TERT c.2135A>C ;(p.D712A)

Variant ID: 5-1278907-T-G

NM_198253.2(TERT):c.2135A>C;(p.D712A)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


SMG6 regulates DNA damage and cell survival in Hippo pathway kinase LATS2-inactivated malignant mesothelioma.

Cell Death Discovery
Suzuki, Koya K; Tange, Masaki M; Yamagishi, Ryota R; Hanada, Hiroyuki H; Mukai, Satomi S; Sato, Tatsuhiro T; Tanaka, Takeshi T; Akashi, Tomohiro T; Kadomatsu, Kenji K; Maeda, Tohru T; Miida, Takashi T; Takeuchi, Ichiro I; Murakami, Hiroshi H; Sekido, Yoshitaka Y; Murakami-Tonami, Yuko Y
Publication Date: 2022-11-05

Variant appearance in text: TERT: D712A
PubMed Link: 36335095
Variant Present in the following documents:
  • Main text
  • 41420_2022_Article_1232.pdf
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A mechanism for the extension and unfolding of parallel telomeric G-quadruplexes by human telomerase at single-molecule resolution.

Elife
Paudel, Bishnu P BP; Moye, Aaron Lavel AL; Abou Assi, Hala H; El-Khoury, Roberto R; Cohen, Scott B SB; Holien, Jessica K JK; Birrento, Monica L ML; Samosorn, Siritron S; Intharapichai, Kamthorn K; Tomlinson, Christopher G CG; Teulade-Fichou, Marie-Paule MP; González, Carlos C; Beck, Jennifer L JL; Damha, Masad J MJ; van Oijen, Antoine M AM; Bryan, Tracy M TM
Publication Date: 2020-07-29

Variant appearance in text: TERT: D712A
PubMed Link: 32723475
Variant Present in the following documents:
  • Main text
  • elife-56428.pdf
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Telomerase Biogenesis and Activities from the Perspective of Its Direct Interacting Partners.

Cancers
Nguyen, Kathryn T T T KTTT; Wong, Judy M Y JMY
Publication Date: 2020-06-24

Variant appearance in text: TERT: D712A
PubMed Link: 32599885
Variant Present in the following documents:
  • Main text
  • cancers-12-01679.pdf
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Telomerase promotes formation of a telomere protective complex in cancer cells.

Science Advances
Perera, Omesha N ON; Sobinoff, Alexander P AP; Teber, Erdahl T ET; Harman, Ashley A; Maritz, Michelle F MF; Yang, Sile F SF; Pickett, Hilda A HA; Cesare, Anthony J AJ; Arthur, Jonathan W JW; MacKenzie, Karen L KL; Bryan, Tracy M TM
Publication Date: 2019-10

Variant appearance in text: TERT: D712A
PubMed Link: 31616780
Variant Present in the following documents:
  • Main text
  • aav4409.pdf
  • aav4409_SM.pdf
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Enhanced cardiac repair by telomerase reverse transcriptase over-expression in human cardiac mesenchymal stromal cells.

Scientific Reports
Le, Thi Yen Loan TYL; Pickett, Hilda A HA; Yang, Andrian A; Ho, Joshua W K JWK; Thavapalachandran, Sujitha S; Igoor, Sindhu S; Yang, Sile F SF; Farraha, Melad M; Voges, Holly K HK; Hudson, James E JE; Dos Remedios, Cristobal G CG; Bryan, Tracy M TM; Kizana, Eddy E; Chong, James J H JJH
Publication Date: 2019-07-22

Variant appearance in text: TERT: D712A
PubMed Link: 31332256
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural, functional, and stability change predictions in human telomerase upon specific point mutations.

Scientific Reports
Kalathiya, U U; Padariya, M M; Baginski, M M
Publication Date: 2019-06-18

Variant appearance in text: TERT: D712A
PubMed Link: 31213647
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transient introduction of human telomerase mRNA improves hallmarks of progeria cells.

Aging Cell
Li, Yanhui Y; Zhou, Gang G; Bruno, Ivone G IG; Zhang, Ning N; Sho, Sei S; Tedone, Enzo E; Lai, Tsung-Po TP; Cooke, John P JP; Shay, Jerry W JW
Publication Date: 2019-08

Variant appearance in text: TERT: D712A
PubMed Link: 31152494
Variant Present in the following documents:
  • Main text
  • ACEL-18-e12979.pdf
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Telomerase reverse transcriptase promotes cancer cell proliferation by augmenting tRNA expression.

