Associated Papers
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
Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M).
Das L et al.
Bone Reports, 2020
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
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
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
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
Cotterill SL et al.
Human Mutation, 2005
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
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