Publications:

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Obesity as a Risk Factor for Breast Cancer-The Role of miRNA.

International Journal Of Molecular Sciences

Hanusek, Karolina K; Karczmarski, Jakub J; Litwiniuk, Anna A; Urbańska, Katarzyna K; Ambrozkiewicz, Filip F; Kwiatkowski, Andrzej A; Martyńska, Lidia L; Domańska, Anita A; Bik, Wojciech W; Paziewska, Agnieszka A

Publication Date: 2022-12-10

Variant appearance in text: aromatase: R264C

PubMed Link: 36555323

Variant Present in the following documents:

• ijms-23-15683.pdf

View BVdb publication page

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Association of CYP19A1 rs28757157 polymorphism with lung cancer risk in the Chinese Han population.

World Journal Of Surgical Oncology

Zhang, Chan C; Cheng, Yujing Y; Chen, Wanlu W; Li, Qi Q; Dai, Run R; Wang, Yajie Y; Yang, Tonghua T

Publication Date: 2022-12-16

Variant appearance in text: CYP19A1: R264C

PubMed Link: 36527059

Variant Present in the following documents:

• 12957_2022_Article_2868.pdf

View BVdb publication page

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Loss of Protein Stability and Function Caused by P228L Variation in NADPH-Cytochrome P450 Reductase Linked to Lower Testosterone Levels.

International Journal Of Molecular Sciences

Rojas Velazquez, Maria Natalia MN; Noebauer, Mathias M; Pandey, Amit V AV

Publication Date: 2022-09-04

Variant appearance in text: CYP19A1: R264C

PubMed Link: 36077536

Variant Present in the following documents:

• ijms-23-10141.pdf

View BVdb publication page

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Pharmacogenetics of Breast Cancer Treatments: A Sub-Saharan Africa Perspective.

Pharmacogenomics And Personalized Medicine

Nthontho, Keneuoe Cecilia KC; Ndlovu, Andrew Khulekani AK; Sharma, Kirthana K; Kasvosve, Ishmael I; Hertz, Daniel Louis DL; Paganotti, Giacomo Maria GM

Publication Date: 2022

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 35761855

Variant Present in the following documents:

• Main text
• pgpm-15-613.pdf

View BVdb publication page

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The inhibition of tamoxifen on UGT2B gene expression and enzyme activity in rat liver contribute to the estrogen homeostasis dysregulation.

Bmc Pharmacology & Toxicology

Hao, Zhixiang Z; Xu, Jiahao J; Zhao, Han H; Zhou, Wei W; Liu, Zhao Z; He, Shiqing S; Yin, Xiaoxing X; Zhang, Bei B; Wang, Zhongjian Z; Zhou, Xueyan X

Publication Date: 2022-05-31

Variant appearance in text: CYP19: R264C

PubMed Link: 35642027

Variant Present in the following documents:

• 40360_2022_Article_574.pdf

View BVdb publication page

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Molecular Lego of Human Cytochrome P450: The Key Role of Heme Domain Flexibility for the Activity of the Chimeric Proteins.

International Journal Of Molecular Sciences

Catucci, Gianluca G; Ciaramella, Alberto A; Di Nardo, Giovanna G; Zhang, Chao C; Castrignanò, Silvia S; Gilardi, Gianfranco G

Publication Date: 2022-03-25

Variant appearance in text: ARO: R264C

PubMed Link: 35408976

Variant Present in the following documents:

• Main text
• ijms-23-03618.pdf

View BVdb publication page

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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: CYP19A1: R264C; rs700519

