BACKGROUND Primary ovarian insufficiency (POI) is characterized by marked
heterogeneity, but with a significant genetic contribution. Identifying exact causative genes …

Abstract tRNAs, nexus molecules between mRNAs and proteins, have a central role in
translation. Recent discoveries have revealed unprecedented complexity of tRNA …

Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

Mitochondria perform diverse yet interconnected functions, producing ATP and many
biosynthetic intermediates while also contributing to cellular stress responses such as …

Mitochondria are eukaryotic organelles that generate most of the energy in the cell by
oxidative phosphorylation (OXPHOS). Each mitochondrion contains multiple copies of a …

Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …

Anti-synthetase syndrome (ASSD) is an autoimmune disease characterized by the presence
of autoantibodies targeting one of several aminoacyl t-RNA synthetases (aaRSs) along with …

Primary ovarian insufficiency (POI) affects∼ 1% of women before 40 years of age. The
recent leap in genetic knowledge obtained by next generation sequencing (NGS) together …

Aminoacyl‐tRNA synthetases (ARSs) are essential and ubiquitous 'house‐keeping'enzymes
responsible for charging amino acids to their cognate tRNAs and providing the substrates for …

Mitochondria are critical organelles for endocrine health; steroid hormone biosynthesis
occurs in these organelles and they provide energy in the form of ATP for hormone …