Human induced pluripotent stem-cell-derived cardiomyocytes as models for genetic cardiomyopathies
A Brodehl, H Ebbinghaus, MA Deutsch… - International journal of …, 2019 - mdpi.com
In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
M Ganapathi, L Argyriou, F Martínez-Azorín, S Morlot… - Human genetics, 2020 - Springer
Dilated cardiomyopathy (DCM) belongs to the most frequent forms of cardiomyopathy mainly
characterized by cardiac dilatation and reduced systolic function. Although most cases of …
characterized by cardiac dilatation and reduced systolic function. Although most cases of …
Detection and functional characterization of a novel MEF2A variation responsible for familial dilated cardiomyopathy
Q Qiao, CM Zhao, CX Yang, JN Gu, YH Guo… - Clinical Chemistry and …, 2021 - degruyter.com
Objectives Dilated cardiomyopathy (DCM) represents the most frequent form of
cardiomyopathy, leading to heart failure, cardiac arrhythmias and death. Accumulating …
cardiomyopathy, leading to heart failure, cardiac arrhythmias and death. Accumulating …
[HTML][HTML] In silico prediction, molecular modeling, and dynamics studies on the targeted next-generation sequencing identified genes underlying congenital heart …
Background: Individuals with Down syndrome (DS) have a 40%–60% chance of being born
with congenital heart disease (CHD). This indicates that CHD in individuals with DS is not …
with congenital heart disease (CHD). This indicates that CHD in individuals with DS is not …
Unveiling the Molecular Mechanisms Behind the Devastating Impact of the ALK Protein on Pediatric Cancers: Insights into Deleterious SNPs through In Silico …
A Almazroea - Indian Journal of Medical and Paediatric …, 2024 - thieme-connect.com
Introduction Pediatric cancers present significant challenges in terms of diagnosis and
treatment, and the anaplastic lymphoma kinase (ALK) protein has emerged as a crucial …
treatment, and the anaplastic lymphoma kinase (ALK) protein has emerged as a crucial …