TP53 c.1157A>G ;(p.K386R)

Variant ID: 17-7572952-T-C

NM_000546.5(TP53):c.1157A>G;(p.K386R)

This variant was identified in 44 publications

View GRCh38 version.




Publications:


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: 1157A>G; Lys386Arg
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
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p53 SUMOylation Mediates AOPP-Induced Endothelial Senescence and Apoptosis Evasion.

Frontiers In Cardiovascular Medicine
Chen, Yanjia Y; Liu, Zhuanhua Z; Chen, Hongyu H; Huang, Xingfu X; Huang, Xiaoxia X; Lei, Yang Y; Liang, Qing Q; Wei, Jiayi J; Zhang, Qin Q; Guo, Xiaohua X; Huang, Qiaobing Q
Publication Date: 2021

Variant appearance in text: TP53: K386R
PubMed Link: 35187108
Variant Present in the following documents:
  • Main text
  • fcvm-08-795747.pdf
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The E3 Ligase PIAS1 Regulates p53 Sumoylation to Control Stress-Induced Apoptosis of Lens Epithelial Cells Through the Proapoptotic Regulator Bax.

Frontiers In Cell And Developmental Biology
Nie, Qian Q; Chen, Huimin H; Zou, Ming M; Wang, Ling L; Hou, Min M; Xiang, Jia-Wen JW; Luo, Zhongwen Z; Gong, Xiao-Dong XD; Fu, Jia-Ling JL; Wang, Yan Y; Zheng, Shu-Yu SY; Xiao, Yuan Y; Gan, Yu-Wen YW; Gao, Qian Q; Bai, Yue-Yue YY; Wang, Jing-Miao JM; Zhang, Lan L; Tang, Xiang-Cheng XC; Hu, Xuebin X; Gong, Lili L; Liu, Yizhi Y; Li, David Wan-Cheng DW
Publication Date: 2021

Variant appearance in text: p53: K386R
PubMed Link: 34195189
Variant Present in the following documents:
  • Main text
  • fcell-09-660494.pdf
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Dysfunction of X-linked inhibitor of apoptosis protein (XIAP) triggers neuropathological processes via altered p53 activity in Huntington's disease.

Progress In Neurobiology
Hyeon, Seung Jae SJ; Park, Jinyoung J; Yoo, Junsang J; Kim, Su-Hyun SH; Hwang, Yu Jin YJ; Kim, Seung-Chan SC; Liu, Tian T; Shim, Hyun Soo HS; Kim, Yunha Y; Cho, Yakdol Y; Woo, Jiwan J; Kim, Key-Sun KS; Myers, Richard H RH; Ryu, Hannah L HL; Kowall, Neil W NW; Song, Eun Joo EJ; Hwang, Eun Mi EM; Seo, Hyemyung H; Lee, Junghee J; Ryu, Hoon H
Publication Date: 2021-09

Variant appearance in text: p53: K386R
PubMed Link: 34166773
Variant Present in the following documents:
  • Main text
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mTOR inhibition acts as an unexpected checkpoint in p53-mediated tumor suppression.

Genes & Development
Kon, Ning N; Ou, Yang Y; Wang, Shang-Jui SJ; Li, Huan H; Rustgi, Anil K AK; Gu, Wei W
Publication Date: 2021-01-01

Variant appearance in text: p53: K386R
PubMed Link: 33303641
Variant Present in the following documents:
  • Main text
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The Function of SUMOylation and Its Role in the Development of Cancer Cells under Stress Conditions: A Systematic Review.

Stem Cells International
Zhao, Qi Q; Ma, Ying Y; Li, Zugui Z; Zhang, Kexin K; Zheng, Minying M; Zhang, Shiwu S
Publication Date: 2020

Variant appearance in text: p53: K386R
PubMed Link: 33273928
Variant Present in the following documents:
  • Main text
  • SCI2020-8835714.pdf
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Glycogen synthase kinase (GSK)-3 and the double-strand RNA-dependent kinase, PKR: When two kinases for the common good turn bad.

Biochimica Et Biophysica Acta. Molecular Cell Research
Piazzi, Manuela M; Bavelloni, Alberto A; Faenza, Irene I; Blalock, William W
Publication Date: 2020-10

Variant appearance in text: p53: K386R
PubMed Link: 32512016
Variant Present in the following documents:
  • Main text
  • main.pdf
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SUMO3 modification by PIAS1 modulates androgen receptor cellular distribution and stability.

