Tag: mouse models

The SFARI Gene website has been redesigned. The updated platform features a streamlined user interface and new data visualizations, which were engineered with the aim of making it easier for users to find the latest information about genes implicated in autism susceptibility.

Developmental changes in a mouse model of UBE3A hyperactivation

Neural correlates of sensory hypersensitivity in autism spectrum disorder

A Conversation with SFARI Bridge to Independence Investigator Sung Han

SFARI Investigator Sung Han discusses his lab’s work and how the Bridge to Independence Award helped him launch his independent career in autism research.

Normal human chromosomes visualized by spectral karyotyping (SKY). Spectral karyotyping is a molecular cytogenetic technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors. Fluorescently labeled probes for each chromosome are made by labeling chromosome-specific DNA with different fluorophores. Because there are a limited number of spectrally distinct fluorophores, a combinatorial labeling method is used to generate many different colors. Spectral differences generated by combinatorial labeling are captured and analyzed by using an interferometer attached to a fluorescence microscope. Image processing software then assigns a pseudo color to each spectrally different combination, allowing the visualization of the individually colored chromosomes. This technique is used to identify structural chromosome aberrations in cancer cells and other disease conditions when Giemsa banding or other techniques are not accurate enough.

SFARI Gene: New data release

New data were added to SFARI Gene in March 2017. This data release included updated gene scores for candidate autism risk genes, new animal models, and new copy number variant loci associated with autism.

Fever and the brain in autism: Temperature versus inflammatory effects