About: Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations

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About: Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations 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
rdfs:seeAlso	http://dx.doi.org/10.2217/PGS.12.21
Description	Background: The enzyme NADPH-P450 oxidoreductase (POR) is the main electron donor to all microsomal CYPs. The possible contribution of common POR variants to inter- and intra-individual variability in drug metabolism is of great pharmacogenetic interest. Aim: To search for POR polymorphic alleles and estimate their frequencies in a Jewish population. Materials & methods: We analyzed the POR gene in 301 Ashkenazi and Moroccan Jews. Results: A total of 30 POR SNPs were identified, nine in the noncoding regions and 21 in the protein-coding regions (ten synonymous, 11 missense). Six of these missense variants are previously undescribed (5102P, V164M, V191M, D344N, E398A and D648N). Conclusion: The data collected in this study on missense POR SNPs, interpreted in light of the crystallographic structure of human POR, indicate that some POR missense variants may be potential biomarkers for future POR pharmacogenetic screening. Background: The enzyme NADPH-P450 oxidoreductase (POR) is the main electron donor to all microsomal CYPs. The possible contribution of common POR variants to inter- and intra-individual variability in drug metabolism is of great pharmacogenetic interest. Aim: To search for POR polymorphic alleles and estimate their frequencies in a Jewish population. Materials & methods: We analyzed the POR gene in 301 Ashkenazi and Moroccan Jews. Results: A total of 30 POR SNPs were identified, nine in the noncoding regions and 21 in the protein-coding regions (ten synonymous, 11 missense). Six of these missense variants are previously undescribed (5102P, V164M, V191M, D344N, E398A and D648N). Conclusion: The data collected in this study on missense POR SNPs, interpreted in light of the crystallographic structure of human POR, indicate that some POR missense variants may be potential biomarkers for future POR pharmacogenetic screening. (en)
Title	Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations (en)
skos:prefLabel	Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations (en)
skos:notation	RIV/00064165:_____/12:11396!RIV13-MZ0-00064165
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(GAP301/10/1426)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Martásek, Pavel
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	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	140333
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/12:11396
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	allele frequencies; CYP; oxidoreductase haplotype; Jewish populations; pharmacogenetics; POR; antley-bixler-syndrome; congenital adrenal-hyperplasia; cytochrome-p450 oxidoreductase; in-vitro; disordered steroidogenesis; 21-hydroxylase deficiency; steroid-metabolism; genetic-variants; hepatic drug; mutations (en)
http://linked.open.../riv/klicoveSlovo	antley-bixler-syndrome disordered steroidogenesis mutations allele frequencies pharmacogenetics 21-hydroxylase deficiency Jewish populations POR congenital adrenal-hyperplasia cytochrome-p450 oxidoreductase genetic-variants hepatic drug oxidoreductase haplotype steroid-metabolism CYP in-vitro
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[50D8F397E84B]
http://linked.open...i/riv/nazevZdroje	Pharmacogenomics
http://linked.open...in/vavai/riv/obor	CE
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Human cytochrome P450 oxidoreductase - effect of protein variant on structure, protein-protein interactions, chemical chaperones
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	13
http://linked.open...iv/tvurceVysledku	Martásek, Pavel Masters, BSS Šeda, Ondřej Gurwitz, D. Marohnic, CC Tomková, Mária
http://linked.open...ain/vavai/riv/wos	000302331400013
issn	1462-2416
number of pages	12 (xsd:int)

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