Cell Communication And Signaling : Ccs
Yang, Nanyang N; Liu, Sitong S; Qin, Tian T; Liu, Xintong X; Watanabe, Nobumoto N; Mayo, Kevin H KH; Li, Jiang J; Li, Xiaomeng X
Publication Date: 2019-11-21

Variant appearance in text: p53: K386R
PubMed Link: 31752909
Variant Present in the following documents:
  • Main text
  • 12964_2019_Article_457.pdf
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Heterochromatin protects retinal pigment epithelium cells from oxidative damage by silencing p53 target genes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gong, Lili L; Liu, Fangyuan F; Xiong, Zhen Z; Qi, Ruili R; Luo, Zhongwen Z; Gong, Xiaodong X; Nie, Qian Q; Sun, Qian Q; Liu, Yun-Fei YF; Qing, Wenjie W; Wang, Ling L; Zhang, Lan L; Tang, Xiangcheng X; Huang, Shan S; Li, Gen G; Ouyang, Hong H; Xiang, Mengqing M; Nguyen, Quan Dong QD; Liu, Yizhi Y; Li, David Wan-Cheng DW
Publication Date: 2018-04-24

Variant appearance in text: p53: K386R
PubMed Link: 29622681
Variant Present in the following documents:
  • Main text
  • pnas.201715237.pdf
  • pnas.201715237SI.pdf
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USP15-dependent lysosomal pathway controls p53-R175H turnover in ovarian cancer cells.

Nature Communications
Padmanabhan, Achuth A; Candelaria, Nicholes N; Wong, Kwong-Kwok KK; Nikolai, Bryan C BC; Lonard, David M DM; O'Malley, Bert W BW; Richards, JoAnne S JS
Publication Date: 2018-03-28

Variant appearance in text: p53: K386R
PubMed Link: 29593334
Variant Present in the following documents:
  • 41467_2018_3599_MOESM1_ESM.pdf
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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: K386R
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s008.xlsx, sheet 1
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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: K386R
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
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PML IV/ARF interaction enhances p53 SUMO-1 conjugation, activation, and senescence.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ivanschitz, Lisa L; Takahashi, Yuki Y; Jollivet, Florence F; Ayrault, Olivier O; Le Bras, Morgane M; de Thé, Hugues H
Publication Date: 2015-11-17

Variant appearance in text: p53: K386R
PubMed Link: 26578773
Variant Present in the following documents:
  • Main text
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Whole-genome resequencing analyses of five pig breeds, including Korean wild and native, and three European origin breeds.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Choi, Jung-Woo JW; Chung, Won-Hyong WH; Lee, Kyung-Tai KT; Cho, Eun-Seok ES; Lee, Si-Woo SW; Choi, Bong-Hwan BH; Lee, Sang-Heon SH; Lim, Wonjun W; Lim, Dajeong D; Lee, Yun-Gyeong YG; Hong, Joon-Ki JK; Kim, Doo-Wan DW; Jeon, Hyeon-Jeong HJ; Kim, Jiwoong J; Kim, Namshin N; Kim, Tae-Hun TH
Publication Date: 2015-08

Variant appearance in text: p53: K386R
PubMed Link: 26117497
Variant Present in the following documents:
  • supp_dsv011_dsv011supp_table2.xlsx, sheet 2
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MEL-18 loss mediates estrogen receptor-α downregulation and hormone independence.

The Journal Of Clinical Investigation
Lee, Jeong-Yeon JY; Won, Hee-Young HY; Park, Ji-Hye JH; Kim, Hye-Yeon HY; Choi, Hee-Joo HJ; Shin, Dong-Hui DH; Kang, Ju-Hee JH; Woo, Jong-Kyu JK; Oh, Seung-Hyun SH; Son, Taekwon T; Choi, Jin-Woo JW; Kim, Sehwan S; Kim, Hyung-Yong HY; Yi, Kijong K; Jang, Ki-Seok KS; Oh, Young-Ha YH; Kong, Gu G
Publication Date: 2015-05

Variant appearance in text: p53: K386R
PubMed Link: 25822021
Variant Present in the following documents:
  • Main text
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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: K386R
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
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PIASxα ligase enhances SUMO1 modification of PTEN protein as a SUMO E3 ligase.

