Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: TP53: 989T>C; Leu330Pro

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Dual guide RNA-mediated concurrent C&G-to-T&A and A&T-to-G&C conversions using CRISPR base editors.

Computational And Structural Biotechnology Journal

Zhao, Yuting Y; Li, Min M; Liu, Jie J; Xue, Xiaowen X; Zhong, Jingli J; Lin, Jianxiang J; Ye, Bo B; Chen, Jun J; Qiao, Yunbo Y

Publication Date: 2023

Variant appearance in text: TP53: L330P

PubMed Link: 36698964

Variant Present in the following documents:

• Main text
• main.pdf

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 989T>C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Nature Communications

Wu, Liqun L; Yao, Herui H; Chen, Hui H; Wang, Aodi A; Guo, Kun K; Gou, Wenli W; Yu, Yanfei Y; Li, Xiang X; Yao, Ming M; Yuan, Shaohua S; Pang, Fei F; Hu, Jinwei J; Chen, Lijuan L; Liu, Wenjin W; Yao, Jicheng J; Zhang, Shuirong S; Dong, Xiaowei X; Wang, Weifeng W; Hu, Jing J; Ling, Qi Q; Ding, Songming S; Wei, Yan Y; Li, Qiang Q; Cao, Weichun W; Wang, Shuang S; Di, Yang Y; Feng, Feiling F; Zhao, Gang G; Zhang, Jian J; Huang, Ling L; Xu, Jia J; Yan, Wangjun W; Tong, Zhongsheng Z; Jiang, Da D; Ji, Tao T; Li, Qiao Q; Xu, Ling L; He, Huiying H; Shang, Liang L; Liu, Jin J; Wang, Kefeng K; Wu, Duoguang D; Shen, Jingnan J; Liu, Ye Y; Zhang, Ting T; Liang, Chaojie C; Wang, Yusheng Y; Shang, Yanhong Y; Guo, Jianji J; Liang, Guanbiao G; Xu, Shifeng S; Liu, Junfeng J; Wang, Kai K; Wang, Minghui M

Publication Date: 2022-07-23

Variant appearance in text: TP53: L330P

PubMed Link: 35871175

Variant Present in the following documents:

• 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: TP53: 989T>C; L330P

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: TP53: L330P

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine

Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP

Publication Date: 2022-06

Variant appearance in text: TP53: 989T>C; Leu330Pro

PubMed Link: 35617825

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TP53: L330P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica

Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS

Publication Date: 2022-08-01

Variant appearance in text: TP53: 989T>C; Leu330Pro

PubMed Link: 34587721

Variant Present in the following documents:

• 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 989T>C; L330P

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9

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p53/p73 Protein Network in Colorectal Cancer and Other Human Malignancies.

Cancers

Horvat, Anđela A; Tadijan, Ana A; Vlašić, Ignacija I; Slade, Neda N

Publication Date: 2021-06-09

Variant appearance in text: p53: L330P

PubMed Link: 34207603

Variant Present in the following documents:

• Main text
• cancers-13-02885.pdf

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Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.

Frontiers In Oncology

Liu, Tao T; Yao, Qianqian Q; Jin, Hai H

Publication Date: 2021

Variant appearance in text: TP53: 989T>C; L330P

PubMed Link: 34094900

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 3

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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: TP53: 989T>C; L330P

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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p53 tetramerization: at the center of the dominant-negative effect of mutant p53.

Genes & Development

Gencel-Augusto, Jovanka J; Lozano, Guillermina G

Publication Date: 2020-09-01

Variant appearance in text: p53: L330P

PubMed Link: 32873579

Variant Present in the following documents:

• Main text
• 1128.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TP53: L330P

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: L330P

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: p53: L330P

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: TP53: 989T>C; L330P

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

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Genetically encoded tags for real time dissection of protein assembly in living cells.

