Publications:

---

Precision medicine and drug optimization in adult inflammatory bowel disease patients.

Therapeutic Advances In Gastroenterology

Vieujean, Sophie S; Louis, Edouard E

Publication Date: 2023

Variant appearance in text: AOX1: Asn1135Ser; rs55754655

PubMed Link: 37197397

Variant Present in the following documents:

• Main text
• 10.1177_17562848231173331.pdf

View BVdb publication page

---

Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: AOX1: N1135S

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

---

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: AOX1: N1135S; rs55754655

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

Systematic exploration of predicted destabilizing nonsynonymous single nucleotide polymorphisms (nsSNPs) of human aldehyde oxidase: A Bio-informatics study.

Pharmacology Research & Perspectives

Coelho, Catarina C; Muthukumaran, Jayaraman J; Santos-Silva, Teresa T; João Romão, Maria M

Publication Date: 2019-12

Variant appearance in text: AOX1: N1135S

PubMed Link: 31768259

Variant Present in the following documents:

• Main text
• PRP2-7-e00538.pdf

View BVdb publication page

---

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: AOX1: N1135S; rs55754655

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

---

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: AOX1: N1135S; rs55754655

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

---

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: AOX1: N1135S; rs55754655

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs55754655

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

---

Revisiting the Role of Thiopurines in Inflammatory Bowel Disease Through Pharmacogenomics and Use of Novel Methods for Therapeutic Drug Monitoring.

Frontiers In Pharmacology

Lim, Sheng Zhang SZ; Chua, Eng Wee EW

Publication Date: 2018

Variant appearance in text: rs55754655

PubMed Link: 30349479

Variant Present in the following documents:

• Main text
• fphar-09-01107.pdf

View BVdb publication page

---

The genetics of gout: towards personalised medicine?

Bmc Medicine

Dalbeth, Nicola N; Stamp, Lisa K LK; Merriman, Tony R TR

Publication Date: 2017-05-31

Variant appearance in text: AOX1: N1135S; rs55754655

PubMed Link: 28566086

Variant Present in the following documents:

• Main text
• 12916_2017_Article_878.pdf

View BVdb publication page

---

Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort.

Scientific Reports

Coelho, Tracy T; Andreoletti, Gaia G; Ashton, James J JJ; Batra, Akshay A; Afzal, Nadeem Ahmad NA; Gao, Yifang Y; Williams, Anthony P AP; Beattie, Robert M RM; Ennis, Sarah S

Publication Date: 2016-10-05

Variant appearance in text: AOX1: N1135S; rs55754655

PubMed Link: 27703193

Variant Present in the following documents:

• Main text
• srep34658.pdf

View BVdb publication page

---

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: AOX1: N1135S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

---

Pharmacogenetics and interstitial lung disease.

Current Opinion In Pulmonary Medicine

Oldham, Justin M JM; Noth, Imre I; Martinez, Fernando J FJ

Publication Date: 2016-09

Variant appearance in text: rs55754655

PubMed Link: 27253772

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Update on pathogenesis and predictors of response of therapeutic strategies used in inflammatory bowel disease.

World Journal Of Gastroenterology

Quetglas, Emilio G EG; Mujagic, Zlatan Z; Wigge, Simone S; Keszthelyi, Daniel D; Wachten, Sebastian S; Masclee, Ad A; Reinisch, Walter W

Publication Date: 2015-11-28

Variant appearance in text: AOX1: 3404A>G

PubMed Link: 26640330

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: AOX1: N1135S; rs55754655

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

---

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: AOX1: N1135S; rs55754655

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

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: AOX1: N1135S; rs55754655

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18

View BVdb publication page

---

Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs55754655

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Impaired response or insufficient dosage? Examining the potential causes of "inadequate response" to allopurinol in the treatment of gout.

Seminars In Arthritis And Rheumatism

Stamp, Lisa K LK; Merriman, Tony R TR; Barclay, Murray L ML; Singh, Jasvinder A JA; Roberts, Rebecca L RL; Wright, Daniel F B DF; Dalbeth, Nicola N

Publication Date: 2014-10

Variant appearance in text: rs55754655

PubMed Link: 24925693

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A pharmacogenetic study of aldehyde oxidase I in patients treated with XK469.

Pharmacogenetics And Genomics

Ramírez, Jacqueline J; Kim, Tae Won TW; Liu, Wanqing W; Myers, Jamie L JL; Mirkov, Snezana S; Owzar, Kouros K; Watson, Dorothy D; Mulkey, Flora F; Gamazon, Eric R ER; Stock, Wendy W; Undevia, Samir S; Innocenti, Federico F; Ratain, Mark J MJ

Publication Date: 2014-02

Variant appearance in text: AOX1: N1135S; rs55754655

PubMed Link: 24300566

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The impact of single nucleotide polymorphisms on human aldehyde oxidase.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Hartmann, Tobias T; Terao, Mineko M; Garattini, Enrico E; Teutloff, Christian C; Alfaro, Joshua F JF; Jones, Jeffrey P JP; Leimkühler, Silke S

Publication Date: 2012-05

Variant appearance in text: AOX1: N1135S; rs55754655

PubMed Link: 22279051

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

Environmental Health Perspectives

Steinberg, Karen K KK; Relling, Mary V MV; Gallagher, Margaret L ML; Greene, Christopher N CN; Rubin, Carol S CS; French, Deborah D; Holmes, Adrianne K AK; Carroll, William L WL; Koontz, Deborah A DA; Sampson, Eric J EJ; Satten, Glen A GA

Publication Date: 2007-01

Variant appearance in text: AOX1: N1135S

PubMed Link: 17366837

Variant Present in the following documents:

• Main text
• ehp0115-000158.pdf

View BVdb publication page

---