Results 191 to 200 of about 19,229 (251)

FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations. [PDF]

Mol Genet Metab Rep
Huang Y, Fang X, Ma L, Zhang J, Wang C, Gao T, Peng D.   +6 more
europepmc   +1 more source

Prodomain processing controls BMP-10 bioactivity and targeting to fibrillin-1 in latent conformation. [PDF]

FASEB J
Spanou CES, Yang C, Godwin ARF, Morosky S, Anbalagan A, Lütke S, Mörgelin M, Marcous F, Aziz U, Wohl AP, Jabeen I, Koch M, Jowitt TA, Roman BL, Tarakanova A, Baldock C, Sengle G.   +16 more
europepmc   +1 more source

Targeting of Bone Morphogenetic Protein Growth Factor Complexes to Fibrillin [PDF]

, 2008
Gerhard Sengle, Noé L. Charbonneau, Robert N. Ono, Takako Sasaki, Jennifer Alvarez, Douglas R. Keene, Hans Peter Bächinger, Lynn Y. Sakai   +7 more
openalex   +1 more source

Refractive Alterations in Marfan Syndrome: A Narrative Review. [PDF]

Medicina (Kaunas)
Vakalopoulos DG, Lampsas S, Chatzea MS, Togka KA, Tsagkogiannis V, Mitsopoulou D, Lalou L, Lampsa A, Katsimpras M, Petrou P, Kymionis GD.   +10 more
europepmc   +1 more source

Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation. [PDF]

BMC Med Genomics
Sabahizadeh A, Askarinejad A, AliAkbar SS, Soveizi M, Houshmand G, Mortezaeian H, Elahifar A, Maleki M, Kalayinia S.   +8 more
europepmc   +1 more source

A variant in the fibrillin-3 gene is associated with TGF-β and inhibin B levels in women with polycystic ovary syndrome [PDF]

, 2010
Nazia Raja‐Khan, Allen R. Kunselman, Laurence M. Demers, Kathryn G. Ewens, Richard S. Spielman, Richard S. Legro   +5 more
openalex   +1 more source

Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis [PDF]

, 2010
Jacopo Olivieri, Silvia Smaldone, Francesco Ramirez   +2 more
openalex   +1 more source

Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts. [PDF]

Sci Rep
Choi K, Huang M, Savige J.
europepmc   +1 more source

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family [PDF]

, 2010
Yvonne Hilhorst‐Hofstee, M Rijlaarsdam, Arthur J. Scholte, M. Swart-Van Den Berg, Michel I.M. Versteegh, Iris van der Schoot-van Velzen, Hans-Joachim Schäbitz, Emilia K. Bijlsma, Marieke J.H. Baars, Wilhelmina S. Kerstjens‐Frederikse, Jacques C. Giltay, Ben C.J. Hamel, Martijn H. Breuning, Gerard Pals   +13 more
openalex   +1 more source

Elastin as a Novel Extracellular Matrix From Aberrant HDAC4 Expression in PDGF-BB-Induced Orbital Fibroblasts From Graves' Ophthalmopathy Patients. [PDF]

Invest Ophthalmol Vis Sci
Chompoowong R, Wongphoom J, Kitkumthorn N, Saonanon P, Pruksakorn V, Palaga T, Hirankarn N, van Hagen PM, Dik WA, Virakul S.   +9 more
europepmc   +1 more source