-
Something wrong with this record ?
Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort
M. Tomková, SP. Panda, O. Šeda, A. Baxová, M. Hůlková, BS. Siler Masters, P. Martásek,
Language English Country England, Great Britain
Document type Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't
NLK
PubMed Central
from 2015 to 1 year ago
ProQuest Central
from 2000-02-01 to 2020-12-31
Health & Medicine (ProQuest)
from 2000-02-01 to 2020-12-31
PubMed
25712184
DOI
10.2217/pgs.14.169
Knihovny.cz E-resources
- MeSH
- DNA genetics MeSH
- Adult MeSH
- Gene Frequency MeSH
- Genetic Variation MeSH
- Haplotypes MeSH
- Polymorphism, Single Nucleotide * MeSH
- Kinetics MeSH
- Cohort Studies MeSH
- Protein Conformation MeSH
- Humans MeSH
- Mutation, Missense MeSH
- Models, Molecular MeSH
- Infant, Newborn MeSH
- Base Sequence MeSH
- Amino Acid Substitution MeSH
- Cytochrome P-450 Enzyme System chemistry genetics metabolism MeSH
- Linkage Disequilibrium MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, N.I.H., Extramural MeSH
- Geographicals
- Czech Republic MeSH
AIM: Estimating polymorphic allele frequencies of the NADPH-CYP450 oxidoreductase (POR) gene in a Czech Slavic population. METHODS: The POR gene was analyzed in 322 individuals from a control cohort by sequencing and high resolution melting analysis. RESULTS: We identified seven unreported SNP genetic variations, including two SNPs in the 5' flanking region (g.4965C>T and g.4994G>T), one intronic variant (c.1899-20C>T), one synonymous SNP (p.20Ala=) and three nonsynonymous SNPs (p.Thr29Ser, p.Pro384Leu and p.Thr529Met). The p.Pro384Leu variant exhibited reduced enzymatic activities compared with wild-type. CONCLUSION: New POR variant identification indicates the number of uncommon variants might be specific for each subpopulation being investigated, particularly germane to the singular role that POR plays in providing reducing equivalents to all CYP450s in the endoplasmic reticulum. Original submitted 15 September 2014; Revision submitted 17 November 2014.
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc16000255
- 003
- CZ-PrNML
- 005
- 20231213093846.0
- 007
- ta
- 008
- 160108s2015 enk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.2217/pgs.14.169 $2 doi
- 035 __
- $a (PubMed)25712184
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a enk
- 100 1_
- $a Tomková, Mária $u Department of Pediatrics, First Faculty of Medicine, Charles University, 128 08 Prague, Czech Republic.
- 245 10
- $a Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort / $c M. Tomková, SP. Panda, O. Šeda, A. Baxová, M. Hůlková, BS. Siler Masters, P. Martásek,
- 520 9_
- $a AIM: Estimating polymorphic allele frequencies of the NADPH-CYP450 oxidoreductase (POR) gene in a Czech Slavic population. METHODS: The POR gene was analyzed in 322 individuals from a control cohort by sequencing and high resolution melting analysis. RESULTS: We identified seven unreported SNP genetic variations, including two SNPs in the 5' flanking region (g.4965C>T and g.4994G>T), one intronic variant (c.1899-20C>T), one synonymous SNP (p.20Ala=) and three nonsynonymous SNPs (p.Thr29Ser, p.Pro384Leu and p.Thr529Met). The p.Pro384Leu variant exhibited reduced enzymatic activities compared with wild-type. CONCLUSION: New POR variant identification indicates the number of uncommon variants might be specific for each subpopulation being investigated, particularly germane to the singular role that POR plays in providing reducing equivalents to all CYP450s in the endoplasmic reticulum. Original submitted 15 September 2014; Revision submitted 17 November 2014.
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a substituce aminokyselin $7 D019943
- 650 _2
- $a sekvence nukleotidů $7 D001483
- 650 _2
- $a kohortové studie $7 D015331
- 650 _2
- $a systém (enzymů) cytochromů P-450 $x chemie $x genetika $x metabolismus $7 D003577
- 650 _2
- $a DNA $x genetika $7 D004247
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a frekvence genu $7 D005787
- 650 _2
- $a genetická variace $7 D014644
- 650 _2
- $a haplotypy $7 D006239
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a novorozenec $7 D007231
- 650 _2
- $a kinetika $7 D007700
- 650 _2
- $a vazebná nerovnováha $7 D015810
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a molekulární modely $7 D008958
- 650 _2
- $a missense mutace $7 D020125
- 650 12
- $a jednonukleotidový polymorfismus $7 D020641
- 650 _2
- $a konformace proteinů $7 D011487
- 651 _2
- $a Česká republika $7 D018153
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a Research Support, N.I.H., Extramural $7 D052061
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Panda, Satya Prakash
- 700 1_
- $a Šeda, Ondřej $7 xx0070901
- 700 1_
- $a Baxová, Alice
- 700 1_
- $a Hůlková, Martina
- 700 1_
- $a Siler Masters, Bettie Sue
- 700 1_
- $a Martásek, Pavel
- 773 0_
- $w MED00008477 $t Pharmacogenomics $x 1744-8042 $g Roč. 16, č. 3 (2015), s. 205-15
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/25712184 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20160108 $b ABA008
- 991 __
- $a 20231213093842 $b ABA008
- 999 __
- $a ok $b bmc $g 1102536 $s 924461
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2015 $b 16 $c 3 $d 205-15 $i 1744-8042 $m Pharmacogenomics $n Pharmacogenomics $x MED00008477
- LZP __
- $a Pubmed-20160108
