Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. [PDF]
, 1986 Lynn Y. Sakai +2 more
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Stem Cell Research, 2023 Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein.
Jeffrey Aalders +7 more
doaj
G/A polymorphism in an intron of the fibrillin gene FBNI [PDF]
, 1991 D. Hewett +3 more
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Fibrillin-1 (FBN-1) a new marker of germ cell neoplasia in situ
BMC 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
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. [PDF]
, 1992 Katariina Kainulainen +8 more
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Structural and functional failure of fibrillin‑1 in human diseases (Review).
International Journal of Molecular Medicine, 2017 Fibrillins (FBNs) are key relay molecules that form the backbone of microfibrils in elastic and non‑elastic tissues. Interacting with other components of the extracellular matrix (ECM), these ubiquitous glycoproteins exert pivotal roles in tissue ...
S. Schrenk +4 more
semanticscholar +1 more source
Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia
Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)Background: This paper reports a segmental Stiff Skin Syndrome (SSS) case in a four-year-old girl. SSS is a rare disease characterized by skin hardening and joint stiffness due to a mutation of the fibrillin-1 (FBN-1) gene encoding the fibrillin protein.
Hafidzah Nurmastuti +5 more
doaj +1 more source
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome [PDF]
, 1993 Lygia da Veiga Pereira +6 more
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A Mutant \u3cem\u3edec-1\u3c/em\u3e Transgene Induces Dominant Female Sterility in \u3cem\u3eDrosophila melanogaster\u3c/em\u3e [PDF]
, 2007 The Drosophila dec-1 gene produces three proproteins required for female fertility and eggshell assembly. The three proproteins are distinguished by their C termini.
Spangenberg, Daniel K., Waring, Gail L.
core +1 more source
Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling [PDF]
, 1999 Jane Ashworth +6 more
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