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Showing 1 to 12 of 12 entries
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A Systematic Review and Analysis of the Use of Polygenic Scores in Pharmacogenomics.

Clinical pharmacology and therapeutics

Johnson D, Wilke MAP, Lyle SM, Kowalec K, Jorgensen A, Wright GEB, Drögemöller BI.
PMID: 34953075
Clin Pharmacol Ther. 2021 Dec 25; doi: 10.1002/cpt.2520. Epub 2021 Dec 25.

Polygenic scores (PGSs) have emerged as promising tools for complex trait risk prediction. The application of these scores to pharmacogenomics provides new opportunities to improve the prediction of treatment outcomes. To gain insight into this area of research, we...

Novel variant in glycophorin c gene protects against ribavirin-induced anemia during chronic hepatitis C treatment.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

Lin JJ, Loucks CM, Trueman JN, Drögemöller BI, Wright GEB, Yoshida EM, Ford JA, Lee SS, Kim RB, Al-Judaibi B, Schwarz UI, Ramji A, Tam E, Ross CJ, Carleton BC.
PMID: 34562771
Biomed Pharmacother. 2021 Nov;143:112195. doi: 10.1016/j.biopha.2021.112195. Epub 2021 Sep 22.

BACKGROUND: The current use of ribavirin in difficult-to-cure chronic hepatitis C patients (HCV) and patients with severe respiratory infections is constrained by the issue of ribavirin-induced hemolytic anemia that affects 30% of treated patients, requiring dosage modification or discontinuation....

The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers in pharmacology

da Rocha JEB, Othman H, Botha G, Cottino L, Twesigomwe D, Ahmed S, Drögemöller BI, Fadlelmola FM, Machanick P, Mbiyavanga M, Panji S, Wright GEB, Adebamowo C, Matshaba M, Ramsay M, Simo G, Simuunza MC, Tiemessen CT, Baldwin S, Chiano M, Cox C, Gross AS, Thomas P, Gamo FJ, Hazelhurst S.
PMID: 34721006
Front Pharmacol. 2021 Apr 28;12:634016. doi: 10.3389/fphar.2021.634016. eCollection 2021.

No abstract available.

A systematic review and analysis of the use of polygenic scores in pharmacogenomics.

Clinical pharmacology and therapeutics

Johnson D, Wilke MA, Lyle SM, Kowalec K, Jorgensen A, Wright GE, Drögemöller BI.
PMID: 34953075
Clin Pharmacol Ther. 2021 Dec 25; doi: 10.1002/cpt.2520. Epub 2021 Dec 25.

Polygenic scores (PGS) have emerged as promising tools for complex trait risk prediction. The application of these scores to pharmacogenomics provides new opportunities to improve the prediction of treatment outcomes. To gain insight into this area of research, we...

A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on .

NPJ genomic medicine

Twesigomwe D, Wright GEB, Drögemöller BI, da Rocha J, Lombard Z, Hazelhurst S.
PMID: 32789024
NPJ Genom Med. 2020 Aug 03;5:30. doi: 10.1038/s41525-020-0135-2. eCollection 2020.

Genetic variation in genes encoding cytochrome

Adult GAMT deficiency: A literature review and report of two siblings.

Molecular genetics and metabolism reports

Modi BP, Khan HN, van der Lee R, Wasim M, Haaxma CA, Richmond PA, Drögemöller B, Shah S, Salomons G, van der Kloet FM, Vaz FM, van der Crabben SN, Ross CJ, Wasserman WW, van Karnebeek CDM, Awan FR.
PMID: 33996490
Mol Genet Metab Rep. 2021 Apr 26;27:100761. doi: 10.1016/j.ymgmr.2021.100761. eCollection 2021 Jun.

Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency disorder and an inborn error of metabolism presenting with progressive intellectual and neurological deterioration. As most cases are identified and treated in early childhood, adult phenotypes that can help in understanding...

Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity.

NPJ genomic medicine

Scott EN, Wright GEB, Drögemöller BI, Hasbullah JS, Gunaretnam EP, Miao F, Bhavsar AP, Shen F, Schneider BP, Carleton BC, Ross CJD.
PMID: 34021165
NPJ Genom Med. 2021 May 21;6(1):35. doi: 10.1038/s41525-021-00199-4.

