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22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
22q13 deletion syndrome (Phelan–McDermid syndrome) [4] is a condition caused by the deletion of the tip of the q arm on chromosome 22. Most individuals with this disorder experience cognitive delays, low muscle tone, and sleeping, eating, and behavioural issues.
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This protein is highly expressed in the brain and is almost always deleted in Phelan-McDermid syndrome (PMS). MAPK8IP2 appears to regulate the ratio of AMPA receptors to NMDA receptors at glutamate synapses, [7] and thus may be an important contributor to the intellectual dysfunction and related neurological manifestations characteristic of PMS.
Next, Phelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is a neurodevelopmental disorder with a high risk of autism spectrum disorder that was modeled in assembloids containing cortical and striatal organoids.
SHANK proteins are scaffolding proteins at glutamatergic synapses crucial for synaptic development. The disruption of SHANK genes is associated with neurocognitive impairments and disorders. The disruptions, either from mutations or deletions, are associated with disorders such as Phelan-McDermid syndrome (PMS), schizophrenia, and ASD. SHANK 3 ...
At the core of Farrell's new organization and its mission: the actor's 20-year-old son James, who lives with Angelman Syndrome. "I want the world to be kind to James," Farrell told People in an ...
His papers on Timothy Syndrome [13] and Phelan McDermid Syndrome [14] identified neuronal defects in induced pluripotent stem cells from patients, setting the stage for the use of these models for drug development. In 2013, Dolmetsch accepted a position as the global head of neuroscience at the Novartis Institutes of BioMedical Research (NIBR).