Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: UGT1A3: M270V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.

Pharmaceutics

Dagli-Hernandez, Carolina C; Borges, Jéssica Bassani JB; Marçal, Elisangela da Silva Rodrigues EDSR; de Freitas, Renata Caroline Costa RCC; Mori, Augusto Akira AA; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; de Oliveira, Victor Fernandes VF; Ferreira, Glaucio Monteiro GM; Bastos, Gisele Medeiros GM; Zhou, Yitian Y; Lauschke, Volker M VM; Cerda, Alvaro A; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2022-04-27

Variant appearance in text: UGT1A3: 808A>G; Met270Val; rs45449995

PubMed Link: 35631530

Variant Present in the following documents:

• pharmaceutics-14-00944.pdf

View BVdb publication page

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Pharmacogenomic landscape of COVID-19 therapies from Indian population genomes.

Pharmacogenomics

Sahana, S S; Sivadas, Ambily A; Mangla, Mohit M; Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; Vidhya, A K AK; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; Devi, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya, J Ezhil JE; Devi, P Nirmala PN; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Prakash, Savinitha S; Joshi, Kandarp K; Kumla, Meya M; Sreedevi, S S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; Binukumar, B K BK; Sivasubbu, Sridhar S; Scaria, Vinod V

Publication Date: 2021-07

Variant appearance in text: rs45449995

PubMed Link: 34142560

Variant Present in the following documents:

• pgs-2021-0028.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: UGT1A6: 861+36069A>G; rs45449995

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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: UGT1A3: M270V

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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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: UGT1A3: 808A>G; Met270Val; rs45449995

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs45449995

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs45449995

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Clopidogrel but Not Prasugrel Significantly Inhibits the CYP2C8-Mediated Metabolism of Montelukast in Humans.

Clinical Pharmacology And Therapeutics

Itkonen, Matti K MK; Tornio, Aleksi A; Filppula, Anne M AM; Neuvonen, Mikko M; Neuvonen, Pertti J PJ; Niemi, Mikko M; Backman, Janne T JT

Publication Date: 2018-09

Variant appearance in text: rs45449995

PubMed Link: 29171020

Variant Present in the following documents:

• Main text
• CPT-104-495.pdf

View BVdb publication page

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Comprehensive Pharmacogenomic Study Reveals an Important Role of UGT1A3 in Montelukast Pharmacokinetics.

Clinical Pharmacology And Therapeutics

Hirvensalo, Päivi P; Tornio, Aleksi A; Neuvonen, Mikko M; Tapaninen, Tuija T; Paile-Hyvärinen, Maria M; Kärjä, Vesa V; Männistö, Ville T VT; Pihlajamäki, Jussi J; Backman, Janne T JT; Niemi, Mikko M

Publication Date: 2018-07

Variant appearance in text: UGT1A3: 808A>G; Met270Val; rs45449995

PubMed Link: 28940478

Variant Present in the following documents:

• Main text
• CPT-104-158.pdf
• CPT-104-158-s007.pdf

View BVdb publication page

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The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Bladder Cancer (Amsterdam, Netherlands)

Hoffmann, Michèle J MJ; Koutsogiannouli, Evangelia E; Skowron, Margaretha A MA; Pinkerneil, Maria M; Niegisch, Günter G; Brandt, Artur A; Stepanow, Stefanie S; Rieder, Harald H; Schulz, Wolfgang A WA

Publication Date: 2016-10-27

Variant appearance in text: UGT1A3: M270V; rs45449995

PubMed Link: 28035326

Variant Present in the following documents:

• blc-2-blc160065-s001.xlsx, sheet 2

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: UGT1A3: 808A>G; Met270Val; rs45449995

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs45449995

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: UGT1A3: M270V; rs45449995

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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: UGT1A3: M270V; rs45449995

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.

Human Molecular Genetics

Tang, Wei W; Fu, Yi-Ping YP; Figueroa, Jonine D JD; Malats, Núria N; Garcia-Closas, Montserrat M; Chatterjee, Nilanjan N; Kogevinas, Manolis M; Baris, Dalsu D; Thun, Michael M; Hall, Jennifer L JL; De Vivo, Immaculata I; Albanes, Demetrius D; Porter-Gill, Patricia P; Purdue, Mark P MP; Burdett, Laurie L; Liu, Luyang L; Hutchinson, Amy A; Myers, Timothy T; Tardón, Adonina A; Serra, Consol C; Carrato, Alfredo A; Garcia-Closas, Reina R; Lloreta, Josep J; Johnson, Alison A; Schwenn, Molly M; Karagas, Margaret R MR; Schned, Alan A; Black, Amanda A; Jacobs, Eric J EJ; Diver, W Ryan WR; Gapstur, Susan M SM; Virtamo, Jarmo J; Hunter, David J DJ; Fraumeni, Joseph F JF; Chanock, Stephen J SJ; Silverman, Debra T DT; Rothman, Nathaniel N; Prokunina-Olsson, Ludmila L

Publication Date: 2012-04-15

Variant appearance in text: rs45449995

PubMed Link: 22228101

Variant Present in the following documents:

• Main text

View BVdb publication page

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