The Journal Of Biological Chemistry
Wang, Weibin W; Chen, Yifan Y; Wang, Shuya S; Hu, Ningguang N; Cao, Zhengyi Z; Wang, Wengong W; Tong, Tanjun T; Zhang, Xiaowei X
Publication Date: 2014-02-07

Variant appearance in text: p53: K386R
PubMed Link: 24344134
Variant Present in the following documents:
  • Main text
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Herpesvirus-associated ubiquitin-specific protease (HAUSP) modulates peroxisome proliferator-activated receptor γ (PPARγ) stability through its deubiquitinating activity.

The Journal Of Biological Chemistry
Lee, Kyeong Won KW; Cho, Jin Gu JG; Kim, Chul Min CM; Kang, A Young AY; Kim, Min M; Ahn, Byung Yong BY; Chung, Sung Soo SS; Lim, Key-Hwan KH; Baek, Kwang-Hyun KH; Sung, Jong-Hyuk JH; Park, Kyong Soo KS; Park, Sang Gyu SG
Publication Date: 2013-11-15

Variant appearance in text: p53: K386R
PubMed Link: 24072712
Variant Present in the following documents:
  • Main text
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SUMOylation of p53 mediates interferon activities.

Cell Cycle (Georgetown, Tex.)
Marcos-Villar, Laura L; Pérez-Girón, José V JV; Vilas, Jéssica M JM; Soto, Atenea A; de la Cruz-Hererra, Carlos F CF; Lang, Valerie V; Collado, Manuel M; Vidal, Anxo A; Rodríguez, Manuel S MS; Muñoz-Fontela, César C; Rivas, Carmen C
Publication Date: 2013-09-01

Variant appearance in text: p53: K386R
PubMed Link: 23966171
Variant Present in the following documents:
  • Main text
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Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor.

Gastroenterology
Murphy, Stephen J SJ; Hart, Steven N SN; Lima, Joema Felipe JF; Kipp, Benjamin R BR; Klebig, Mitchell M; Winters, Jennifer L JL; Szabo, Csilla C; Zhang, Lizhi L; Eckloff, Bruce W BW; Petersen, Gloria M GM; Scherer, Steven E SE; Gibbs, Richard A RA; McWilliams, Robert R RR; Vasmatzis, George G; Couch, Fergus J FJ
Publication Date: 2013-11

Variant appearance in text: TP53: K386R
PubMed Link: 23912084
Variant Present in the following documents:
  • Main text
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p53 SUMOylation promotes its nuclear export by facilitating its release from the nuclear export receptor CRM1.

Molecular Biology Of The Cell
Santiago, Aleixo A; Li, Dawei D; Zhao, Lisa Y LY; Godsey, Adam A; Liao, Daiqing D
Publication Date: 2013-09

Variant appearance in text: p53: K386R
PubMed Link: 23825024
Variant Present in the following documents:
  • Main text
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XIAP inhibits autophagy via XIAP-Mdm2-p53 signalling.

The Embo Journal
Huang, Xing X; Wu, Zhengsheng Z; Mei, Yide Y; Wu, Mian M
Publication Date: 2013-08-14

Variant appearance in text: p53: K386R
PubMed Link: 23749209
Variant Present in the following documents:
  • Main text
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De-SUMOylation enzyme of sentrin/SUMO-specific protease 2 regulates disturbed flow-induced SUMOylation of ERK5 and p53 that leads to endothelial dysfunction and atherosclerosis.

Circulation Research
Heo, Kyung-Sun KS; Chang, Eugene E; Le, Nhat-Tu NT; Cushman, Hannah H; Yeh, Edward T H ET; Fujiwara, Keigi K; Abe, Jun-ichi J
Publication Date: 2013-03-15

Variant appearance in text: p53: K386R
PubMed Link: 23381569
Variant Present in the following documents:
  • Main text
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Phosphorylation of protein inhibitor of activated STAT1 (PIAS1) by MAPK-activated protein kinase-2 inhibits endothelial inflammation via increasing both PIAS1 transrepression and SUMO E3 ligase activity.

Arteriosclerosis, Thrombosis, And Vascular Biology
Heo, Kyung-Sun KS; Chang, Eugene E; Takei, Yuichiro Y; Le, Nhat-Tu NT; Woo, Chang-Hoon CH; Sullivan, Mark A MA; Morrell, Craig C; Fujiwara, Keigi K; Abe, Jun-ichi J
Publication Date: 2013-02

Variant appearance in text: p53: K386R
PubMed Link: 23202365
Variant Present in the following documents:
  • Main text
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Modification by ubiquitin-like proteins: significance in apoptosis and autophagy pathways.

