Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
about
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasiaDevelopmental and pathogenic mechanisms of basement membrane assemblyHeparanase expression and activity influences chondrogenic and osteogenic processes during endochondral bone formationArticular cartilage and changes in arthritis: noncollagenous proteins and proteoglycans in the extracellular matrix of cartilageClinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report1p36 deletion syndrome: an updateThe role of perlecan and endorepellin in the control of tumor angiogenesis and endothelial cell autophagyPathophysiology of heparan sulphate: many diseases, few drugsThe leucine-rich repeat protein PRELP binds perlecan and collagens and may function as a basement membrane anchorAdvances in Skeletal Dysplasia GeneticsA current view of perlecan in physiology and pathology: A mosaic of functions.Determining the mechanical properties of human corneal basement membranes with atomic force microscopyProtein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction.Heparan sulfate: lessons from knockout miceThe Drosophila Perlecan gene trol regulates multiple signaling pathways in different developmental contexts.Granulin epithelin precursor: a bone morphogenic protein 2-inducible growth factor that activates Erk1/2 signaling and JunB transcription factor in chondrogenesis.Genetic disorders of the skeleton: a developmental approachNull leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.Perlecan deficiency causes muscle hypertrophy, a decrease in myostatin expression, and changes in muscle fiber composition.Heparan sulfate proteoglycans: intricate molecules with intriguing functions.Perlecan maintains microvessel integrity in vivo and modulates their formation in vitroHeparan sulfate proteoglycans.Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.Progranulin: a promising therapeutic target for rheumatoid arthritis.Perlecan and tumor angiogenesis.A bit of give and take: the relationship between the extracellular matrix and the developing chondrocyteProgranulin: a growth factor, a novel TNFR ligand and a drug targetPerlecan modulates VEGF signaling and is essential for vascularization in endochondral bone formation.Incidental medical information in whole-exome sequencing.New insights into the molecular biology of the glomerular filtration barrier and associated disease.Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.Structure and function of basement membranes.Heparan sulfate proteoglycans: a GAGgle of skeletal-hematopoietic regulators.ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor.A novel locus for episodic ataxia:UBR4 the likely candidate.Perlecan-containing pericellular matrix regulates solute transport and mechanosensing within the osteocyte lacunar-canalicular system.Skeletal dysplasias associated with mild myopathy-a clinical and molecular review.Synaptic basal lamina-associated congenital myasthenic syndromes.Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.The Schwartz-Jampel syndrome: Case report and review of literature.
P2860
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P2860
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
description
2000 nî lūn-bûn
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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name
Perlecan, the major proteoglyc ...... (chondrodystrophic myotonia).
@en
Perlecan, the major proteoglyc ...... (chondrodystrophic myotonia).
@nl
type
label
Perlecan, the major proteoglyc ...... (chondrodystrophic myotonia).
@en
Perlecan, the major proteoglyc ...... (chondrodystrophic myotonia).
@nl
prefLabel
Perlecan, the major proteoglyc ...... (chondrodystrophic myotonia).
@en
Perlecan, the major proteoglyc ...... (chondrodystrophic myotonia).
@nl
P2093
P2860
P356
P1433
P1476
Perlecan, the major proteoglyc ...... (chondrodystrophic myotonia).
@en
P2093
Beighton P
Cattolico L
Davoine CS
Fontaine B
Hammouda H
Lehmann-Horn F
P2860
P2888
P304
P356
10.1038/82638
P407
P577
2000-12-01T00:00:00Z