Anthracyclines are highly effective chemotherapeutic agents; however, their clinical utility is limited by severe anthracycline-induced cardiotoxicity (ACT). Genome-wide association studies (GWAS) have uncovered several genetic variants associated with ACT, but the impact of these findings requires further elucidation. We...

Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants.

Pharmacogenomics

Ouellette TW, Wright GE, Drögemöller BI, Ross CJ, Carleton BC.
PMID: 33769074
Pharmacogenomics. 2021 Apr;22(5):251-261. doi: 10.2217/pgs-2020-0130. Epub 2021 Mar 26.

No abstract available.

TCERG1L allelic variation is associated with cisplatin-induced hearing loss in childhood cancer, a PanCareLIFE study.

NPJ precision oncology

Meijer AJM, Diepstraten FA, Langer T, Broer L, Domingo IK, Clemens E, Uitterlinden AG, de Vries ACH, van Grotel M, Vermeij WP, Ozinga RA, Binder H, Byrne J, van Dulmen-den Broeder E, Garrè ML, Grabow D, Kaatsch P, Kaiser M, Kenborg L, Winther JF, Rechnitzer C, Hasle H, Kepak T, Kepakova K, Tissing WJE, van der Kooi ALF, Kremer LCM, Kruseova J, Pluijm SMF, Kuehni CE, van der Pal HJH, Parfitt R, Spix C, Tillmanns A, Deuster D, Matulat P, Calaminus G, Hoetink AE, Elsner S, Gebauer J, Haupt R, Lackner H, Blattmann C, Neggers SJCMM, Rassekh SR, Wright GEB, Brooks B, Nagtegaal AP, Drögemöller BI, Ross CJD, Bhavsar AP, Am Zehnhoff-Dinnesen AG, Carleton BC, Zolk O, van den Heuvel-Eibrink MM.
PMID: 34262104
NPJ Precis Oncol. 2021 Jul 14;5(1):64. doi: 10.1038/s41698-021-00178-z.

In children with cancer, the heterogeneity in ototoxicity occurrence after similar treatment suggests a role for genetic susceptibility. Using a genome-wide association study (GWAS) approach, we identified a genetic variant in TCERG1L (rs893507) to be associated with hearing loss...

Further Validation of the .

Child neurology open

Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK.
PMID: 28503617
Child Neurol Open. 2016 Sep 26;3:2329048X16669912. doi: 10.1177/2329048X16669912. eCollection 2016.

Distal hereditary motor neuropathies represent a group of rare genetic disorders characterized by progressive distal motor weakness without sensory loss. Their genetic heterogeneity is high and thus eligible for diagnostic whole exome sequencing. The authors report successful application of...

Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation.

Current pharmacogenomics and personalized medicine

Warnich L, Drögemöller BI, Pepper MS, Dandara C, Wright GE.
PMID: 22563365
Curr Pharmacogenomics Person Med. 2011 Sep;9(3):191-207. doi: 10.2174/187569211796957575.

South Africa, like many other developing countries, stands to benefit from novel diagnostics and drugs developed by pharmacogenomics guidance due to high prevalence of disease burden in the region. This includes both communicable (e.g., HIV/AIDS and tuberculosis) and non-communicable...

Characterization of the genetic variation present in CYP3A4 in three South African populations.

Frontiers in genetics

Drögemöller B, Plummer M, Korkie L, Agenbag G, Dunaiski A, Niehaus D, Koen L, Gebhardt S, Schneider N, Olckers A, Wright G, Warnich L.
PMID: 23423246
Front Genet. 2013 Feb 18;4:17. doi: 10.3389/fgene.2013.00017. eCollection 2013.

The CYP3A4 enzyme is the most abundant human cytochrome P450 (CYP) and is regarded as the most important enzyme involved in drug metabolism. Inter-individual and inter-population variability in gene expression and enzyme activity are thought to be influenced, in...

Showing 1 to 12 of 12 entries