Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.S110P
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TAFAZZIN

NM_000116.5:p.S110P

Associated Papers

How can we use stem cell-derived cardiomyocytes to understand the involvement of energetic metabolism in alterations of cardiac function?

Rebs S et al.

Frontiers in Molecular Medicine, 2023

Recent Advances in Modeling Mitochondrial Cardiomyopathy Using Human Induced Pluripotent Stem Cells.

Pavez-Giani MG et al.

Frontiers in Cell and Developmental Biology, 2021

Role of Tafazzin in Mitochondrial Function, Development and Disease.

Chin MT et al.

Journal of Developmental Biology, 2020

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

Brodehl A et al.

International Journal of Molecular Sciences, 2019

Dilated Cardiomyopathy in a 2-Year-Old Infant.

Peake RW et al.

Clinical Chemistry, 2017

Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.

Hijikata A et al.

Meta Gene, 2015

Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies.

Saric A et al.

Frontiers in Genetics, 2015

Your heart on a chip: iPSC-based modeling of Barth-syndrome-associated cardiomyopathy.

Zweigerdt R et al.

Cell Stem Cell, 2014

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies.

Wang G et al.

Nature Medicine, 2014

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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."