Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA
synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense …

The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with
life-threatening consequences; currently, no treatment is available. The disease is caused by …

BACKGROUND: We have shown that the endogenous stimulation of cannabinoid type-1 (CB
1 ) receptors is a prerequisite for voluntary running in mice, but the precise mechanisms …

Glucocorticoids are released after hypothalamus-pituitary-adrenal axis stimulation by stress
and act both in the periphery and in the brain to bring about adaptive responses that are …

Intellectual disability (ID) is a genetically and clinically heterogeneous disorder, characterized
by limited cognitive abilities and impaired adaptive behaviors. In recent years, exome …

Endothelial cell adhesion and migration are critical steps of the angiogenic process, whose
dysfunction is associated with tumor growth and metastasis. The TRPM8 channel has …

Purpose: Activating missense mutations of KRAS are the most frequent oncogenic driver
events in lung adenocarcinoma (LUAD). However, KRAS isoforms are highly heterogeneous, …

G-quadruplex ligands exert their antiproliferative effects through telomere-dependent and
telomere-independent mechanisms, but the inter-relationships among autophagy, cell growth …

Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …

Glutamoptosis is the induction of apoptotic cell death as a consequence of the aberrant
activation of glutaminolysis and mTORC1 signaling during nutritional imbalance in proliferating …