Publications:

---

Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Scientific Reports

Sasaki, Keiju K; Takahashi, Shin S; Ouchi, Kota K; Otsuki, Yasufumi Y; Wakayama, Shonosuke S; Ishioka, Chikashi C

Publication Date: 2023-03-24

Variant appearance in text: p53: P12H

PubMed Link: 36964217

Variant Present in the following documents:

• 41598_2023_32092_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs1482497533

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

View BVdb publication page

---

Pirtobrutinib Targets BTK C481S in Ibrutinib-Resistant CLL but Second-Site BTK Mutations Lead to Resistance.

Blood Advances

Naeem, Aishath A; Utro, Filippo F; Wang, Qing Q; Cha, Justin J; Vihinen, Mauno M; Martindale, Stephen P SP; Zhou, Yinglu Y; Ren, Yue Y; Tyekucheva, Svitlana S; Kim, Annette S AS; Fernandes, Stacey M SM; Saksena, Gordon G; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Danysh, Brian P BP; Slowik, Kara K; Jacobs, Raquel A RA; Davids, Matthew S MS; Lederer, James A JA; Zain, Rula R; Smith, C I Edvard CIE; Leshchiner, Ignaty I; Parida, Laxmi L; Getz, Gad G; Brown, Jennifer R JR

Publication Date: 2022-10-26

Variant appearance in text: TP53: P12H

PubMed Link: 36287227

Variant Present in the following documents:

• BLOODA_ADV-2022-008447-mmc1.xlsx, sheet 2

View BVdb publication page

---

The Inhibitory Response to PI3K/AKT Pathway Inhibitors MK-2206 and Buparlisib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines.

International Journal Of Molecular Sciences

Ma, Yixuan Y; Sender, Sina S; Sekora, Anett A; Kong, Weibo W; Bauer, Peter P; Ameziane, Najim N; Al-Ali, Ruslan R; Krake, Susann S; Radefeldt, Mandy M; Weiss, Frank Ulrich FU; Lerch, Markus M MM; Parveen, Alisha A; Zechner, Dietmar D; Junghanss, Christian C; Murua Escobar, Hugo H

Publication Date: 2022-04-13

Variant appearance in text: TP53: 35C>A

PubMed Link: 35457111

Variant Present in the following documents:

• Main text
• ijms-23-04295.pdf

View BVdb publication page

---

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: 35C>A; Pro12His

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

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: rs1482497533

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

---

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: rs1482497533

PubMed Link: 33257846

Variant Present in the following documents:

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

View BVdb publication page

---

Short- and long-term impact of hyperoxia on the blood and retinal cells' transcriptome in a mouse model of oxygen-induced retinopathy.

Pediatric Research

Zasada, Magdalena M; Madetko-Talowska, Anna A; Revhaug, Cecilie C; Rognlien, Anne Gro W AGW; Baumbusch, Lars O LO; Książek, Teofila T; Szewczyk, Katarzyna K; Grabowska, Agnieszka A; Bik-Multanowski, Miroslaw M; Józef Pietrzyk, Jacek J; Kwinta, Przemko P; Saugstad, Ola Didrik OD

Publication Date: 2020-02

Variant appearance in text: p53: P12H

PubMed Link: 31578039

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 35C>A; Pro12His

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

---

Activation of CREBZF Increases Cell Apoptosis in Mouse Ovarian Granulosa Cells by Regulating the ERK1/2 and mTOR Signaling Pathways.

International Journal Of Molecular Sciences

Chen, Fenglei F; Wen, Xin X; Lin, Pengfei P; Chen, Huatao H; Wang, Aihua A; Jin, Yaping Y

Publication Date: 2018-11-08

Variant appearance in text: p53: P12h

PubMed Link: 30413092

Variant Present in the following documents:

• Main text
• ijms-19-03517.pdf

View BVdb publication page

---

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Plos Medicine

Hamblin, Angela A; Wordsworth, Sarah S; Fermont, Jilles M JM; Page, Suzanne S; Kaur, Kulvinder K; Camps, Carme C; Kaisaki, Pamela P; Gupta, Avinash A; Talbot, Denis D; Middleton, Mark M; Henderson, Shirley S; Cutts, Anthony A; Vavoulis, Dimitrios V DV; Housby, Nick N; Tomlinson, Ian I; Taylor, Jenny C JC; Schuh, Anna A

Publication Date: 2017-02

Variant appearance in text: TP53: 35C>A

PubMed Link: 28196074

Variant Present in the following documents:

• pmed.1002230.s004.xlsx, sheet 1
• pmed.1002230.s004.xlsx, sheet 2

View BVdb publication page

---

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: P12H

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

---

Differential strand separation at critical temperature: a minimally disruptive enrichment method for low-abundance unknown DNA mutations.

Nucleic Acids Research

Guha, Minakshi M; Castellanos-Rizaldos, Elena E; Liu, Pingfang P; Mamon, Harvey H; Makrigiorgos, G Mike GM

Publication Date: 2013-02-01

Variant appearance in text: TP53: 35C>A

PubMed Link: 23258702

Variant Present in the following documents:

• Main text
• gks1250.pdf
• supp_gks1250_nar-02718-met-k-2012-File007.pdf

View BVdb publication page

---