Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

Disruption of the most fundamental cellular energy process, the mitochondrial respiratory
chain, results in a diverse and variable group of multisystem disorders known collectively as …

Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

The thymus represents the major site of the production and generation of T cells expressing
αβ-type T-cell antigen receptors. Age-related involution may affect the ability of the thymus to …

Objective The prevalence of mitochondrial disease has proven difficult to establish,
predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of …

Introduction: Diabetes has emerged as an important risk factor for severe illness and death
from COVID-19. There is a paucity of information on glycemic control among hospitalized …

Objective Diverse and variable clinical features, a loose genotype–phenotype relationship,
and presentation to different medical specialties have all hindered attempts to gauge the …

Importance Germline pathogenic variants inBRCA1andBRCA2predispose to an increased
lifetime risk of breast cancer. However, the relevance of germline variants in other genes …

Susceptibility to tuberculosis is historically ascribed to an inadequate immune response that
fails to control infecting mycobacteria. In zebrafish, we find that susceptibility to …

Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …