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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Using microarrays, de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation are identified, further link common genes between ASD and intellectual disability.
Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter
The molecular identification and pharmacological characterization of the extraneuronal catecholamine transporter is reported, which is unrelated to the family of sodium-driven neuronal monoamine transporters.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
The data suggest an involvement of SHOX in idiopathic growth retardation and in the short stature phenotype of Turner syndrome patients and a homeobox-containing gene (SHOX} from this region is isolated.
The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation
- V. Endris, B. Wogatzky, G. Rappold
- BiologyProceedings of the National Academy of Sciences…
- 23 August 2002
The isolation of a previously uncharacterized gene, MEGAP, which is disrupted and functionally inactivated by a translocation breakpoint in a patient who shares some characteristic clinical features, such as hypotonia and severe MR, with the 3p− syndrome is reported.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
It is suggested that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors is affected.
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
The SHOX expression pattern in the limb and first and second pharyngeal arches not only explains SHOX -related short stature phenotypes, but also for the first time provides evidence for the involvement of this gene in the development of additional Turner stigmata.