Dna mutational analysis - Open Access .click

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Are somatic mitochondrial DNA mutations relevant to our health? A challenge for mutation analysis techniques

Expert Opinion on Medical Diagnostics, 2007
A role of somatic mitochondrial (mt)DNA mutations in ageing and degenerative diseases was postulated decades ago, but this hypothesis remains untested. A substantial number of genetically engineered 'mutator' mouse lines with increased mtDNA mutation rates were expected to test the hypothesis.
Yevgenya, Kraytsberg +2 more
openaire +2 more sources

Analysis of mutations at the DNA repair genes in acute childhood leukaemia

British Journal of Haematology, 1998
Deficiency in DNA repair capability is considered to be responsible for oncogenesis. Hereditary and sporadic cancers in various tissues have been reported to have mutations at the DNA repair genes. In this study we analysed two excision repair genes (ERCC1 and XPCC) and two mismatch repair genes (hMSH2 and hMTH1) in the leukaemic blasts of newly ...
Y W, Lin +6 more
openaire +2 more sources

DNA mutation detection and analysis using miniaturized microfluidic systems

Expert Review of Molecular Diagnostics, 2006
Identification of genetic sequence variations occurring on a population-wide scale is key to unraveling the complex interactions that are the underlying cause of many medical disorders and diseases. A critical need exists, however, for advanced technology to enable DNA mutation analysis to be performed with significantly higher throughput and at ...
Maria I, Handal, Victor M, Ugaz
openaire +2 more sources

RepairSig: Deconvolution of DNA damage and repair contributions to the mutational landscape of cancer

Cell Systems, 2021
Jan Hoinka, Damian Wojtowicz, TERESA Przytycka +2 more
exaly

Analysis of Human Mitochondrial DNA Mutations