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: 914A>G; Lys305Arg

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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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: K305R

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: TP53: 914A>G; K305R

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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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: K305R

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Comprehensive Genomic Profiling of Hodgkin Lymphoma Reveals Recurrently Mutated Genes and Increased Mutation Burden.

The Oncologist

Liang, Winnie S WS; Vergilio, Jo-Anne JA; Salhia, Bodour B; Huang, Helen J HJ; Oki, Yasuhiro Y; Garrido-Laguna, Ignacio I; Park, Haeseong H; Westin, Jason R JR; Meric-Bernstam, Funda F; Fabrizio, David D; Miller, Vincent A VA; Stephens, Philip J PJ; Fanale, Michelle A MA; Ross, Jeffrey S JS; Janku, Filip F

Publication Date: 2019-02

Variant appearance in text: TP53: K305R

PubMed Link: 30108156

Variant Present in the following documents:

• onco12682.pdf

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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: K305R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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Synergy between histone deacetylase inhibitors and DNA-damaging agents is mediated by histone deacetylase 2 in colorectal cancer.

Oncotarget

Alzoubi, Samer S; Brody, Leigh L; Rahman, Sunniyat S; Mahul-Mellier, Anne-Laure AL; Mercado, Nicolas N; Ito, Kazuhiro K; El-Bahrawy, Mona M; Silver, Andrew A; Boobis, Alan A; Bell, Jimmy D JD; Hajji, Nabil N

Publication Date: 2016-07-12

Variant appearance in text: TP53: K305R

PubMed Link: 27283986

Variant Present in the following documents:

• Main text
• oncotarget-07-44505.pdf

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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: K305R

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: K305R

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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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: K305R

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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RNA content in the nucleolus alters p53 acetylation via MYBBP1A.

The Embo Journal

Kuroda, Takao T; Murayama, Akiko A; Katagiri, Naohiro N; Ohta, Yu-mi YM; Fujita, Etsuko E; Masumoto, Hiroshi H; Ema, Masatsugu M; Takahashi, Satoru S; Kimura, Keiji K; Yanagisawa, Junn J

Publication Date: 2011-03-16

Variant appearance in text: p53: K305R

PubMed Link: 21297583

Variant Present in the following documents:

• Main text

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Identification of p53 sequence elements that are required for MDM2-mediated nuclear export.

Molecular And Cellular Biology

Gu, J J; Nie, L L; Wiederschain, D D; Yuan, Z M ZM

Publication Date: 2001-12

Variant appearance in text: p53: K305R

PubMed Link: 11713288

Variant Present in the following documents:

• Main text

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