Chemical Science

Ma, Guolin G; Zhang, Qian Q; He, Lian L; Nguyen, Nhung T NT; Liu, Shuzhong S; Gong, Zuojiong Z; Huang, Yun Y; Zhou, Yubin Y

Publication Date: 2018-07-07

Variant appearance in text: p53: L330P

PubMed Link: 30061986

Variant Present in the following documents:

• Main text
• SC-009-C8SC00839F.pdf
• SC-009-C8SC00839F-s002.pdf
• SC-009-C8SC00839F-s001.pdf

View BVdb publication page

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: TP53: 989T>C; L330P

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: L330P

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s007.xlsx, sheet 1
• pone.0189881.s008.xlsx, sheet 1

View BVdb publication page

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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: TP53: L330P

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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Pazolimus: pazopanib plus sirolimus following progression on pazopanib, a retrospective case series analysis.

Bmc Cancer

Katz, D D; Azraq, Y Y; Eleyan, F F; Gill, S S; Peretz, T T; Merimsky, O O

Publication Date: 2016-08-08

Variant appearance in text: TP53: L330P

PubMed Link: 27501793

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2618.pdf

View BVdb publication page

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REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports

Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF

Publication Date: 2016-03-15

Variant appearance in text: TP53: L330P

PubMed Link: 26975833

Variant Present in the following documents:

• srep23167-s9.xls, sheet 1

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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: TP53: L330P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: L330P

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

Nature Medicine

Van Allen, Eliezer M EM; Wagle, Nikhil N; Stojanov, Petar P; Perrin, Danielle L DL; Cibulskis, Kristian K; Marlow, Sara S; Jane-Valbuena, Judit J; Friedrich, Dennis C DC; Kryukov, Gregory G; Carter, Scott L SL; McKenna, Aaron A; Sivachenko, Andrey A; Rosenberg, Mara M; Kiezun, Adam A; Voet, Douglas D; Lawrence, Michael M; Lichtenstein, Lee T LT; Gentry, Jeff G JG; Huang, Franklin W FW; Fostel, Jennifer J; Farlow, Deborah D; Barbie, David D; Gandhi, Leena L; Lander, Eric S ES; Gray, Stacy W SW; Joffe, Steven S; Janne, Pasi P; Garber, Judy J; MacConaill, Laura L; Lindeman, Neal N; Rollins, Barrett B; Kantoff, Philip P; Fisher, Sheila A SA; Gabriel, Stacey S; Getz, Gad G; Garraway, Levi A LA

Publication Date: 2014-06

Variant appearance in text: p53: L330P

PubMed Link: 24836576

Variant Present in the following documents:

• NIHMS531666-supplement-10.xlsx, sheet 1

View BVdb publication page

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Tetramerization-defects of p53 result in aberrant ubiquitylation and transcriptional activity.

Molecular Oncology

Lang, Valérie V; Pallara, Chiara C; Zabala, Amaia A; Lobato-Gil, Sofia S; Lopitz-Otsoa, Fernando F; Farrás, Rosa R; Hjerpe, Roland R; Torres-Ramos, Monica M; Zabaleta, Lorea L; Blattner, Christine C; Hay, Ronald T RT; Barrio, Rosa R; Carracedo, Arkaitz A; Fernandez-Recio, Juan J; Rodríguez, Manuel S MS; Aillet, Fabienne F

Publication Date: 2014-07

Variant appearance in text: p53: L330P

PubMed Link: 24816189

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: TP53: L330P

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

The Journal Of Biological Chemistry

Kamada, Rui R; Nomura, Takao T; Anderson, Carl W CW; Sakaguchi, Kazuyasu K

Publication Date: 2011-01-07

Variant appearance in text: p53: L330P

PubMed Link: 20978130

Variant Present in the following documents:

• Main text

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Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.

Genomic Medicine

Merritt, Joshua J; Roberts, Kim G KG; Butz, James A JA; Edwards, Jeremy S JS

Publication Date: 2007

Variant appearance in text: p53: Leu330Pro

PubMed Link: 18923936

Variant Present in the following documents:

• Main text

View BVdb publication page

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