Associated Papers
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
Dennis EP et al.
International Journal of Molecular Sciences, 2025
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.
Cho TJ et al.
European Journal of Medical Genetics, 2024
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.
Kakar N et al.
Clinical Genetics, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.
Kim SJ et al.
Frontiers in Genetics, 2021
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
Das L et al.
Bone Reports, 2020
A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
Ho TT et al.
Bmc Musculoskeletal Disorders, 2020
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Wright CF et al.
Nature Communications, 2019
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Huang Z et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang H et al.
Journal of Human Genetics, 2015
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).
Briggs MD et al.
International Journal of Molecular Medicine, 2015
Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cells.
Jayasuriya CT et al.
International Journal of Molecular Sciences, 2014
Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
Seo SG et al.
Bmc Musculoskeletal Disorders, 2014
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.
Hartley CL et al.
Human Molecular Genetics, 2013
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.
Jackson GC et al.
Human Mutation, 2012
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
Kim OH et al.
American Journal of Medical Genetics. Part A, 2011
A matrilin-3 mutation associated with osteoarthritis does not affect collagen affinity but promotes the formation of wider cartilage collagen fibrils.
Otten C et al.
Human Mutation, 2010
Multiple functions of the von Willebrand Factor A domain in matrilins: secretion, assembly, and proteolysis.
Zhang Y et al.
Journal of Orthopaedic Surgery and Research, 2008
Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.
Fresquet M et al.
Human Mutation, 2008
Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.
Leighton MP et al.
Human Molecular Genetics, 2007
Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand.
Min JL et al.
Annals of the Rheumatic Diseases, 2006
Matrilin-3 mutations that cause chondrodysplasias interfere with protein trafficking while a mutation associated with hand osteoarthritis does not.
Otten C et al.
Journal of Medical Genetics, 2005
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
Mabuchi A et al.
Human Mutation, 2004
Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
Borochowitz ZU et al.
Journal of Medical Genetics, 2004
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
Mäkitie O et al.
American Journal of Medical Genetics. Part A, 2004
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Jackson GC et al.
Journal of Medical Genetics, 2004
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD et al.
Human Mutation, 2002
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
Chapman KL et al.
Nature Genetics, 2001
Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.
Chapman KL et al.
Pediatric Pathology & Molecular Medicine, 0