Results 121 to 130 of about 10,140 (167)

Novel fibrillin-1 mutation with variable presentation as a thoracic aortic aneurysm and intramural hematoma. [PDF]

JTCVS Tech, 2021
Brahmandam A, Vallabhajosyula P.
europepmc   +1 more source

Fibrillin-1-enriched microenvironment drives endothelial injury and vascular rarefaction in chronic kidney disease. [PDF]

Sci Adv, 2021
Li L, Liao J, Yuan Q, Hong X, Li J, Peng Y, He M, Zhu H, Zhu M, Hou FF, Fu H, Liu Y.   +11 more
europepmc   +1 more source

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

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

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