Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs33954691

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Prenatal stress modulates HPA axis homeostasis of offspring through dentate TERT independently of glucocorticoids receptor.

Molecular Psychiatry

Liu, Meng-Ying MY; Wei, Lu-Lu LL; Zhu, Xian-Hui XH; Ding, Hua-Chen HC; Liu, Xiang-Hu XH; Li, Huan H; Li, Yuan-Yuan YY; Han, Zhou Z; Li, Lian-Di LD; Du, Zi-Wei ZW; Zhou, Ya-Ping YP; Zhang, Jing J; Meng, Fan F; Tang, Yu-Lin YL; Liu, Xiao X; Wang, Chun C; Zhou, Qi-Gang QG

Publication Date: 2022-12-08

Variant appearance in text: rs33954691

PubMed Link: 36481932

Variant Present in the following documents:

• Main text
• 41380_2022_Article_1898.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: TERT: H1013H

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: TERT: H1013H

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.

Gut

Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F

Publication Date: 2022-07-04

Variant appearance in text: rs33954691

PubMed Link: 35788059

Variant Present in the following documents:

• gutjnl-2022-327196supp001.pdf

View BVdb publication page

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Germline mutations among Polish patients with acute myeloid leukemia.

Hereditary Cancer In Clinical Practice

Bąk, Aneta A; Skonieczka, Katarzyna K; Jaśkowiec, Anna A; Junkiert-Czarnecka, Anna A; Heise, Marta M; Pilarska-Deltow, Maria M; Potoczek, Stanisław S; Czyżewska, Maria M; Haus, Olga O

Publication Date: 2021-10-12

Variant appearance in text: TERT: 3039C>T; His1013=; rs33954691

PubMed Link: 34641967

Variant Present in the following documents:

• Main text
• 13053_2021_Article_200.pdf

View BVdb publication page

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Mechanism of Human Telomerase Reverse Transcriptase (hTERT) Regulation and Clinical Impacts in Leukemia.

Genes

Yik, Mot Yee MY; Azlan, Adam A; Rajasegaran, Yaashini Y; Rosli, Aliaa A; Yusoff, Narazah Mohd NM; Moses, Emmanuel Jairaj EJ

Publication Date: 2021-07-30

Variant appearance in text: rs33954691

PubMed Link: 34440361

Variant Present in the following documents:

• Main text
• genes-12-01188.pdf

View BVdb publication page

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First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: TERT: H1013H; rs33954691

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic test for the personalization of sport training.

Acta Bio-Medica : Atenei Parmensis

Naureen, Zakira Z; Perrone, Marco M; Paolacci, Stefano S; Maltese, Paolo Enrico PE; Dhuli, Kristjana K; Kurti, Danjela D; Dautaj, Astrit A; Miotto, Roberta R; Casadei, Arianna A; Fioretti, Bernard B; Beccari, Tommaso T; Romeo, Francesco F; Bertelli, Matteo M

Publication Date: 2020-11-09

Variant appearance in text: rs33954691

PubMed Link: 33170162

Variant Present in the following documents:

• Main text
• ACTA-91-12.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: TERT: 3039C>T; H1013H; rs33954691

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: TERT: 3039C>T; His1013=; rs33954691

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: TERT: H1013H; rs33954691

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Variability within the human TERT gene, telomere length and predisposition to chronic lymphocytic leukemia.

Oncotargets And Therapy

Wysoczanska, Barbara B; Dratwa, Marta M; Gebura, Katarzyna K; Mizgala, Jakub J; Mazur, Grzegorz G; Wrobel, Tomasz T; Bogunia-Kubik, Katarzyna K

Publication Date: 2019

Variant appearance in text: rs33954691

PubMed Link: 31239704

Variant Present in the following documents:

• Main text
• ott-12-4309.pdf

View BVdb publication page

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Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Ebiomedicine

Visioli, Alberto A; Giani, Fabrizio F; Trivieri, Nadia N; Pracella, Riccardo R; Miccinilli, Elide E; Cariglia, Maria Grazia MG; Palumbo, Orazio O; Arleo, Andrea A; Dezi, Fabio F; Copetti, Massimiliano M; Cajola, Laura L; Restelli, Silvia S; Papa, Valerio V; Sciuto, Antonio A; Latiano, Tiziana Pia TP; Carella, Massimo M; Amadori, Dino D; Gallerani, Giulia G; Ricci, Riccardo R; Alfieri, Sergio S; Pesole, Graziano G; Vescovi, Angelo L AL; Binda, Elena E

Publication Date: 2019-06

Variant appearance in text: TERT: 3039C>T; H1013H

PubMed Link: 31056474

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc1.xls, sheet 1

View BVdb publication page

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Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine

Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V

Publication Date: 2019-03

Variant appearance in text: TERT: H1013H; rs33954691

PubMed Link: 30737087

Variant Present in the following documents:

• mmc1.xlsx, sheet 9

View BVdb publication page

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Analysis of the Association Between TERC and TERT Genetic Variation and Leukocyte Telomere Length and Human Lifespan-A Follow-Up Study.

