Tag: 22q13

June 2018
News

Mutations in autism gene may trigger milder effects than does its loss

by  /  20 June 2018

People with mutations in SHANK3 have milder features than do those missing a chunk of DNA that includes the gene.

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October 2017
Week of OctoberOct
23rd
2017
News / Spotted

Wi-Fi flap; obsessive-compulsive link; brain catalog and more

by  /  27 October 2017

Two researchers balk at talk that Wi-Fi and autism are linked, changes in an autism risk gene are tied to obsessive-compulsive traits in three species, and scientists plan to conduct a census of all of the brain’s cell types.

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June 2017
Opinion / Viewpoint

Family groups play key role in advancing autism research

by  /  27 June 2017

Families need more support from researchers in order for their heroic efforts to be optimally effective.

0 Comments
May 2017
News

Rare form of autism shows unique pattern of regression

by  /  24 May 2017

More than 40 percent of children with Phelan-McDermid syndrome lose skills they once had, beginning, on average, at age 6.

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April 2016
News

New role for autism gene extends treatment possibilities

by  /  11 April 2016

The autism-linked gene SHANK3 is known for its role at neuronal junctions, but it has another function that could serve as a drug target.

1 Comment
April 2014
News

Clinical research: Autism-related syndrome changes with age

by  /  4 April 2014

Many characteristics of Phelan-McDermid syndrome — an autism-linked disorder arising from abnormalities at the tip of chromosome 22q13 — change as individuals age.

1 Comment
January 2014
News

Mounting evidence implicates cerebellum in autism

by  /  6 January 2014

Results from four studies published in the past year point to a role for the cerebellum in autism-related behaviors.

8 Comments
December 2013
News

Genetics: SHANK3 duplication leads to hyperactivity in mice

by  /  17 December 2013

Mice with a duplication of SHANK3, a gene with strong links to autism, are hyperactive and manic, reports a study published 7 November in Nature.
 

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News

Drug fixes cellular defects in autism-related disorder

by  /  2 December 2013

A new stem-cell model of Phelan-McDermid syndrome points to a possible treatment for the rare autism-related disorder, according to a study published in Nature.

3 Comments
July 2013
News

Study catalogs features of Phelan-McDermid syndrome

by  /  11 July 2013

The majority of people lacking a functional copy of the SHANK3 gene have both autism and severe intellectual disability, according to a study published 11 June in Molecular Autism.

3 Comments