International Journal Of Molecular Sciences
Cajee, Umar-Faruq UF; Hull, Rodney R; Ntwasa, Monde M
Publication Date: 2012

Variant appearance in text: p53: K386R
PubMed Link: 23109884
Variant Present in the following documents:
  • Main text
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Modification by ubiquitin-like proteins: significance in apoptosis and autophagy pathways.

International Journal Of Molecular Sciences
Cajee, Umar-Faruq UF; Hull, Rodney R; Ntwasa, Monde M
Publication Date: 2012

Variant appearance in text: p53: K386R
PubMed Link: 23109884
Variant Present in the following documents:
  • Main text
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PIASy-mediated Tip60 sumoylation regulates p53-induced autophagy.

Cell Cycle (Georgetown, Tex.)
Naidu, Samisubbu R SR; Lakhter, Alexander J AJ; Androphy, Elliot J EJ
Publication Date: 2012-07-15

Variant appearance in text: p53: K386R
PubMed Link: 22751435
Variant Present in the following documents:
  • Main text
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The RAX/PACT-PKR stress response pathway promotes p53 sumoylation and activation, leading to G₁ arrest.

Cell Cycle (Georgetown, Tex.)
Bennett, Richard L RL; Pan, Yu Y; Christian, Jaime J; Hui, Teng T; May, W Stratford WS
Publication Date: 2012-01-15

Variant appearance in text: p53: K386R
PubMed Link: 22214662
Variant Present in the following documents:
  • Main text
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MDM2 promotes SUMO-2/3 modification of p53 to modulate transcriptional activity.

Cell Cycle (Georgetown, Tex.)
Stindt, Maren H MH; Carter, Stephanie S; Vigneron, Arnaud M AM; Ryan, Kevin M KM; Vousden, Karen H KH
Publication Date: 2011-09-15

Variant appearance in text: p53: K386R
PubMed Link: 21900752
Variant Present in the following documents:
  • Main text
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PKCζ mediates disturbed flow-induced endothelial apoptosis via p53 SUMOylation.

The Journal Of Cell Biology
Heo, Kyung-Sun KS; Lee, Hakjoo H; Nigro, Patrizia P; Thomas, Tamlyn T; Le, Nhat-Tu NT; Chang, Eugene E; McClain, Carolyn C; Reinhart-King, Cynthia A CA; King, Michael R MR; Berk, Bradford C BC; Fujiwara, Keigi K; Woo, Chang-Hoon CH; Abe, Jun-ichi J
Publication Date: 2011-05-30

Variant appearance in text: p53: K386R
PubMed Link: 21624955
Variant Present in the following documents:
  • Main text
  • JCB_201010051.pdf
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Adenovirus E1B 55-kilodalton protein is a p53-SUMO1 E3 ligase that represses p53 and stimulates its nuclear export through interactions with promyelocytic leukemia nuclear bodies.

Journal Of Virology
Pennella, Mario A MA; Liu, Yue Y; Woo, Jennifer L JL; Kim, Chongwoo A CA; Berk, Arnold J AJ
Publication Date: 2010-12

Variant appearance in text: p53: K386R
PubMed Link: 20861261
Variant Present in the following documents:
  • Main text
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Crosstalk between sumoylation and acetylation regulates p53-dependent chromatin transcription and DNA binding.

The Embo Journal
Wu, Shwu-Yuan SY; Chiang, Cheng-Ming CM
Publication Date: 2009-05-06

Variant appearance in text: p53: K386R
PubMed Link: 19339993
Variant Present in the following documents:
  • Main text
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Mutually exclusive STAT1 modifications identified by Ubc9/substrate dimerization-dependent SUMOylation.

Nucleic Acids Research
Zimnik, Susan S; Gaestel, Matthias M; Niedenthal, Rainer R
Publication Date: 2009-03

Variant appearance in text: p53: K386R
PubMed Link: 19174562
Variant Present in the following documents:
  • Main text
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The novel PIAS-like protein hZimp10 is a transcriptional co-activator of the p53 tumor suppressor.

Nucleic Acids Research
Lee, Jane J; Beliakoff, Jason J; Sun, Zijie Z
Publication Date: 2007

Variant appearance in text: p53: K386R
PubMed Link: 17584785
Variant Present in the following documents:
  • nar_gkm476_2.pdf
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PIASy-mediated sumoylation of Yin Yang 1 depends on their interaction but not the RING finger.

