Results 51 to 60 of about 3,631,363 (269)
Marfan Syndrome (MFS): Inherited Microfibrillar Disorder Caused by Mutations in the Fibrillin-1 Gene
, 2016 There have been several studies suggesting that FBN1 gene was responsible for the Marfan syndrome (MFS) phenotype [1–4] before announcing the localisation of the gene on chromosome 15q21.1 in 1991 [3, 5, 6].
Child, AH +3 more
core +1 more source
Structural and Signaling Mechanisms of Aortic Wall Failure in Heritable Thoracic Aortic Disease
CellsHeritable thoracic aortic diseases (HTAD) are inherited conditions that increase the risk of thoracic aortic aneurysms, dissections, and premature aortic rupture.
Norifumi Takeda +5 more
doaj +1 more source
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.
Annals of Cardiothoracic Surgery, 2017 Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs.
J. Meester +5 more
semanticscholar +1 more source
Marfan syndrome with acute abdomen: a case report
, 2010 Beyazit ZencirciKahramanmaras Sutcu Imam University Medical Faculty, Department of Anesthesiology and Reanimation Kahramanmaras, TurkeyIntroduction: Marfan syndrome is an autosomal dominant connective tissue disorder characterized by a combination of ...
Beyazit Zencirci
core +1 more source
Case Reports in GeneticsNonsyndromic hereditary thoracic aortic aneurysm and dissection (TAAD) is an autosomal dominant disease; however, it is frequently difficult to identify the causative genes.
Daigo Nishijo +7 more
doaj +1 more source
Identification of Fibrillin-1 Gene Mutations in Marfan Syndrome by High- Resolution Melting Analysis
, 2010 Marfan syndrome has been associated with approximately 562 mutations in the fibrillin-1 (FBN1) gene. Mutation scanning of the FBN1 gene with DNA direct sequencing is time- consuming and expensive because of its large size.
HUNG, CHIA-CHENG;LIN, SHIN-YU;LEE, CHIEN-NAN;CHENG, HUI-YU;LIN, CHIOU-YA;CHANG, CHIEN-HUI;CHIU, HSIN-HUI;YU, CHIH-CHIEH;LIN, SHUAN-PEI;CHENG, WEN-FANG;HO, HONG-NERNG;NIU, DAU-MING;SU, YI-NING +1 more
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A large French family with TGFBR2 pathogenic variant: illustration of variability
Orphanet Journal of Rare DiseasesAims To report aortic events in a large family carrying a variant in the TGFBR2 gene. Methods Since 1990 up to 2024, we have conducted a longitudinal clinical study of a large single family comprising 63 members across four generations who carry the same
Ludivine Eliahou +10 more
doaj +1 more source
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground Marfan syndrome (MFS) is a genetic disorder affecting the vascular and musculoskeletal systems. Limited knowledge exists regarding the exercise benefits for this population.
Steeve Jouini +4 more
doaj +1 more source
Long Noncoding RNAs in Aortic Dissection: Mechanistic Roles and Therapeutic Potential
AGING MEDICINE, EarlyView.Aortic dissection (AD) involves vascular inflammation, VSMC dysfunction, and ECM degradation. LncRNAs regulate AD progression via ceRNA networks, with great potential as diagnostic biomarkers and therapeutic targets, while further clinical validation is needed.
Chao Chang +5 more
wiley +1 more source
Outcome of Stanford type B dissection in patients with Marfan syndrome. [PDF]
, 2023 OBJECTIVE To determine the outcome of Stanford type B aortic dissection in patients with Marfan syndrome and to evaluate aortic diameters at time of dissection as well as the impact of previous aortic root replacement.
Nucera, Maria +15 more
core +2 more sources