Tag: Phelan-McDermid syndrome

June 2011
News

Protein networks link different forms of autism, study says

by  /  13 June 2011

Researchers have identified hundreds of previously unknown connections between proteins involved in autism spectrum disorders, according to a report published last week in Science Translational Medicine.

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News

Molecular mechanisms: Mouse model supports role for SHANK3 in autism

by  /  3 June 2011

Mice with a mutation in SHANK3, a leading autism candidate gene, show moderate social defects, including less-than-normal interest in other mice. The findings, published 27 May in Cell, suggest that mutations in different sites on the gene can lead to different behaviors. This paper was retracted on 17 January 2013. Associate director of research Alan Packer discusses the implications of the retraction here.

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March 2011
News

Prenatal tests for autism mutations pose ethical dilemmas

by  /  31 March 2011

Genetic syndromes associated with autism are increasingly being diagnosed in utero because of techniques that can identify subtle mutations in the genome. But the technology is ahead of the ethical debate on whether and how to inform parents about mutations with unknown effects.

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Opinion

Face time

by  /  25 March 2011

In the world of Skype, instant messages and tweets, face-to-face interaction is still the best route to discovery, according to an intriguing study published in December.

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News

New SHANK3 mouse shows autism-like features

by  /  21 March 2011

Researchers have created a mouse carrying a deletion in SHANK3, an autism candidate gene, they reported yesterday in Nature. This is the second model of SHANK3 mutations but shows markedly more behavioral and brain defects compared with the first.

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News

Root strategy

by  /  11 March 2011

A new technique for creating stem cells from hair may help researchers understand how neurons and the junction between them form.

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News

Meeting brings unusual focus to Phelan-McDermid syndrome

by  /  10 March 2011

The first international meeting on Phelan-McDermid syndrome brought together researchers and family members of those affected by the disorder, sparking collaboration and some emotion.

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News

First-ever Phelan-McDermid meeting has its Eureka moments

by  /  10 March 2011

The First International Phelan-McDermid Syndrome Symposium, held last week in New York City, brought together scientists and patient advocates to share insights — including a surprising realization about mice missing the SHANK3 gene.

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