Results 31 to 40 of about 16,351 (268)
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review [PDF]
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. This disease is caused by biallelic loss of function mutations in the HSPG2 gene, which encodes the core protein of ...
Iman Elahi Vahed+7 more
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Life without Perlecan Has Its Problems [PDF]
Perlecan is a large heparan sulfate proteoglycan with a wide tissue distribution and multiple potential functions (see [Iozzo 1998][1]). The glycosaminoglycan chains, located in the NH2-terminal domain of the core protein, bind basic FGF-2 and have been shown to promote the mitogenic and ...
Bjørn R. Olsen
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Developmental expression of perlecan during murine embryogenesis [PDF]
Perlecan is a modular heparan sulfate proteoglycan that is an intrinsic constituent of all basement membranes and extracellular matrices. Because of its strategic position and unique structure, perlecan has been implicated in modulating the activity of various growth factors required for normal development and tissue homeostasis.
Melissa Handler+2 more
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The Fbn1 gene variant governs passive ascending aortic mechanics in the mgΔlpn mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency [PDF]
IntroductionAscending thoracic aortic aneurysms arise from pathological tissue remodeling that leads to abnormal wall dilation and increases the risk of fatal dissection/rupture. Large variability in disease manifestations across family members who carry
Samar A. Tarraf+4 more
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Strategies to promote rapid formation of functional endothelium are required to maintain blood fluidity and regulate smooth muscle cell proliferation in synthetic vascular conduits.
K. Lau+7 more
semanticscholar +1 more source
Vascular endothelial cell growth is essential for the repair of intimal injury. Perlecan, a large heparan sulfate proteoglycan, intensifies fibroblast growth factor-2 (FGF-2) signaling as a co-receptor for FGF-2 and its receptor, and promotes the ...
Takato Hara+7 more
semanticscholar +1 more source
Proteoglycans form a heterogeneous family of proteins with covalently bound sulfated glycosaminoglycans. The extracellular matrix proteoglycan perlecan has been proposed to bind to the platelet- and megakaryocyte-specific receptor G6bB, co-regulating ...
Isabella Provenzale+5 more
semanticscholar +1 more source
Novel interactions of perlecan: Unraveling perlecan's role in angiogenesis [PDF]
AbstractPerlecan, a highly conserved and ubiquitous basement membrane heparan sulfate proteoglycan, is essential for life, inasmuch as its absence results in embryonic lethality in mice and C. elegans, and neonatal lethality in humans. Perlecan plays an essential role in vasculogenesis and chondrogenesis, as well as in pathological states where these ...
Gregory J. Bix, Renato V. Iozzo
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Perlecan and Tumor Angiogenesis [PDF]
Perlecan is a major heparan sulfate proteoglycan (HSPG) of basement membranes (BMs) and connective tissues. The core protein of perlecan is divided into five domains based on sequence homology to other known proteins. Commonly, the N-terminal domain I of mammalian perlecan is substituted with three HS chains that can bind a number of matrix molecules,
Jiang, Xinnong, Couchman, John R
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Perlecan is critical for heart stability [PDF]
Perlecan is a heparansulfate proteoglycan found in basement membranes, cartilage, and several mesenchymal tissues that form during development, tumour growth, and tissue repair. Loss-of-function mutations in the perlecan gene in mice are associated with embryonic lethality caused primarily by cardiac abnormalities probably due to hemopericards. The aim
Yun Fan+17 more
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