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

Nature Communications

He, Chen C; Xu, Ke K; Zhu, Xiaoyan X; Dunphy, Paige S PS; Gudenas, Brian B; Lin, Wenwei W; Twarog, Nathaniel N; Hover, Laura D LD; Kwon, Chang-Hyuk CH; Kasper, Lawryn H LH; Zhang, Junyuan J; Li, Xiaoyu X; Dalton, James J; Jonchere, Barbara B; Mercer, Kimberly S KS; Currier, Duane G DG; Caufield, William W; Wang, Yingzhe Y; Xie, Jia J; Broniscer, Alberto A; Wetmore, Cynthia C; Upadhyaya, Santhosh A SA; Qaddoumi, Ibrahim I; Klimo, Paul P; Boop, Frederick F; Gajjar, Amar A; Zhang, Jinghui J; Orr, Brent A BA; Robinson, Giles W GW; Monje, Michelle M; Freeman Iii, Burgess B BB; Roussel, Martine F MF; Northcott, Paul A PA; Chen, Taosheng T; Rankovic, Zoran Z; Wu, Gang G; Chiang, Jason J; Tinkle, Christopher L CL; Shelat, Anang A AA; Baker, Suzanne J SJ

Publication Date: 2021-07-02

Variant appearance in text: CYP19A1: R264C

PubMed Link: 34215733

Variant Present in the following documents:

• 41467_2021_24168_MOESM5_ESM.xlsx, sheet 5

View BVdb publication page

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Estrogen/ER in anti-tumor immunity regulation to tumor cell and tumor microenvironment.

Cancer Cell International

Wang, Tiecheng T; Jin, Jiakang J; Qian, Chao C; Lou, Jianan J; Lin, Jinti J; Xu, Ankai A; Xia, Kaishun K; Jin, Libin L; Liu, Bing B; Tao, Huimin H; Yang, Zhengming Z; Yu, Wei W

Publication Date: 2021-06-07

Variant appearance in text: CYP19A1: R264C

PubMed Link: 34098945

Variant Present in the following documents:

• 12935_2021_Article_2003.pdf

View BVdb publication page

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The CYP19A1 (TTTA)n Repeat Polymorphism May Affect the Prostate Cancer Risk: Evidence from a Meta-Analysis.

American Journal Of Men'S Health

Guo, Lei L; Liu, Yanan Y; Liu, Lijun L; Shao, Shixiu S; Cao, Yanwei Y; Guo, Jiaming J; Niu, Haitao H

Publication Date: 2021

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 34036824

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis.

Molecular Genetics & Genomic Medicine

Alwan, Ahmad Mohammed AM; Afzaljavan, Fahimeh F; Tavakol Afshari, Jalil J; Homaei Shandiz, Fatemeh F; Barati Bagherabad, Matineh M; Vahednia, Elham E; Kheradmand, Nahid N; Pasdar, Alireza A

Publication Date: 2021-07

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 34014013

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis.

Molecular Genetics & Genomic Medicine

Alwan, Ahmad Mohammed AM; Afzaljavan, Fahimeh F; Tavakol Afshari, Jalil J; Homaei Shandiz, Fatemeh F; Barati Bagherabad, Matineh M; Vahednia, Elham E; Kheradmand, Nahid N; Pasdar, Alireza A

Publication Date: 2021-07

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 34014013

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphism on human aromatase affects protein dynamics and substrate binding: spectroscopic evidence.

Biology Direct

Di Nardo, Giovanna G; Di Venere, Almerinda A; Zhang, Chao C; Nicolai, Eleonora E; Castrignanò, Silvia S; Di Paola, Luisa L; Gilardi, Gianfranco G; Mei, Giampiero G

Publication Date: 2021-04-26

Variant appearance in text: aromatase: R264C; rs700519

PubMed Link: 33902660

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China.

Clinical, Cosmetic And Investigational Dermatology

Yang, Ting T; Wu, Wen-Juan WJ; Tian, Li-Ming LM; Zhang, Deng-Feng DF; Yang, Xiao-Yan XY; Qi, Jue J; Tu, Ying Y; He, Li L

Publication Date: 2021

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 33824600

Variant Present in the following documents:

• Main text
• ccid-14-313.pdf

View BVdb publication page

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Discovery of breast cancer risk genes and establishment of a prediction model based on estrogen metabolism regulation.

