Associated Papers
DNA damage and repair in cardiomyopathy: mechanisms and therapeutic opportunities.
Zhou X et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2026
Precision Medicine in Cardiomyopathy: Advances and Future Directions.
Mehdi M et al.
Clinical Genetics, 2025
A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function.
Yang D et al.
Life Science Alliance, 2024
LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.
Matter A et al.
Aging Cell, 2024
Pervasive nuclear envelope ruptures precede ECM signaling and disease onset without activating cGAS-STING in Lamin-cardiomyopathy mice.
En A et al.
Biorxiv : the Preprint Server for Biology, 2024
How nuclear envelope dynamics can direct laminopathy phenotypes.
van Heerden D et al.
Current Opinion in Cell Biology, 2024
Natural History of Dilated Cardiomyopathy Due to c.77T>C (p.Val26Ala) in Emerin Protein.
Báez-Ferrer N et al.
Journal of Clinical Medicine, 2024
Lem2 is essential for cardiac development by maintaining nuclear integrity.
Ross JA et al.
Cardiovascular Research, 2023
The Role of the LEMD2 p.L13R Mutation in Dilated Cardiomyopathy.
Vargas JD
Circulation Research, 2023
Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy.
Chen R et al.
Circulation Research, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Loss of function of the nuclear envelope protein LEMD2 causes DNA damage-dependent cardiomyopathy.
Caravia XM et al.
The Journal of Clinical Investigation, 2022
Pathogenic genetic variants identified in Australian families with paediatric cataract.
Jones JL et al.
Bmj Open Ophthalmology, 2022
The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.
Borah S et al.
Frontiers in Cell and Developmental Biology, 2022
Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.
Gerull B et al.
Current Heart Failure Reports, 2021
-Using the C. elegans lem-2 Gene to Reconstruct the Human LEMD2 Mutation Associated with Hutterite-type Cataract/Cardiomyopathy.
AlKhaleefa A et al.
Micropublication Biology, 2020
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
Genetic Animal Models for Arrhythmogenic Cardiomyopathy.
Gerull B et al.
Frontiers in Physiology, 2020
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Marbach F et al.
American Journal of Human Genetics, 2019
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2.
Abdelfatah N et al.
Jacc. Basic to Translational Science, 2019
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
Boone PM et al.
Molecular Genetics & Genomic Medicine, 2016