Sex Differences in Fatty Acid Metabolism and Blood Pressure Response to Dietary Salt in Humans [0.03%]
人类脂肪酸代谢及膳食盐摄入血压反应的性别差异
Jeanne A Ishimwe,Jane F Ferguson,Annet Kirabo
Jeanne A Ishimwe
Salt sensitivity is a trait in which high dietary sodium (Na+) intake causes an increase in blood pressure (BP). We previously demonstrated that in the gut, elevated dietary Na+ causes dysbiosis. The mechanistic interplay between excess die...
Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease [0.03%]
遗传性胸主动脉疾病个体中鉴定的人类SMAD4基因组变异
Shreyas A Bhave,Dong-Chuan Guo,Stoyan Angelov et al.
Shreyas A Bhave et al.
Thoracic aortic aneurysms (TAAs) that progress to acute thoracic aortic dissections (TADs) are life threatening vascular events that have been associated with altered transforming growth factor (TGF) β signaling. In addition to TAA, multip...
Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP) [0.03%]
基因DP突变型心血管病患者的临床特征分析
Nosheen Reza,Alejandro de Feria,Jessica L Chowns et al.
Nosheen Reza et al.
Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recently, genetic variation ...
A Novel Human Biospecimen Repository for Clinical and Molecular Investigation of Thoracic Aortopathy [0.03%]
用于胸部主动脉病临床和分子研究的新的人类生物标本库
Courtney E Vujakovich,Benjamin J Landis
Courtney E Vujakovich
Thoracic aortic aneurysm (TAA) is a heritable aortopathy with significant morbidity and mortality, affecting children and adults. Genetic causes, pathobiological mechanisms, and prognostic markers are incompletely understood. In 2015, the C...
Biventricular Strain Imaging with Cardiac MRI in Genotyped and Histology Validated Amyloid Cardiomyopathy [0.03%]
基因型和组织学验证的淀粉样心肌病的心脏磁共振双心室应变成像
Abhinay Reddy,Vasvi Singh,Badri Karthikeyan et al.
Abhinay Reddy et al.
Cardiac amyloidosis (CA) is a common and potentially fatal infiltrative cardiomyopathy. Contrast-enhanced cardiac MRI (CMR) is used as a diagnostic tool. However, utility of CMR for the comprehensive analysis of biventricular strains and st...
LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype [0.03%]
长QT综合征相关突变A257G与基因内多态P74L相互作用以改变其生物物理表型
Jianding Cheng,David W Van Norstrand,Argelia Medeiros-Domingo et al.
Jianding Cheng et al.
The SNTA1-encoded α1-syntrophin (SNTA1) missense mutation, p.A257G, causes long QT syndrome (LQTS) by pathogenic accentuation of Nav1.5's sodium current (INa). Subsequently, we found p.A257G in combination with the SNTA1 polymorphism, p.P7...
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant [0.03%]
新型VCL基因突变（Lys815Arg）联合已知MYPBC3变异引起的心肌病并存先天性缺陷的家庭遗传性扩张型心肌病
Quinn S Wells,Natalie L Ausborn,Birgit H Funke et al.
Quinn S Wells et al.
Idiopathic dilated cardiomyopathy (DCM) is a primary myocardial disorder characterized by ventricular chamber enlargement and systolic dysfunction. Twenty to fifty percent of idiopathic DCM cases are thought to have a genetic cause. Of more...