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: BSEP: Val444Ala

PubMed Link: 37208429

Variant Present in the following documents:

• Main text
• 41598_2023_Article_33391.pdf

View BVdb publication page

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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: ABCB11: V444A; rs2287622

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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Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.

International Journal Of Molecular Sciences

Vitale, Giovanni G; Mattiaccio, Alessandro A; Conti, Amalia A; Berardi, Sonia S; Vero, Vittoria V; Turco, Laura L; Seri, Marco M; Morelli, Maria Cristina MC

Publication Date: 2023-03-18

Variant appearance in text: BSEP: 1331T>C

PubMed Link: 36982896

Variant Present in the following documents:

• Main text
• ijms-24-05823.pdf

View BVdb publication page

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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

Jhep Reports : Innovation In Hepatology

Felzen, Antonia A; van Wessel, Daan B E DBE; Gonzales, Emmanuel E; Thompson, Richard J RJ; Jankowska, Irena I; Shneider, Benjamin L BL; Sokal, Etienne E; Grammatikopoulos, Tassos T; Kadaristiana, Agustina A; Jacquemin, Emmanuel E; Spraul, Anne A; Lipiński, Patryk P; Czubkowski, Piotr P; Rock, Nathalie N; Shagrani, Mohammad M; Broering, Dieter D; Nicastro, Emanuele E; Kelly, Deirdre D; Nebbia, Gabriella G; Arnell, Henrik H; Fischler, Björn B; Hulscher, Jan B F JBF; Serranti, Daniele D; Arikan, Cigdem C; Polat, Esra E; Debray, Dominique D; Lacaille, Florence F; Goncalves, Cristina C; Hierro, Loreto L; Muñoz Bartolo, Gema G; Mozer-Glassberg, Yael Y; Azaz, Amer A; Brecelj, Jernej J; Dezsőfi, Antal A; Calvo, Pier Luigi PL; Grabhorn, Enke E; Hartleif, Steffen S; van der Woerd, Wendy J WJ; Kamath, Binita M BM; Wang, Jian-She JS; Li, Liting L; Durmaz, Özlem Ö; Kerkar, Nanda N; Jørgensen, Marianne Hørby MH; Fischer, Ryan R; Jimenez-Rivera, Carolina C; Alam, Seema S; Cananzi, Mara M; Laverdure, Noemie N; Ferreira, Cristina Targa CT; Guerrero, Felipe Ordoñez FO; Wang, Heng H; Sency, Valerie V; Kim, Kyung Mo KM; Chen, Huey-Ling HL; de Carvalho, Elisa E; Fabre, Alexandre A; Bernabeu, Jesus Quintero JQ; Zellos, Aglaia A; Alonso, Estella M EM; Sokol, Ronald J RJ; Suchy, Frederick J FJ; Loomes, Kathleen M KM; McKiernan, Patrick J PJ; Rosenthal, Philip P; Turmelle, Yumirle Y; Horslen, Simon S; Schwarz, Kathleen K; Bezerra, Jorge A JA; Wang, Kasper K; Hansen, Bettina E BE; Verkade, Henkjan J HJ; ,

Publication Date: 2023-02

Variant appearance in text: ABCB11: V444A

PubMed Link: 36687469

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf
• mmc4.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2287622

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2287622

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Generation of patient-derived models from a metastatic pediatric diffuse leptomeningeal glioneuronal tumor with KIAA1549::BRAF fusion.

Acta Neuropathologica

Messiaen, Julie J; Claeys, Annelies A; Shetty, Aniket A; Spans, Lien L; Derweduwe, Marleen M; Uyttebroeck, Anne A; Depreitere, Bart B; Vanden Bempt, Isabelle I; Sciot, Raf R; Ligon, Keith L KL; Jones, David T W DTW; Jacobs, Sandra A SA; De Smet, Frederik F

Publication Date: 2022-10

Variant appearance in text: ABCB11: 1331T>C; V444A; rs2287622

PubMed Link: 35925403

Variant Present in the following documents:

• 401_2022_2473_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.