Bmc Cancer

Zhao, Feng F; Hao, Zhixiang Z; Zhong, Yanan Y; Xu, Yinxue Y; Guo, Meng M; Zhang, Bei B; Yin, Xiaoxing X; Li, Ying Y; Zhou, Xueyan X

Publication Date: 2021-02-25

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 33632172

Variant Present in the following documents:

• Main text
• 12885_2021_Article_7896.pdf

View BVdb publication page

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Genetic Variation and Hot Flashes: A Systematic Review.

The Journal Of Clinical Endocrinology And Metabolism

Crandall, Carolyn J CJ; Diamant, Allison L AL; Maglione, Margaret M; Thurston, Rebecca C RC; Sinsheimer, Janet J

Publication Date: 2020-12-01

Variant appearance in text: CYP19: Arg264Cys; rs700519

PubMed Link: 32797194

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular Basis for Endocrine Disruption by Pesticides Targeting Aromatase and Estrogen Receptor.

International Journal Of Environmental Research And Public Health

Zhang, Chao C; Schilirò, Tiziana T; Gea, Marta M; Bianchi, Silvia S; Spinello, Angelo A; Magistrato, Alessandra A; Gilardi, Gianfranco G; Di Nardo, Giovanna G

Publication Date: 2020-08-05

Variant appearance in text: CYP19: R264C

PubMed Link: 32764486

Variant Present in the following documents:

• ijerph-17-05664.pdf

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identifying genes associated with the development of human polycystic ovary syndrome.

Saudi Journal Of Biological Sciences

Saddick, Salina Y SY

Publication Date: 2020-05

Variant appearance in text: aromatase: Arg264Cys

PubMed Link: 32346335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.

Journal Of The Endocrine Society

Praveen, Valiyaparambil Pavithran VP; Ladjouze, Asmahane A; Sauter, Kay-Sara KS; Pulickal, Annie A; Katharopoulos, Efstathios E; Trippel, Mafalda M; Perren, Aurel A; Pandey, Amit V AV; Flück, Christa E CE

Publication Date: 2020-04-01

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 32318648

Variant Present in the following documents:

• Main text
• bvaa030.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: CYP19A1: R264C

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: CYP19A1: 790C>T; Arg264Cys; rs700519

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Polycystic ovary syndrome (PCOS) and genetic predisposition: A review article.

European Journal Of Obstetrics & Gynecology And Reproductive Biology: X

Ajmal, Nida N; Khan, Sanam Zeib SZ; Shaikh, Rozeena R

Publication Date: 2019-07

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 31403134

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Pharmacogenomic Biomarkers in Docetaxel Treatment of Prostate Cancer: From Discovery to Implementation.

Genes

Varnai, Reka R; Koskinen, Leena M LM; Mäntylä, Laura E LE; Szabo, Istvan I; FitzGerald, Liesel M LM; Sipeky, Csilla C

Publication Date: 2019-08-08

Variant appearance in text: CYP19: R264C; rs700519

PubMed Link: 31398933

Variant Present in the following documents:

• Main text
• genes-10-00599.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CYP19A1: 790C>T; Arg264Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: CYP19A1: R264C

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Reports

Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL

Publication Date: 2018-08-21

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 30134176

Variant Present in the following documents:

• NIHMS1520774-supplement-Table_S2.xlsx, sheet 1

View BVdb publication page

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology.

Genetics Research International

Dadachanji, Roshan R; Shaikh, Nuzhat N; Mukherjee, Srabani S

Publication Date: 2018

Variant appearance in text: aromatase: Arg264Cys

PubMed Link: 29670770

Variant Present in the following documents:

• Main text
• GRI2018-7624932.pdf

View BVdb publication page

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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

View BVdb publication page

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Gallbladder cancer epidemiology, pathogenesis and molecular genetics: Recent update.

World Journal Of Gastroenterology

Sharma, Aarti A; Sharma, Kiran Lata KL; Gupta, Annapurna A; Yadav, Alka A; Kumar, Ashok A

Publication Date: 2017-06-14

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 28652652

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exemestane potency is unchanged by common nonsynonymous polymorphisms in CYP19A1: results of a novel anti-aromatase activity assay examining exemestane and its derivatives.

