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: 1129A>G; Thr377Ala

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs774269719

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

View BVdb publication page

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Deciphering the acetylation code of p53 in transcription regulation and tumor suppression.

Oncogene

Xia, Zhangchuan Z; Kon, Ning N; Gu, Alyssa P AP; Tavana, Omid O; Gu, Wei W

Publication Date: 2022-05

Variant appearance in text: p53: T377A

PubMed Link: 35487975

Variant Present in the following documents:

• nihms-1800386.pdf

View BVdb publication page

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Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications

Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D

Publication Date: 2022-04-21

Variant appearance in text: TP53: T377A

PubMed Link: 35449156

Variant Present in the following documents:

• 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1

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: 1129A>G; Thr377Ala

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs774269719

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs774269719

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 1129A>G; Thr377Ala

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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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: 1129A>G

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

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: T377A

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Leucine-Rich Repeat Kinase 2 (LRRK2) phosphorylates p53 and induces p21(WAF1/CIP1) expression.

Molecular Brain

Ho, Dong Hwan DH; Kim, Hyejung H; Kim, Jisun J; Sim, Hyuna H; Ahn, Hyunjun H; Kim, Janghwan J; Seo, Hyemyung H; Chung, Kwang Chul KC; Park, Bum-Joon BJ; Son, Ilhong I; Seol, Wongi W

Publication Date: 2015-09-18

Variant appearance in text: p53: T377A

PubMed Link: 26384650

Variant Present in the following documents:

• Main text

View BVdb publication page

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p53 Acetylation: Regulation and Consequences.

Cancers

Reed, Sara M SM; Quelle, Dawn E DE

Publication Date: 2014-12-23

Variant appearance in text: p53: T377A

PubMed Link: 25545885

Variant Present in the following documents:

• Main text
• cancers-07-00030.pdf

View BVdb publication page

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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: T377A

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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Regulation of Chk1 by its C-terminal domain.

Molecular Biology Of The Cell

Kosoy, Ana A; O'Connell, Matthew J MJ

Publication Date: 2008-11

Variant appearance in text: p53: T377A

PubMed Link: 18716058

Variant Present in the following documents:

• Main text

View BVdb publication page

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p53 C-terminal phosphorylation by CHK1 and CHK2 participates in the regulation of DNA-damage-induced C-terminal acetylation.

Molecular Biology Of The Cell

Ou, Yi-Hung YH; Chung, Pei-Han PH; Sun, Te-Ping TP; Shieh, Sheau-Yann SY

Publication Date: 2005-04

Variant appearance in text: p53: T377A

PubMed Link: 15659650

Variant Present in the following documents:

• Main text

View BVdb publication page

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