Results 81 to 90 of about 10,140 (167)

Clinical diagnostics of fibrillinopathies (type 1)

Российский кардиологический журнал, 2013
Diagnostic criteria are presented for the syndromes related to mutations of fibrillin gene type 1 (such as Marfan syndrome, ectopia lentis, MASS phenotype, mitral valve prolapse syndrome, stiff skin syndrome, Shprintzen-Goldberg syndrome) and for the ...
E. L. Trisvetova
doaj   +1 more source

New insights into the structural role of EMILINs within the human skin microenvironment

Scientific Reports
Supramolecular extracellular matrix (ECM) networks play an essential role in skin architecture and function. Elastin microfibril interface-located proteins (EMILINs) comprise a family of three extracellular glycoproteins that serve as essential ...
Alvise Schiavinato, Fady Marcous, Alexandra V. Zuk, Douglas R. Keene, Sara F. Tufa, Laura M. Mosquera, Paola Zigrino, Cornelia Mauch, Beate Eckes, Katrien Francois, Julie De Backer, Nicolas Hunzelmann, Pia Moinzadeh, Thomas Krieg, Bert Callewaert, Gerhard Sengle   +15 more
doaj   +1 more source

Marfan syndrome: current perspectives

The Application of Clinical Genetics, 2016
Guglielmina Pepe,1,2 Betti Giusti,1,2 Elena Sticchi,1,2 Rosanna Abbate,1,2 Gian Franco Gensini,1–3 Stefano Nistri2,4 1Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center ...
Pepe G, Giusti B, Sticchi E, Abbate R, Gensini GF, Nistri S   +5 more
doaj  

P1148A in fibrillin-1 is not a mutation anymore [PDF]

Nature Genetics, 1997
M, Wang, K R, Mathews, K, Imaizumi, S, Beiraghi, B, Blumberg, M, Scheuner, J M, Graham, M, Godfrey   +7 more
openaire   +2 more sources

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

A Clinicoimmunohistopathologic Study of Anetoderma: Is Protruding Type More Advanced in Stage Than Indented Type?

Journal of Immunology Research, 2016
Background. The clinical and histopathologic classification of anetoderma are not well characterized. Objective. We aimed to investigate the clinical and histopathologic characteristics of anetoderma and to correlate clinical phenotypes with ...
Jung Eun Kim, Ki Min Sohn, Young Jun Woo, Kwan Ho Jeong, Miri Kim, Jeong Deuk Lee, Jun Young Lee, Hyun Jeong Park, Gyong Moon Kim, Chul Jong Park, Dong Soo Yu, Hoon Kang   +11 more
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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  

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

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

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