[HTML][HTML] Genetic restrictive cardiomyopathy: causes and consequences—an integrative approach

D Cimiotti, H Budde, R Hassoun, K Jaquet - International Journal of …, 2021 - mdpi.com
The sarcomere as the smallest contractile unit is prone to alterations in its functional,
structural and associated proteins. Sarcomeric dysfunction leads to heart failure or …

Understanding the molecular basis of cardiomyopathy

ML Bang, J Bogomolovas… - American Journal of …, 2022 - journals.physiology.org
Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can
be caused by mutations in a wide range of proteins located in different cellular …

[HTML][HTML] Filamin-C variant-associated cardiomyopathy: A pooled analysis of individual patient data to evaluate the clinical profile and risk of sudden cardiac death

R Celeghin, A Cipriani, R Bariani, MB Marinas… - Heart Rhythm, 2022 - Elsevier
Background Mutations in filamin-C (FLNC) are involved in the pathogenesis of
arrhythmogenic cardiomyopathy (ACM) and dilated cardiomyopathy (DCM), and have been …

Single-cell and spatial transcriptomics of the infarcted heart define the dynamic onset of the border zone in response to mechanical destabilization

DM Calcagno, N Taghdiri, VK Ninh, JM Mesfin… - Nature Cardiovascular …, 2022 - nature.com
The border zone (BZ) of the infarcted heart is a geographically complex and biologically
enigmatic interface separating poorly perfused infarct zones (IZs) from remote zones (RZs) …

[HTML][HTML] Desmosomal Arrhythmogenic cardiomyopathy: the story telling of a genetically determined heart muscle disease

G Thiene, C Basso, K Pilichou, M Bueno Marinas - Biomedicines, 2023 - mdpi.com
The history of arrhythmogenic cardiomyopathy (AC) as a genetically determined
desmosomal disease started since the original discovery by Lancisi in a four-generation …

Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General …

ED Carruth, M Qureshi, A Alsaid, MA Kelly… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: The FLNC gene has recently garnered attention as a likely cause of
arrhythmogenic cardiomyopathy, which is considered an actionable genetic condition …

Distribution and Degradation of Pork Filamin during Postmortem Aging

T Du, C Ma, Z Wang, Y Hao… - Journal of Agricultural and …, 2023 - ACS Publications
The filamin C (FLNC) was hypothesized to be colocalized with its certain binding partners in
pork tissues and calpain as well as caspase was assumed responsible for the postmortem …

Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias

JC Ohiri, L Dellefave‐Castillo, G Tomar… - Journal of the …, 2024 - Am Heart Assoc
Background Many cardiomyopathy‐associated FLNC pathogenic variants are heterozygous
truncations, and FLNC pathogenic variants are associated with arrhythmias. Arrhythmia …

[HTML][HTML] A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived …

M Bueno Marinas, M Cason, R Bariani… - International Journal of …, 2024 - mdpi.com
Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disease at risk of sudden
death. Genetic testing impacts greatly in ACM diagnosis, but gene-disease associations …

Variable clinical expression of a novel FLNC truncating variant in a large family

O Tomer, S Horowitz-Cederboim, D Rivkin… - International Journal of …, 2024 - Elsevier
Abstract Background Variants in Filamin-C (FLNC) have been associated with various
hereditary cardiomyopathies. Recent literature reports a prevalence of sudden cardiac death …