Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

Nature Genetics

Volumn 26, Issue 4, 2000, Pages 480-483

  Nicole, Sophie ^a   Davoine, Claire Sophie ^a   Topaloglu, Haluk ^b   Cattolico, Laurence ^c   Barral, Duarte ^a   Beighton, Peter ^d   Hamida, Christiane Ben ^e   Hammouda, Hadi ^f   Cruaud, Corinne ^g   White, Peter S ^a   Samson, Delphine ^g   Urtizberea, J Andoni ^f   Lehmann Horn, Franck ^h   Weissenbach, Jean ^g   Hentati, Faycal ^e   Fontaine, Bertrand ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HACETTEPE UNIVERSITY   (Turkey)

^c CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

^e Institut National de Neurologie Tunisia   (Tunisia)

^f GÉNÉTHON   (France)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PERLECAN; PROTEOGLYCAN;

ARTICLE; BASEMENT MEMBRANE; CHROMOSOME 1P; ELECTROMYOGRAM; GENE LOCUS; GENE MUTATION; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHWARTZ JAMPEL SYNDROME;

EID: 0033662239     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/82638     Document Type: Article

References (27)

1. Schwartz-Jampel syndrome (chondrodystrophic myotonia)
2. Single motor unit activity pattern in patients with Schwartz-Jampel syndrome
3. E.M.G. studies of two family cases of the Schwartz and Jampel syndrome (osteo-chondro-muscular dystrophy with myotonia)
4. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping
5. Recessive Schwartz-Jampel syndrome (SJS): Confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval
6. Matrix proteoglycans: From molecular design to cellular function
7. Isolation of a heparan sulfate-containing proteoglycan from basement membrane
8. Perlecan is a component of cartilage matrix and promotes chondrocyte attachment
9. Perlecan is essential for cartilage and cephalic development
10. Perlecan maintains the integrity of cartilage and some basement membranes
11. 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
12. Structural characterization of the complete human perlecan gene and its promoter
13. RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
14. Perlecan, the large low-density proteoglycan of basement membranes: Structure and variant forms
15. Recombinant domain IV of perlecan binds to nidogens, laminin-nidogen complex, fibronectin, fibulin-2 and heparin
16. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome)
17. Schwartz-Jampel syndrome. Clinical and histopathological study of 4 cases
18. Mutations in the unc-52 gene responsible for body wall muscle defects in adult Caenorhabditis elegans are located in alternatively spliced exons
19. Mammalian tissue distribution of a large heparan sulfate proteoglycan detected by monoclonal antibodies
20. Diseases caused by voltage-gated ion channels
21. Interaction of voltage-gated sodium channels with the extracellular matrix molecules tenascin-C and tenascin-R
22. Tenascin-R is a functional modulator of sodium channel β subunits
23. Acetylcholinesterase clustering at the neuromuscular junction involves perlecan and dystroglycan
24. Repetitive CMAPs: Mechanisms of neural and synaptic genesis
25. Genetic variation of the heparan sulfate proteoglycan gene (perlecan gene). Association with urinary albumin excretion in IDDM patients
26. Human basement membrane heparan sulfate proteoglycan core protein: A 467-kD protein containing multiple domains resembling elements of the low density lipoprotein receptor, laminin, neural cell adhesion molecules, and epidermal growth factor
27. Structural properties of recombinant domain III-3 of perlecan containing a globular domain inserted into an epidermal-growth-factor-like motif