Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.D173delFs
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TAFAZZIN

NM_000116.5:p.D173delFs

Associated Papers

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

41536960 (PubMed )
Supplement: oeaf161_supplementary_data.zip › Table_S1_20251130.xlsx › Sheet1

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

Increased Reactive Oxygen Species-Mediated Ca2+/Calmodulin-Dependent Protein Kinase II Activation Contributes to Calcium Handling Abnormalities and Impaired Contraction in Barth Syndrome.

Liu X et al.

Circulation, 2021

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

Pavez-Giani MG et al.

Frontiers in Cell and Developmental Biology, 2021

Generation of urine-derived iPS cell line via a non-integrative method from a Barth syndrome patient with TAZ gene mutation.

Guo X et al.

Stem Cell Research, 2020

Role of Tafazzin in Mitochondrial Function, Development and Disease.

Chin MT et al.

Journal of Developmental Biology, 2020

Barth Syndrome: Exploring Cardiac Metabolism with Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Fatica EM et al.

Metabolites, 2019

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

Brodehl A et al.

International Journal of Molecular Sciences, 2019

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

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."