Genes near the chromosomal region implicated in Williams syndrome are involved in epilepsy and autism-like behaviors, according to a study published 12 June in the European Journal of Human Genetics.
A number of autism risk factors converge on one cellular pathway: abnormal remodeling of the cell’s structural systems through the signaling protein Rho, says SFARI’s associate director for research, Alan Packer.
Analyzing how mutations in people with autism affect gene expression in blood-derived cells could help researchers pinpoint harmful mutations, according to research published 21 July in The American Journal of Human Genetics.
The duplication of a chromosomal region missing in people with Williams syndrome is associated with separation anxiety, according to a study published 8 June in The American Journal of Human Genetics.
An analysis of large duplications and deletions of DNA has identified new candidate genes for autism in pathways linked to the disorder. The results were published 22 May in Human Molecular Genetics.
Dysregulation of the intracellular signaling pathway RAS, a risk factor for idiopathic autism, may provide a unifying theory of the disorder. Although this is not an altogether new hypothesis, several new findings have strengthened the evidence for it considerably.
Individuals who have autism show distinct patterns of gene expression in neurological pathways compared with their unaffected siblings, according to unpublished work presented Saturday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.
Mouse pups with a duplication of GTF2I, a gene linked to Williams syndrome and autism, show extreme separation anxiety when separated from their mothers, according to unpublished findings presented Thursday at the International Congress of Human Genetics in Montreal, Canada.
A gene that changed rapidly after the human genome diverged from that of Neanderthals plays a critical role in brain development, according to unpublished results presented Thursday at the International Congress of Human Genetics in Montreal, Canada.
Three new studies analyzing genetic data from families in which just one child has autism have found the strongest evidence yet that rare new mutations contribute to the disorder.