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Spectrum: Autism Research News

Tag: SHANK3

May 2012

Genetics: SHANK1 mutations found in men with autism

by  /  11 May 2012

Researchers have identified deletions in SHANK1 — the third member of a gene family that is closely linked to autism — in five men with the disorder, they reported 4 May in the American Journal of Human Genetics. This is the first study linking SHANK1 mutations to people with autism.

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Compensatory mechanisms

by  /  8 May 2012

Identifying genetic and other factors that protect children at risk of autism from developing the disorder could provide new avenues for treatment.

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Genetics: Study further implicates rare CNVs in autism

by  /  2 May 2012

Individuals with autism are more likely than controls to have small, rare duplications or deletions of stretches of DNA in genes that play a role in dampening signals in the brain, according to a study published 2 April in Molecular Autism.

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March 2012

Autism mutations lead to scores of symptoms in rodents

by  /  14 March 2012

Mutations in more than 100 autism-associated genes lead to shared neurobiological deficits in mice, including alterations in the shape of their brains and changes to the electrical properties of neurons, according to a study published 20 February in Molecular Autism.

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February 2012

Molecular mechanisms: Study reveals new fragile X drug target

by  /  22 February 2012

Researchers have identified a new mechanism that may underlie a runaway cell signaling pathway in fragile X syndrome. The results were published 22 January in Nature Neuroscience.  

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SHANK2 study bolsters ‘multi-hit’ gene model of autism

by  /  13 February 2012

By screening the genomes of hundreds of people with autism and analyzing the effects of newly identified mutations in cultured neurons, researchers have clarified the disorder’s link to the SHANK2 gene.

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January 2012

Funding fears prevent researchers from sharing their mice

by  /  9 January 2012

Despite funders’ requirements to share mouse models after publication, many researchers hoard the animals for the good of their labs — and that could have an adverse effect on the field as a whole.

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November 2011

Molecular mechanisms: SHANK2 mutants alter synapses

by  /  30 November 2011

Three mutations in SHANK2, an autism-associated gene, each lead to abnormal synapses, the junctions between neurons, according to a study in Human Molecular Genetics.

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Video: From men to mice and back again

by  /  15 November 2011

In a video interview at the 2011 Society for Neuroscience annual meeting in Washington, D.C., Joseph Buxbaum discussed the importance of mice with mutations in SHANK3, a leading autism candidate gene.

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Researchers debut SHANK2 mouse, SHANK3 rat

by  /  14 November 2011

Mice lacking the autism risk gene SHANK2 show social deficits and are extremely hyperactive, according to unpublished research presented Saturday at the 2011 Society for Neuroscience annual meeting in Washington, D.C.

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