Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.
PMID:35778412
Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.
PMID:35085849
The mining and construction of a knowledge base for gene-disease association in mitochondrial diseases.
PMID:34903783
Pathogenic Mitochondrial DNA Mutation Load Inversely Correlates with Malignant Features in Familial Oncocytic Parathyroid Tumors Associated with Hyperparathyroidism-Jaw Tumor Syndrome.
PMID:34831144
Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease.
PMID:34301881
"Mitochondrial Toolbox" - A Review of Online Resources to Explore Mitochondrial Genomics.
PMID:32457801
Investigating Human Mitochondrial Genomes in Single Cells.
PMID:32403285
Synergistic Effect of Mitochondrial and Lysosomal Dysfunction in Parkinson's Disease.
PMID:31091796
HmtVar: a new resource for human mitochondrial variations and pathogenicity data.
PMID:30371888
Hi-MC: a novel method for high-throughput mitochondrial haplogroup classification.
PMID:29967758
Codon based co-occurrence network motifs in human mitochondria.
PMID:29449618
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
PMID:29444077
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
PMID:29285300
Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.
PMID:29253894
Packaging and transfer of mitochondrial DNA via exosomes regulate escape from dormancy in hormonal therapy-resistant breast cancer.
PMID:29073103
Mitochondrial mutations drive prostate cancer aggression.
PMID:28939825
SG-ADVISER mtDNA: a web server for mitochondrial DNA annotation with data from 200 samples of a healthy aging cohort.
PMID:28821228
Identification and analysis of mtDNA genomes attributed to Finns reveal long-stagnant demographic trends obscured in the total diversity.
PMID:28733587
Intra-individual purifying selection on mitochondrial DNA variants during human oogenesis.
PMID:28333293
Mitochondrial DNA sequencing demonstrates clonality of peritoneal implants of borderline ovarian tumors.
PMID:28241835
A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs.
PMID:28185569
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.
PMID:28153046
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.
PMID:27899581
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease.
PMID:27874000
A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma.
PMID:27351283
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
PMID:26919060
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.
PMID:26621530
Mitochondrial DNA mutations distinguish bilateral multifocal renal oncocytomas from familial Birt-Hogg-Dubé tumors.
PMID:26428318
FMiR: A Curated Resource of Mitochondrial DNA Information for Fish.
PMID:26317619
Similar Efficacies of Selection Shape Mitochondrial and Nuclear Genes in Both Drosophila melanogaster and Homo sapiens.
PMID:26297726
Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype.
PMID:26278626
Identification and functional prediction of mitochondrial complex III and IV mutations associated with glioblastoma.
PMID:25731774
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
PMID:25542617
Extraction and annotation of human mitochondrial genomes from 1000 Genomes Whole Exome Sequencing data.
PMID:25077682
MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing.
PMID:25028726
Mitochondrial DNA depletion sensitizes cancer cells to PARP inhibitors by translational and post-translational repression of BRCA2.
PMID:24336406
MitoBreak: the mitochondrial DNA breakpoints database.
PMID:24170808
Concept for estimating mitochondrial DNA haplogroups using a maximum likelihood approach (EMMA).
PMID:23948335
Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.
PMID:23870133
Association of genetic variation in the mitochondrial genome with blood pressure and metabolic traits.
PMID:22949535
Polymorphic NumtS trace human population relationships.
PMID:22160368