Perlecan mutations in mice and humans: Critical role of perlecan in skeletal development and disease

Acta Myologica

Volumn 20, Issue SEPT., 2001, Pages 134-137

  Arikawa Hirasawa, E ^a   Yamada, V ^a  

^a JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Dyssegmental dysplasia; Perlecan; Schwartz Jampel syndrome (SJS); Silverman Handmaker type (DDSH)

Indexed keywords

PERLECAN;

BONE DEVELOPMENT; CARTILAGE MATRIX; CELL INCLUSION; CHONDRODYSPLASIA; CONFERENCE PAPER; GENE MUTATION; HUMAN; KNOCKOUT MOUSE; MICROMELIA; MOUSE; NEUROMUSCULAR FUNCTION; NONHUMAN; SCHWARTZ JAMPEL SYNDROME;

EID: 0035678912     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (13)

1. Primary structure of the human heparan sulfate proteoglycan from basement membrane (HSPG2/perlecan). A chimeric molecule with multiple domains homologous to the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor
2. The biology of perlecan: The multifaceted heparan sulphate proteoglycan of basement membranes and pericellular matrices
3. Perlecan is essential for cartilage and cephalic development
4. Perlecan maintains the integrity of cartilage and some basement membranes
5. Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3
6. Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity
7. Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene
8. The relationship between perlecan and dystroglycan and its implication in the formation of the neuromuscular junction
9. Cell autonomous expression of perlecan and plasticity of cell shape in embryonic muscle of Caenorhabditis elegans
10. The UNC-112 gene in Caenorhabditis elegans encodes a novel component of cell-matrix adhesion structures required for integrin localization in the muscle cell membrane
11. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
12. Continuous muscle fiber activity in the Schwartz-Jampel syndrome
13. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease