Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: AXIN2: P50S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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: rs2240308

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Detection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia.

Journal Of Dental Research, Dental Clinics, Dental Prospects

Safari, Shiva S; Ebadifar, Asghar A; Najmabadi, Hossien H; Kamali, Koorosh K; Abedini, Seyedeh Sedigheh SS; Mousavi, Mohammad M

Publication Date: 2022

Variant appearance in text: rs2240308

PubMed Link: 36561383

Variant Present in the following documents:

• Main text
• joddd-16-107.pdf

View BVdb publication page

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Association of AXIN1 rs12921862 C/a and rs1805105 G/a and CTSB rs12898 G/a polymorphisms with papillary thyroid carcinoma: A case-control study.

Journal Of Clinical Laboratory Analysis

Saljooghi, Shaghayegh S; Heidari, Zahra Z; Saravani, Mohsen M; Rezaei, Mahnaz M; Salimi, Saeedeh S

Publication Date: 2022-12-12

Variant appearance in text: rs2240308

PubMed Link: 36510340

Variant Present in the following documents:

• Main text
• JCLA-37-e24804.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: AXIN2: P50S; rs2240308

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.

Journal Of Clinical Medicine

Biedziak, Barbara B; Firlej, Ewa E; Dąbrowska, Justyna J; Bogdanowicz, Agnieszka A; Zadurska, Małgorzata M; Mostowska, Adrianna A

Publication Date: 2022-10-15

Variant appearance in text: AXIN2: Pro50Ser; rs2240308

PubMed Link: 36294409

Variant Present in the following documents:

• jcm-11-06089.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: AXIN2: P50S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular Profile Changes in Patients with Castrate-Resistant Prostate Cancer Pre- and Post-Abiraterone/Prednisone Treatment.

Molecular Cancer Research : Mcr

Sicotte, Hugues H; Kalari, Krishna R KR; Qin, Sisi S; Dehm, Scott M SM; Bhargava, Vipul V; Gormley, Michael M; Tan, Winston W; Sinnwell, Jason P JP; Hillman, David W DW; Li, Ying Y; Vedell, Peter T PT; Carlson, Rachel E RE; Bryce, Alan H AH; Jimenez, Raphael E RE; Weinshilboum, Richard M RM; Kohli, Manish M; Wang, Liewei L

Publication Date: 2022-12-02

Variant appearance in text: AXIN2: P50S

PubMed Link: 36135372

Variant Present in the following documents:

• mcr-22-0099_supplementary_tables_1-41_suppst1-41.xlsx, sheet 10

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: AXIN2: P50S; rs2240308

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Genotypes and Haplotypes in the AXIN2 and TCF7L2 Genes are Associated With Susceptibility and With Clinicopathological Characteristics in Breast Cancer Patients.

British Journal Of Biomedical Science

Rosales-Reynoso, M A MA; Rosas-Enríquez, V V; Saucedo-Sariñana, A M AM; Pérez-Coria, M M; Gallegos-Arreola, M P MP; Salas-González, E E; Barros-Núñez, P P; Juárez-Vázquez, C I CI; Flores-Martínez, S E SE; Sánchez-Corona, J J

Publication Date: 2022

Variant appearance in text: AXIN2: 148C>T; Pro50Ser; rs2240308

PubMed Link: 35996498

Variant Present in the following documents:

• Main text
• bjbs-79-10211.pdf

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: AXIN2: 148C>T; Pro50Ser; rs2240308

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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A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation.

Nature Communications

Llimos, Gerard G; Gardeux, Vincent V; Koch, Ute U; Kribelbauer, Judith F JF; Hafner, Antonina A; Alpern, Daniel D; Pezoldt, Joern J; Litovchenko, Maria M; Russeil, Julie J; Dainese, Riccardo R; Moia, Riccardo R; Mahmoud, Abdurraouf Mokhtar AM; Rossi, Davide D; Gaidano, Gianluca G; Plass, Christoph C; Lutsik, Pavlo P; Gerhauser, Clarissa C; Waszak, Sebastian M SM; Boettiger, Alistair A; Radtke, Freddy F; Deplancke, Bart B

Publication Date: 2022-04-19

Variant appearance in text: rs2240308

PubMed Link: 35440565

Variant Present in the following documents:

• Main text
• 41467_2022_Article_29625.pdf

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: AXIN2: 148C>T; Pro50Ser

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 8

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: AXIN2: 148C>T; P50S

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.