Pharmacology Research & Perspectives

Peterson, Amity A; Xia, Zuping Z; Chen, Gang G; Lazarus, Philip P

Publication Date: 2017-06

Variant appearance in text: aromatase: Arg264Cys

PubMed Link: 28603632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects.

Drug Design, Development And Therapy

Woo, Hye In HI; Kim, Suk Ran SR; Huh, Wooseong W; Ko, Jae-Wook JW; Lee, Soo-Youn SY

Publication Date: 2017

Variant appearance in text: CYP19A1: 790C>T; Arg264Cys; rs700519

PubMed Link: 28435225

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline genetic predictors of aromatase inhibitor concentrations, estrogen suppression and drug efficacy and toxicity in breast cancer patients.

Pharmacogenomics

Hertz, Daniel L DL; Henry, N Lynn NL; Rae, James M JM

Publication Date: 2017-04

Variant appearance in text: aromatase: Arg264Cys; rs700519

PubMed Link: 28346074

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular basis for prostate cancer racial disparities.

Frontiers In Bioscience (Landmark Edition)

Singh, Santosh K SK; Lillard, James W JW; Singh, Rajesh R

Publication Date: 2017-01-01

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 27814623

Variant Present in the following documents:

• Main text

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: CYP19A1: R264C

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans.

Journal Of Clinical Research In Pediatric Endocrinology

Akçurin, Sema S; Türkkahraman, Doğa D; Kim, Woo Young WY; Durmaz, Erdem E; Shin, Jae Gook JG; Lee, Su Jun SJ

Publication Date: 2016-06-05

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 27086564

Variant Present in the following documents:

• JCRPE-8-205.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CYP19A1: R264C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: CYP19A1: 790C>T; rs700519

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 2
• 40246_2015_34_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic polymorphisms in estrogen-related genes and the risk of breast cancer among Han Chinese women.

International Journal Of Molecular Sciences

Sun, Min-Ying MY; Du, Hong-Yan HY; Zhu, An-Na AN; Liang, Hui-Ying HY; de Garibay, Gorka Ruiz GR; Li, Fen-Xia FX; Li, Ming M; Yang, Xue-Xi XX

Publication Date: 2015-02-13

Variant appearance in text: CYP19: Arg264Cys; rs700519

PubMed Link: 25689428

Variant Present in the following documents:

• Main text
• ijms-16-04121.pdf

View BVdb publication page

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Genetic variation in estrogen and progesterone pathway genes and breast cancer risk: an exploration of tumor subtype-specific effects.

Cancer Causes & Control : Ccc

Nyante, Sarah J SJ; Gammon, Marilie D MD; Kaufman, Jay S JS; Bensen, Jeannette T JT; Lin, Dan Yu DY; Barnholtz-Sloan, Jill S JS; Hu, Yijuan Y; He, Qianchuan Q; Luo, Jingchun J; Millikan, Robert C RC

Publication Date: 2015-01

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 25421376

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CYP19A1: R264C; rs700519

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: CYP19A1: R264C

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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Association of CYP19 polymorphisms with breast cancer risk: A case-control study.

Journal Of Natural Science, Biology, And Medicine

Surekha, Damineni D; Sailaja, Kagitha K; Rao, Dunna Nageswara DN; Padma, Tirunalai T; Raghunadharao, Digumarthi D; Vishnupriya, Satti S

Publication Date: 2014-07

Variant appearance in text: CYP19: R264C

PubMed Link: 25097392

Variant Present in the following documents:

• Main text
• JNSBM-5-250.pdf

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One

Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S

Publication Date: 2013

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 24340040

Variant Present in the following documents:

• pone.0082562.s002.xlsx, sheet 1

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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The sex-specific associations of the aromatase gene with Alzheimer's disease and its interaction with IL10 in the Epistasis Project.

