Results 131 to 140 of about 15,376 (205)

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

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer [PDF]

, 2002
Massimo Caputi, Raymond J. Kendzior, Karen Beemon   +2 more
openalex   +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

Microfibril-associated Glycoprotein-2 (MAGP-2) Is Specifically Associated with Fibrillin-containing Microfibrils but Exhibits More Restricted Patterns of Tissue Localization and Developmental Expression Than Its Structural Relative MAGP-1 [PDF]

, 1998
Mark A. Gibson, Merran Finnis, Jaliya Kumaratilake, Edward G. Cleary   +3 more
openalex   +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

Fibrillin-1 regulates endothelial sprouting during angiogenesis. [PDF]

Proc Natl Acad Sci U S A, 2023
Alonso F, Dong Y, Li L, Jahjah T, Dupuy JW, Fremaux I, Reinhardt DP, Génot E.   +7 more
europepmc   +1 more source

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

Nonselective Assembly of Fibrillin 1 and Fibrillin 2 in the Rodent Ocular Zonule and in Cultured Cells: Implications for Marfan Syndrome [PDF]

, 2013
Lauren C. Beene, Lauren W. Wang, Dirk Hubmacher, Douglas R. Keene, Dieter P. Reinhardt, Douglas S. Annis, Deane F. Mosher, Robert P. Mecham, Elias I. Traboulsi, Suneel Apte   +9 more
openalex   +1 more source

Nanostructure of fibrillin-1 reveals compact conformation of EGF arrays and mechanism for extensibility

, 2006
Clair Baldock, Veronique Siegler, Daniel V. Bax, Stuart A. Cain, Kieran T. Mellody, Andrew Marson, J. Louise Haston, Richard Berry, Ming-Chuan Wang, J. Günter Grossmann, Manfred Roessle, Cay M. Kielty, Tim J. Wess   +12 more
openalex   +2 more sources

Cell-type Specific Recognition of RGD- and Non-RGD-containing Cell Binding Domains in Fibrillin-1 [PDF]

, 1996
Hiroshi Sakamoto, Thomas J. Broekelmann, David A. Cheresh, Francesco Ramirez, Joel Rosenbloom, Robert P. Mecham   +5 more
openalex   +1 more source