title: Pericentrin expression in Down's syndrome.
abstract: 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.
authors: IRCCS Associazione Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy, micezia@tiscali.it.
authors: Michele
authors: M
authors: Salemi
authors: Concetta
authors: C
authors: Barone
authors: Carmelo
authors: C
authors: Romano
authors: Roberto
authors: R
authors: Salluzzo
authors: Filippo
authors: F
authors: Caraci
authors: Rita Anna
authors: RA
authors: Cantarella
authors: Maria Grazia
authors: MG
authors: Salluzzo
authors: Filippo
authors: F
authors: Drago
authors: Corrado
authors: C
authors: Romano
authors: Paolo
authors: P
authors: Bosco
mesh_terms: D000328:Adult; D000941:Antigens / Q000235:genetics*; D016022:Case-Control Studies; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006801:Humans; D008297:Male; D008875:Middle Aged; D012333:RNA, Messenger / Q000378:metabolism; D055815:Young Adult
chemical_list: D000941:Antigens; D012333:RNA, Messenger; C086178:pericentrin
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