Novel Truncating Variant c.1222DupC in RBM20 Causes Cardiomyopathy Consistent With Haploinsufficiency [0.03%]
Priyanka Pant,Yong Huang,Zakiya Ghouse et al.
Priyanka Pant et al.
Background: RBM20 (RNA binding motif protein 20) is a cardiac splicing factor responsible for the splicing of several cardiac genes such as titin (TTN), triadin (TRDN), ryanodine receptor 2 (RYR2), PDZ and LIM domain prot...
Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa [0.03%]
Timothy F Spracklen,Thomas Aldersley,John Lawrenson et al.
Timothy F Spracklen et al.
Background: Congenital heart disease (CHD) is a leading cause of pediatric morbidity and mortality worldwide. The genetics of CHD in African populations is not well understood, although it has been shown in other settings...
Integrated Genomic and Transcriptomic Study Reveals MAPK11 and PER1 as Important Obesity Susceptibility Genes in a High-Risk Hispanic/Latino Population [0.03%]
Daeeun Kim,Hannah G Polikowsky,Heather M Highland et al.
Daeeun Kim et al.
Background: While GWAS (genome-wide association studies) have identified over 1000 obesity-associated loci, their functional impact on gene expression remains unclear. Moreover, many studies have not fully captured the ge...
Long-Term Efficacy and Safety of GLP-1R Agonist and SGLT2 Inhibitor Therapy in the General Population: A Mendelian Randomization Study [0.03%]
Subbaramireddy Remala,Liming Liang,Amil M Shah et al.
Subbaramireddy Remala et al.
Background: SGLT2 (sodium-glucose cotransporter-2) inhibitors and GLP-1R (glucagon-like peptide-1 receptor) agonists reduce the risk of major adverse cardiovascular and kidney events in individuals with various cardiometa...
Rare KDR Variants Define a Distinct Genetic Contribution to Congenital Heart Disease [0.03%]
罕见的KDR变异体定义了先天性心脏病的独特遗传贡献
Feria A Ladha,Paul Avillach,Alexander R Opotowsky et al.
Feria A Ladha et al.
Scalable System-Wide CYP2C19 Pharmacogenomic Testing Reveals 38% Excess Incidence of Adverse Events in Metabolizers Receiving Inappropriate Prescriptions [0.03%]
可扩展的大规模CYP2C19药物基因组学检测显示，代谢者接受不适当处方的不良事件发生率高出38%
Natalie Telis,Douglas Stoller,Christopher N Chapman et al.
Natalie Telis et al.
Genome-Wide Association Study of Chronic Venous Insufficiency and Lymphedema in the Million Veteran Program [0.03%]
百万退伍军人项目中慢性静脉功能不全和淋巴水肿的全基因组关联研究
Gina M Peloso,Nimish Adhikari,Melissa M Young et al.
Gina M Peloso et al.
Background: Lymphedema is a chronic condition characterized by the accumulation of fluid due to impaired lymphatic drainage, frequently occurring secondary to chronic venous insufficiency (CVI), malignancy, or obesity. De...
Biobank-Scale Plasma Proteomics Identifies Novel Biomarkers in Hypertrophic Cardiomyopathy [0.03%]
基于生物样本库的大规模血浆蛋白质组学鉴定出肥厚性心肌病的新生物标志物
Jonathan H Chan,Christopher Grace,Mohsen Mazidi et al.
Jonathan H Chan et al.
Background: Hypertrophic cardiomyopathy (HCM) is characterized by substantial heterogeneity in both clinical phenotype and risk of adverse outcomes, including heart failure and sudden cardiac death. This highlights the ne...
Targeting PPAR-γ Reduces Fibrosis and Arrhythmogenic Remodeling in DSG2-Linked Arrhythmogenic Cardiomyopathy [0.03%]
靶向PPAR-γ可减少DSG2相关性心律失常型心肌病的纤维化和电重构现象
Yung-Hsin Yeh,Yu-Shien Ko,Yi-Hsin Chan et al.
Yung-Hsin Yeh et al.
Background: Arrhythmogenic cardiomyopathy is an inherited disorder characterized by fibro-fatty myocardial replacement and ventricular arrhythmias. Although desmosomal mutations such as desmoglein-2 (DSG2) are well-establ...
Yield of Postmortem Genetic Testing in Sudden Arrhythmic Death Syndrome: A Systematic Review and Meta-Analysis [0.03%]
尸检遗传学检测在突发性心律失常死亡综合征中的阳性率：系统评价和 meta 分析
Emanuele Monda,Sabrina Montuoro,Lia Crotti et al.
Emanuele Monda et al.
Background: Sudden arrhythmic death syndrome (SADS) refers to sudden cardiac death with structurally normal hearts at autopsy, most frequently attributed to inherited arrhythmia syndromes or concealed cardiomyopathies. Po...