European Journal Of Human Genetics : Ejhg

Medway, Christopher C; Combarros, Onofre O; Cortina-Borja, Mario M; Butler, Helen T HT; Ibrahim-Verbaas, Carla A CA; de Bruijn, Renée F A G RF; Koudstaal, Peter J PJ; van Duijn, Cornelia M CM; Ikram, M Arfan MA; Mateo, Ignacio I; Sánchez-Juan, Pascual P; Lehmann, Michael G MG; Heun, Reinhard R; Kölsch, Heike H; Deloukas, Panos P; Hammond, Naomi N; Coto, Eliecer E; Alvarez, Victoria V; Kehoe, Patrick G PG; Barber, Rachel R; Wilcock, Gordon K GK; Brown, Kristelle K; Belbin, Olivia O; Warden, Donald R DR; Smith, A David AD; Morgan, Kevin K; Lehmann, Donald J DJ

Publication Date: 2014-02

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 23736221

Variant Present in the following documents:

• Main text

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Ethnical disparities of prostate cancer predisposition: genetic polymorphisms in androgen-related genes.

American Journal Of Cancer Research

Li, Jie J; Mercer, Emma E; Gou, Xin X; Lu, Yong-Jie YJ

Publication Date: 2013

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 23593537

Variant Present in the following documents:

• Main text

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Impact of aromatase genetic variation on hormone levels and global outcome after severe TBI.

Journal Of Neurotrauma

Garringer, Julie A JA; Niyonkuru, Christian C; McCullough, Emily H EH; Loucks, Tammy T; Dixon, C Edward CE; Conley, Yvette P YP; Berga, Sarah S; Wagner, Amy K AK

Publication Date: 2013-08-15

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 23540392

Variant Present in the following documents:

• Main text

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Functional analyses of endometriosis-related polymorphisms in the estrogen synthesis and metabolism-related genes.

Plos One

Wang, Hsin-Shih HS; Wu, Hsien-Ming HM; Cheng, Bi-Hwa BH; Yen, Chih-Feng CF; Chang, Pi-Yueh PY; Chao, Angel A; Lee, Yun-Shien YS; Huang, Hsien-Da HD; Wang, Tzu-Hao TH

Publication Date: 2012

Variant appearance in text: CYP19: Arg264Cys; rs700519

PubMed Link: 23139742

Variant Present in the following documents:

• Main text
• pone.0047374.pdf

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A non-synonymous coding change in the CYP19A1 gene Arg264Cys (rs700519) does not affect circulating estradiol, bone structure or fracture.

Bmc Medical Genetics

Wang, Jenny Z JZ; Deogan, Mandeep S MS; Lewis, Joshua R JR; Chew, Shelby S; Mullin, Ben H BH; McNab, Tegan J TJ; Wilson, Scott G SG; Ingley, Evan E; Prince, Richard L RL

Publication Date: 2011-12-20

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 22185650

Variant Present in the following documents:

• Main text

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Aromatase activity and bone loss in men.

Journal Of Osteoporosis

Merlotti, Daniela D; Gennari, Luigi L; Stolakis, Konstantinos K; Nuti, Ranuccio R

Publication Date: 2011

Variant appearance in text: aromatase: Arg264Cys

PubMed Link: 21772971

Variant Present in the following documents:

• Main text
• JOSTEO2011-230671.pdf

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Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

Mutation Research

Srivastava, Kshitij K; Srivastava, Anvesha A; Sharma, Kiran Lata KL; Mittal, Balraj B

Publication Date: 2011

Variant appearance in text: CYP19A1: Arg264Cys; rs700519

PubMed Link: 21708280

Variant Present in the following documents:

• Main text

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Aromatase gene polymorphisms are associated with survival among patients with cardiovascular disease in a sex-specific manner.

Plos One

Beitelshees, Amber L AL; Johnson, Julie A JA; Hames, Megan L ML; Gong, Yan Y; Cooper-Dehoff, Rhonda M RM; Wu, Jun J; Cresci, Sharon S; Ma, Cynthia X CX; Pepine, Carl J CJ; Province, Michael A MA; Spertus, John A JA; McLeod, Howard L HL

Publication Date: 2010-12-10

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 21170323

Variant Present in the following documents:

• Main text
• pone.0015180.pdf

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Estrogen receptor α and aromatase polymorphisms affect risk, prognosis, and therapeutic outcome in men with castration-resistant prostate cancer treated with docetaxel-based therapy.

