Associated Papers
Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies altered Matrix organisation and upregulation of the cholesterol biosynthesis pathway.
Woods S et al.
Osteoarthritis and Cartilage, 2026
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
Dennis EP et al.
International Journal of Molecular Sciences, 2025
Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.
Sangar M et al.
Calcified Tissue International, 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
Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.
Marchelli G et al.
Journal of Pediatric Orthopedics, 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias.
Pretemer Y et al.
Stem Cell Reports, 2021
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
Dennis EP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 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
MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia.
Shyamasundar LG et al.
Indian Journal of Pediatrics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
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
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
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