Molecular And Cellular Biology
Deng, Zhiyong Z; Wan, Meimei M; Sui, Guangchao G
Publication Date: 2007-05

Variant appearance in text: p53: K386R
PubMed Link: 17353273
Variant Present in the following documents:
  • Main text
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Ubiquitin and ubiquitin-like modifications of the p53 family.

Neoplasia (New York, N.Y.)
Watson, Ian R IR; Irwin, Meredith S MS
Publication Date: 2006-08

Variant appearance in text: p53: K386R
PubMed Link: 16925948
Variant Present in the following documents:
  • Main text
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Zimp7 and Zimp10, two novel PIAS-like proteins, function as androgen receptor coregulators.

Nuclear Receptor Signaling
Beliakoff, Jason J; Sun, Zijie Z
Publication Date: 2006

Variant appearance in text: p53: K386R
PubMed Link: 16862223
Variant Present in the following documents:
  • Main text
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Direct p53 transcriptional repression: in vivo analysis of CCAAT-containing G2/M promoters.

Molecular And Cellular Biology
Imbriano, Carol C; Gurtner, Aymone A; Cocchiarella, Fabienne F; Di Agostino, Silvia S; Basile, Valentina V; Gostissa, Monica M; Dobbelstein, Matthias M; Del Sal, Giannino G; Piaggio, Giulia G; Mantovani, Roberto R
Publication Date: 2005-05

Variant appearance in text: p53: K386R
PubMed Link: 15831478
Variant Present in the following documents:
  • Main text
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Negative modulation of androgen receptor transcriptional activity by Daxx.

Molecular And Cellular Biology
Lin, Ding-Yen DY; Fang, Hsin-I HI; Ma, Ai-Hong AH; Huang, Yen-Sung YS; Pu, Yeong-Shiau YS; Jenster, Guido G; Kung, Hsing-Jien HJ; Shih, Hsiu-Ming HM
Publication Date: 2004-12

Variant appearance in text: p53: K386R
PubMed Link: 15572661
Variant Present in the following documents:
  • Main text
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PIAS proteins modulate transcription factors by functioning as SUMO-1 ligases.

Molecular And Cellular Biology
Kotaja, Noora N; Karvonen, Ulla U; Jänne, Olli A OA; Palvimo, Jorma J JJ
Publication Date: 2002-07

Variant appearance in text: p53: K386R
PubMed Link: 12077349
Variant Present in the following documents:
  • Main text
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Members of the PIAS family act as SUMO ligases for c-Jun and p53 and repress p53 activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schmidt, Darja D; Müller, Stefan S
Publication Date: 2002-03-05

Variant appearance in text: p53: K386R
PubMed Link: 11867732
Variant Present in the following documents:
  • Main text
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PIASy, a nuclear matrix-associated SUMO E3 ligase, represses LEF1 activity by sequestration into nuclear bodies.

Genes & Development
Sachdev, S S; Bruhn, L L; Sieber, H H; Pichler, A A; Melchior, F F; Grosschedl, R R
Publication Date: 2001-12-01

Variant appearance in text: p53: K386R
PubMed Link: 11731474
Variant Present in the following documents:
  • Main text
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Covalent modification of the androgen receptor by small ubiquitin-like modifier 1 (SUMO-1).

Proceedings Of The National Academy Of Sciences Of The United States Of America
Poukka, H H; Karvonen, U U; Janne, O A OA; Palvimo, J J JJ
Publication Date: 2000-12-19

Variant appearance in text: p53: K386R
PubMed Link: 11121022
Variant Present in the following documents:
  • Main text
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Regulation of p53 activity in nuclear bodies by a specific PML isoform.

The Embo Journal
Fogal, V V; Gostissa, M M; Sandy, P P; Zacchi, P P; Sternsdorf, T T; Jensen, K K; Pandolfi, P P PP; Will, H H; Schneider, C C; Del Sal, G G
Publication Date: 2000-11-15

Variant appearance in text: p53: K386R
PubMed Link: 11080164
Variant Present in the following documents:
  • Main text
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Multiple C-terminal lysine residues target p53 for ubiquitin-proteasome-mediated degradation.

Molecular And Cellular Biology
Rodriguez, M S MS; Desterro, J M JM; Lain, S S; Lane, D P DP; Hay, R T RT
Publication Date: 2000-11

Variant appearance in text: p53: K386R
PubMed Link: 11046142
Variant Present in the following documents:
  • Main text
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