The Journal Of Clinical Endocrinology And Metabolism

Sissung, Tristan M TM; Danesi, Romano R; Kirkland, C Tyler CT; Baum, Caitlin E CE; Ockers, Sandra B SB; Stein, Erica V EV; Venzon, David D; Price, Douglas K DK; Figg, William D WD

Publication Date: 2011-02

Variant appearance in text: CYP19: R264C; rs700519

PubMed Link: 21106711

Variant Present in the following documents:

• Main text

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Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights

Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE

Publication Date: 2010-10-11

Variant appearance in text: CYP19A1: R264C

PubMed Link: 20981267

Variant Present in the following documents:

• BBI-4-supplementary.xls, sheet 4

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Effect of hormone metabolism genotypes on steroid hormone levels and menopausal symptoms in a prospective population-based cohort of women experiencing the menopausal transition.

Menopause (New York, N.Y.)

Rebbeck, Timothy R TR; Su, H Irene HI; Sammel, Mary D MD; Lin, Hui H; Tran, Teo V TV; Gracia, Clarisa R CR; Freeman, Ellen W EW

Publication Date: 2010

Variant appearance in text: CYP19: Arg264Cys; rs700519

PubMed Link: 20505544

Variant Present in the following documents:

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Association of estrogen and aromatase gene polymorphisms with systemic lupus erythematosus.

Lupus

Wang, J J; Nuite, M M; McAlindon, T E TE

Publication Date: 2010-05

Variant appearance in text: aromatase: Arg264Cys; rs700519

PubMed Link: 20305046

Variant Present in the following documents:

• Main text

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An aromatase polymorphism modulates the relationship between weight and estradiol levels in obese men.

Fertility And Sterility

Hammoud, Ahmad A; Carrell, Douglas T DT; Meikle, A Wayne AW; Xin, Yuanpei Y; Hunt, Steven C SC; Adams, Ted D TD; Gibson, Mark M

Publication Date: 2010-10

Variant appearance in text: aromatase: Arg264Cys

PubMed Link: 20004389

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• Main text

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CYP19A1 genetic variation in relation to prostate cancer risk and circulating sex hormone concentrations in men from the Breast and Prostate Cancer Cohort Consortium.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Travis, Ruth C RC; Schumacher, Fredrick F; Hirschhorn, Joel N JN; Kraft, Peter P; Allen, Naomi E NE; Albanes, Demetrius D; Berglund, Goran G; Berndt, Sonja I SI; Boeing, Heiner H; Bueno-de-Mesquita, H Bas HB; Calle, Eugenia E EE; Chanock, Stephen S; Dunning, Alison M AM; Hayes, Richard R; Feigelson, Heather Spencer HS; Gaziano, J Michael JM; Giovannucci, Edward E; Haiman, Christopher A CA; Henderson, Brian E BE; Kaaks, Rudolf R; Kolonel, Laurence N LN; Ma, Jing J; Rodriguez, Laudina L; Riboli, Elio E; Stampfer, Meir M; Stram, Daniel O DO; Thun, Michael J MJ; Tjønneland, Anne A; Trichopoulos, Dimitrios D; Vineis, Paolo P; Virtamo, Jarmo J; Le Marchand, Loïc L; Hunter, David J DJ

Publication Date: 2009-10

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 19789370

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Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.

Carcinogenesis

Park, Sue K SK; Andreotti, Gabriella G; Sakoda, Lori C LC; Gao, Yu-Tang YT; Rashid, Asif A; Chen, Jinbo J; Chen, Bingshu E BE; Rosenberg, Philip S PS; Shen, Ming-Chang MC; Wang, Bing-Sheng BS; Han, Tian-Quan TQ; Zhang, Bai-He BH; Yeager, Meredith M; Chanock, Stephen S; Hsing, Ann W AW

Publication Date: 2009-04

Variant appearance in text: CYP19A1: R264C; rs700519

PubMed Link: 19168589

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• Main text

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