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Sequence variants of human tropoelastin affecting assembly, structural characteristics and functional properties of polymeric elastin in health and disease
SE Reichheld, LD Muiznieks, R Lu, S Sharpe… - Matrix Biology, 2019 - Elsevier
Elastin is the polymeric protein responsible for the physiologically important properties of
extensibility and elastic recoil of cardiovascular, pulmonary and many other tissues. In spite …
extensibility and elastic recoil of cardiovascular, pulmonary and many other tissues. In spite …
Impairment of elastic properties of the aorta in bicuspid aortic valve: relationship between biomolecular and aortic strain patterns
L Longobardo, ML Carerj, G Pizzino… - European Heart …, 2018 - academic.oup.com
Aims Bicuspid aortic valve (BAV) is associated with aortic wall alterations. We aimed to
detect any correlation between aortic elasticity and genetic and biomolecular patterns of …
detect any correlation between aortic elasticity and genetic and biomolecular patterns of …
[HTML][HTML] Genomic variations in susceptibility to intracranial aneurysm in the Korean population
EP Hong, BJ Kim, SS Cho, JS Yang, HJ Choi… - Journal of Clinical …, 2019 - mdpi.com
Genome-wide association studies found genetic variations with modulatory effects for
intracranial aneurysm (IA) formations in European and Japanese populations. We aimed to …
intracranial aneurysm (IA) formations in European and Japanese populations. We aimed to …
Plasma Soluble Human Elastin Fragments as an Intra‐Aneurysmal Localized Biomarker for Ruptured Intracranial Aneurysm
Background Fragmentation of the tunica media is a hallmark of intracranial aneurysm
formation, often leading to aneurysmal progression and subsequent rupture. The objective …
formation, often leading to aneurysmal progression and subsequent rupture. The objective …
Phenotypic findings associated with variation in elastin
A Justice, MA Kelly, G Bellus, JD Green, R Zaidi… - Human Genetics and …, 2025 - cell.com
Variation in the elastin gene (ELN) may contribute to connective tissue disease beyond the
known disease associations of supravalvar aortic stenosis and cutis laxa. Exome data from …
known disease associations of supravalvar aortic stenosis and cutis laxa. Exome data from …
Apolipoprotein E polymorphism and the risk of intracranial aneurysms in a Chinese population
H Liu, P Mao, C **e, W **e, M Wang, H Jiang - BMC neurology, 2016 - Springer
Background The relationship between the apolipoprotein E (APOE) polymorphism and
intracranial aneurysms has previously only been studied in Russia and Japan but not in …
intracranial aneurysms has previously only been studied in Russia and Japan but not in …
Variants of the elastin (ELN) gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach
Background: The presence of an intracranial aneurysm (IA) is thought to have a genetic
origin. The genetic association studies (GAS) that investigated the association between IA …
origin. The genetic association studies (GAS) that investigated the association between IA …
The evolutionary background and functional consequences of the rs2071307 polymorphism in human tropoelastin
SE Reichheld, LD Muiznieks, Q Huynh, N Wang… - …, 2021 - Wiley Online Library
Elastin is a major polymeric protein of the extracellular matrix, providing critical properties of
extensibility and elastic recoil. The rs2071307 genomic polymorphism, resulting in the …
extensibility and elastic recoil. The rs2071307 genomic polymorphism, resulting in the …
Genetic risk assessment of elastin gene polymorphisms with intracranial aneurysm in Koreans
JP Jeon, EP Hong, JE Kim, EJ Ha, WS Cho… - Neurologia medico …, 2018 - jstage.jst.go.jp
Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial Aneurysm in
Koreans Page 1 Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial …
Koreans Page 1 Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial …
[PDF][PDF] 主动脉夹层患者升主动脉中层弹性蛋白与弹力纤维的变化
戚悠飞, 舒畅, 罗明尧, 方坤, 张文波, 肖占祥 - **普通外科杂志, 2017 - zpwz.net
摘要目的: 探讨Stanford A 型主动脉夹层(AD) 升主动脉中层弹性蛋白和弹力纤维变化. 方法:
收集10 例Stanford A 型AD 患者术中获取的升主动脉管壁组织标本与10 例脑死亡捐献手术中或 …
收集10 例Stanford A 型AD 患者术中获取的升主动脉管壁组织标本与10 例脑死亡捐献手术中或 …