Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3

समान संसाधन

• Missense mutations in the ß strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
  द्वारा: Jackson, G, और अन्य
  प्रकाशित: (2004)
• 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
  द्वारा: Leighton, Matthew P., और अन्य
  प्रकाशित: (2007)
• Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation
  द्वारा: Bell, Peter A, और अन्य
  प्रकाशित: (2012)
• An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia
  द्वारा: Nundlall, Seema, और अन्य
  प्रकाशित: (2010)
• Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study
  द्वारा: Seo, Sang Gyo, और अन्य
  प्रकाशित: (2014)