RGD Reference Report - Pericentrin expression in Down's syndrome. - Rat Genome Database

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Pericentrin expression in Down's syndrome.

Authors: Salemi, M  Barone, C  Romano, C  Salluzzo, R  Caraci, F  Cantarella, RA  Salluzzo, MG  Drago, F  Romano, C  Bosco, P 
Citation: Salemi M, etal., Neurol Sci. 2013 Nov;34(11):2023-5. doi: 10.1007/s10072-013-1529-z. Epub 2013 Aug 27.
RGD ID: 11537399
Pubmed: PMID:23979692   (View Abstract at PubMed)
DOI: DOI:10.1007/s10072-013-1529-z   (Journal Full-text)

Down's syndrome (DS) is the most frequent genetic cause of intellectual disability and is a chromosomal abnormality of chromosome 21 trisomy. The pericentrin gene (PCNT) has sequenced in 21q22.3 inside of the minimal critical region for Down's syndrome. Alterations of PCNT gene are associated with dwarfism, cardiomyopathy and other pathologies. In this study, we have evaluated the possible differential expression of PCNT mRNA, by qRT-PCR, in peripheral blood leukocytes of DS subjects compared with the normal population. In the present case-control study, PCNT gene expression was increased by 72.72% in 16 out 22 DS samples compared with normal subjects. Our data suggest that changes in the expression levels of PCNT in DS subjects may be involved into the molecular mechanism of Down's syndrome.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
PCNTHumanDown syndrome  IEP  RGD 
PcntMouseDown syndrome  ISOPCNT (Homo sapiens) RGD 
PcntRatDown syndrome  ISOPCNT (Homo sapiens) RGD 


Genes (Rattus norvegicus)
Pcnt  (pericentrin)

Genes (Mus musculus)
Pcnt  (pericentrin (kendrin))

Genes (Homo sapiens)
PCNT  (pericentrin)