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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 ...
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.
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.
NNZ-2591 is a synthetic analog of cyclic glycine-proline and experimental drug developed for Angelman syndrome, Phelan-McDermid syndrome, Pitt Hopkins syndrome, [1] [2] and Prader-Willi syndrome. [ 3 ]
58234 Ensembl ENSG00000251322 ENSMUSG00000022623 UniProt Q9BYB0 Q4ACU6 RefSeq (mRNA) NM_001080420 NM_001372044 NM_021423 RefSeq (protein) NP_277052 NP_067398 Location (UCSC) Chr 22: 50.67 – 50.73 Mb Chr 15: 89.38 – 89.44 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse SH3 and multiple ankyrin repeat domains 3 (Shank3), also known as proline-rich synapse-associated protein 2 ...
This page was last edited on 22 July 2006, at 23:58 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...
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).
In 2018, Feng and colleague Robert Desimone received a grant of over $2.3 million USD to correct MECP2 mutations, which are the cause of Rett syndrome. [14] In 2019, Feng and Zhigang He demonstrated that increasing myelination with the drug clemastine fumarate could reverse myelin deficits and hypersociability symptoms in mice lacking GTF2I ...