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Genomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic brazilian breast cancer cases
(Faculdade de Medicina, Universidade de Sao Paulo, 2014)
Derivação de células tronco pluripotentes induzidas a partir de pacientes com doenças mitocondriais como modelo de estudo da herança mitocondrial
(Universidade Federal de São CarlosUFSCarPrograma de Pós-Graduação em Genética Evolutiva e Biologia Molecular - PPGGEvCâmpus São Carlos, 2015-11-30)
Mitochondrial dysfunctions caused by mutations in the mitochondrial DNA (mtDNA) represent an important group of human pathologies. However, it is not possible to predict with accuracy the risk of a woman with mutant mtDNA ...
Structure, function and evolution of the animal mitochondrial replicative DNA helicase
(Taylor & Francis Ltd, 2016-01-02)
The mitochondrial replicative DNA helicase is essential for animal mitochondrial DNA (mtDNA) maintenance. Deleterious mutations in the gene that encodes it cause mitochondrial dysfunction manifested in developmental delays, ...
Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA
(2014)
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing ...