Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs4149182

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: SLC22A8: 437+79G>C; rs4149182

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs4149182

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort.

Cells

Vávra, Jiří J; Mančíková, Andrea A; Pavelcová, Kateřina K; Hasíková, Lenka L; Bohatá, Jana J; Stibůrková, Blanka B

Publication Date: 2022-03-22

Variant appearance in text: SLC22A8: 437+79G>C; rs4149182

PubMed Link: 35406626

Variant Present in the following documents:

• Main text
• cells-11-01063.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: SLC22A8: 437+79G>C; rs4149182

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: SLC22A8: 437+79G>C; rs4149182

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Genetic Polymorphisms in Multispecific Transporters Mitigate Mercury Nephrotoxicity in an Artisanal and Small-Scale Gold Mining Community in Colombia.

Toxicological Sciences : An Official Journal Of The Society Of Toxicology

Sánchez Rodríguez, Luz Helena LH; Medina Pérez, Olga Marcela OM; Rondón González, Fernando F; Rincón Cruz, Giovanna G; Rocha Muñoz, Linda L; Flórez-Vargas, Oscar O

Publication Date: 2020-12-01

Variant appearance in text: rs4149182

PubMed Link: 32946573

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SLC22A8: 437+79G>C; rs4149182

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs4149182

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genetic Aspects of Susceptibility to Mercury Toxicity: An Overview.

International Journal Of Environmental Research And Public Health

Andreoli, Virginia V; Sprovieri, Francesca F

Publication Date: 2017-01-18

Variant appearance in text: rs4149182

PubMed Link: 28106810

Variant Present in the following documents:

• Main text
• ijerph-14-00093.pdf

View BVdb publication page

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Genome Analysis of Osteosarcoma Progression Samples Identifies FGFR1 Overexpression as a Potential Treatment Target and CHM as a Candidate Tumor Suppressor Gene.

Plos One

Barøy, Tale T; Chilamakuri, Chandra S R CS; Lorenz, Susanne S; Sun, Jinchang J; Bruland, Øyvind S ØS; Myklebost, Ola O; Meza-Zepeda, Leonardo A LA

Publication Date: 2016

Variant appearance in text: rs4149182

PubMed Link: 27685995

Variant Present in the following documents:

• pone.0163859.s005.xlsx, sheet 1

View BVdb publication page

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Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.

Toxicological Research

Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ

Publication Date: 2016-07

Variant appearance in text: rs4149182

PubMed Link: 27437086

Variant Present in the following documents:

• Main text
• tr-32-195.pdf

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Genetic polymorphisms are associated with hair, blood, and urine mercury levels in the American Dental Association (ADA) study participants.

Environmental Research

Parajuli, Rajendra Prasad RP; Goodrich, Jaclyn M JM; Chou, Hwai-Nan HN; Gruninger, Stephen E SE; Dolinoy, Dana C DC; Franzblau, Alfred A; Basu, Niladri N

Publication Date: 2016-08

Variant appearance in text: rs4149182

PubMed Link: 26673400

Variant Present in the following documents:

• Main text

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High imatinib dose overcomes insufficient response associated with ABCG2 haplotype in chronic myelogenous leukemia patients.

Oncotarget

Delord, Marc M; Rousselot, Philippe P; Cayuela, Jean Michel JM; Sigaux, François F; Guilhot, Joëlle J; Preudhomme, Claude C; Guilhot, François F; Loiseau, Pascale P; Raffoux, Emmanuel E; Geromin, Daniela D; Génin, Emmanuelle E; Calvo, Fabien F; Bruzzoni-Giovanelli, Heriberto H

Publication Date: 2013-10

Variant appearance in text: rs4149182

PubMed Link: 24123600

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in genes encoding potential mercury transporters and urine mercury concentrations in populations exposed to mercury vapor from gold mining.

Environmental Health Perspectives

Engström, Karin K; Ameer, Shegufta S; Bernaudat, Ludovic L; Drasch, Gustav G; Baeuml, Jennifer J; Skerfving, Staffan S; Bose-O'Reilly, Stephan S; Broberg, Karin K

Publication Date: 2013-01

Variant appearance in text: rs4149182

PubMed Link: 23052037

Variant Present in the following documents:

• Main text
• ehp.1204951.pdf

View BVdb publication page

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