Results 81 to 90 of about 10,140 (168)

Multi-exon deletions of the FBN1 gene in Marfan syndrome

BMC Medical Genetics, 2001
Background Mutations in the fibrillin -1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant multi-system connective tissue disorder. The 200 different mutations reported in the 235 kb, 65 exon-containing gene include only one family with a ...
Schrijver Iris, Liu Wanguo, Brenn Thomas, Furthmayr Heinz, Francke Uta   +4 more
doaj   +1 more source

Cell adhesion and integrin binding to recombinant human fibrillin‐1

FEBS Letters, 1996
Fibrillin‐1 is a major constituent of tissue microfibrils that occur in most connective tissues, either in close association with or independent of elastin. To test possible cell‐adhesive functions of this protein, we used recombinant human fibrillin‐1 polypeptides produced in a mammalian expression system in cell attachment and solid‐phase integrin ...
Pfaff, Martin, Reinhardt, Dieter P., Sakai, Lynn Y., Timpl, Rupert   +3 more
openaire   +2 more sources

The Marfan syndrome genetics

Zdravniški Vestnik, 2005
Background: The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix.
Galina Pungerčič
doaj  

The Biomechanics of Fibrillin Microfibrils: Lessons from the Ciliary Zonule

Cells
Marfan syndrome is an inherited connective tissue disorder that affects the cardiovascular, musculoskeletal, and ocular systems. It is caused by pathogenic variants in the fibrillin-1 gene (FBN1).
Pooja Rathaur, Juan Rodriguez, John Kuchtey, Samuel Insignares, Wendell B. Jones, Rachel W. Kuchtey, Steven Bassnett   +6 more
doaj   +1 more source

Fibrillin-1 Interactions with Heparin [PDF]

Journal of Biological Chemistry, 2005
Stuart A. Cain, Clair Baldock, John Gallagher, Amanda Morgan, Daniel V. Bax, Anthony S. Weiss, C. Adrian Shuttleworth, Cay M. Kielty   +7 more
openaire   +1 more source

Exploring thoracic aorta ECM alterations in Marfan syndrome: insights into aorta wall structure

Scientific Reports
Marfan syndrome is a connective tissue disorder caused by FBN1 mutations, leading to aortic wall fragility and increased susceptibility to aneurysm and dissection. This study investigated microstructural and molecular alterations in the thoracic aorta of
Rodrigo Barbosa de Souza, Luara Lucena Cassiano, Philipp Barnowski, Sara Ventura, Walter Miguel Turato, Suelen Cristina Russafa Nascimento, Giovanna Lodi Mignanelli, Waldir Caldeira, Ana Maria Cristina Rebelo Pinto da Fonseca Martins, Flavio de Carvalho Luposeli, Francisco Rafael Martins Laurindo, Dieter P. Reinhardt, Gerhard Sengle, Ivan Hong Jun Koh, Keith M. Meek, Philip N. Lewis   +15 more
doaj   +1 more source

Marfan syndrome: insights from animal models

Frontiers in Genetics
Marfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome.
Yuanyuan Jiang, Ping Jia, Xiaoying Feng, Dingding Zhang   +3 more
doaj   +1 more source

Microfibril-associated glycoprotein 4 forms octamers that mediate interactions with elastogenic proteins and cells

Nature Communications
Microfibril-associated glycoprotein 4 (MFAP4) is a 36-kDa extracellular matrix glycoprotein with critical roles in organ fibrosis, chronic obstructive pulmonary disease, and cardiovascular disorders, including aortic aneurysms.
Michael R. Wozny, Valentin Nelea, Iram Fatima S. Siddiqui, Shaynah Wanga, Vivian de Waard, Mike Strauss, Dieter P. Reinhardt   +6 more
doaj   +1 more source

Fibrillin-1, a calcium binding protein of extracellular matrix

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2000
Fibrillin-1 is a large extracellular matrix glycoprotein which assembles to form 10-12 nm microfibrils in extracellular matrix. Mutations in the human fibrillin-1 gene (FBN-1) cause the connective tissue disease Marfan syndrome and related disorders, which are characterised by defects in the skeletal, cardiovascular and ocular systems of the body ...
openaire   +2 more sources

The Fbn1 gene variant governs passive ascending aortic mechanics in the mgΔlpn mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency

Frontiers in Cardiovascular Medicine
IntroductionAscending thoracic aortic aneurysms arise from pathological tissue remodeling that leads to abnormal wall dilation and increases the risk of fatal dissection/rupture. Large variability in disease manifestations across family members who carry
Samar A. Tarraf, Rodrigo Barbosa de Souza, Ashley Herrick, Lygia V. Pereira, Chiara Bellini   +4 more
doaj   +1 more source