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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F11%3A7071%21RIV12-MZ0-00064203
rdf:type
skos:Concept n14:Vysledek
rdfs:seeAlso
http://www.ncbi.nlm.nih.gov/pubmed/21665182
dcterms:description
Li-Fraumeni syndrome is a rare autosomal dominant cancer predisposition syndrome characterized by a broad spectrum of tumors. The disorder is caused by germline mutations in the TP53 gene. We studied chromosomes in the sperm of two male carriers of TP53 mutations. We observed increased sperm aneuploidy, mainly concerning the gonosomes when compared to four normal male controls. This observation may correlate with the involvement of the p53 protein in spermatogenesis, with its role in aneuploidy in cancer, and with the occurrence of two cases of Turner syndrome in families with germline TP53 mutations reported in the literature. Li-Fraumeni syndrome is a rare autosomal dominant cancer predisposition syndrome characterized by a broad spectrum of tumors. The disorder is caused by germline mutations in the TP53 gene. We studied chromosomes in the sperm of two male carriers of TP53 mutations. We observed increased sperm aneuploidy, mainly concerning the gonosomes when compared to four normal male controls. This observation may correlate with the involvement of the p53 protein in spermatogenesis, with its role in aneuploidy in cancer, and with the occurrence of two cases of Turner syndrome in families with germline TP53 mutations reported in the literature.
dcterms:title
Increased sperm aneuploidy in two male carriers of germline TP53 mutations Increased sperm aneuploidy in two male carriers of germline TP53 mutations
skos:prefLabel
Increased sperm aneuploidy in two male carriers of germline TP53 mutations Increased sperm aneuploidy in two male carriers of germline TP53 mutations
skos:notation
RIV/00064203:_____/11:7071!RIV12-MZ0-00064203
n14:predkladatel
n16:ico%3A00064203
n5:aktivita
n15:Z n15:P
n5:aktivity
P(NR9448), Z(MSM0021620813), Z(MZ0FNM2005)
n5:cisloPeriodika
5
n5:dodaniDat
n12:2012
n5:domaciTvurceVysledku
n8:7812248 n8:8211558 n8:9104992
n5:druhVysledku
n19:J
n5:duvernostUdaju
n13:S
n5:entitaPredkladatele
n9:predkladatel
n5:idSjednocenehoVysledku
204113
n5:idVysledku
RIV/00064203:_____/11:7071
n5:jazykVysledku
n7:eng
n5:klicovaSlova
Li-Fraumeni syndrome; TP53 gene; fluorescence in situ hybridization; familial syndrome; turner-syndrome; breast-cancer; p53 mutations; spermatogenesis; frequency; abnormalities; checkpoint; neoplasms; carcinoma
n5:klicoveSlovo
n6:p53%20mutations n6:familial%20syndrome n6:neoplasms n6:checkpoint n6:frequency n6:turner-syndrome n6:abnormalities n6:fluorescence%20in%20situ%20hybridization n6:breast-cancer n6:carcinoma n6:TP53%20gene n6:spermatogenesis n6:Li-Fraumeni%20syndrome
n5:kodStatuVydavatele
US - Spojené státy americké
n5:kontrolniKodProRIV
[89CE147A2D5B]
n5:nazevZdroje
Cancer Genetics
n5:obor
n17:FD
n5:pocetDomacichTvurcuVysledku
3
n5:pocetTvurcuVysledku
5
n5:projekt
n20:NR9448
n5:rokUplatneniVysledku
n12:2011
n5:svazekPeriodika
204
n5:tvurceVysledku
Macek jr., Milan Sedláček, Zdeněk Paulasová, Petra Diblík, Jan Trková, Marie
n5:wos
000292020700007
n5:zamer
n18:MSM0021620813 n18:MZ0FNM2005
s:issn
2210-7762
s:numberOfPages
4