Publications:

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The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review.

Cancers

Wang, Guanwu G; Heij, Lara Rosaline LR; Liu, Dong D; Dahl, Edgar E; Lang, Sven Arke SA; Ulmer, Tom Florian TF; Luedde, Tom T; Neumann, Ulf Peter UP; Bednarsch, Jan J

Publication Date: 2022-12-02

Variant appearance in text: rs2017000

PubMed Link: 36497451

Variant Present in the following documents:

• Main text
• cancers-14-05969.pdf

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: rs2017000

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: EGFR: 2283+96A>G; rs2017000

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: EGFR: 2283+96A>G; rs2017000

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: EGFR: 2283+96A>G; rs2017000

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: EGFR: 2283+96A>G

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Systematic Review: Genetic Associations for Prognostic Factors of Urinary Bladder Cancer.

Biomarkers In Cancer

Lipunova, Nadezda N; Wesselius, Anke A; Cheng, Kar K KK; van Schooten, Frederik J FJ; Cazier, Jean-Baptiste JB; Bryan, Richard T RT; Zeegers, Maurice P MP

Publication Date: 2019

Variant appearance in text: rs2017000

PubMed Link: 31908559

Variant Present in the following documents:

• Supplementary_Tables_1_12_Sep24_xyz268777d1d25d8.pdf

View BVdb publication page

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Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine

Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V

Publication Date: 2019-03

Variant appearance in text: rs2017000

PubMed Link: 30737087

Variant Present in the following documents:

• mmc1.xlsx, sheet 9

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: EGFR: 2283+96A>G; rs2017000

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs2017000

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2017000

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs2017000

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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SNP interaction pattern identifier (SIPI): an intensive search for SNP-SNP interaction patterns.

Bioinformatics (Oxford, England)

Lin, Hui-Yi HY; Chen, Dung-Tsa DT; Huang, Po-Yu PY; Liu, Yung-Hsin YH; Ochoa, Augusto A; Zabaleta, Jovanny J; Mercante, Donald E DE; Fang, Zhide Z; Sellers, Thomas A TA; Pow-Sang, Julio M JM; Cheng, Chia-Ho CH; Eeles, Rosalind R; Easton, Doug D; Kote-Jarai, Zsofia Z; Amin Al Olama, Ali A; Benlloch, Sara S; Muir, Kenneth K; Giles, Graham G GG; Wiklund, Fredrik F; Gronberg, Henrik H; Haiman, Christopher A CA; Schleutker, Johanna J; Nordestgaard, Børge G BG; Travis, Ruth C RC; Hamdy, Freddie F; Pashayan, Nora N; Khaw, Kay-Tee KT; Stanford, Janet L JL; Blot, William J WJ; Thibodeau, Stephen N SN; Maier, Christiane C; Kibel, Adam S AS; Cybulski, Cezary C; Cannon-Albright, Lisa L; Brenner, Hermann H; Kaneva, Radka R; Batra, Jyotsna J; Teixeira, Manuel R MR; Pandha, Hardev H; Lu, Yong-Jie YJ; , ; Park, Jong Y JY

Publication Date: 2017-03-15

Variant appearance in text: rs2017000

PubMed Link: 28039167

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene signatures of postoperative atrial fibrillation in atrial tissue after coronary artery bypass grafting surgery in patients receiving β-blockers.

Journal Of Molecular And Cellular Cardiology

Kertai, Miklos D MD; Qi, Wenjing W; Li, Yi-Ju YJ; Lombard, Frederick W FW; Liu, Yutao Y; Smith, Michael P MP; Stafford-Smith, Mark M; Newman, Mark F MF; Milano, Carmelo A CA; Mathew, Joseph P JP; Podgoreanu, Mihai V MV; ,

Publication Date: 2016-03

Variant appearance in text: rs2017000

PubMed Link: 26860460

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive and prognostic molecular markers for cholangiocarcinoma in Han Chinese population.

International Journal Of Clinical And Experimental Medicine

Meng, Lingqin L; Tian, Zhong Z; Wang, Yong Y; Liu, Yuan Y; Liu, Jingang J

Publication Date: 2015

Variant appearance in text: rs2017000

PubMed Link: 26550313

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2017000

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

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Germline determinants of clinical outcome of cutaneous melanoma.

Pigment Cell & Melanoma Research

Vogelsang, Matjaz M; Wilson, Melissa M; Kirchhoff, Tomas T

Publication Date: 2016-01

Variant appearance in text: rs2017000

PubMed Link: 26342156

Variant Present in the following documents:

• Main text

View BVdb publication page

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MITF Modulates Therapeutic Resistance through EGFR Signaling.

The Journal Of Investigative Dermatology

Ji, Zhenyu Z; Erin Chen, Yiyin Y; Kumar, Raj R; Taylor, Michael M; Jenny Njauw, Ching-Ni CN; Miao, Benchun B; Frederick, Dennie T DT; Wargo, Jennifer A JA; Flaherty, Keith T KT; Jönsson, Göran G; Tsao, Hensin H

Publication Date: 2015-07

Variant appearance in text: rs2017000

PubMed Link: 25789707

Variant Present in the following documents:

• NIHMS670893-supplement-01.pdf

View BVdb publication page

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Gene variants in angiogenesis and lymphangiogenesis and cutaneous melanoma progression.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Park, Jong Y JY; Amankwah, Ernest K EK; Anic, Gabriella M GM; Lin, Hui-Yi HY; Walls, Brooke B; Park, Hyun H; Krebs, Kevin K; Madden, Melissa M; Maddox, Kristen K; Marzban, Suroosh S; Fang, Shenying S; Chen, Wei W; Lee, Jeffrey E JE; Wei, Qingyi Q; Amos, Christopher I CI; Messina, Jane L JL; Sondak, Vernon K VK; Sellers, Thomas A TA; Egan, Kathleen M KM

Publication Date: 2013-05

Variant appearance in text: rs2017000

PubMed Link: 23462921

Variant Present in the following documents:

• Main text

View BVdb publication page

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EGFR pathway polymorphisms and bladder cancer susceptibility and prognosis.

Carcinogenesis

Mason, Rebecca A RA; Morlock, Elaine V EV; Karagas, Margaret R MR; Kelsey, Karl T KT; Marsit, Carmen J CJ; Schned, Alan R AR; Andrew, Angeline S AS

Publication Date: 2009-07

Variant appearance in text: rs2017000

PubMed Link: 19372140

Variant Present in the following documents:

• Main text

View BVdb publication page

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