Cancers

Vitale, Giovanni G; Mattiaccio, Alessandro A; Conti, Amalia A; Turco, Laura L; Seri, Marco M; Piscaglia, Fabio F; Morelli, Maria Cristina MC

Publication Date: 2022-07-14

Variant appearance in text: ABCB11: 1331T>C; rs2287622

PubMed Link: 35884482

Variant Present in the following documents:

• Main text
• cancers-14-03421.pdf

View BVdb publication page

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Genetic Factors and Their Role in the Pathogenesis of Biliary Atresia.

Frontiers In Pediatrics

Wu, Li-Na LN; Zhu, Zhi-Jun ZJ; Sun, Li-Ying LY

Publication Date: 2022

Variant appearance in text: rs2287622

PubMed Link: 35844731

Variant Present in the following documents:

• Main text
• fped-10-912154.pdf

View BVdb publication page

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Recent updates on progressive familial intrahepatic cholestasis types 1, 2 and 3: Outcome and therapeutic strategies.

World Journal Of Hepatology

Alam, Seema S; Lal, Bikrant Bihari BB

Publication Date: 2022-01-27

Variant appearance in text: BSEP: V444A

PubMed Link: 35126842

Variant Present in the following documents:

• Main text
• WJH-14-98.pdf

View BVdb publication page

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Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure.

Medicine

Hoa, Nguyen Pham Anh NPA; Lien, Nguyen Thi Kim NTK; Tung, Nguyen Van NV; Lan, Nguyen Ngoc NN; Mai, Nguyen Thi Phuong NTP; Huong, Nguyen Thi Mai NTM; Thach, Hoang Ngoc HN; Hoang, Nguyen Huy NH

Publication Date: 2022-01-14

Variant appearance in text: ABCB11: 1331T>C; rs2287622

PubMed Link: 35029214

Variant Present in the following documents:

• Main text
• medi-101-e28547.pdf

View BVdb publication page

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Biliary atresia combined Wilson disease identified by whole exome sequencing in Vietnamese patient with severe liver failure.

Medicine

Hoa, Nguyen Pham Anh NPA; Lien, Nguyen Thi Kim NTK; Tung, Nguyen Van NV; Lan, Nguyen Ngoc NN; Mai, Nguyen Thi Phuong NTP; Huong, Nguyen Thi Mai NTM; Thach, Hoang Ngoc HN; Hoang, Nguyen Huy NH

Publication Date: 2022-01-14

Variant appearance in text: ABCB11: 1331T>C; rs2287622

PubMed Link: 35029214

Variant Present in the following documents:

• Main text
• medi-101-e28547.pdf

View BVdb publication page

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The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.

Medicine

Van Tung, Nguyen N; Lien, Nguyen Thi Kim NTK; Lan, Nguyen Ngoc NN; Mai, Nguyen Thi Phuong NTP; Yen, Pham Thi Hai PTH; Hoa, Nguyen Pham Anh NPA; Hoang, Nguyen Huy NH

Publication Date: 2021-11-24

Variant appearance in text: ABCB11: 1331T>C; rs2287622

PubMed Link: 34964797

Variant Present in the following documents:

• Main text
• medi-100-e28011.pdf

View BVdb publication page

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The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.

Medicine

Van Tung, Nguyen N; Lien, Nguyen Thi Kim NTK; Lan, Nguyen Ngoc NN; Mai, Nguyen Thi Phuong NTP; Yen, Pham Thi Hai PTH; Hoa, Nguyen Pham Anh NPA; Hoang, Nguyen Huy NH

Publication Date: 2021-11-24

Variant appearance in text: ABCB11: 1331T>C; rs2287622

PubMed Link: 34964797

Variant Present in the following documents:

• Main text
• medi-100-e28011.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: ABCB11: V444A; rs2287622

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: ABCB11: V444A; rs2287622

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

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: rs2287622

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: rs2287622

PubMed Link: 34575654

Variant Present in the following documents:

• Main text
• jpm-11-00877.pdf

View BVdb publication page

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Gene Variants Determine Placental Transfer of Perfluoroalkyl Substances (PFAS), Mercury (Hg) and Lead (Pb), and Birth Outcome: Findings From the UmMuKi Bratislava-Vienna Study.

