Publications:

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Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.

Scientific Reports

Zöllner, Julia J; Finer, Sarah S; Linton, Kenneth J KJ; , ; van Heel, David A DA; Williamson, Catherine C; Dixon, Peter H PH

Publication Date: 2023-05-19

Variant appearance in text: ABCB11: M677V; rs11568364

PubMed Link: 37208429

Variant Present in the following documents:

• Main text
• 41598_2023_Article_33391.pdf

View BVdb publication page

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Native liver survival in bile salt export pump deficiency: results of a retrospective cohort study.

Hepatology Communications

Pfister, Eva-Doreen ED; Jaeger, Veronika K VK; Karch, André A; Shay, Denys D; Schukfeh, Nagoud N; Ohlendorf, Johanna J; Junge, Norman N; Goldschmidt, Imeke I; Stalke, Amelie A; Keitel-Anselmino, Verena V; Baumann, Ulrich U

Publication Date: 2023-04-01

Variant appearance in text: ABCB11: 2029A>G

PubMed Link: 36995996

Variant Present in the following documents:

• Main text
• hc9-7-e0092.pdf

View BVdb publication page

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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: ABCB11: M677V; rs11568364

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: ABCB11: M677V

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: ABCB11: M677V; rs11568364

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components.

Journal Of Clinical Medicine

Turner, Richard Myles RM; Pirmohamed, Munir M

Publication Date: 2019-12-20

Variant appearance in text: rs11568364

PubMed Link: 31861911

Variant Present in the following documents:

• jcm-09-00022-s001.pdf

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: ABCB11: M677V; rs11568364

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

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: ABCB11: 2029A>G; Met677Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: ABCB11: M677V

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: ABCB11: M677V; rs11568364

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: ABCB11: 2029A>G; M677V; rs11568364

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1
• ncomms12475-s2.xlsx, sheet 1

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: PFIC2: M677V; rs11568364

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: ABCB11: M677V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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: ABCB11: M677V

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Bile formation and secretion.

Comprehensive Physiology

Boyer, James L JL

Publication Date: 2013-07

Variant appearance in text: BSEP: 2029A>G

PubMed Link: 23897680

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.

Molecular Aspects Of Medicine

Soroka, Carol J CJ; Boyer, James L JL

Publication Date: 2014-06

Variant appearance in text: BSEP: M677V

PubMed Link: 23685087

Variant Present in the following documents:

• Main text

View BVdb publication page

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Drug-induced cholestasis.

Hepatology (Baltimore, Md.)

Padda, Manmeet S MS; Sanchez, Mayra M; Akhtar, Abbasi J AJ; Boyer, James L JL

Publication Date: 2011-04

Variant appearance in text: BSEP: 2029A>G

PubMed Link: 21480339

Variant Present in the following documents:

• Main text

View BVdb publication page

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The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.

Seminars In Liver Disease

Lam, Ping P; Soroka, Carol J CJ; Boyer, James L JL

Publication Date: 2010-05

Variant appearance in text: BSEP: 2029A>G

PubMed Link: 20422495

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.

Pharmacogenetics And Genomics

Ho, Richard H RH; Leake, Brenda F BF; Kilkenny, Dawn M DM; Meyer Zu Schwabedissen, Henriette E HE; Glaeser, Hartmut H; Kroetz, Deanna L DL; Kim, Richard B RB

Publication Date: 2010-01

Variant appearance in text: BSEP: Met677Val; rs11568364

PubMed Link: 20010382

Variant Present in the following documents:

• Main text

View BVdb publication page

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