Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia - Test2 - elhamkhani - TriplyDB

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

http://www.wikidata.org/entity/Q24563749

about

Ribozyme-mediated perlecan knockdown impairs chondrogenic differentiation of C3H10T1/2 fibroblasts.Developmental and pathogenic mechanisms of basement membrane assembly Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report The role of perlecan and endorepellin in the control of tumor angiogenesis and endothelial cell autophagy A current view of perlecan in physiology and pathology: A mosaic of functions.The Drosophila Perlecan gene trol regulates multiple signaling pathways in different developmental contexts.Extracellular matrix molecules: potential targets in pharmacotherapy.Perlecan deficiency causes muscle hypertrophy, a decrease in myostatin expression, and changes in muscle fiber composition.Perlecan maintains microvessel integrity in vivo and modulates their formation in vitro Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.Perlecan and tumor angiogenesis.Perlecan modulates VEGF signaling and is essential for vascularization in endochondral bone formation.Influenza H3N2 infection of the collaborative cross founder strains reveals highly divergent host responses and identifies a unique phenotype in CAST/EiJ mice.When sugars guide axons: insights from heparan sulphate proteoglycan mutants.An introduction to proteoglycans and their localization Endostatin and endorepellin: A common route of action for similar angiostatic cancer avengers Border patrol: insights into the unique role of perlecan/heparan sulfate proteoglycan 2 at cell and tissue borders Perlecan is required for FGF-2 signaling in the neural stem cell niche Perlecan-containing pericellular matrix regulates solute transport and mechanosensing within the osteocyte lacunar-canalicular system.Basement membrane components are key players in specialized extracellular matrices.Positive muscle phenomena--diagnosis, pathogenesis and associated disorders.Schwartz-Jampel syndrome: a review of the literature and case report.Synaptic basal lamina-associated congenital myasthenic syndromes.Meninges: from protective membrane to stem cell niche.The nature and biology of basement membranes.Perlecan deficiency causes endothelial dysfunction by reducing the expression of endothelial nitric oxide synthase.Perlecan: an important component of the cartilage pericellular matrix.Perlecan, the multidomain heparan sulfate proteoglycan of basement membranes, is also a prominent component of the cartilaginous primordia in the developing human fetal spine.A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.Botulinum toxin type A in the treatment of facial myotonia in Schwartz-Jampel syndrome.Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.Investigation of the Gene in Tardive Dyskinesia - New Data and Meta-Analysis

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Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia

http://www.wikidata.org/entity/Q24563749

description

2002 nî lūn-bûn

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2002 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2002年の論文

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Structural and functional muta ...... myopathy and chondrodysplasia

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Structural and functional muta ...... myopathy and chondrodysplasia

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Structural and functional muta ...... myopathy and chondrodysplasia

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Structural and functional muta ...... myopathy and chondrodysplasia

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Structural and functional muta ...... myopathy and chondrodysplasia

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American Journal of Human Genetics

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Structural and functional muta ...... myopathy and chondrodysplasia

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Alexander H Le

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Eri Arikawa-Hirasawa

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Ikuya Nonaka

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John R Hassell

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Joseph M Devaney

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Jürgen Spranger

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Marinos C Dalakas

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Nicola C Ho

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Prasanthi Govindraj

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Roger E Stevenson

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P2860

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

Perlecan maintains the integrity of cartilage and some basement membranes

Expression of the heparan sulfate proteoglycan, perlecan, during mouse embryogenesis and perlecan chondrogenic activity in vitro

Perlecan is essential for cartilage and cephalic development

Perlecan: a gem of a proteoglycan

The C-terminal domain V of perlecan promotes beta1 integrin-mediated cell adhesion, binds heparin, nidogen and fibulin-2 and can be modified by glycosaminoglycans

Molecular and cellular biology of cholinesterases

Perlecan is a component of cartilage matrix and promotes chondrocyte attachment

Absence of acetylcholinesterase at the neuromuscular junctions of perlecan-null mice

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1368-75

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10.1086/340390

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5

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70

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Clair A. Francomano

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2002-05-01T00:00:00Z

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11424020

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11941538

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447613

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