Frontiers In Genetics

Gundacker, Claudia C; Graf-Rohrmeister, Klaudia K; Gencik, Martin M; Hengstschläger, Markus M; Holoman, Karol K; Rosa, Petra P; Kroismayr, Renate R; Offenthaler, Ivo I; Plichta, Veronika V; Reischer, Theresa T; Teufl, Isabella I; Raffesberg, Wolfgang W; Scharf, Sigrid S; Köhler-Vallant, Birgit B; Delissen, Zoja Z; Weiß, Stefan S; Uhl, Maria M

Publication Date: 2021

Variant appearance in text: ABCB11: Val444Ala; rs2287622

PubMed Link: 34220941

Variant Present in the following documents:

• Main text
• fgene-12-664946.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: ABCB11: 1331T>C; V444A; rs2287622

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: ABCB11: 1331T>C; Val444Ala; rs2287622

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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Benign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation.

Turkish Archives Of Pediatrics

Akbulut, Ulaş Emre UE; Randa, Nadide Cemre NC; Işık, İshak Abdurrahman İA; Atalay, Atike A

Publication Date: 2021-01

Variant appearance in text: ABCB11: 1331T>C; rs2287622

PubMed Link: 34013234

Variant Present in the following documents:

• Main text
• tap-56-1-72.pdf

View BVdb publication page

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Idiosyncratic Drug-Induced Liver Injury: Mechanistic and Clinical Challenges.

International Journal Of Molecular Sciences

Jee, Alison A; Sernoskie, Samantha Christine SC; Uetrecht, Jack J

Publication Date: 2021-03-14

Variant appearance in text: BSEP: V444A

PubMed Link: 33799477

Variant Present in the following documents:

• Main text
• ijms-22-02954.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: ABCB11: V444A; rs2287622

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report.

Experimental And Therapeutic Medicine

Han, Yue Y; Zhuang, Yan Y; Tang, Weiliang W; Chen, Lu L; Chen, Yejing Y; Gong, Qiming Q; Zhang, Xinxin X

Publication Date: 2021-05

Variant appearance in text: ABCB11: V444A

PubMed Link: 33777192

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.

Pharmacogenomics And Personalized Medicine

Fonseca, Dora Janeth DJ; Morel, Adrien A; Llinás-Caballero, Kevin K; Bolívar-Salazar, David D; Laissue, Paul P

Publication Date: 2021

Variant appearance in text: ABCB11: 1331T>C; Val444Ala; rs2287622

PubMed Link: 33688237

Variant Present in the following documents:

• Main text
• pgpm-14-287.pdf

View BVdb publication page

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Late response to rosuvastatin and statin-related myalgia due to SLCO1B1, SLCO1B3, ABCB11, and CYP3A5 variants in a patient with Familial Hypercholesterolemia: a case report.

Annals Of Translational Medicine

Dagli-Hernandez, Carolina C; de Freitas, Renata Caroline Costa RCC; Marçal, Elisangela da Silva Rodrigues EDSR; Gonçalves, Rodrigo Marques RM; Faludi, Andre Arpad AA; Borges, Jéssica Bassani JB; Bastos, Gisele Medeiros GM; Los, Bruna B; Mori, Augusto Akira AA; Bortolin, Raul Hernandes RH; Ferreira, Glaucio Monteiro GM; de Oliveira, Victor Fernandes VF; Hirata, Thiago Dominguez Crespo TDC; Hirata, Mario Hiroyuki MH; Hirata, Rosario Dominguez Crespo RDC

Publication Date: 2021-01

Variant appearance in text: ABCB11: 1331T>C; Val444Ala; rs2287622

PubMed Link: 33553369

Variant Present in the following documents:

• Main text
• atm-09-01-76.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2287622

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.

