Literature DB >> 8530011

A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency.

F Broly1, D Marez, J M Lo Guidice, N Sabbagh, M Legrand, P Boone, U A Meyer.   

Abstract

A novel mutation that generates a stop codon in the third exon of the gene encoding the cytochrome P-450 CYP2D6 was identified in a Caucasian having a deficiency of the isozyme, by means of single strand conformation polymorphism analysis of DNA fragments amplified by the polymerase chain reaction, followed by selective sequencing.

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Year:  1995        PMID： 8530011     DOI： 10.1007/bf00197419

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  21 in total

1.  Genotyping of poor metabolisers of debrisoquine by allele-specific PCR amplification.

Authors:  M Heim; U A Meyer
Journal:  Lancet       Date:  1990-09-01       Impact factor: 79.321

2.  Poor metabolisers of nicotine and CYP2D6 polymorphism.

Authors:  S Cholerton; A Arpanahi; N McCracken; C Boustead; H Taber; E Johnstone; J Leathart; A K Daly; J R Idle
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Review 3.  Pharmacogenetic phenotyping and genotyping. Present status and future potential.

Authors:  F J Gonzalez; J R Idle
Journal:  Clin Pharmacokinet       Date:  1994-01       Impact factor: 6.447

4.  Polymorphic oxidation of sparteine and debrisoquine: related pharmacogenetic entities.

Authors:  M Eichelbaum; L Bertilsson; J Säwe; C Zekorn
Journal:  Clin Pharmacol Ther       Date:  1982-02       Impact factor: 6.875

5.  Debrisoquine oxidation polymorphism: phenotypic consequences of a 3-base-pair deletion in exon 5 of the CYP2D6 gene.

Authors:  F Broly; U A Meyer
Journal:  Pharmacogenetics       Date:  1993-06

6.  A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine.

Authors:  B Evert; E U Griese; M Eichelbaum
Journal:  Naunyn Schmiedebergs Arch Pharmacol       Date:  1994-10       Impact factor: 3.000

7.  Relationship between personality and debrisoquine hydroxylation capacity. Suggestion of an endogenous neuroactive substrate or product of the cytochrome P4502D6.

Authors:  A Llerena; G Edman; J Cobaleda; J Benítez; D Schalling; L Bertilsson
Journal:  Acta Psychiatr Scand       Date:  1993-01       Impact factor: 6.392

8.  Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype.

Authors:  R Saxena; G L Shaw; M V Relling; J N Frame; D T Moir; W E Evans; N Caporaso; B Weiffenbach
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150

9.  Genetic polymorphism of cytochrome P450 CYP2D6 in Zimbabwean population.

Authors:  C M Masimirembwa; I Johansson; J A Hasler; M Ingelman-Sundberg
Journal:  Pharmacogenetics       Date:  1993-12

10.  Progression of cervical intraepithelial neoplasia to cervical cancer: interactions of cytochrome P450 CYP2D6 EM and glutathione s-transferase GSTM1 null genotypes and cigarette smoking.

Authors:  A P Warwick; C W Redman; P W Jones; A A Fryer; J Gilford; J Alldersea; R C Strange
Journal:  Br J Cancer       Date:  1994-10       Impact factor: 7.640
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  7 in total

1.  Identification of CYP2D6 impaired functional alleles in Mexican Americans.

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Review 2.  Genetics and psychopharmacology: prospects for individualized treatment.

Authors:  Charles U Nnadi; Joseph F Goldberg; Anil K Malhotra
Journal:  Essent Psychopharmacol       Date:  2005

3.  An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine.

Authors:  D Marez; M Legrand; N Sabbagh; J M Lo-Guidice; P Boone; F Broly
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

Review 4.  Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy.

Authors:  Victoria M Pratt; Larisa H Cavallari; Andria L Del Tredici; Andrea Gaedigk; Houda Hachad; Yuan Ji; Lisa V Kalman; Reynold C Ly; Ann M Moyer; Stuart A Scott; R H N van Schaik; Michelle Whirl-Carrillo; Karen E Weck
Journal:  J Mol Diagn       Date:  2021-06-10       Impact factor: 5.341

5.  CYP2D6 genotype can help to predict effectiveness and safety during opioid treatment for chronic low back pain: results from a retrospective study in an Italian cohort.

Authors:  Concetta Dagostino; Massimo Allegri; Valerio Napolioni; Simona D'Agnelli; Elena Bignami; Antonio Mutti; Ron Hn van Schaik
Journal:  Pharmgenomics Pers Med       Date:  2018-10-24

6.  Recommendations from the EGAPP Working Group: testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors.

Authors: 
Journal:  Genet Med       Date:  2007-12       Impact factor: 8.822

7.  A human minor histocompatibility antigen resulting from differential expression due to a gene deletion.

Authors:  Makoto Murata; Edus H Warren; Stanley R Riddell
Journal:  J Exp Med       Date:  2003-05-12       Impact factor: 14.307
  7 in total

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