Results 111 to 120 of about 23,678,950 (225)

New insights into the structural role of EMILINs within the human skin microenvironment

open access: yesScientific Reports
Supramolecular extracellular matrix (ECM) networks play an essential role in skin architecture and function. Elastin microfibril interface-located proteins (EMILINs) comprise a family of three extracellular glycoproteins that serve as essential ...
Alvise Schiavinato   +15 more
doaj   +1 more source

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

open access: yesBMC Pediatrics, 2016
BackgroundMarfan syndrome (MFS) is a heritable disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1). Neonatal Marfan syndrome (nMFS) is rare and the most severe form of MFS, involving rapidly progressive ...
Qian Peng   +3 more
semanticscholar   +1 more source

P1148A in fibrillin-1 is not a mutation anymore [PDF]

open access: yesNature Genetics, 1997
Mei Wang   +7 more
openaire   +3 more sources

Mutations in Calcium-binding Epidermal Growth Factor Modules Render Fibrillin-1 Susceptible to Proteolysis [PDF]

open access: hybrid, 2000
Dieter P. Reinhardt   +5 more
openalex   +1 more source

Fibrillin-1 (FBN-1) a new marker of germ cell neoplasia in situ

open access: yesBMC Cancer, 2016
BackgroundGerm cell neoplasia in situ (GCNIS), is preinvasive stage of testicular germ cell tumours (TGCTs). Fibrillins, which are integral components of microfibrils are suggested to be involved in cancer pathogenesis and maintenance of embryonic stem ...
Z. Cierna   +11 more
semanticscholar   +1 more source

The Biomechanics of Fibrillin Microfibrils: Lessons from the Ciliary Zonule

open access: yesCells
Marfan 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

Anti-Glycation Activities of Phenolic Constituents from Silybum marianum (Milk Thistle) Flower in Vitro and on Human Explants

open access: yesMolecules, 2015
Glycation is an ageing reaction of naturally occurring sugars with dermal proteins, with clinical signs appearing in vivo around age 30, and increasing steadily/regularly with age.
Seoungwoo Shin   +5 more
doaj   +1 more source

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