiao JF, Huang J, Wang Y, Wu D, Li T, et al. Diagnosis with multiple epiphyseal dysplasia using whole-exome sequencing in a chinese family. Chin Med J (Engl). 2017;130:104–7.
Article
Google Scholar
Posey KL, Coustry F, Hecht JT. Cartilage oligomeric matrix protein: COMPopathies and beyond. Matrix Biol. 2018;71–2:161–73.
Article
Google Scholar
Briggs MD, Brock J, Ramsden SC, Bell PA. Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias. Eur J Hum Genet. 2014;22:1278–82.
Article
CAS
Google Scholar
Yang X, Ruan G, Xu J, Zheng S, Wang K, Ding C. Associations between suprapatellar pouch effusion-synovitis, serum cartilage oligomeric matrix protein, high sensitivity C-reaction protein, knee symptom, and joint structural changes in patients with knee osteoarthritis. Clin Rheumatol. 2020. https://doi.org/10.1007/s10067100190490510067.
Cohn DH, Briggs MD, King LM, Rimoin DL, Wilcox WR, Lachman RS, et al. Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Ann N Y Acad Sci. 2010;785:188–94.
Article
Google Scholar
Acharya C, Yik JH, Kishore A, Van Dinh V, Di Cesare PE, Haudenschild DR. Cartilage oligomeric matrix protein and its binding partners in the cartilage extracellular matrix: interaction, regulation and role in chondrogenesis. Matrix Biol. 2014;37:102–11.
Article
CAS
Google Scholar
Wang K, Zhao S, Zhang Q, Yuan J, Liu J, Ding X, et al. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral–basilar artery dissection (IVAD). J Hum Genet. 2018;63:1119–28.
Article
CAS
Google Scholar
Liu J, Zhou Y, Qi X, Chen J, Chen W, Qiu G, et al. CRISPR/Cas9 in zebrafish: an efficient combination for human genetic diseases modeling. Hum Genet. 2017;136:1–12.
Article
Google Scholar
Wang K, Zhao S, Liu B, Zhang Q, Li Y, Liu J, et al. Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM). J Med Genet. 2018;55:675–84.
Article
CAS
Google Scholar
Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, et al. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet. 2003;112:84–90.
Article
CAS
Google Scholar
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat. 2012;33:144–57.
Article
CAS
Google Scholar
Briggs MD, Bell PA, Pirog KA. The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: the emerging role of endoplasmic reticulum stress (review). Int J Mol Med. 2015;35:1483–92.
Article
CAS
Google Scholar
Schulz J, Nüchel J, Niehoff A, Bloch W, Schönborn K, Hayashi S, et al. COMP-assisted collagen secretion--a novel intracellular function required for fibrosis. J Cell Sci. 2016;129:706–16.
Article
CAS
Google Scholar
Wang C, Liu G, Zhang W, Wang W, Ma C, Liu S, et al. Cartilage oligomeric matrix protein improves in vivo cartilage regeneration and compression modulus by enhancing matrix assembly and synthesis. Colloids Surf B Biointerfaces. 2017;159:518–26.
Article
CAS
Google Scholar
Chen FH, Thomas AO, Hecht JT, Goldring MB, Lawler J. Cartilage Oligomeric matrix protein/Thrombospondin 5 supports chondrocyte attachment through interaction with Integrins. J Biol Chem. 2005;280:32655–61.
Article
CAS
Google Scholar
Makitie O, Geiberger S, Horemuzova E, Hagenas L, Mostrom E, Nordenskjold M, et al. SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED). Clin Genet. 2015;87:273–8.
Article
CAS
Google Scholar
Superti-Furga A, Neumann L, Riebel T, Eich G, Steinmann B, Spranger J, et al. Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet. 1999;36:621.
CAS
PubMed
PubMed Central
Google Scholar
Sakamoto Y, Yamamoto T, Kajino Y, Kabata T, Tsuchiya H, Miyake N, et al. Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: a report of a familial case with a COMP mutation. J Orthop Sci. 2017;22:967–71.
Article
Google Scholar