Results 121 to 130 of about 10,140 (168)

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis. [PDF]

PLoS One, 2021
Jensen SA, Atwa O, Handford PA.
europepmc   +1 more source

ADAMTSL-6 Is a Novel Extracellular Matrix Protein That Binds to Fibrillin-1 and Promotes Fibrillin-1 Fibril Formation

ADAMTSL-6 Is a Novel Extracellular Matrix Protein That Binds to Fibrillin-1 and Promotes Fibrillin-1 Fibril Formation
This research was originally published in the Journal of Biological Chemistry. Ko Tsutsui, Ri-ichiroh Manabe, Tomiko Yamada, Itsuko Nakano, Yasuko Oguri, Douglas R. Keene, Gerhard Sengle, Lynn Y. Sakai and Kiyotoshi Sekiguchi. ADAMTSL-6 Is a Novel Extracellular Matrix Protein That Binds to Fibrillin-1 and Promotes Fibrillin-1 Fibril Formation. J. Biol.
openaire  

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature. [PDF]

Ital J Pediatr
Pugnaloni F, De Rose DU, Digilio MC, Magliozzi M, Braguglia A, Valfrè L, Toscano A, Dotta A, Di Pede A.   +8 more
europepmc   +1 more source

Knockdown of fibrillin-1 suppresses retina-blood barrier dysfunction by inhibiting vascular endothelial apoptosis under diabetic conditions. [PDF]

Int J Ophthalmol
Zhang Y, Liu XJ, Zhai XR, Yao Y, Shao B, Zhen YH, Zhang X, Xiao Z, Wang LF, Zhang ML, Chen ZM.   +10 more
europepmc   +1 more source

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome. [PDF]

J Med Genet
Arnaud P, Mougin Z, Baujat G, Drouin-Garraud V, El Chehadeh S, Gouya L, Odent S, Jondeau G, Boileau C, Hanna N, Le Goff C.   +10 more
europepmc   +1 more source

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines. [PDF]

Ann Lab Med
Kim SW, Kim B, Kim Y, Lee KA.
europepmc   +1 more source

Expression of Elastin, F-Box and WD-40 Domain-Containing Protein 2, Fibrillin-1, and Alpha-Smooth Muscle Actin in Utilized Blood Vessels for explant culture-A New 3D in Vitro Vascular Model from Bovine Legs. [PDF]

Cell Biochem Biophys
Akiyama M.
europepmc   +1 more source

In vivo phenotypic vascular dysfunction extends beyond the aorta in a mouse model for fibrillin-1 (Fbn1) mutation. [PDF]

Sci Rep
Curry T, Barrameda ME, Thomas TC, Esfandiarei M.   +3 more
europepmc   +1 more source

Fibrillin-1 Deficiency Perturbs Aortic Cholinergic Relaxation and Adrenergic Contraction in a Mouse Model of Early Onset Progressively Severe Marfan Syndrome.

J Vasc Res
Cantalupo A, Asano K, Dikalov S, Gordon D, Ramirez F.   +4 more
europepmc   +1 more source

Fibrillin-1 G234D mutation in the hybrid1 domain causes tight skin associated with dysregulated elastogenesis and increased collagen cross-linking in mice.

Matrix Biol
Hossain AS, Clarin MTRDC, Kimura K, Biggin G, Taga Y, Uto K, Yamagishi A, Motoyama E, Narenmandula, Mizuno K, Nakamura C, Asano K, Ohtsuki S, Nakamura T, Kanki S, Baldock C, Raja E, Yanagisawa H.   +17 more
europepmc   +1 more source