Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: ABCB6: G588S

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: ABCB6: 1762G>A; rs145526996

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCB6: G588S; rs145526996

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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ABCB6 polymorphisms are not overly represented in patients with porphyria.

Blood Advances

Farrell, Colin P CP; Nicolas, Gäel G; Desnick, Robert J RJ; Parker, Charles J CJ; Lamoril, Jerome J; Gouya, Laurent L; Karim, Zoubida Z; Tchernitchko, Dimitri D; Chan, Brenden B; Puy, Herve H; Phillips, John D JD

Publication Date: 2022-02-08

Variant appearance in text: ABCB6: G588S

PubMed Link: 34724702

Variant Present in the following documents:

• Main text
• advancesADV2021005484-suppl1.pdf
• advancesADV2021005484.pdf

View BVdb publication page

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Molecular insights into the human ABCB6 transporter.

Cell Discovery

Song, Guangyuan G; Zhang, Sensen S; Tian, Mengqi M; Zhang, Laixing L; Guo, Runyu R; Zhuo, Wei W; Yang, Maojun M

Publication Date: 2021-07-27

Variant appearance in text: ABCB6: G588S

PubMed Link: 34312373

Variant Present in the following documents:

• Main text
• 41421_2021_Article_284.pdf

View BVdb publication page

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Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports

Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A

Publication Date: 2021-07-19

Variant appearance in text: ABCB6: G588S; rs145526996

PubMed Link: 34282249

Variant Present in the following documents:

• 41598_2021_94316_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.

Genes

Andolfo, Immacolata I; Martone, Stefania S; Rosato, Barbara Eleni BE; Marra, Roberta R; Gambale, Antonella A; Forni, Gian Luca GL; Pinto, Valeria V; Göransson, Magnus M; Papadopoulou, Vasiliki V; Gavillet, Mathilde M; Elalfy, Mohsen M; Panarelli, Antonella A; Tomaiuolo, Giovanna G; Iolascon, Achille A; Russo, Roberta R

Publication Date: 2021-06-23

Variant appearance in text: ABCB6: 1762G>A; Gly588Ser; rs145526996

PubMed Link: 34201899

Variant Present in the following documents:

• Main text
• genes-12-00958.pdf

View BVdb publication page

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Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families.

Genes

Fernández-Alcalde, Celia C; Nieves-Moreno, María M; Noval, Susana S; Peralta, Jesús M JM; Montaño, Victoria E F VEF; Del Pozo, Ángela Á; Santos-Simarro, Fernando F; Vallespín, Elena E

Publication Date: 2021-04-16

Variant appearance in text: ABCB6: 1762G>A; Gly588Ser

PubMed Link: 33923544

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.

Liver International : Official Journal Of The International Association For The Study Of The Liver

Haisma, Sjoukje-Marije SM; Weersma, Rinse K RK; Joosse, Maria E ME; de Koning, Barbara A E BAE; de Meij, Tim T; Koot, Bart G P BGP; Wolters, Victorien V; Norbruis, Obbe O; Daly, Mark J MJ; Stevens, Christine C; Xavier, Ramnik J RJ; Koskela, Jukka J; Rivas, Manuel A MA; Visschedijk, Marijn C MC; Verkade, Henkjan J HJ; Barbieri, Ruggero R; Jansen, Dianne B H DBH; Festen, Eleonora A M EAM; van Rheenen, Patrick F PF; van Diemen, Cleo C CC

Publication Date: 2021-05

Variant appearance in text: ABCB6: G588S; rs145526996

PubMed Link: 33590606

Variant Present in the following documents:

• Main text
• LIV-41-1044.pdf

View BVdb publication page

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Next-Generation Sequencing Technologies in Blood Group Typing.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Fürst, Daniel D; Tsamadou, Chrysanthi C; Neuchel, Christine C; Schrezenmeier, Hubert H; Mytilineos, Joannis J; Weinstock, Christof C

Publication Date: 2020-02

Variant appearance in text: ABCB6: 1762G>A; Gly588Ser; rs145526996

PubMed Link: 32110189

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs145526996

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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ABCB6, an ABC Transporter Impacting Drug Response and Disease.

The Aaps Journal

Boswell-Casteel, Rebba C RC; Fukuda, Yu Y; Schuetz, John D JD

Publication Date: 2017-11-30

Variant appearance in text: ABCB6: G588S

PubMed Link: 29192381

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ABCB6: G588S; rs145526996

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

View BVdb publication page

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The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

Nature Communications

Fukuda, Yu Y; Cheong, Pak Leng PL; Lynch, John J; Brighton, Cheryl C; Frase, Sharon S; Kargas, Vasileios V; Rampersaud, Evadnie E; Wang, Yao Y; Sankaran, Vijay G VG; Yu, Bing B; Ney, Paul A PA; Weiss, Mitchell J MJ; Vogel, Peter P; Bond, Peter J PJ; Ford, Robert C RC; Trent, Ronald J RJ; Schuetz, John D JD

Publication Date: 2016-08-10

Variant appearance in text: ABCB6: 1762G>A; G588S

PubMed Link: 27507172

Variant Present in the following documents:

• Main text
• ncomms12353-s1.pdf
• ncomms12353.pdf

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: ABCB6: G588S; rs145526996

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 8

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: ABCB6: G588S; rs145526996

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 6
• pone.0123569.s008.xls, sheet 11
• pone.0123569.s008.xls, sheet 2

View BVdb publication page

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Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.

Plos One

Koszarska, Magdalena M; Kucsma, Nora N; Kiss, Katalin K; Varady, Gyorgy G; Gera, Melinda M; Antalffy, Geza G; Andrikovics, Hajnalka H; Tordai, Attila A; Studzian, Maciej M; Strapagiel, Dominik D; Pulaski, Lukasz L; Tani, Yoshihiko Y; Sarkadi, Balazs B; Szakacs, Gergely G

Publication Date: 2014

Variant appearance in text: ABCB6: 1762G>A; G588S; rs145526996

PubMed Link: 25360778

Variant Present in the following documents:

• Main text
• pone.0111590.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: ABCB6: G588S

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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International Society of Blood Transfusion Working Party on red cell immunogenetics and blood group terminology: Cancun report (2012).

Vox Sanguinis

Storry, J R JR; Castilho, L L; Daniels, G G; Flegel, W A WA; Garratty, G G; de Haas, M M; Hyland, C C; Lomas-Francis, C C; Moulds, J M JM; Nogues, N N; Olsson, M L ML; Poole, J J; Reid, M E ME; Rouger, P P; van der Schoot, E E; Scott, M M; Tani, Y Y; Yu, L-C LC; Wendel, S S; Westhoff, C C; Yahalom, V V; Zelinski, T T

Publication Date: 2014-07

Variant appearance in text: ABCB6: 1762G>A; Gly588Ser

PubMed Link: 24372289

Variant Present in the following documents:

• Main text

View BVdb publication page

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