Associated Papers
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
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
The Matrilin-3 T298M mutation predisposes for post-traumatic osteoarthritis in a knock-in mouse model.
Seifer P et al.
Osteoarthritis and Cartilage, 2021
Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans.
Stajkovska A et al.
Frontiers in Genetics, 2018
Association of Matrilin-3 Gene Polymorphism with Temporomandibular Joint Internal Derangement.
Yilmaz AD et al.
Genetic Testing and Molecular Biomarkers, 2016
The matrilins: modulators of extracellular matrix assembly.
Klatt AR et al.
The International Journal of Biochemistry & Cell Biology, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
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
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
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
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