An understanding of how heterozygous loss-of-function mutations in autism spectrum
disorder (ASD) risk genes, such as TBR1, contribute to ASD remains elusive. Conditional …

Most human disease manifests as a result of tissue pathology, due to an underlying disease
process (pathogenesis), rather than the acute loss of specific molecular function (s) …

Cognitive dysfunction is one of the most concerning outcomes in global population aging.
However, the mechanisms by which cognitive functions are impaired during aging remain …

Background As a scaffold protein, calcium/calmodulin-dependent serine protein kinase
(CASK) has been extensively studied in a variety of tissues throughout the body. The Cask …

Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder
characterised by a dyad of behavioural symptoms—social and communication deficits and …

Calcium/calmodulin-dependent serine protein kinase (CASK) is a membrane-associated
guanylate kinase (MAGUK) protein that is associated with neurodevelopmental disorders …

Deletion and truncation mutations in the X-linked gene CASK are associated with severe
intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls …

Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a
neurodevelopmental disorder caused by the deficiency of the X-chromosomal gene CASK …

Background Heterozygous loss of X-linked genes like CASK and MeCP2 (Rett syndrome)
causes developmental delay in girls, while in boys, loss of the only allele of these genes …

Heterozygous mutations in the X-linked gene CASK are associated with intellectual
disability, microcephaly, pontocerebellar hypoplasia, optic nerve hypoplasia and partially …