Publications:

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: CYP27B1: L314L; rs8176345

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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Single Nucleotide Polymorphisms in 25-Hydroxyvitamin D3 1-Alpha-Hydroxylase (CYP27B1) Gene: The Risk of Malignant Tumors and Other Chronic Diseases.

Nutrients

Latacz, Maria M; Snarska, Jadwiga J; Kostyra, Elżbieta E; Fiedorowicz, Ewa E; Savelkoul, Huub Fj HF; Grzybowski, Roman R; Cieślińska, Anna A

Publication Date: 2020-03-18

Variant appearance in text: rs8176345

PubMed Link: 32197412

Variant Present in the following documents:

• Main text
• nutrients-12-00801.pdf

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: CYP27B1: L314L; rs8176345

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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DMET™ (Drug Metabolism Enzymes and Transporters): a pharmacogenomic platform for precision medicine.

Oncotarget

Arbitrio, Mariamena M; Di Martino, Maria Teresa MT; Scionti, Francesca F; Agapito, Giuseppe G; Guzzi, Pietro Hiram PH; Cannataro, Mario M; Tassone, Pierfrancesco P; Tagliaferri, Pierosandro P

Publication Date: 2016-08-16

Variant appearance in text: rs8176345

PubMed Link: 27304055

Variant Present in the following documents:

• Main text
• oncotarget-07-54028.pdf

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs8176345

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CYP27B1: L314L; rs8176345

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs8176345

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Impaired vitamin D activation and association with CYP24A1 haplotypes in differentiated thyroid carcinoma.

Thyroid : Official Journal Of The American Thyroid Association

Penna-Martinez, Marissa M; Ramos-Lopez, Elizabeth E; Stern, Julienne J; Kahles, Heinrich H; Hinsch, Nora N; Hansmann, Martin-Leo ML; Selkinski, Ivan I; Grünwald, Frank F; Vorländer, Christian C; Bechstein, Wolf O WO; Zeuzem, Stefan S; Holzer, Katharina K; Badenhoop, Klaus K

Publication Date: 2012-07

Variant appearance in text: rs8176345

PubMed Link: 22690899

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration.

Human Genomics

Morrison, Margaux A MA; Silveira, Alexandra C AC; Huynh, Nancy N; Jun, Gyungah G; Smith, Silvia E SE; Zacharaki, Fani F; Sato, Hajime H; Loomis, Stephanie S; Andreoli, Michael T MT; Adams, Scott M SM; Radeke, Monte J MJ; Jelcick, Austin S AS; Yuan, Yang Y; Tsiloulis, Aristoteles N AN; Chatzoulis, Dimitrios Z DZ; Silvestri, Giuliana G; Kotoula, Maria G MG; Tsironi, Evangelia E EE; Hollis, Bruce W BW; Chen, Rui R; Haider, Neena B NB; Miller, Joan W JW; Farrer, Lindsay A LA; Hageman, Gregory S GS; Kim, Ivana K IK; Schaumberg, Debra A DA; DeAngelis, Margaret M MM

Publication Date: 2011-10

Variant appearance in text: rs8176345

PubMed Link: 22155603

Variant Present in the following documents:

• Main text
• 1479-7364-5-6-538.pdf

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Contribution of a common variant in the promoter of the 1-α-hydroxylase gene (CYP27B1) to fracture risk in the elderly.

Calcified Tissue International

Clifton-Bligh, Roderick J RJ; Nguyen, Tuan V TV; Au, Amy A; Bullock, Martyn M; Cameron, Ian I; Cumming, Robert R; Chen, Jian Sheng JS; March, Lyn M LM; Seibel, Markus J MJ; Sambrook, Philip N PN

Publication Date: 2011-02

Variant appearance in text: rs8176345

PubMed Link: 21107545

Variant Present in the following documents:

• Main text
• 223_2010_Article_9434.pdf

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Confirmation of association between multiple sclerosis and CYP27B1.

European Journal Of Human Genetics : Ejhg

Sundqvist, Emilie E; Bäärnhielm, Maria M; Alfredsson, Lars L; Hillert, Jan J; Olsson, Tomas T; Kockum, Ingrid I

Publication Date: 2010-12

Variant appearance in text: rs8176345

PubMed Link: 20648053

Variant Present in the following documents:

• Main text

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Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.

Carcinogenesis

Ahn, Jiyoung J; Albanes, Demetrius D; Berndt, Sonja I SI; Peters, Ulrike U; Chatterjee, Nilanjan N; Freedman, Neal D ND; Abnet, Christian C CC; Huang, Wen-Yi WY; Kibel, Adam S AS; Crawford, E David ED; Weinstein, Stephanie J SJ; Chanock, Stephen J SJ; Schatzkin, Arthur A; Hayes, Richard B RB; ,

Publication Date: 2009-05

Variant appearance in text: rs8176345

PubMed Link: 19255064

Variant Present in the following documents:

• Main text

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Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes.

Diabetes

Bailey, Rebecca R; Cooper, Jason D JD; Zeitels, Lauren L; Smyth, Deborah J DJ; Yang, Jennie H M JH; Walker, Neil M NM; Hyppönen, Elina E; Dunger, David B DB; Ramos-Lopez, Elizabeth E; Badenhoop, Klaus K; Nejentsev, Sergey S; Todd, John A JA

Publication Date: 2007-10

Variant appearance in text: rs8176345

PubMed Link: 17606874

Variant Present in the following documents:

• Main text

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Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway.

Respiratory Research

Wjst, Matthias M; Altmüller, Janine J; Faus-Kessler, Theresia T; Braig, Christine C; Bahnweg, Margret M; André, Elisabeth E

Publication Date: 2006-04-06

Variant appearance in text: rs8176345

PubMed Link: 16600026

Variant Present in the following documents:

• Main text
• 1465-9921-7-60.pdf

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