Varaico: Literature-Extracted Genetic Variants

Gene:PLN
Variant:p.R9L
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PLN

NM_002667.5:p.R9L

Associated Papers

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

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

Zanotti S et al.

Cells, 2023

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

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

Qin J et al.

Elife, 2022

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

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

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

Truszkowska GT et al.

Bmc Medical Genetics, 2015

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

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

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