Publications:

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Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: SLCO1B1: Asn432Asp

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: SLCO1B1: N432D

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM2_ESM.xlsx, sheet 1

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: SLCO1B1: 1294A>G; N432D; rs56387224

PubMed Link: 34621706

Variant Present in the following documents:

• Main text
• tcp-29-135-s001.xls, sheet 1
• tcp-29-135.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: SLCO1B1: 1294A>G; N432D; rs56387224

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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Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics

Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE

Publication Date: 2020-01

Variant appearance in text: rs56387224

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

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Organic Anion Transporting Polypeptides: Emerging Roles in Cancer Pharmacology.

Molecular Pharmacology

Schulte, Rachael R RR; Ho, Richard H RH

Publication Date: 2019-05

Variant appearance in text: SLCO1B1: 1294A>G; rs56387224

PubMed Link: 30782852

Variant Present in the following documents:

• Main text

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: rs56387224

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Interindividual and interethnic variability in drug disposition: polymorphisms in organic anion transporting polypeptide 1B1 (OATP1B1; SLCO1B1).

British Journal Of Clinical Pharmacology

Lee, Hannah H HH; Ho, Richard H RH

Publication Date: 2017-06

Variant appearance in text: SLCO1B1: 1294A>G; rs56387224

PubMed Link: 27936281

Variant Present in the following documents:

• Main text

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: rs56387224

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: SLCO1B1: N432D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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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: rs56387224

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Hormone metabolism pathway genes and mammographic density change after quitting estrogen and progestin combined hormone therapy in the California Teachers Study.

Breast Cancer Research : Bcr

Lee, Eunjung E; Luo, Jianning J; Su, Yu-Chen YC; Lewinger, Juan Pablo JP; Schumacher, Fredrick R FR; Van Den Berg, David D; Wu, Anna H AH; Bernstein, Leslie L; Ursin, Giske G

Publication Date: 2014-12-11

Variant appearance in text: SLCO1B1: Asn432Asp; rs56387224

PubMed Link: 25499601

Variant Present in the following documents:

• Main text
• 13058_2014_Article_477.pdf

View BVdb publication page

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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: rs56387224

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies.

Leukemia Research And Treatment

Fukushima, Hiroko H; Fukushima, Takashi T; Sakai, Aiko A; Suzuki, Ryoko R; Nakajima-Yamaguchi, Ryoko R; Kobayashi, Chie C; Iwabuchi, Atsushi A; Saito, Makoto M; Yoshimi, Ai A; Nakao, Tomohei T; Kato, Keisuke K; Tsuchida, Masahiro M; Takahashi, Hideto H; Koike, Kazutoshi K; Kiyokawa, Nobutaka N; Noguchi, Emiko E; Sumazaki, Ryo R

Publication Date: 2013

Variant appearance in text: SLCO1B1: N432D

PubMed Link: 24386571

Variant Present in the following documents:

• Main text
• LRT2013-238528.pdf

View BVdb publication page

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Human pharmacogenomic variations and their implications for antifungal efficacy.

Clinical Microbiology Reviews

Meletiadis, Joseph J; Chanock, Stephen S; Walsh, Thomas J TJ

Publication Date: 2006-10

Variant appearance in text: SLCO1B1: Asn432Asp

PubMed Link: 17041143

Variant Present in the following documents:

• Main text

View BVdb publication page

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