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Spectrum: Autism Research News

Tag: X chromosome

March 2014

Reference strains aid genetic testing for Rett syndrome

by  /  26 March 2014

Researchers have established a set of commercially available cell lines that can help gauge the quality of tests for Rett syndrome, they reported in the March issue of the Journal of Molecular Diagnostics.

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No longer junk: Role of long noncoding RNAs in autism risk

by ,  /  4 March 2014

Long pieces of RNA that do not code for protein have diverse and important roles in the cell and may contribute to autism risk, say Nikolaos Mellios and Mriganka Sur.

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January 2014

Clinical research: Extra X increases risk of autism

by  /  7 January 2014

Men who have an extra X chromosome have an elevated risk of developing autism, schizophrenia or bipolar disorder, according to a study in the January issue of the Journal of Psychiatric Research.

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November 2013

Study spells caution for bone marrow transplants for Rett

by  /  12 November 2013

Bone marrow transplants, which have been shown to arrest symptoms of Rett syndrome in young mice, have little effect on older mice, according to preliminary results presented Monday at the 2013 Society for Neuroscience annual meeting in San Diego. The findings suggest that this approach may not be a viable treatment for those who already have symptoms of the disorder.

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September 2013

Genetics: MeCP2 mutations lead to variable symptoms

by  /  6 September 2013

Harmful mutations in MeCP2 don’t always lead to Rett syndrome, and the syndrome can result from mutations in other genes, according to a study published 26 June in the Journal of Molecular Diagnostics.

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August 2013

How gender influences the autism brain

by ,  /  27 August 2013

Understanding the basis of sexual dimorphism in autism may not only inform our treatment of this condition, but may translate to therapies for many other mental illnesses, say Nirao Shah and Devanand Manoli.

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July 2013

Genetics algorithm reveals mosaic mutations

by  /  10 July 2013

A new software tool detects chromosomal alterations present in only a subset of cells in the body. This method, described 31 May in BMC Genomics, may help reveal mosaicism’s contribution to neurological disorders.

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May 2013

Genetics: Protein transport affects neuronal junctions

by  /  14 May 2013

Two proteins involved in shuttling other proteins between the outside and inside of a cell show a distinct pattern of expression in autism brains, according to a report published 19 March in Molecular Psychiatry.

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March 2013

Clinical research: Newborn screening can diagnose fragile X

by  /  15 March 2013

A mild form of fragile X syndrome that can lead to the full syndrome in one generation is more common than previously thought, according to a large study published 21 December in Genome Medicine.

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February 2013

Clinical research: MeCP2 duplication distinct from autism

by  /  13 February 2013

Most boys who have an extra copy of the MeCP2 gene have a diagnosis of autism, but their symptoms differ from those of classic autism, according to a study published 20 November in Autism Research.

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