Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen

  title={Abnormal growth plate function in pigs carrying a dominant mutation in type X collagen},
  author={V. Nielsen and C. Bendixen and J. Arnbjerg and C. S{\o}rensen and H. Jensen and N. Shukri and B. Thomsen},
  journal={Mammalian Genome},
  • V. Nielsen, C. Bendixen, +4 authors B. Thomsen
  • Published 2000
  • Biology, Medicine
  • Mammalian Genome
  • Abstract. [...] Key Result Consistent with the clinical phenotype of SMCD patients, radiological and histological examination of the dwarf pigs revealed metaphyseal chondrodysplasia in the long bones. Yeast-based, two-hybrid protein interaction studies and in vitro assembly experiments demonstrated that the amino acid substitution interfered with the ability of the mutated collagen molecules to engage in trimerization. This work establishes that the chondrodysplastic dwarf pigs by genetic, biochemical…Expand Abstract
    26 Citations
    Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology
    • 108
    Current insights into the molecular genetic basis of dwarfism in livestock.
    • 11
    • Highly Influenced
    Early‐onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame‐shift mutation and impaired trimerization of wild‐type α1(X) protein chains
    • O. Mäkitie, M. Susic, W. Cole
    • Biology, Medicine
    • Journal of orthopaedic research : official publication of the Orthopaedic Research Society
    • 2010
    • 13
    X-linked spondylo-epiphyseal dysplasia tarda in the Danish-Swedish farm hound.
    • 1
    Approach to Investigating Congenital Skeletal Abnormalities in Livestock
    • 11
    Identification of binding partners interacting with the α1-N-propeptide of type V collagen.
    • 37
    • PDF


    A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
    • 220
    • Highly Influential
    Site-directed Mutagenesis of Human Type X Collagen
    • 51
    • PDF
    A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
    • 75
    • Highly Influential
    • PDF
    Phenotypic and biochemical consequences of collagen X mutations in mice and humans.
    • D. Chan, O. Jacenko
    • Biology, Medicine
    • Matrix biology : journal of the International Society for Matrix Biology
    • 1998
    • 89
    Interaction of collagen alpha1(X) containing engineered NC1 mutations with normal alpha1(X) in vitro. Implications for the molecular basis of schmid metaphyseal chondrodysplasia.
    • 32
    • Highly Influential
    Folding and Assembly of Type X Collagen Mutants That Cause Metaphyseal Chondrodysplasia-type Schmid
    • 25
    • Highly Influential
    • PDF
    Abnormal Compartmentalization of Cartilage Matrix Components in Mice Lacking Collagen X: Implications for Function
    • 178
    • Highly Influential
    • PDF
    Molecular Genetics of the Human Chondrodysplasias — 1995
    • W. Horton
    • Biology, Medicine
    • European journal of human genetics : EJHG
    • 1995
    • 18