Scientific Reports

Slavec, Lara L; Karas Kuželički, Nataša N; Locatelli, Igor I; Geršak, Ksenija K

Publication Date: 2022-01-24

Variant appearance in text: rs2240308

PubMed Link: 35075162

Variant Present in the following documents:

• Main text
• 41598_2021_Article_2159.pdf

View BVdb publication page

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Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.

Scientific Reports

Slavec, Lara L; Karas Kuželički, Nataša N; Locatelli, Igor I; Geršak, Ksenija K

Publication Date: 2022-01-24

Variant appearance in text: rs2240308

PubMed Link: 35075162

Variant Present in the following documents:

• Main text
• 41598_2021_Article_2159.pdf

View BVdb publication page

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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: AXIN2: P50S

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

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: AXIN2: P50S; rs2240308

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: AXIN2: P50S; rs2240308

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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Functional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation.

Stem Cells International

Pan, Yuhua Y; Lu, Ting T; Peng, Ling L; Zeng, Qi Q; Huang, Xiangyu X; Yao, Xinchen X; Wu, Buling B; Xiong, Fu F

Publication Date: 2021

Variant appearance in text: rs2240308

PubMed Link: 34545288

Variant Present in the following documents:

• SCI2021-7653013.pdf

View BVdb publication page

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Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk.

Frontiers In Molecular Biosciences

Li, Xiaoying X; Wu, Qijun Q; Zhou, Baosen B; Liu, Yashu Y; Lv, Jiale J; Chang, Qing Q; Zhao, Yuhong Y

Publication Date: 2021

Variant appearance in text: rs2240308

PubMed Link: 34540891

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of AXIN2 s2240308 C>T, rs1133683 C>T, rs7224837 A>G Polymorphisms with Susceptibility to Breast Cancer.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Sayad, Soheila S; Abdi-Gamsae, Mahdieh M; Jafari-Nedooshan, Jamal J; Farbod, Meraj M; Dastgheib, Seyed Alireza SA; Karimi-Zarchi, Mojgan M; Asadian, Fatemeh F; Neamatzadeh, Hossein H

Publication Date: 2021-08-01

Variant appearance in text: rs2240308

PubMed Link: 34452579

Variant Present in the following documents:

• Main text
• APJCP-22-2717.pdf

View BVdb publication page

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A comprehensive meta-analysis and a case-control study give insights into genetic susceptibility of lung cancer and subgroups.

Scientific Reports

Sengupta, Debmalya D; Banerjee, Souradeep S; Mukhopadhyay, Pramiti P; Mitra, Ritabrata R; Chaudhuri, Tamohan T; Sarkar, Abhijit A; Bhattacharjee, Gautam G; Nath, Somsubhra S; Roychoudhury, Susanta S; Bhattacharjee, Samsiddhi S; Sengupta, Mainak M

Publication Date: 2021-07-16

Variant appearance in text: rs2240308

PubMed Link: 34272429

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92275.pdf

View BVdb publication page

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Random survival forests identify pathways with polymorphisms predictive of survival in KRAS mutant and KRAS wild-type metastatic colorectal cancer patients.

Scientific Reports

Naseem, Madiha M; Cao, Shu S; Yang, Dongyun D; Millstein, Joshua J; Puccini, Alberto A; Loupakis, Fotios F; Stintzing, Sebastian S; Cremolini, Chiara C; Tokunaga, Ryuma R; Battaglin, Francesca F; Soni, Shivani S; Berger, Martin D MD; Barzi, Afsaneh A; Zhang, Wu W; Falcone, Alfredo A; Heinemann, Volker V; Lenz, Heinz-Josef HJ

Publication Date: 2021-06-09

Variant appearance in text: rs2240308

PubMed Link: 34108518

Variant Present in the following documents:

• Main text
• 41598_2021_Article_91330.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: AXIN2: 148C>T; P50S; rs2240308

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in the Gene Encoding Caspase 8 May Predict the Response to First-Line Platinum-Based Chemotherapy in Locally Advanced or Advanced Non-Small-Cell Lung Cancer.

Journal Of Clinical Medicine

Szczyrek, Michał M; Mlak, Radosław R; Szudy-Szczyrek, Aneta A; Kędziora, Karolina K; Małecka-Massalska, Teresa T; Krawczyk, Paweł P; Milanowski, Janusz J

Publication Date: 2021-03-08

Variant appearance in text: rs2240308

PubMed Link: 33800294

Variant Present in the following documents:

• Main text
• jcm-10-01126.pdf

View BVdb publication page

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New insights of the correlation between AXIN2 polymorphism and cancer risk and susceptibility: evidence from 72 studies.

