Výsledky vyhledávání - "Suparna Martis"

Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection

Autor: Raymon Vijzelaar, Lisong Shi, Ruth Kornreich, Mariana R. Botton, Suparna Martis, Stuart A. Scott, Lisa Edelmann, Geetu Mendiratta, Yao Yang, Wanqiong Qiao, Andrea Gaedigk, Robert J. Desnick

Publikováno v: Pharmacogenomics. 20:9-20

Aim: To comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6 duplications. Methods: Genotyping of 16 CYP2D6 alleles, multiplex ligation-dependent probe a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20aa568c53fe17db8e1c1dbc18d24c50
https://doi.org/10.2217/pgs-2018-0135

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Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification

Autor: Raymon Vijzelaar, Stuart A. Scott, Lisette Stolk, Suparna Martis, Robert J. Desnick, Mariana R. Botton

Publikováno v: Pharmacogenomics. 19:761-770

Aim: To develop a SULT1A1 multiplex ligation-dependent probe amplification assay and to investigate multi-ethnic copy number variant frequencies. Methods: A novel multiplex ligation-dependent probe amplification assay was developed and tested on 472

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a387ddea978f1bb76c6e804e0575b03c
https://doi.org/10.2217/pgs-2018-0047

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Warfarin pharmacogenetics: A controlled dose–response study in healthy subjects

Autor: Robert J. Desnick, Steven A. Lubitz, Suparna Martis, Stuart A. Scott, Sarina A van der Zee, Daniella Kadian-Dodov, Dana Doheny, Jonathan L. Halperin, Elizabeth B. Rothlauf, Inga Peter

Publikováno v: Vascular Medicine. 18:290-297

The aim of this study was to determine how genetic variants contribute to warfarin dosing variability when non-genetic factors are controlled. Thirty healthy subjects were subjected to a warfarin dosing algorithm with daily international normalized r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f18ac16f9e365494ec5f9a1dd1d18777
https://doi.org/10.1177/1358863x13503193

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Frequency of the cholesteryl ester storage disease commonLIPAE8SJM mutation (c.894G>A) in various racial and ethnic groups

Autor: Robert J. Desnick, Suparna Martis, Yao Yang, Irina Nazarenko, Stuart A. Scott, Yumi Kasai, Tommy Hyatt, Benny Liu, Julia Kozlitina, Charina M. Ramirez, Inga Peter

Publikováno v: Hepatology. 58:958-965

Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive later-onset and severe infantile disorders, respectively, which result from the deficient activity of lysosomal acid lipase (LAL). LAL is encoded by LIPA (10q23.31) a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e09788a42862b4fadb5aaaa1df156d
https://doi.org/10.1002/hep.26327

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Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation

Autor: Stuart A. Scott, Robert J. Desnick, Hui Mei, Raymon Vijzelaar, Suparna Martis, Lisa Edelmann

Publikováno v: The pharmacogenomics journal

To determine the role of CYP450 copy number variation (CNV) beyond CYP2D6, 11 CYP450 genes were interrogated by multiplex ligation-dependent probe amplification and quantitative PCR in 542 African-American, Asian, Caucasian, Hispanic and Ashkenazi Je

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64f73234348caff19404dfed5b34e2c
https://doi.org/10.1038/tpj.2012.48

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Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes

Autor: Robert J. Desnick, Ruth Kornreich, Suparna Martis, Inga Peter, Stuart A. Scott, Jean-Sébastien Hulot

Publikováno v: The pharmacogenomics journal

To determine CYP2C19 and CYP2C8 allele frequencies, 28 coding and/or functional variants were genotyped in 1250 African-American, Asian, Caucasian, Hispanic and Ashkenazi Jewish (AJ) individuals. The combined CYP2C19 variant allele frequencies ranged

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef41c4e3c53293e0af0d51f188107dd
https://doi.org/10.1038/tpj.2012.10

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Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness

Autor: Stuart A. Scott, Yumi Kasai, Ruth Kornreich, Robert J. Desnick, Inga Peter, Suparna Martis

Publikováno v: The Pharmacogenomics Journal. 12:297-305

CYP2C19 is a principal enzyme involved in the bioactivation of the antiplatelet prodrug clopidogrel and common CYP2C19 loss-of-function alleles are associated with adverse cardiovascular events. To assess the impact of the CYP2C19*17 increased activi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8664805a4033f36bba34631749483f
https://doi.org/10.1038/tpj.2011.5

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Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU

Autor: Jonathan L. Halperin, Robert J. Desnick, Steven A. Lubitz, Lisa Edelmann, Sarina van der Zee, Manishkumar Patel, Stuart A. Scott, Suparna Martis, Chang Yoo

Publikováno v: Pharmacogenomics. 13(3)

Aim: To determine if copy number variants contribute to warfarin dose requirements, we investigated CYP2C9, VKORC1, CYP4F2, GGCX and CALU for deletions and duplications in a multiethnic patient population treated with therapeutic doses of warfarin. P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::000f1173ecd00420c076dbfaf3256ad0
https://pubmed.ncbi.nlm.nih.gov/22188360

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