Results 1 to 10 of about 3,631,363 (269)
Nature Reviews Disease Primers, 2021 Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability.
D. Milewicz +8 more
semanticscholar +3 more sources
Journal of Pharmacy And Bioallied Sciences, 2017 Marfan syndrome (MFS) is the autosomal dominant-inherited multisystem connective-tissue disorder, with a reported incidence of 1 in 10,000 individuals and equal distribution in both genders. The main clinical manifestation of this disorder consists of an exaggerated length of the upper and lower limbs, hyperlaxity, scoliosis, alterations in the ...
T Sivasankari +3 more
+8 more sources
The Pathophysiology and Pathogenesis of Marfan Syndrome
Advances in Experimental Medicine and Biology, 2021 Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an autosomal dominant pattern with variable penetrance. While clinically this disease manifests in many different ways, the most life-threatening manifestations are ...
Sanford M. Zeigler +2 more
semanticscholar +1 more source
The Molecular Genetics of Marfan Syndrome
International Journal of Medical Sciences, 2021 Marfan syndrome (MFS) is a complex connective tissue disease that is primarily characterized by cardiovascular, ocular and skeletal systems disorders. Despite its rarity, MFS severely impacts the quality of life of the patients.
Qiu Du +5 more
semanticscholar +1 more source
Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO
Nature Communications, 2021 Thoracic aortic aneurysm, as occurs in Marfan syndrome, is generally asymptomatic until dissection or rupture, requiring surgical intervention as the only available treatment. Here, we show that nitric oxide (NO) signaling dysregulates actin cytoskeleton
Andrea de la Fuente-Alonso +20 more
semanticscholar +1 more source
The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management
Current Rheumatology Reports, 2021 Marfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5–10,000 (Chiu et al.
Lily Pollock +8 more
semanticscholar +1 more source
Age and Sex Dependency of Thoracic Aortopathy in a Mouse Model of Marfan Syndrome.
American Journal of Physiology. Heart and Circulatory Physiology, 2021 Thoracic aortic aneurysm is one of the manifestations of Marfan syndrome (MFS) that is known to affect men more severely than women. However, the incidence of MFS is similar between men and women. The aim of this study is to show that during pathological
Nazli Gharraee +3 more
semanticscholar +1 more source
Molecular Genetics & Genomic Medicine, 2023 Objective Loeys–Dietz syndrome (LDS) is a heritable disorder of connective tissue closely related to Marfan syndrome (MFS). LDS is caused by loss‐of‐function variants of genes that encode components of transforming growth factor‐β (TGF‐β) signaling ...
Satoshi Ishii +9 more
doaj +1 more source
Combined spinal-epidural anesthetic management of delivery for marfan syndrome: Case report
Journal of Obstetric Anaesthesia and Critical Care, 2023 Pregnancy in a patient with Marfan syndrome is associated with risks, including cardiovascular complications. The hemodynamic changes of pregnancy during delivery are deleterious to Marfan syndrome patients.
Matea Malinovic +2 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2021 Background Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS).
Bertrand Chesneau +11 more
doaj +1 more source