Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.E2*
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PLN

NM_002667.5:p.E2*

Associated Papers

Promoting Autophagy Mitigates Stress-Induced Remodeling in Patient iPSC-CMs with the Phospholamban R9C Mutation.

Yu Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

In PLN-R14del mice, SR structure restoration, rather than calcium cycling, is the dominant effector of PLN-ASO treatment.

Sun L et al.

Cardiovascular Research, 2025

Genetic landscape of phospholamban cardiomyopathies.

Vafiadaki E et al.

Frontiers in Cell and Developmental Biology, 2025

Mitigation of Stress-induced Structural Remodeling and Functional Deficiency in iPSC-CMs with PLN R9C Mutation by Promoting Autophagy.

Yu Q et al.

Biorxiv : the Preprint Server for Biology, 2024

Phospholamban R14del disease: The past, the present and the future.

Vafiadaki E et al.

Frontiers in Cardiovascular Medicine, 2023

Review: Precision Medicine Approaches for Genetic Cardiomyopathy: Targeting Phospholamban R14del.

Deiman FE et al.

Current Heart Failure Reports, 2022

An mRNA assay system demonstrates proteasomal-specific degradation contributes to cardiomyopathic phospholamban null mutation.

Rohner E et al.

Molecular Medicine (cambridge, Mass.), 2021

Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.

Sun Y et al.

Frontiers in Cardiovascular Medicine, 2021

37273834 (PubMed )
Supplement: Data_Sheet_2.xlsx › Sheet1

A PLN nonsense variant causes severe dilated cardiomyopathy in a novel autosomal recessive inheritance mode.

Li Z et al.

International Journal of Cardiology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."