[HTML][HTML] 扩张型心肌病相关致病基因的研究进展

王姚, 胡蓉, 杜建霖 - Advances in Clinical Medicine, 2023 - hanspub.org
扩张型心肌病(DCM) 是一种心肌疾病, 以结构(心室扩大) 和功能(心肌收缩力降低) 异常为特征,
发病时除外高血压, 心脏瓣膜病, 先天性心脏病或缺血性心脏病等, 病死率高, 预后差, 5 …

[HTML][HTML] Recent non-invasive parameters to identify subjects at high risk of sudden cardiac death

MD Corbo, E Vitale, M Pesolo, G Casavecchia… - Journal of Clinical …, 2022 - mdpi.com
Cardiovascular diseases remain among the leading causes of death worldwide and sudden
cardiac death (SCD) accounts for~ 25% of these deaths. Despite its epidemiologic …

Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants

SLVM Stroeks, D van Beek, ME Adriaens… - Circulation: Genomic …, 2023 - Am Heart Assoc
The main disease mechanism was thought to be TTN (titin) haploinsufficiency caused by
nonsense-mediated decay of mutant TTN mRNA, until 2 independent studies recently …

Amino acid substitutions hydrophilizing the core of titin domains cause dilated cardiomyopathy

I Martinez-Martin, A Crousilles, JP Ochoa… - bioRxiv, 2023 - biorxiv.org
The underlying genetic defect in most cases of dilated cardiomyopathy (DCM), a common
inherited heart disease, remains unknown. Intriguingly, many patients carry single missense …

[HTML][HTML] Die Genetik von Vorhofflimmern–auf dem Weg in die Präzisionsmedizin

S Kany, RB Schnabel - Herzschrittmachertherapie+ Elektrophysiologie, 2024 - Springer
Vorhofflimmern (VHF) ist eine verbreitete Herzkrankheit mit komplexer genetischer
Grundlage. Trotz der Fortschritte in der Behandlung bleibt die Sterblichkeit bei VHF …

Genetic basis of atrial fibrillation-on the road to precision medicine

S Kany, RB Schnabel - Herzschrittmachertherapie & …, 2023 - europepmc.org
Vorhofflimmern (VHF) ist eine verbreitete Herzkrankheit mit komplexer genetischer
Grundlage. Trotz der Fortschritte in der Behandlung bleibt die Sterblichkeit bei VHF …

La influencia de las hormonas sexuales en la salud cardiovascular: Perspectivas actuales y direcciones futuras

K Eskandar - Revista Peruana De Ciencias De La Salud, 2024 - dialnet.unirioja.es
La intrincada relación entre las hormonas sexuales y la salud cardiovascular ha atraído
cada vez más atención, revelando implicaciones significativas tanto para la prevención de …

The Influence of Sex Hormones on Cardiovascular Health: Current Perspectives and Future Directions

K Eskandar - Revista Peruana de Ciencias de la Salud, 2024 - revistas.udh.edu.pe
La intrincada relación entre las hormonas sexuales y la salud cardiovascular ha atraído
cada vez más atención, revelando implicaciones significativas tanto para la prevención de …

Cardiovascular Disease Pathogenicity Predictor (CVD-PP): A tissue-specific tool for discriminating pathogenicity cardiovascular disease gene variants

S Shah, M Ramaker, J Abdulrahim, K Corey… - 2023 - researchsquare.com
Methods. ClinVar pathogenic or likely pathogenic (P/LP) and benign or likely benign (B/LB)
from 47 genes previously associated with monogenic cardiovascular diseases (MCVDs) …

[PDF][PDF] Distal Myopathies: Reanalysis and Functional Characterization of Variants in the Actinin Alpha 2 (ACTN2) Gene

J Ranta-aho - 2022 - helda.helsinki.fi
Distal myopathies are a group of inherited diseases that cause progressive muscle
weakness primarily in the hands and feet. Variants in various different genes have been …