Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies
Discrete categorization of Mendelian disease genes into dominant and recessive models
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …
Cardiocutaneous syndrome is caused by aggregation of iASPP mutants
R Lotz, C Osterburg, B Schäfer, X Lu, V Dötsch - Cell Death Discovery, 2024 - nature.com
The ASPP (apoptosis-stimulating protein of p53) family of proteins is involved in many
cellular interactions and is starting to emerge as a major scaffolding hub for numerous …
cellular interactions and is starting to emerge as a major scaffolding hub for numerous …
A novel likely pathogenic variant in the FBXO32 gene associated with dilated cardiomyopathy according to whole‑exome sequencing
Background Familial dilated cardiomyopathy (DCM) is a genetic heart disorder
characterized by progressive heart failure and sudden cardiac death. Over 250 genes have …
characterized by progressive heart failure and sudden cardiac death. Over 250 genes have …
An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome
A Coudert, J Thevenon, Q Testard… - American Journal of …, 2024 - Wiley Online Library
Dilated cardiomyopathy (DCM) is a rare disease in children and a leading cause of heart
failure. There are numerous causes of DCM including genetic causes leading to isolated or …
failure. There are numerous causes of DCM including genetic causes leading to isolated or …
Identification of novel prognostic targets in coronary artery disease and related complications using bioinformatics and next generation sequencing data analysis
B Vastrad, C Vastrad - bioRxiv, 2023 - biorxiv.org
Coronary artery disease (CAD) is the most common cardiovascular disorder and the leading
cause of heart-related deaths in world. Increasing molecular targets have been discovered …
cause of heart-related deaths in world. Increasing molecular targets have been discovered …