Biallelic variants in MCAT are associated with combined oxidative phosphorylation deficiency in humans and a clinical presentation that includes hypotonia, developmental delay, failure to thrive, and nystagmus.
Paolo Garagnani, Julien Marquis ... Claudio Franceschi
Genetic variants located in DNA repair genes and a reduced burden of somatic mutations protect the oldest living persons from age-related diseases, allowing an healthy aging phenotype.
As the first to track clonal evolution from precancerous to metastatic lesions in gallbladder cancer patients, spatial and temporal analyses reveal how subclonal diversity in precancerous stage changes toward the metastasis, which help early detection and effective treatment of cancer.
Many tumors are depleted of mitochondrial DNA; this depletion is associated with changes in gene expression and with the incidence of critical somatic mutations and alterations.
Surender Rajasekaran, Caleb P Bupp ... André S Bachmann
Genetic sequencing has led to the increased diagnoses of rare diseases, strategies such as repurposing drugs and global metabolomics offer promise and bring hope to afflicted families.
Young Seok Ju, Ludmil B Alexandrov ... Peter J Campbell
Identifying 1,907 mitochondrial somatic mutations from 1,675 tumor tissues provides new insights into the causes and effects of the mitochondrial genome mutations found in human cancers.
Anchoring of proteins to the cell membrane through the glycosylphosphatidylinositol (GPI) anchor is critical for the survival of the cells that will give rise to the brain and face.
Poh Hui Chia, Franklin Lei Zhong ... Bruno Reversade
A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.
Epigenome and Mitochondrial Barcode of Lineage from Endogenous Mutations (EMBLEM) enable tracking cell lineage in combination with chromatin profile in ATAC-seq data.