The Journal Of Clinical Investigation
Khattar, Ekta E; Kumar, Pavanish P; Liu, Chia Yi CY; Akıncılar, Semih Can SC; Raju, Anandhkumar A; Lakshmanan, Manikandan M; Maury, Julien Jean Pierre JJ; Qiang, Yu Y; Li, Shang S; Tan, Ern Yu EY; Hui, Kam M KM; Shi, Ming M; Loh, Yuin Han YH; Tergaonkar, Vinay V
Publication Date: 2016-10-03

Variant appearance in text: TERT: D712A
PubMed Link: 27643433
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enhancement of the in vivo persistence and antitumor efficacy of CD19 chimeric antigen receptor T cells through the delivery of modified TERT mRNA.

Cell Discovery
Bai, Yun Y; Kan, Shifeng S; Zhou, Shixin S; Wang, Yuting Y; Xu, Jun J; Cooke, John P JP; Wen, Jinhua J; Deng, Hongkui H
Publication Date: 2015

Variant appearance in text: TERT: D712A
PubMed Link: 27462436
Variant Present in the following documents:
  • Main text
  • celldisc201540.pdf
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The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.

Plos Genetics
Frank, Amanda K AK; Tran, Duy C DC; Qu, Roy W RW; Stohr, Bradley A BA; Segal, David J DJ; Xu, Lifeng L
Publication Date: 2015-07

Variant appearance in text: TERT: D712A
PubMed Link: 26230315
Variant Present in the following documents:
  • Main text
  • pgen.1005410.pdf
View BVdb publication page



Telomerase activity-independent function of TERT allows glioma cells to attain cancer stem cell characteristics by inducing EGFR expression.

Molecules And Cells
Beck, Samuel S; Jin, Xun X; Sohn, Young-Woo YW; Kim, Jun-Kyum JK; Kim, Sung-Hak SH; Yin, Jinlong J; Pian, Xumin X; Kim, Sung-Chan SC; Nam, Do-Hyun DH; Choi, Yun-Jaie YJ; Kim, Hyunggee H
Publication Date: 2011-01

Variant appearance in text: TERT: D712A
PubMed Link: 21193962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human telomerase catalytic subunit (hTERT) suppresses p53-mediated anti-apoptotic response via induction of basic fibroblast growth factor.

Experimental & Molecular Medicine
Jin, Xun X; Beck, Samuel S; Sohn, Young-Woo YW; Kim, Jun-Kyum JK; Kim, Sung-Hak SH; Yin, Jinlong J; Pian, Xumin X; Kim, Sung-Chan SC; Choi, Yun-Jaie YJ; Kim, Hyunggee H
Publication Date: 2010-08-31

Variant appearance in text: TERT: D712A
PubMed Link: 20628269
Variant Present in the following documents:
  • Main text
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Genetic hypervariability in two distinct deuterostome telomerase reverse transcriptase genes and their early embryonic functions.

Molecular Biology Of The Cell
Wells, Trystan B TB; Zhang, Guanglei G; Harley, Zenon Z; Vaziri, Homayoun H
Publication Date: 2009-01

Variant appearance in text: TERT: D712A
PubMed Link: 18946080
Variant Present in the following documents:
  • Main text
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TERT promotes epithelial proliferation through transcriptional control of a Myc- and Wnt-related developmental program.

Plos Genetics
Choi, Jinkuk J; Southworth, Lucinda K LK; Sarin, Kavita Y KY; Venteicher, Andrew S AS; Ma, Wenxiu W; Chang, Woody W; Cheung, Peggie P; Jun, Sohee S; Artandi, Maja K MK; Shah, Naman N; Kim, Stuart K SK; Artandi, Steven E SE
Publication Date: 2008-01

Variant appearance in text: TERT: D712A
PubMed Link: 18208333
Variant Present in the following documents:
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p53-dependent integration of telomere and growth factor deprivation signals.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Beliveau, Alain A; Bassett, Ekaterina E; Lo, Alvin T AT; Garbe, James J; Rubio, Miguel A MA; Bissell, Mina J MJ; Campisi, Judith J; Yaswen, Paul P
Publication Date: 2007-03-13

Variant appearance in text: TERT: D712A
PubMed Link: 17360541
Variant Present in the following documents:
  • Main text
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Characterization of physical and functional anchor site interactions in human telomerase.

Molecular And Cellular Biology
Wyatt, Haley D M HD; Lobb, Deirdre A DA; Beattie, Tara L TL
Publication Date: 2007-04

Variant appearance in text: TERT: D712A
PubMed Link: 17296728
Variant Present in the following documents:
  • Main text
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Functional multimerization of the human telomerase reverse transcriptase.

Molecular And Cellular Biology
Beattie, T L TL; Zhou, W W; Robinson, M O MO; Harrington, L L
Publication Date: 2001-09

Variant appearance in text: TERT: D712A
PubMed Link: 11509658
Variant Present in the following documents:
  • Main text
View BVdb publication page