International Journal Of Molecular Sciences

Sohail, Muhammad Imran MI; Dönmez-Cakil, Yaprak Y; Szöllősi, Dániel D; Stockner, Thomas T; Chiba, Peter P

Publication Date: 2021-01-14

Variant appearance in text: PFIC2: V444A

PubMed Link: 33466755

Variant Present in the following documents:

• Main text
• ijms-22-00784.pdf

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: V444A; rs2287622

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: ABCB11: 1331T>C; V444A; rs2287622

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4

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: rs2287622

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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Odevixibat and partial external biliary diversion showed equal improvement of cholestasis in a patient with progressive familial intrahepatic cholestasis.

Bmj Case Reports

Slavetinsky, Christoph C; Sturm, Ekkehard E

Publication Date: 2020-06-29

Variant appearance in text: BSEP: 1331T>C; rs2287622

PubMed Link: 32601135

Variant Present in the following documents:

• Main text
• bcr-2019-234185.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: ABCB11: V444A; rs2287622

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2287622

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde

Publication Date: 2011

Variant appearance in text: BSEP: 1331T>C

PubMed Link: 32226154

Variant Present in the following documents:

• 112_2011_Article_2508.pdf

View BVdb publication page

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A Pharmacogenomic Dissection of a Rosuvastatin-Induced Rhabdomyolysis Case Evokes the Polygenic Nature of Adverse Drug Reactions.

Pharmacogenomics And Personalized Medicine

Calderon-Ospina, Carlos Alberto CA; Hernández-Sómerson, Mario M; García, Ana María AM; Mejia, Adriana A; Tamayo-Agudelo, Caroll C; Laissue, Paul P; Fonseca Mendoza, Dora Janeth DJ

Publication Date: 2020

Variant appearance in text: ABCB11: 1331T>C; Val444Ala; rs2287622

PubMed Link: 32184647

Variant Present in the following documents:

• Main text
• pgpm-13-59.pdf

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: ABCB11: V444A

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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Danger of Herbal Tea: A Case of Acute Cholestatic Hepatitis Due to Artemisia annua Tea.

Frontiers In Medicine

Ruperti-Repilado, Francisco Javier FJ; Haefliger, Simon S; Rehm, Sophia S; Zweier, Markus M; Rentsch, Katharina M KM; Blum, Johannes J; Jetter, Alexander A; Heim, Markus M; Leuppi-Taegtmeyer, Anne A; Terracciano, Luigi L; Bernsmeier, Christine C

Publication Date: 2019

Variant appearance in text: ABCB11: Val444Ala

PubMed Link: 31681778

Variant Present in the following documents:

• Main text
• fmed-06-00221.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ABCB11: 1331T>C; Val444Ala; rs2287622

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ABCB11: V444A; rs2287622

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with α1-Antitrypsin Deficiency.

Scientific Reports

Rigobello, Chiara C; Baraldo, Simonetta S; Tinè, Mariaenrica M; Ferrarotti, Ilaria I; Corsico, Angelo Guido AG; Bazzan, Erica E; Turato, Graziella G; Balestro, Elisabetta E; Biondini, Davide D; Valle, Giorgio G; Saetta, Marina M; Cosio, Manuel G MG

Publication Date: 2019-09-11

Variant appearance in text: rs2287622

PubMed Link: 31511551

Variant Present in the following documents:

• Main text
• 41598_2019_Article_49409.pdf

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Expanding etiology of progressive familial intrahepatic cholestasis.

World Journal Of Hepatology

Henkel, Sarah Af SA; Squires, Judy H JH; Ayers, Mary M; Ganoza, Armando A; Mckiernan, Patrick P; Squires, James E JE

Publication Date: 2019-05-27

Variant appearance in text: PFIC2: V444A

PubMed Link: 31183005

Variant Present in the following documents:

• Main text
• WJH-11-450.pdf

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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: V444A; rs2287622

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

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Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients.

Bmc Cancer

Bhuvaneshwar, Krithika K; Harris, Michael M; Gusev, Yuriy Y; Madhavan, Subha S; Iyer, Ramaswamy R; Vilboux, Thierry T; Deeken, John J; Yang, Elizabeth E; Shankar, Sadhna S

Publication Date: 2019-04-16

Variant appearance in text: ABCB11: 1331T>C; Val444Ala

PubMed Link: 30991985

Variant Present in the following documents:

• 12885_2019_5474_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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