There is now considerable and increasing evidence for a causal role for aberrant activity of
the Ras superfamily of small GTPases in human cancers. These GTPases function as GDP …

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders that is among the
most severe in terms of prevalence, morbidity and impact to the society. It is characterized by …

Autism spectrum disorder (ASD) is a severe neuropsychiatric disease with strong genetic
underpinnings. However, genetic contributions to autism are extremely heterogeneous, with …

Autism spectrum disorder (ASD) is a complex heterogeneous consortium of pervasive
development disorders (PDD) which ranges from atypical autism, autism, and Asperger …

Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous
mutations in either TSC1 or TSC2. The primary organ systems that are affected include the …

Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in the
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …

Background Tuberous sclerosis complex is a multiorgan disease resulting from a mutation of
one of two TSC genes. The two gene products form a functional complex that regulates the …

Mosaicism may occur as a somatic mutation occurring during embryogenesis, resulting in an
organism composed of 2 (or more) genetically distinct cell lineages. 1 The resulting …

Pancreatic neuroendocrine tumors (PanNENs) are rare sporadic cancers or develop as part
of hereditary syndromes. PanNENs can be both functioning and non-functioning based on …

Background Potential benefits of rapamycin or rapalogs for treating people with tuberous
sclerosis complex (TSC) have been shown. Currently everolimus (a rapalog) is only …