Genes

Scarabino, Daniela D; Peconi, Martina M; Pelliccia, Franca F; Corbo, Rosa Maria RM

Publication Date: 2019-01-25

Variant appearance in text: rs33954691

PubMed Link: 30691026

Variant Present in the following documents:

• Main text
• genes-10-00082.pdf

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs33954691

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: TERT: 3039C>T; H1013H; rs33954691

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4

View BVdb publication page

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Bicodon bias can determine the role of synonymous SNPs in human diseases.

Bmc Genomics

McCarthy, Christina C; Carrea, Alejandra A; Diambra, Luis L

Publication Date: 2017-03-13

Variant appearance in text: rs33954691

PubMed Link: 28288557

Variant Present in the following documents:

• Main text
• 12864_2017_Article_3609.pdf
• 12864_2017_3609_MOESM2_ESM.pdf

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: TERT: 3039C>T; His1013=; rs33954691

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1
• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: TERT: 3039C>T; H1013H; rs33954691

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TERT: H1013H; rs33954691

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genome maintenance and human longevity.

Current Opinion In Genetics & Development

Cho, Miook M; Suh, Yousin Y

Publication Date: 2014-06

Variant appearance in text: TERT: H1013H; rs33954691

PubMed Link: 25151201

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.

Plos One

Liu, Yun Y; Cao, Lan L; Li, Zhiqiang Z; Zhou, Daizhan D; Liu, Wanqing W; Shen, Qin Q; Wu, Yanting Y; Zhang, Dan D; Hu, Xun X; Wang, Ting T; Ye, Junyi J; Weng, Xiaoling X; Zhang, Hong H; Zhang, Di D; Zhang, Zhou Z; Liu, Fatao F; He, Lin L; Shi, Yongyong Y

Publication Date: 2014

Variant appearance in text: rs33954691

PubMed Link: 24465473

Variant Present in the following documents:

• Main text
• pone.0085043.pdf

View BVdb publication page

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Exploring the role of genetic variability and lifestyle in oxidative stress response for healthy aging and longevity.

International Journal Of Molecular Sciences

Dato, Serena S; Crocco, Paolina P; D'Aquila, Patrizia P; de Rango, Francesco F; Bellizzi, Dina D; Rose, Giuseppina G; Passarino, Giuseppe G

Publication Date: 2013-08-08

Variant appearance in text: rs33954691

PubMed Link: 23965963

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.

Respiratory Research

Fernandez, Bridget A BA; Fox, George G; Bhatia, Rick R; Sala, Eric E; Noble, Barbara B; Denic, Nash N; Fernandez, Dzintra D; Duguid, Nigel N; Dohey, Amanda A; Kamel, Fady F; Edwards, Laura L; Mahoney, Krista K; Stuckless, Susan S; Parfrey, Patrick S PS; Woods, Michael O MO

Publication Date: 2012-08-01

Variant appearance in text: TERT: 3039C>T; rs33954691

PubMed Link: 22853774

Variant Present in the following documents:

View BVdb publication page

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Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

Zee, Robert Y L RY; Ridker, Paul M PM; Chasman, Daniel I DI

Publication Date: 2011-01-14

Variant appearance in text: rs33954691

PubMed Link: 20937264

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolution in health and medicine Sackler colloquium: Genetic variation in human telomerase is associated with telomere length in Ashkenazi centenarians.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Atzmon, Gil G; Cho, Miook M; Cawthon, Richard M RM; Budagov, Temuri T; Katz, Micol M; Yang, Xiaoman X; Siegel, Glenn G; Bergman, Aviv A; Huffman, Derek M DM; Schechter, Clyde B CB; Wright, Woodring E WE; Shay, Jerry W JW; Barzilai, Nir N; Govindaraju, Diddahally R DR; Suh, Yousin Y

Publication Date: 2010-01-26

Variant appearance in text: TERT: H1013H

PubMed Link: 19915151

Variant Present in the following documents:

• Main text

View BVdb publication page

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