Publications:

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Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.

Frontiers In Pharmacology

Xie, Shuying S; Wei, Shizhang S; Ma, Xiao X; Wang, Ruilin R; He, Tingting T; Zhang, Zhao Z; Yang, Ju J; Wang, Jiawei J; Chang, Lei L; Jing, Manyi M; Li, Haotian H; Zhou, Xuelin X; Zhao, Yanling Y

Publication Date: 2023

Variant appearance in text: ABCC2: Q1382R

PubMed Link: 37324459

Variant Present in the following documents:

• Main text
• fphar-14-1173542.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ABCC2: 4145A>G; Gln1382Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Neonatal Dubin-Johnson Syndrome and its Differentiation from Biliary Atresia.

Journal Of Clinical And Translational Hepatology

Liu, Teng T; Zhao, Jing J; Feng, Jia-Yan JY; Lu, Yi Y; Sheps, Jonathan A JA; Wang, Ren-Xue RX; Han, Jun J; Ling, Victor V; Wang, Jian-She JS

Publication Date: 2023-02-28

Variant appearance in text: ABCC2: 4145A>G

PubMed Link: 36406324

Variant Present in the following documents:

• Main text
• JCTH-11-163.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCC2: 4145A>G; Gln1382Arg; rs72558202

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: ABCC2: 4145A>G; Gln1382Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.

Orphanet Journal Of Rare Diseases

Wu, Lina L; Li, Yanmeng Y; Song, Yi Y; Zhou, Donghu D; Jia, Siyu S; Xu, Anjian A; Zhang, Wei W; You, Hong H; Jia, Jidong J; Huang, Jian J; Ou, Xiaojuan X

Publication Date: 2020-03-18

Variant appearance in text: ABCC2: Q1382R

PubMed Link: 32183854

Variant Present in the following documents:

• Main text

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Genetic Diversity in Drug Transporters: Impact in African Populations.

Clinical And Translational Science

Rajman, Iris I; Knapp, Laura L; Hanna, Imad I

Publication Date: 2020-09

Variant appearance in text: ABCC2: Q1382R

PubMed Link: 32100958

Variant Present in the following documents:

• Main text
• CTS-13-848.pdf

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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: ABCC2: Gln1382Arg; rs72558202

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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Pharmacogenomics of Drug Metabolizing Enzymes and Transporters: Relevance to Precision Medicine.

Genomics, Proteomics & Bioinformatics

Ahmed, Shabbir S; Zhou, Zhan Z; Zhou, Jie J; Chen, Shu-Qing SQ

Publication Date: 2016-10

Variant appearance in text: ABCC2: Q1382R

PubMed Link: 27729266

Variant Present in the following documents:

• main.pdf

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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: DJS: Q1382R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: ABCC2: Q1382R

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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