Associated Papers
Correlation analysis of TP53 missense mutations and p53 protein expression patterns in endometrial carcinoma.
Yang Y et al.
Human Pathology, 2026
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.
Takeda A et al.
Molecular Genetics & Genomic Medicine, 2023
Identification of novel mitochondrial localization signals in human Tafazzin, the cause of the inherited cardiomyopathic disorder Barth syndrome.
Dinca AA et al.
Journal of Molecular and Cellular Cardiology, 2018
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.
Hijikata A et al.
Meta Gene, 2015
Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence.
Debnath S et al.
Interdisciplinary Sciences, Computational Life Sciences, 2015
New clinical and molecular insights on Barth syndrome.
Ferri L et al.
Orphanet Journal of Rare Diseases, 2013
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