Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility
E Gillis, L Van Laer, BL Loeys - Circulation research, 2013 - Am Heart Assoc
Aortic aneurysm, including both abdominal aortic aneurysm and thoracic aortic aneurysm, is
the cause of death of 1% to 2% of the Western population. This review focuses only on …
the cause of death of 1% to 2% of the Western population. This review focuses only on …
Marfan syndrome: current perspectives
G Pepe, B Giusti, E Sticchi, R Abbate… - The application of …, 2016 - Taylor & Francis
Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal
dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important …
dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important …
Prevalence of bicuspid aortic valve and associated aortopathy in newborns in Copenhagen, Denmark
AS Sillesen, O Vøgg, C Pihl, AA Raja, K Sundberg… - Jama, 2021 - jamanetwork.com
Importance The prevalence and characteristics of bicuspid aortic valve (BAV) are mainly
reported from selected cohorts. BAV is associated with aortopathy, but it is unclear if it …
reported from selected cohorts. BAV is associated with aortopathy, but it is unclear if it …
[HTML][HTML] Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor
for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 …
for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 …
[HTML][HTML] Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome
CJ Bowen, JFC Giadrosic, Z Burger… - The Journal of …, 2020 - Am Soc Clin Investig
Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue
disorder caused by heterozygous mutations in the COL3A1 gene, which encodes the pro-α …
disorder caused by heterozygous mutations in the COL3A1 gene, which encodes the pro-α …
Cardiovascular diseases and zinc
S Ozyildirim, SB Baltaci - Biological Trace Element Research, 2023 - Springer
Zinc is structurally and functionally essential for more than 300 enzymes and 2000
transcription factors in human body. Intracellular labile zinc is the metabolically effective zinc …
transcription factors in human body. Intracellular labile zinc is the metabolically effective zinc …
Surgical treatment of bicuspid aortic valve disease: knowledge gaps and research perspectives
A Della Corte, SC Body, AM Booher… - The Journal of thoracic …, 2014 - jtcvs.org
Research on bicuspid aortic valves (BAV) and associated conditions is increasing
exponentially. A major part of the current knowledge on BAV is derived from investigations …
exponentially. A major part of the current knowledge on BAV is derived from investigations …
The ascending aorta with bicuspid aortic valve: a phenotypic classification with potential prognostic significance
A Della Corte, C Bancone, G Dialetto… - European Journal of …, 2014 - academic.oup.com
OBJECTIVES Different methods to classify the anatomical configurations of the aorta with
bicuspid aortic valve (BAV) have been proposed. We aimed to test them in terms of …
bicuspid aortic valve (BAV) have been proposed. We aimed to test them in terms of …
[HTML][HTML] The complex relationship between hypoxia signaling, mitochondrial dysfunction and inflammation in calcific aortic valve disease: insights from the molecular …
Calcific aortic valve stenosis (CAVS) is among the most common causes of cardiovascular
mortality in an aging population worldwide. The pathomechanisms of CAVS are such a …
mortality in an aging population worldwide. The pathomechanisms of CAVS are such a …
Assessment of paravalvular leak severity and thrombogenic potential in transcatheter bicuspid aortic valve replacements using patient-specific computational …
Bicuspid aortic valve (BAV), the most common congenital valvular abnormality, generates
asymmetric flow patterns and increased stresses on the leaflets that expedite valvular …
asymmetric flow patterns and increased stresses on the leaflets that expedite valvular …