The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

Mosaicism denotes an individual who has at least two populations of cells with distinct
genotypes that are derived from a single fertilized egg. Genetic variation among the cell …

5-Fluorouracil (5-FU) is a chemotherapeutic drug with a good anti-cancer effect on various
types of cancers, such as colorectal cancer and breast cancer. However, previous studies …

Abstract The PI3K‐AKT‐MTOR signal transduction pathway is one of the essential signalling
cascades within the cell due to its involvement in many vital functions. The pathway initiates …

A very high proportion of cases of intellectual disability are genetic in origin and are
associated with the occurrence of epileptic seizures during childhood. These two disorders …

Abstract Purpose Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic
MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to …

KPTN-related disorder is an autosomal recessive disorder associated with germline variants
in KPTN (previously known as kaptin), a component of the mTOR regulatory complex …

Many patients experiencing a rare disease remain undiagnosed even after genomic testing.
Reanalysis of existing genomic data has shown to increase diagnostic yield, although there …

Heterozygous de novo or inherited gain-of-function mutations in the MTOR gene cause
Smith-Kingsmore syndrome (SKS). SKS is a rare autosomal dominant condition, and …

Background Right aortic arch (RAA) is a common congenital aortic arch abnormality.
Fetuses with RAA frequently have good outcomes after birth. However, chromosomal …