About: Increased sperm aneuploidy in two male carriers of germline TP53 mutations

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.ncbi.nlm.nih.gov/pubmed/21665182
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. (en)
Title	Increased sperm aneuploidy in two male carriers of germline TP53 mutations Increased sperm aneuploidy in two male carriers of germline TP53 mutations (en)
skos:prefLabel	Increased sperm aneuploidy in two male carriers of germline TP53 mutations Increased sperm aneuploidy in two male carriers of germline TP53 mutations (en)
skos:notation	RIV/00064203:_____/11:7071!RIV12-MZ0-00064203
http://linked.open...avai/predkladatel	Fakultní nemocnice v Motole
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9448), Z(MSM0021620813), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Macek jr., Milan Paulasová, Petra Diblík, Jan
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	204113
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/11:7071
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Li-Fraumeni syndrome; TP53 gene; fluorescence in situ hybridization; familial syndrome; turner-syndrome; breast-cancer; p53 mutations; spermatogenesis; frequency; abnormalities; checkpoint; neoplasms; carcinoma (en)
http://linked.open.../riv/klicoveSlovo	breast-cancer Li-Fraumeni syndrome TP53 gene carcinoma familial syndrome neoplasms p53 mutations turner-syndrome abnormalities fluorescence in situ hybridization frequency spermatogenesis checkpoint
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[89CE147A2D5B]
http://linked.open...i/riv/nazevZdroje	Cancer Genetics
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Polymorphisms in FSH- and androgen receptor genes and in the CFTR gene in the pathogenesis of severe reproductive disorders and in pharmacogenetic prevention of ovarian hyperstimulation syndrome
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	204
http://linked.open...iv/tvurceVysledku	Macek jr., Milan Diblík, Jan Paulasová, Petra Sedláček, Zdeněk Trková, Marie
http://linked.open...ain/vavai/riv/wos	000292020700007
http://linked.open...n/vavai/riv/zamer	The Molecular Basis of Childhood Malignancies and Therapeutic Applications Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	2210-7762
number of pages	4 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Increased sperm aneuploidy in two male carriers of germline TP53 mutations Increased sperm aneuploidy in two male carriers of germline TP53 mutations

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