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1

Nowak, Maciej P. Comparison of polymorphic CYP2D6, CYP2C19 and CYP2A6 in Canadian Native Indian, Caucasian and Chinese populations. Ottawa: National Library of Canada = Bibliothèque nationale du Canada, 1999.

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2

Goodz, Shari D. Investigating aspects of CYP2A6 in Caucasian and African American smokers. Ottawa: National Library of Canada, 2002.

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3

Zeman, Marilyn Vera. evaluation of coumarin as an in vivo measure of CYP2A6 activity. Ottawa: National Library of Canada, 1998.

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4

Pianezza, Michael Lawrence. The influence of genetically variable CYP246 on tobacco dependence and smoking behaviour. Ottawa: National Library of Canada, 1998.

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5

Ramamoorthy, Yamini. In vitro characterization of the catalytic activity of cytochrome P450 2D6 (CYP2D6)*10. Ottawa: National Library of Canada, 2000.

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6

Dortok, E. Desiree. Analysis of the possible therapeutic use of CYP2A6 inhibition with methoxsalen in smoking cessation. Ottawa: National Library of Canada, 2001.

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7

Micu, Alina L. An investigation of the induction of hepatic CYP2E1 by low doses of nicotine in the rat. Ottawa: National Library of Canada, 2003.

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8

Berns, Trevor Aaron. The influence of CYP2D1 in the behavioural pharmacology of amphetamine and hydrocodone in the male wistar rat. Ottawa: National Library of Canada, 1995.

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9

Lekas, Poli. Analysis of human CYP2E1 mRNA in a HepG2 cell line by reverse transcription-polymerase chain reaction (RT-PCR). Ottawa: National Library of Canada, 1998.

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10

Kim, Bill Woo Sung. The influence of CYP2A6 and CYP2B6 genotypes on smoking behaviour in adolescents. 2004.

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11

Bupranolol: A putative CYP2D6 substrate. Ottawa: National Library of Canada = Bibliothèque nationale du Canada, 1992.

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12

Wong, Shirley Suet Ying. Characterization of duplication variants in the CYP2A6 gene. 2005.

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13

Wong, Shirley Suet Ying. Characterization of duplication variants in the CYP2A6 gene. 2005.

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14

Cascorbi, Ingolf. Polymorphic cytochrome P450 2D6 as the responsible enzyme of activation. Edited by Paul Farquhar-Smith, Pierre Beaulieu, and Sian Jagger. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198834359.003.0079.

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The landmark paper discussed in this chapter is ‘Bioactivation of the narcotic drug codeine in human liver is mediated by the polymorphic monooxygenase catalyzing debrisoquine 4-hydroxylation (cytochrome P-450 dbl/bufI)’, published by Dayer et al. in 1988. Codeine is an old but frequently prescribed drug used for the treatment of mild-to-moderate pain. However, its use is nowadays restricted after observations of partly fatal respiratory repression in children. Codeine itself exhibits no analgesic effect, but is partly activated by O-demethylation to morphine by cytochrome P450 2D6 (CYP2D6). The identification of the polymorphic CYP2D6 as the enzyme responsible for activation was achieved by Dayer et al. in 1998 and was an important milestone contributing to the widely observed inter-individual differences of drug action and side effects of codeine. Translating the pharmacogenetics of codeine into clinical practice is currently underway in clinical trials, to identify ineffective analgesics and, in particular, avoid severe adverse events.
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15

Howard, Lisa Angela. Alcohol, nicotine and genetic variation influence CYP2E1. 2003.

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16

Nicotine C-oxidation by human liver microsomes: A major role for CYP2A6. Ottawa: National Library of Canada, 1996.

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17

Tyndale, Rachel Fynvola. Genetically polymorphic P450IID1 (sparteine / debrisoquine - type CYP2D6): neuronal characterization and structural variants. 1992.

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18

Zawertailo, Laurie Anne. Variations in CYP2D6 activity affect the pharmacokinetics and dynamics of dextromethorphan in humans. 2002.

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19

Mochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.

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Spastic paraplegia type 5 (SPG5) is an autosomal recessive hereditary spastic paraplegia due to mutations in CYP7B1, which encodes oxysterol 7α‎-hydroxylase. Oxysterol 7α‎-hydroxylase is involved in the synthesis of bile acids from cholesterol. CYP7B1 mutations are responsible for rare forms of liver failure in infancy as well as lower motor neuron degeneration in adults with no obvious genotype-phenotype correlation. SPG5 is mostly characterized by spastic paraplegia with prominent posterior column sensory impairment that can lead to sensory ataxia and bladder dysfunction. SPG5 can easily be diagnosed thanks to the significant elevation of two plasma oxysterols: 27- and 25-hydroxycholesterol. Accordingly, plasma oxysterols are biomarkers that should be included in the screening of any spastic paraplegia of unknown etiology. Furthermore, the dramatic therapeutic response of a child with liver failure due to CYP7B1 mutations using chenodeoxycholic acid opens promising therapeutic perspectives for SPG5 patients, possibly as in cerebrotendinous xanthomatosis.
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20

Wu, Dafang. The polymorphism of cytochrome P450 2D6 (CYP2D6) as a pharmacogenetic factor in drug dependence. 1994.

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21

Malaiyandi, Viba. The impact of CYP2A6 genotype on smoking behaviour and cessation in a nicotine replacement therapy clinical trial. 2005.

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22

Constitutive embryonic and fetal expression of xenobiotic-metabolizing cytochromes: CYP1A1, CYP1A2, and CYP1B1. Ottawa: National Library of Canada, 1996.

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23

Pengaruh variasi gen CYP2A6, paparan asap rokok, dan berat placenta terhadap kejadian bayi berat lahir rendah: Laporan hasil penelitian fundamental. [Makassar]: Universitas Hasanuddin, 2007.

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24

Cytochrome P450 2e1 Its Role In Disease And Drug Metabolism. Springer, 2013.

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