Results 81 to 90 of about 2,210,543 (259)

Pathophysiology and Pathogenesis of Marfan Syndrome.

Advances in Experimental Medicine and Biology, 2021
Sanford M Zeigler, B. Sloan, Jeffrey A. Jones   +2 more
semanticscholar   +1 more source

The Intersection Between Genetic Reproductive Carrier Screening and Genomic Newborn Screening: Implications for Clinical Practice

Prenatal Diagnosis, EarlyView.
Lilian Downie, Sebastian Lunke, Zornitza Stark   +2 more
wiley   +1 more source

Marfan syndrome: An eyesight of syndrome

Meta Gene, 2014
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1).
Sarita Agarwal, Ashok Kumar
openaire   +3 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  

Aortic dissection in patients with Marfan syndrome based on the IRAD data.

Annals of Cardiothoracic Surgery, 2017
Between January 1996 and May 2017, the International Registry on Acute Aortic Dissections has collected information on a total of 6,424 consecutive patients with acute aortic dissection, including 258 individuals with a diagnosis of Marfan syndrome ...
Hector W. L. de Beaufort, S. Trimarchi, A. Korach, M. Di Eusanio, D. Gilon, D. Montgomery, A. Evangelista, A. Braverman, E. Chen, E. Isselbacher, T. Gleason, C. de Vincentiis, T. Sundt, H. Patel, K. Eagle   +14 more
semanticscholar   +1 more source

Mitochondrial Calcium Uniporter‐Mediated Regulation of the SIRT3/GSK3β/β‐Catenin Signaling Pathway in Vascular Remodeling

The FASEB Journal, Volume 39, Issue 13, 15 July 2025.
In HU and hypertensive rats, MCU expression in cerebral arteries is reduced. This reduction impairs cellular Ca2+ buffering and promotes mitochondrial oxidative stress. The stress response initiates the downstream degradation of SIRT3, which subsequently inhibits the activity of GSK3β via acetylation and promotes the nuclear translocation of β‐catenin,
Min Jiang, Lejian Lin, Shuai Yue, Shujin Shi, Haojie Yan, Hui Yi, Fan Han, Shuai Xu, Junjie Su, Ran Zhang   +9 more
wiley   +1 more source

MARFAN SYNDROME PRESENTING WITH BILATERAL RETINAL DETACHMENT

National Journal of Medical Research, 2014
Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessels. Eye involvement may be in the form of retinal
Subrata Chakrabarti, Koushik Pan
doaj  

Manifestações Cardiovasculares em Paciente Portador de Síndrome de Marfan: Relato de Caso / Cardiovascular Manifestations in a Patient With Marfan's Syndrome: Case Report

Revista Ciências em Saúde, 2014
Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi ...
Eduardo Tadeu Ramos Almeida, Fábio Sergio Ferreira Resende Fonseca, Flávia Sala Pasquinelli   +2 more
doaj   +1 more source

Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

Lung India, 2009
We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor.
Kate A, Gothi D, Joshi J
doaj  

Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm.

Journal of applied physiology, 2017
Regular low-impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene.
C. Gibson, Cory Nielsen, Ramona Alex, Kimbal E. Cooper, Michael Farney, Douglas Gaufin, J. Cui, C. van Breemen, T. Broderick, Johana Vallejo‐Elias, Mitra Esfandiarei   +10 more
semanticscholar   +1 more source