Results 171 to 180 of about 7,772 (216)
Some of the next articles are maybe not open access.
International Journal of Legal Medicine, 2001
We have compiled a database of mitochondrial DNA (mtDNA) control region, hypervariable regions 1 (HVR1) and 2 (HVR2) sequences of a total of 14,138 individuals compiled from 103 mtDNA publications before 1 January 2000, 13 data sets published in 2000 and 2001 and 2 unpublished data sets of Iraqi Kurds and Indians from Kerala.
A, Röhl +3 more
openaire +2 more sources
We have compiled a database of mitochondrial DNA (mtDNA) control region, hypervariable regions 1 (HVR1) and 2 (HVR2) sequences of a total of 14,138 individuals compiled from 103 mtDNA publications before 1 January 2000, 13 data sets published in 2000 and 2001 and 2 unpublished data sets of Iraqi Kurds and Indians from Kerala.
A, Röhl +3 more
openaire +2 more sources
Detection of Mutations in mtDNA
2007Publisher Summary This chapter focuses on the detection of mutations in mitochondrial DNA (mtDNA). There are several distinctive features of mtDNA that are relevant to the understanding of mtDNA-related diseases. An ever-increasing number of mitochondrial diseases with distinct clinical phenotypes have been associated with mutations in mtDNA, almost ...
Ali, Naini, Sara, Shanske
openaire +2 more sources
No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations
Journal of the Neurological Sciences, 2004With the publication of a patient with severe exercise intolerance, in whom the mutated mtDNA in muscle was shown to be paternally inherited, the strict maternal inheritance of mtDNA was challenged. Paternal mtDNA inheritance may have gone unrecognized in cases of mitochondrial disease with no clear maternal pattern of inheritance because mitochondrial
Marianne, Schwartz, John, Vissing
openaire +2 more sources
mtDNA GeneExtractor: A computer tool for mtDNA gene/region information extraction
Mitochondrion, 2009The analysis of considerable numbers of DNA sequences is largely dependent on the development of simple software tools for automatically process the genetic data deposited on public databases. However, there are some difficulties in the automation process due to diverse synonyms being used as qualifiers for genes and some inconsistencies in gene ...
Freitas, F +3 more
openaire +3 more sources
Heteroplasmy in mtDNA and the weight of evidence in forensic mtDNA analysis: a case report
International Journal of Legal Medicine, 2001Mitochondrial DNA (mtDNA) sequencing has been validated as a useful tool for forensic analysis. However, there are several aspects of the analysis which need to be considered in order to evaluate the value of the evidence. One of these aspects is related to heteroplasmy which is the state when two or more mtDNA populations occur in a single individual,
A, Salas, M V, Lareu, A, Carracedo
openaire +2 more sources
Analysis of BRCA1 and mtDNA haplotypes and mtDNA polymorphism in familial breast cancer
Mitochondrial DNA, 2013Mitochondrial DNA (mtDNA) defects have been postulated to play an important role in the modulation and/or progression of cancer. In the past decade, a wide spectrum of mtDNA variations have been suggested as potentially sensitive and specific biomarkers for several human cancer types. In this context, single nucleotide polymorphisms (SNPs) described as
Cristina, Gutiérrez Povedano +5 more
openaire +2 more sources
mtDNA as a tool for identification of human remains
International Journal of Legal Medicine, 1996Two cases are presented in order to emphasize the importance of mitochondrial DNA in forensic medicine. The first case involved a charred body which could not be identified by morphological means because of severe destruction of all tissues. The parallel use of PCR methods using genomic DNA and sequencing of the mitochondrial d-loop region produced ...
Lutz-Bonengel, Sabine +3 more
openaire +3 more sources
mtDNA heterogeneity inPanulirus argus
Experientia, 1983Restriction endonuclease analysis of mtDNA polymorphisms inPanulirus argus has revealed significant heterogeneity and possible species subdivision.
M, McLean, C K, Okubo, M L, Tracey
openaire +2 more sources
In Vitro Analysis of mtDNA Replication
2020Human mitochondrial DNA is a small circular double-stranded molecule that is essential for cellular energy production. A specialized protein machinery replicates the mitochondrial genome, with DNA polymerase γ carrying out synthesis of both strands.
Jay P, Uhler, Maria, Falkenberg
openaire +2 more sources
mtDNA maintenance: disease and therapy
2020Mitochondrial maintenance disorders present as a spectrum ranging from severe infantile multisystemic syndrome to childhood or adult tissue-specific diseases. Hallmark is the variable association of qualitative (point mutations, multiple deletions) or quantitative (copy number reduction) molecular genetic defect of mitochondrial DNA (mtDNA ...
Quadalti C., Garone C.
openaire +2 more sources