Results 181 to 190 of about 7,639 (196)
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2012
Chapter 26 covers disorders of the Perlecan group (dyssegmental dysplasia, Silverman-Handmaker type (MIM 224410), dyssegmental dysplasia, Rolland-Desbuquois type (MIM 224400), Schwartz-Jampel syndrom (MIM 255800)) , including major clinical findings, radiographic features, and differential diagnoses.
Jürgen W. Spranger +4 more
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Chapter 26 covers disorders of the Perlecan group (dyssegmental dysplasia, Silverman-Handmaker type (MIM 224410), dyssegmental dysplasia, Rolland-Desbuquois type (MIM 224400), Schwartz-Jampel syndrom (MIM 255800)) , including major clinical findings, radiographic features, and differential diagnoses.
Jürgen W. Spranger +4 more
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Schwartz-Jampel syndrome and perlecan deficiency.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2006Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by the association of myotonia with chondrodysplasia. A positional cloning strategy allowed the localization and the identification of perlecan as the disease causing gene. Another human recessive disorder, the Dyssegmental Dysplasia, Silverman-Handmaker type (DDSH), is
M, Stum +3 more
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Perlecan: A gem of a proteoglycan
Matrix Biology, 1994Perlecan, the main proteoglycan of basement membranes and pericellular spaces, is one of the largest single-chain polypeptides of vertebrate animals. The five modules of perlecan are collated from protein building blocks evolutionarily related to molecules involved in nutrient metabolism, mitogenesis and adhesion.
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Perlecan is essential for cartilage and cephalic development
Nature Genetics, 1999Perlecan, a large, multi-domain, heparan sulfate proteoglycan originally identified in basement membrane, interacts with extracellular matrix proteins, growth factors and receptors, and influences cellular signalling. Perlecan is present in a variety of basement membranes and in other extracellular matrix structures. We have disrupted the gene encoding
E, Arikawa-Hirasawa +4 more
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Role of perlecan in skeletal development and diseases
Glycoconjugate Journal, 2002Perlecan, a large heparan sulfate proteoglycan (HSPG), is present in the basement membrane and other extracellular matrices. Its protein core is 400 kDa in size and consists of five distinct structural domains. A number of in vitro studies suggest multiple functions of perlecan in cell growth and differentiation and tissue organization.
John, Hassell +2 more
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Perlecan Helps Keep AChE in Place
Science's STKE, 2002Acetylcholinesterase (AChE) is expressed by innervated muscles at the site of motor neuron contact and is required for the termination of acetylcholine-mediated neurotransmission. A particular form of AChE that has a collagen tail is preferentially located at the neuromuscular junction (NMJ), but the mechanism by which it is localized to ...
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Perlecan signaling: Helping hedgehog stimulate prostate cancer growth
The International Journal of Biochemistry & Cell Biology, 2006Perlecan, an extracellular matrix proteoglycan, regulates signaling by a variety of growth factors through protein-protein and protein-carbohydrate interactions. Recent evidence demonstrates that Perlecan modulates sonic hedgehog signaling during both development and neoplasia, in particular in prostate cancer. Perlecan directly binds to sonic hedgehog
Sumana, Datta +2 more
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Focus on Molecules: Perlecan (HSPG2)
Experimental Eye Research, 2006Simone, Smith, John R, Hassell
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2005
Atherosclerosis has become the most common cause of death in the world. The development of the disease involves accumulation of lipids in the inner layer of the vessel wall, the intima, and recruitment of inflammatory cells and smooth muscle cells (SMCs).
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Atherosclerosis has become the most common cause of death in the world. The development of the disease involves accumulation of lipids in the inner layer of the vessel wall, the intima, and recruitment of inflammatory cells and smooth muscle cells (SMCs).
openaire +1 more source