Results 111 to 120 of about 21,236,271 (159)
P1148A in fibrillin-1 is not a mutation anymore [PDF]
Nature Genetics, 1997 M, Wang +7 more
openaire +2 more sources
Multi-exon deletions of the
BMC Medical Genetics, 2001 Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a ...
Schrijver Iris +4 more
doaj +1 more source
The Biomechanics of Fibrillin Microfibrils: Lessons from the Ciliary Zonule
CellsMarfan syndrome is an inherited connective tissue disorder that affects the cardiovascular, musculoskeletal, and ocular systems. It is caused by pathogenic variants in the fibrillin-1 gene (FBN1).
Pooja Rathaur +6 more
doaj +1 more source
, 2000 Fibrillin-1 is a large extracellular glycoprotein which is a major structural component of 10-12 nm microfibrils. Defects in human fibrillin-1 give rise to the autosomal dominant connective tissue disease the Marfan syndrome and related disorders ...
Kettle, S +5 more
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Zdravniški Vestnik, 2005 Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix.
Galina Pungerčič
doaj
, 2004 INTRODUCTION: It has been suggested that the elastic network plays an important role in the tissue response to mechanical stress. The components of the elastic network have been poorly studied in liver diseases.
Desmouliere, Alexis +9 more
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Exploring thoracic aorta ECM alterations in Marfan syndrome: insights into aorta wall structure
Scientific ReportsMarfan syndrome is a connective tissue disorder caused by FBN1 mutations, leading to aortic wall fragility and increased susceptibility to aneurysm and dissection. This study investigated microstructural and molecular alterations in the thoracic aorta of
Rodrigo Barbosa de Souza +15 more
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, 2002 Elastic fibers are composed of the protein elastin and a network of 10-12 nm microfibrils. The microfibrillar proteins include, among others, the fibrillins and microfibril-associated glycoproteins-1 and -2 (MAGP-1 and MAGP-2).
Kielty, Cay M. +3 more
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Biochemical analyses of interactions among ADAMTSL proteins, fibrillin-1, and ADAMTS-10.
, 2012 (a) SPR sensorgrams showing binding of different concentrations of soluble ligands to the N-terminal half of fibrillin-1 (rF90), coupled onto a chip. Full-length ADAMTSL-2 (320-0 nM) interacts with rF90, as does the C-terminal end of ADAMTSL-3 (80-0 nM).
Susan J. Hayflick (189266) +14 more
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Marfan syndrome: insights from animal models
Frontiers in GeneticsMarfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome.
Yuanyuan Jiang +3 more
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