Bmc Cancer

Li, Xi X; Li, Yiming Y; Liu, Guodong G; Wu, Wei W

Publication Date: 2021-04-01

Variant appearance in text: rs2240308

PubMed Link: 33794810

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: AXIN2: 148C>T; P50S; rs2240308

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

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: rs2240308

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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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: AXIN2: P50S; rs2240308

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 10
• CTM2-11-e285-s003.xlsx, sheet 18
• CTM2-11-e285-s003.xlsx, sheet 9
• CTM2-11-e285-s003.xlsx, sheet 17

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: AXIN2: 148C>T; P50S; rs2240308

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

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: AXIN2: 148C>T; P50S

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: AXIN2: Pro50Ser

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: AXIN2: 148C>T; P50S; rs2240308

PubMed Link: 33240400

Variant Present in the following documents:

• Main text

View BVdb publication page

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Significant Associations between AXIN1 rs1805105, rs12921862, rs370681 Haplotypes and Variant Genotypes of AXIN2 rs2240308 with Risk of Congenital Heart Defects.

International Journal Of Environmental Research And Public Health

Crauciuc, George Andrei GA; Iancu, Mihaela M; Olah, Peter P; Tripon, Florin F; Anciuc, Mădălina M; Gozar, Liliana L; Togănel, Rodica R; Bănescu, Claudia C

Publication Date: 2020-10-21

Variant appearance in text: AXIN2: 148C>T; Pro50Ser; rs2240308

PubMed Link: 33096676

Variant Present in the following documents:

• Main text
• ijerph-17-07671.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: AXIN2: P50S; rs2240308

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: rs2240308

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Phenome-Wide Scan Finds Potential Orofacial Risk Markers for Cancer.

Scientific Reports

Bezamat, Mariana M; Harrison, Benjamin B; Zhou, Yuqiao Y; Glickman, Katherine M KM; Telles, Vicente V; Guirguis, Christopher C; Modesto, Adriana A; Vieira, Alexandre R AR

Publication Date: 2020-03-17

Variant appearance in text: rs2240308

PubMed Link: 32184411

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: AXIN2: 148C>T; P50S; rs2240308

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Cells

Hartman, Mariusz L ML; Sztiller-Sikorska, Malgorzata M; Gajos-Michniewicz, Anna A; Czyz, Malgorzata M

Publication Date: 2020-01-07

Variant appearance in text: AXIN2: P50S

PubMed Link: 31936151

Variant Present in the following documents:

• cells-09-00142-s001.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: AXIN2: P50S

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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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: AXIN2: 148C>T; Pro50Ser

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 10

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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut

Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J

Publication Date: 2020-08

Variant appearance in text: AXIN2: P50S; rs2240308

PubMed Link: 31818908

Variant Present in the following documents:

• Main text

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Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia.

Biomed Research International

Mártha, Krisztina K; Kerekes Máthé, Bernadette B; Moldovan, Valeriu George VG; Bănescu, Claudia C

Publication Date: 2019

Variant appearance in text: rs2240308

PubMed Link: 31781599

Variant Present in the following documents:

• Main text
• BMRI2019-2183720.pdf

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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: AXIN2: 148C>T; Pro50Ser; rs2240308

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Assessment of biochemical recurrence of prostate cancer (Review).

International Journal Of Oncology

Lin, Xiaozeng X; Kapoor, Anil A; Gu, Yan Y; Chow, Mathilda Jing MJ; Xu, Hui H; Major, Pierre P; Tang, Damu D

Publication Date: 2019-12

Variant appearance in text: rs2240308

PubMed Link: 31638194

Variant Present in the following documents:

• Main text

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Variations in AXIN2 predict risk and prognosis of colorectal cancer.

Bdj Open

Otero, L L; Lacunza, E E; Vasquez, V V; Arbelaez, V V; Cardier, F F; González, F F

Publication Date: 2019

Variant appearance in text: rs2240308

PubMed Link: 31632692

Variant Present in the following documents:

• Main text
• 41405_2019_Article_22.pdf

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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: AXIN2: P50S; rs2240308

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 2

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New insights into the association between AXIN2 148 C/T, 1365 C/T, and rs4791171 A/G variants and cancer risk.

Cancer Cell International

Xu, Bin B; Yuan, Wei W; Shi, Li L; Zuo, Li L; Wu, Xing-Yu XY; Zhang, Wei W; Wen, Qiaxian Q

Publication Date: 2019

Variant appearance in text: rs2240308

PubMed Link: 31080360

Variant Present in the following documents:

• Main text
• 12935_2019_Article_840.pdf

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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: AXIN2: P50S; rs2240308

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

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