Publications:

---

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: TP53: Arg280His

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

Medicine

Otsuki, Yuki Y; Ueda, Koichi K; Nuri, Takashi T; Satoh, Chisei C; Maekawa, Ryuta R; Yoshiura, Koh-Ichiro KI

Publication Date: 2020-10-30

Variant appearance in text: p53: R280H

PubMed Link: 33126320

Variant Present in the following documents:

• Main text
• medi-99-e22816.pdf

View BVdb publication page

---

Quinacrine upregulates p21/p27 independent of p53 through autophagy-mediated downregulation of p62-Skp2 axis in ovarian cancer.

Scientific Reports

Jung, DeokBeom D; Khurana, Ashwani A; Roy, Debarshi D; Kalogera, Eleftheria E; Bakkum-Gamez, Jamie J; Chien, Jeremy J; Shridhar, Viji V

Publication Date: 2018-02-06

Variant appearance in text: p53: R280H

PubMed Link: 29410485

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20531.pdf

View BVdb publication page

---

Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: TP53: R280H

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

---

Cancer therapeutic approach based on conformational stabilization of mutant p53 protein by small peptides.

Oncotarget

Tal, Perry P; Eizenberger, Shay S; Cohen, Elad E; Goldfinger, Naomi N; Pietrokovski, Shmuel S; Oren, Moshe M; Rotter, Varda V

Publication Date: 2016-03-15

Variant appearance in text: p53: R280H

PubMed Link: 26943582

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mutant p53-R273H mediates cancer cell survival and anoikis resistance through AKT-dependent suppression of BCL2-modifying factor (BMF).

Cell Death & Disease

Tan, B S BS; Tiong, K H KH; Choo, H L HL; Chung, F Fei-Lei FF; Hii, L-W LW; Tan, S H SH; Yap, I K S IK; Pani, S S; Khor, N T W NT; Wong, S F SF; Rosli, R R; Cheong, S-K SK; Leong, C-O CO

Publication Date: 2015-07-16

Variant appearance in text: p53: R280H

PubMed Link: 26181206

Variant Present in the following documents:

• Main text
• cddis2015191a.pdf

View BVdb publication page

---

Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder.

Bmj Case Reports

Patel, Ankur A; Sharma, Deepak D; Yadav, Jaivinder J; Garg, Eva E

Publication Date: 2014-06-27

Variant appearance in text: p53: R280H

PubMed Link: 24973351

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Impedimetric detection of mutant p53 biomarker-driven metastatic breast cancers under hyposmotic pressure.

Plos One

Shi, Menglu M; Shtraizent, Nataly N; Polotskaia, Alla A; Bargonetti, Jill J; Matsui, Hiroshi H

Publication Date: 2014

Variant appearance in text: p53: R280H

PubMed Link: 24937470

Variant Present in the following documents:

• Main text
• pone.0099351.pdf

View BVdb publication page

---

S100A2 is a BRCA1/p63 coregulated tumour suppressor gene with roles in the regulation of mutant p53 stability.

Cell Death & Disease

Buckley, N E NE; D'Costa, Z Z; Kaminska, M M; Mullan, P B PB

Publication Date: 2014-02-20

Variant appearance in text: p53: R280H

PubMed Link: 24556685

Variant Present in the following documents:

• Main text
• cddis201431a.pdf

View BVdb publication page

---

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: TP53: R280H

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

---

Targeting the p53 Pathway in Ewing Sarcoma.

Sarcoma

Neilsen, Paul M PM; Pishas, Kathleen I KI; Callen, David F DF; Thomas, David M DM

Publication Date: 2011

Variant appearance in text: TP53: R280H

PubMed Link: 21197471

Variant Present in the following documents:

• Main text
• SRCM2011-746939.pdf

View BVdb publication page

---

p53 regulation of podosome formation and cellular invasion in vascular smooth muscle cells.

Cell Adhesion & Migration

Mak, Alan S AS

Publication Date: 2011

Variant appearance in text: p53: R280H

PubMed Link: 21164280

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

Bmc Cancer

Rosenberger, Albert A; Illig, Thomas T; Korb, Katrin K; Klopp, Norman N; Zietemann, Vera V; Wölke, Gabi G; Meese, Eckart E; Sybrecht, Gerhard G; Kronenberg, Florian F; Cebulla, Matthias M; Degen, Maria M; Drings, Peter P; Gröschel, Andreas A; Konietzko, Nikolaus N; Kreymborg, Karsten Grosse KG; Häussinger, Karl K; Höffken, Gerd G; Jilge, Bettina B; Ko, You-Dschun YD; Morr, Harald H; Schmidt, Christine C; Schmidt, E-Wilhelm EW; Täuscher, Dagmar D; Bickeböller, Heike H; Wichmann, H-Erich HE

Publication Date: 2008-02-25

Variant appearance in text: p53: Arg280His

PubMed Link: 18298806

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Dlx genes, p63, and ectodermal dysplasias.

Birth Defects Research. Part C, Embryo Today : Reviews

Morasso, Maria I MI; Radoja, Nadezda N

Publication Date: 2005-09

Variant appearance in text: p53: R280H

PubMed Link: 16187309

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Splitting p63.

American Journal Of Human Genetics

van Bokhoven, Hans H; Brunner, Han G HG

Publication Date: 2002-07

Variant appearance in text: p53: R280H

PubMed Link: 12037717

Variant Present in the following documents:

• Main text

View BVdb publication page

---

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

American Journal Of Human Genetics

van Bokhoven, H H; Hamel, B C BC; Bamshad, M M; Sangiorgi, E E; Gurrieri, F F; Duijf, P H PH; Vanmolkot, K R KR; van Beusekom, E E; van Beersum, S E SE; Celli, J J; Merkx, G F GF; Tenconi, R R; Fryns, J P JP; Verloes, A A; Newbury-Ecob, R A RA; Raas-Rotschild, A A; Majewski, F F; Beemer, F A FA; Janecke, A A; Chitayat, D D; Crisponi, G G; Kayserili, H H; Yates, J R JR; Neri, G G; Brunner, H G HG

Publication Date: 2001-09

Variant appearance in text: p53: R280H

PubMed Link: 11462173

Variant Present in the following documents:

• Main text

View BVdb publication page

---