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: PTGS1: V481I

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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Impact of pharmacogenetics on aspirin resistance: a systematic review.

Arquivos De Neuro-Psiquiatria

Silva, Gustavo Figueiredo da GFD; Lopes, Bruno Mattei BM; Moser, Vinicius V; Ferreira, Leslie Ecker LE

Publication Date: 2023-01

Variant appearance in text: rs5794

PubMed Link: 36918009

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1758445.pdf

View BVdb publication page

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: PTGS1: V481I; rs5794

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 12
• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.

Gastroenterology Report

Ben-Yosef, Noam N; Frampton, Matthew M; Schiff, Elena R ER; Daher, Saleh S; Abu Baker, Fadi F; Safadi, Rifaat R; Israeli, Eran E; Segal, Anthony W AW; Levine, Adam P AP

Publication Date: 2021-12

Variant appearance in text: PTGS1: V481I; rs5794

PubMed Link: 34925849

Variant Present in the following documents:

• Main text
• goab007.pdf

View BVdb publication page

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Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.

Haematologica

Chan, Melissa V MV; Hayman, Melissa A MA; Sivapalaratnam, Suthesh S; Crescente, Marilena M; Allan, Harriet E HE; Edin, Matthew L ML; Zeldin, Darryl C DC; Milne, Ginger L GL; Stephens, Jonathan J; Greene, Daniel D; Hanif, Moghees M; O'Donnell, Valerie B VB; Dong, Liang L; Malkowski, Michael G MG; Lentaigne, Claire C; Wedderburn, Katherine K; Stubbs, Matthew M; Downes, Kate K; Ouwehand, Willem H WH; Turro, Ernest E; BioResource, Nihr N; Hart, Daniel P DP; Freson, Kathleen K; Laffan, Michael A MA; Warner, Timothy D TD

Publication Date: 2021-05-01

Variant appearance in text: PTGS1: Val481Ile

PubMed Link: 32299908

Variant Present in the following documents:

• Main text
• 1061423.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: PTGS1: V481I

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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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: PTGS1: 1441G>A; Val481Ile; rs5794

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: PTGS1: V481I; rs5794

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

British Journal Of Haematology

Leinøe, Eva E; Zetterberg, Eva E; Kinalis, Savvas S; Østrup, Olga O; Kampmann, Peter P; Norström, Eva E; Andersson, Nadine N; Klintman, Jenny J; Qvortrup, Klaus K; Nielsen, Finn Cilius FC; Rossing, Maria M

Publication Date: 2017-10

Variant appearance in text: PTGS1: Val481Ile

PubMed Link: 28748566

Variant Present in the following documents:

• Main text
• BJH-179-308.pdf

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: rs5794

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: PTGS1: V481I

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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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: rs5794

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 10

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs5794

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 23

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs5794

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2
• NIHMS512112-supplement-1.pdf

View BVdb publication page

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Decreased cyclooxygenase inhibition by aspirin in polymorphic variants of human prostaglandin H synthase-1.

Pharmacogenetics And Genomics

Liu, Wen W; Poole, Elizabeth M EM; Ulrich, Cornelia M CM; Kulmacz, Richard J RJ

Publication Date: 2012-07

Variant appearance in text: PGHS-1: V481I

PubMed Link: 22513397

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification and functional characterization of polymorphisms in human cyclooxygenase-1 (PTGS1).

Pharmacogenetics And Genomics

Lee, Craig R CR; Bottone, Frank G FG; Krahn, Joseph M JM; Li, Leping L; Mohrenweiser, Harvey W HW; Cook, Molly E ME; Petrovich, Robert M RM; Bell, Douglas A DA; Eling, Thomas E TE; Zeldin, Darryl C DC

Publication Date: 2007-02

Variant appearance in text: PTGS1: V481I; rs5794

PubMed Link: 17301694

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms within inflammatory genes and colorectal cancer.

Journal Of Negative Results In Biomedicine

Landi, Stefano S; Gemignani, Federica F; Bottari, Fabio F; Gioia-Patricola, Lydie L; Guino, Elisabet E; Cambray, María M; Biondo, Sebastiano S; Capella, Gabriel G; Boldrini, Laura L; Canzian, Federico F; Moreno, Victor V

Publication Date: 2006-10-24

Variant appearance in text: rs5794

PubMed Link: 17062130

Variant Present in the following documents:

• Main text
• 1477-5751-5-15.pdf

View BVdb publication page

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