Varaico: Literature-Extracted Genetic Variants

Gene:POPDC1
Variant:p.S201F
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POPDC1

NM_001199563.2:p.S201F

Associated Papers

Emerging therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances.

Parwez S et al.

Molecular Biology Reports, 2026

Popeye domain containing proteins modulate the voltage-gated cardiac sodium channel Nav1.5.

Rinné S et al.

Iscience, 2024

POPDC1 Variants Cause Atrioventricular Node Dysfunction and Arrhythmogenic Changes in Cardiac Electrophysiology and Intracellular Calcium Handling in Zebrafish.

Stoyek MR et al.

Genes, 2024

Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis.

Sun CC et al.

Clinical Genetics, 2023

Defective BVES-mediated feedback control of cAMP in muscular dystrophy.

Li H et al.

Nature Communications, 2023

Systemic AAV9.BVES delivery ameliorates muscular dystrophy in a mouse model of LGMDR25.

Li H et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023

A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.

Mahmood A et al.

Clinical Genetics, 2023

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.

Swan AH et al.

Acta Neuropathologica Communications, 2023

Engineering a precise adenine base editor with minimal bystander editing.

Chen L et al.

Nature Chemical Biology, 2023

POPDC1 scaffolds a complex of adenylyl cyclase 9 and the potassium channel TREK-1 in heart.

Baldwin TA et al.

Embo Reports, 2022

The Role of POPDC Proteins in Cardiac Pacemaking and Conduction.

Gruscheski L et al.

Journal of Cardiovascular Development and Disease, 2021

An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.

Holt I et al.

Bmc Molecular and Cell Biology, 2020

POPDC2 a novel susceptibility gene for conduction disorders.

Rinné S et al.

Journal of Molecular and Cellular Cardiology, 2020

The Role of the Popeye Domain Containing Gene Family in Organ Homeostasis.

Amunjela JN et al.

Cells, 2019

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

Vissing J et al.

Annals of Neurology, 2019

POPDC proteins and cardiac function.

Brand T

Biochemical Society Transactions, 2019

The Popeye domain containing gene family encoding a family of cAMP-effector proteins with important functions in striated muscle and beyond.

Swan AH et al.

Journal of Muscle Research and Cell Motility, 2019

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

De Ridder W et al.

Neurology. Genetics, 2019

Ten years of research on the role of BVES/ POPDC1 in human disease: a review.

Han P et al.

Oncotargets and Therapy, 2019

The Popeye Domain Containing Genes and Their Function as cAMP Effector Proteins in Striated Muscle.

Brand T

Journal of Cardiovascular Development and Disease, 2018

New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle.

Brand T et al.

Cellular Signalling, 2017

The Popeye Domain Containing Genes and their Function in Striated Muscle.

Schindler RF et al.

Journal of Cardiovascular Development and Disease, 2016

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

Schindler RF et al.

The Journal of Clinical Investigation, 2016

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