The previously “disease-associated” mt-tRNA variants.
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The previously “disease-associated” mt-tRNA variants.
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创建时间：
2015-12-03
相关数据集
Additional file 5: Table S5. of Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides
Training set before oversampling with SMOTE and validation set (each one in a different sheet of the file). Each mutation is described by its gene (GENE), amino acid position within the polypeptide (A
Figshare2017-03-10 更新40
Replication Pauses of the Wild-Type and Mutant Mitochondrial DNA Polymerase Gamma: A Simulation Study
The activity of polymerase γ is complicated, involving both correct and incorrect DNA polymerization events, exonuclease activity, and the disassociation of the polymerase:DNA complex. Pausing of pol-
NIAID Data Ecosystem30
Haplogroup affiliation and non-synonymous nucleotide changes of mtDNAs from LHON and control cybrid and fibroblast cell lines used in this study.
arCRS refers to the revised Cambridge reference sequence [58]. In addition, all mtDNAs differed from rCRS, which belongs to haplogroup H2a, for A8860G (ATP6) and A15326G (CYTB). bThis fibroblast cell
NIAID Data Ecosystem30
Detect genomic aberrations between PB1 and its counterpart, spindle-chromosome complex in human MII oocyte, PB2 and female pronucleus in human zygote at a single-cell level.. Homo sapiens
Inherited mitochondrial DNA (mtDNA) diseases transmit maternally and cause severe phenotypes. Since no effective treatment or genetic screening is available, nuclear genome transfer between patients’
NIAID Data Ecosystem40
Additional file 3: of Mitochondrial mutations in maternally inherited hearing loss
Clinical features of probands carrying m.1555A > G or m.3243A > G. (XLSX 11 kb)
NIAID Data Ecosystem30
