Results 41 to 50 of about 21,236,271 (159)

"Computational Analysis of the Effect of fbn1 Gene Mutations in the Marfan Syndrome" [PDF]

Iranian Journal of Public Health, 2004
Fibrillin is a large glycoprotein synthesized in the tissues involved in Marfan syndrome, and known to be involved in tissue elasticity. The syndrome is corresponded to fbn1 gene and is characterized by cardiovascular, ocular, and skeletal abnormalities.
H Mohabatkar
doaj   +2 more sources

Ca2+-dependent Interface Formation in Fibrillin-1 [PDF]

Journal of Biological Chemistry, 2005
The calcium-binding epidermal growth factor-like (cbEGF) domain is a common structural motif in extracellular and transmembrane proteins. K(d) values for Ca2+ vary from the millimolar to nanomolar range; however the molecular basis for this variation is poorly understood.
Jensen, SA, Corbett, A, Knott, V, Redfield, C, Handford, P   +4 more
openaire   +2 more sources

Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias

Frontiers in Genetics, 2021
The term “fibrillinopathies” gathers various diseases with a wide spectrum of clinical features and severity but all share mutations in the fibrillin genes.
Pauline Arnaud, Pauline Arnaud, Zakaria Mougin, Catherine Boileau, Catherine Boileau, Carine Le Goff   +5 more
doaj   +1 more source

FIBRILLINS IN TENDON

Frontiers in Aging Neuroscience, 2016
Tendons among connective tissue, mainly collagen, contain also elastic fibres made of fibrillin 1, fibrillin 2 and elastin that are broadly distributed in tendons and represent 1-2% of the dried mass of the tendon.
Betti Giusti, Guglielmina Pepe
doaj   +1 more source

Processing and assembly of fibrillin‐1

International Journal of Experimental Pathology, 2000
Fibrillins are extracellular matrix proteins of ˜350 kD. They have a complex multidomain structure and are the major components of microfibrillar structures in both elastic and nonelastic tissues (Sakai et al. 1986; Kielty & Shuttleworth 1995). Mutations in the FBN-1 gene cause Marfan Syndrome, which is a heritable connective tissue disease with an ...
Matthew J. Rock, C. Adrian Shuttleworth, Cay M. Kielty   +2 more
openaire   +2 more sources

The influence of fibrillin‐1 and physical activity upon tendon tissue morphology and mechanical properties in mice

Physiological Reports, 2019
Fibrillin‐1 mutations cause pathological changes in connective tissue that constitute the complex phenotype of Marfan syndrome. In this study, we used fibrillin‐1 hypomorphic and haploinsufficient mice (Fbn1mgr/mgR and Fbn1+/− mice, respectively) to ...
Peter H. T. Tran, Tanja Skrba, Elisabeth Wondimu, Giuseppina Galatioto, René Brüggebusch Svensson, Annesofie T. Olesen, Abigail L. Mackey, S. Peter Magnusson, Francesco Ramirez, Michael Kjaer   +9 more
doaj   +1 more source

The evolution of extracellular fibrillins and their functional domains.

PLoS ONE, 2012
Fibrillins constitute the major backbone of multifunctional microfibrils in elastic and non-elastic extracellular matrices, and are known to interact with several binding partners including tropoelastin and integrins.
Adam Piha-Gossack, Wayne Sossin, Dieter P Reinhardt   +2 more
doaj   +1 more source

Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study

BMC Musculoskeletal Disorders, 2022
Background Fibrillin-1 (FBN1) is an extracellular matrix glycoprotein essential to the structural component of microfibrils and FBN1 gene polymorphisms can be associated with adolescent idiopathic scoliosis (AIS) susceptibility.
Gustavo Borges Laurindo de Azevedo, Jamila Alessandra Perini, Antônio Eulálio Pedrosa Araújo Junior, Luis Antonio Medeiros Moliterno, Rodrigo Mantelatto Andrande, João Antonio Matheus Guimarães, Helton Luiz Aparecido Defino   +6 more
doaj   +1 more source

Extracellular matrix and vascular dynamics in the kidney of a murine model for Marfan syndrome.

PLoS ONE, 2023
Fibrillin-1 is a pivotal structural component of the kidney's glomerulus and peritubular tissue. Mutations in the fibrillin-1 gene result in Marfan syndrome (MFS), an autosomal dominant disease of the connective tissue.
Rodrigo Barbosa de Souza, Renan Barbosa Lemes, Orestes Foresto-Neto, Luara Lucena Cassiano, Dieter P Reinhardt, Keith M Meek, Ivan Hong Jun Koh, Philip N Lewis, Lygia V Pereira   +8 more
doaj   +1 more source

Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PLoS ONE, 2012
The extracellular glycoprotein fibrillin-1 forms microfibrils that act as the template for elastic fibers. Most mutations in fibrillin-1 cause Marfan syndrome with severe cardiovascular and ocular symptoms, and tall stature.
Stuart A Cain, Amanda McGovern, Andrew K Baldwin, Clair Baldock, Cay M Kielty   +4 more
doaj   +1 more source