Mitochondrial genetics through the lens of single-cell multi-omics
Mitochondria carry their own genetic information encoding for a subset of protein-coding
genes and translational machinery essential for cellular respiration and metabolism. Despite …
genes and translational machinery essential for cellular respiration and metabolism. Despite …
[HTML][HTML] Mitochondrial DNA is a major source of driver mutations in cancer
Mitochondrial DNA (mtDNA) mutations are among the most common genetic events in all
tumors and directly impact metabolic homeostasis. Despite the central role mitochondria …
tumors and directly impact metabolic homeostasis. Despite the central role mitochondria …
Massively parallel single-cell mitochondrial DNA genotyping and chromatin profiling
Natural mitochondrial DNA (mtDNA) mutations enable the inference of clonal relationships
among cells. mtDNA can be profiled along with measures of cell state, but has not yet been …
among cells. mtDNA can be profiled along with measures of cell state, but has not yet been …
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
EM McCormick, MT Lott, MC Dulik, L Shen… - Human …, 2020 - Wiley Online Library
Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …
given unique features of the mtDNA genome, including maternal inheritance, variant …
Role of mitochondrial alterations in human cancer progression and cancer immunity
SF Wang, LM Tseng, HC Lee - Journal of biomedical science, 2023 - Springer
Dysregulating cellular metabolism is one of the emerging cancer hallmarks. Mitochondria
are essential organelles responsible for numerous physiologic processes, such as energy …
are essential organelles responsible for numerous physiologic processes, such as energy …
Respiratory complex and tissue lineage drive recurrent mutations in tumour mtDNA
Mitochondrial DNA (mtDNA) encodes protein subunits and translational machinery required
for oxidative phosphorylation (OXPHOS). Using repurposed whole-exome sequencing data …
for oxidative phosphorylation (OXPHOS). Using repurposed whole-exome sequencing data …
Mitochondrial single-cell ATAC-seq for high-throughput multi-omic detection of mitochondrial genotypes and chromatin accessibility
Natural sequence variation within mitochondrial DNA (mtDNA) contributes to human
phenotypes and may serve as natural genetic markers in human cells for clonal and lineage …
phenotypes and may serve as natural genetic markers in human cells for clonal and lineage …
Mitochondrial DNA mosaicism in normal human somatic cells
J An, CH Nam, R Kim, Y Lee, H Won, S Park, WH Lee… - Nature Genetics, 2024 - nature.com
Somatic cells accumulate genomic alterations with age; however, our understanding of
mitochondrial DNA (mtDNA) mosaicism remains limited. Here we investigated the genomes …
mitochondrial DNA (mtDNA) mosaicism remains limited. Here we investigated the genomes …
Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia
The interaction of germline variation and somatic cancer driver mutations is under-
investigated. Here we describe the genomic mitochondrial landscape in adult acute myeloid …
investigated. Here we describe the genomic mitochondrial landscape in adult acute myeloid …
[HTML][HTML] Development and validation of a metastasis-associated prognostic signature based on single-cell RNA-seq in clear cell renal cell carcinoma
C Zhang, H He, X Hu, A Liu, D Huang, Y Xu… - Aging (Albany …, 2019 - ncbi.nlm.nih.gov
Single-cell RNA sequencing (scRNA-seq) was recently adopted for deciphering intratumoral
heterogeneity across cell sub-populations, including clear cell renal cell carcinoma …
heterogeneity across cell sub-populations, including clear cell renal cell carcinoma …