About: Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk

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About: Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk Goto Sponge NotDistinct Permalink

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
Description	Low-penetrance genetic variations contribute significantly to sporadic and familial form of colorectal cancer (CRC). Genome-wide association studies (GWAS) have uncovered numerous robust associations between common variants and CRC risk; only a few of those were protein altering non-synonymous polymorphisms. One of the hypotheses is that non-coding and intergenic variants may change the expression levels of one or several target genes and, thus, account for a fraction of phenotypic differences, including susceptibility to CRC. Such genetic variations have been detected as expression quantitative loci (eQTLs) and defined as “master regulators of transcription. Hereby we overview the potentialities to use results from GWAS and eQTL Low-penetrance genetic variations contribute significantly to sporadic and familial form of colorectal cancer (CRC). Genome-wide association studies (GWAS) have uncovered numerous robust associations between common variants and CRC risk; only a few of those were protein altering non-synonymous polymorphisms. One of the hypotheses is that non-coding and intergenic variants may change the expression levels of one or several target genes and, thus, account for a fraction of phenotypic differences, including susceptibility to CRC. Such genetic variations have been detected as expression quantitative loci (eQTLs) and defined as “master regulators of transcription. Hereby we overview the potentialities to use results from GWAS and eQTL (en)
Title	Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk (en)
skos:prefLabel	Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk Gene expression variations: potentialities of master regulator polymorphisms in colorectal cancer risk (en)
skos:notation	RIV/68378041:_____/12:00373890!RIV13-AV0-68378041
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(GAP304/10/1286), P(GP305/09/P194), Z(AV0Z50390512)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Vodička, Pavel Naccarati, Alessio Pardini, Barbara
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	Ústav experimentální medicíny AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	137796
http://linked.open...ai/riv/idVysledku	RIV/68378041:_____/12:00373890
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	master regulators of transcrition; genome-wide association studies (GWAS); colorectal cancer (en)
http://linked.open.../riv/klicoveSlovo	colorectal cancer genome-wide association studies (GWAS) master regulators of transcrition
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[54DA0D5649DD]
http://linked.open...i/riv/nazevZdroje	Mutagenesis
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...vavai/riv/projekt	Polymorphisms in the MTHFR gene: susceptibility to colorectal cancer and role in the response to therapy DNA repair and sporadic colorectal cancer.
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	27
http://linked.open...iv/tvurceVysledku	Naccarati, Alessio Pardini, Barbara Vodička, Pavel Kumar, R.
http://linked.open...ain/vavai/riv/wos	000300040200004
http://linked.open...n/vavai/riv/zamer	Molekulární, buněčné a systémové mechanizmy závažných onemocnění lidského organizmu, jejich diagnostika, terapie a farmakoterapie
issn	0267-8357
number of pages	7 (xsd:int)
http://bibframe.org/vocab/doi	10.1093/mutage/ger057

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