Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.R9H
Back to variants list

PLN

NM_002667.5:p.R9H

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

Dilated cardiomyopathy: from genes and molecules to potential treatments.

Wang X et al.

Molecular and Cellular Biochemistry, 2025

Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies.

Olalekan SO et al.

The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2025

Genetic landscape of phospholamban cardiomyopathies.

Vafiadaki E et al.

Frontiers in Cell and Developmental Biology, 2025

Pathological mutations in the phospholamban cytoplasmic region affect its topology and dynamics modulating the extent of SERCA inhibition.

Weber DK et al.

Biochimica Et Biophysica Acta. Biomembranes, 2024

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

The Role of Personalized Medicine in Companion Animal Cardiology.

Rivas VN et al.

The Veterinary Clinics of North America. Small Animal Practice, 2023

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.

Zanotti S et al.

Cells, 2023

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

Vafiadaki E et al.

Frontiers in Cardiovascular Medicine, 2023

Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Bourfiss M et al.

Circulation. Genomic and Precision Medicine, 2022

Early calcium and cardiac contraction defects in a model of phospholamban R9C mutation in zebrafish.

Vicente M et al.

Journal of Molecular and Cellular Cardiology, 2022

Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series.

Tabata T et al.

Internal Medicine (tokyo, Japan), 2022

Genetic Basis of Dilated Cardiomyopathy in Dogs and Its Potential as a Bidirectional Model.

Gaar-Humphreys KR et al.

Animals : an Open Access Journal From Mdpi, 2022

A review of the underlying genetics and emerging therapies for canine cardiomyopathies.

Shen L et al.

Journal of Veterinary Cardiology : the Official Journal of the European Society of Veterinary Cardiology, 2022

Structures of PKA-phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy.

Qin J et al.

Elife, 2022

Sudden cardiac death: A comparative review of humans, dogs and cats.

Brugada-Terradellas C et al.

Veterinary Journal (london, England : 1997), 2021

Molecular noise filtering in the β-adrenergic signaling network by phospholamban pentamers.

Koch D et al.

Cell Reports, 2021

Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.

Cuello F et al.

Embo Molecular Medicine, 2021

The phenotypic characteristic observed by cardiac magnetic resonance in a PLN-R14del family.

Jiang X et al.

Scientific Reports, 2020

The R9H phospholamban mutation is associated with highly penetrant dilated cardiomyopathy and sudden death in a spontaneous canine model.

Yost O et al.

Gene, 2019

Effects of the Arg9Cys and Arg25Cys mutations on phospholamban's conformational equilibrium in membrane bilayers.

Nelson SED et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytes.

Ceholski DK et al.

Journal of Molecular and Cellular Cardiology, 2018

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.

Fish M et al.

Scientific Reports, 2016

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf

Deception in simplicity: hereditary phospholamban mutations in dilated cardiomyopathy.

Young HS et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2015

Effects of naturally occurring arginine 14 deletion on phospholamban conformational dynamics and membrane interactions.

Vostrikov VV et al.

Biochimica Et Biophysica Acta, 2015

Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend.

Haghighi K et al.

Journal of Molecular and Cellular Cardiology, 2014

Mechanisms of altered Ca²⁺ handling in heart failure.

Luo M et al.

Circulation Research, 2013

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR et al.

Journal of Medical Genetics, 2013

23396983 (PubMed )
Supplement: jmedgenet-2012-101270-s2.pdf

Tuning the structural coupling between the transmembrane and cytoplasmic domains of phospholamban to control sarcoplasmic reticulum Ca(2+)-ATPase (SERCA) function.

Ha KN et al.

Journal of Muscle Research and Cell Motility, 2012

Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

Ceholski DK et al.

The Journal of Biological Chemistry, 2012

Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

Ceholski DK et al.

The Journal of Biological Chemistry, 2012

Mutations in the human phospholamban gene in patients with heart failure.

Medeiros A et al.

American Heart Journal, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."