Varaico: Literature-Extracted Genetic Variants

Gene:MYPN
Variant:p.Q529*
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MYPN

NM_032578.4:p.Q529*

Associated Papers

Cardiomyopathy-associated and basic residue mutations in myopalladin alter actin binding, bundling, and structural stability.

Arachchige AR et al.

Protein Science : a Publication of the Protein Society, 2026

Research progress of ankyrin repeat domain 1 protein: an updated review.

Xu X et al.

Cellular & Molecular Biology Letters, 2024

Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.

Yang Z et al.

Reviews in Cardiovascular Medicine, 2022

Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.

Chintanaphol M et al.

Reviews in Cardiovascular Medicine, 2022

Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload.

Filomena MC et al.

Elife, 2021

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.

Polavarapu K et al.

Journal of Clinical Neurology (seoul, Korea), 2021

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.

Cimiotti D et al.

International Journal of Molecular Sciences, 2021

Myopalladin promotes muscle growth through modulation of the serum response factor pathway.

Filomena MC et al.

Journal of Cachexia, Sarcopenia and Muscle, 2020

Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.

Refaat MM et al.

Bmc Medical Genomics, 2019

Overview of the Muscle Cytoskeleton.

Henderson CA et al.

Comprehensive Physiology, 2017

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

Miyatake S et al.

American Journal of Human Genetics, 2017

Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.

Bang ML

Journal of Cellular Physiology, 2017

Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.

Huby AC et al.

Journal of the American College of Cardiology, 2014

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.

Purevjav E et al.

Human Molecular Genetics, 2012

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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."