Publications:

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Differential mechanisms of tolerance to extreme environmental conditions in tardigrades.

Scientific Reports

Carrero, Dido D; Pérez-Silva, José G JG; Quesada, Víctor V; López-Otín, Carlos C

Publication Date: 2019-10-17

Variant appearance in text: TERT: V867M

PubMed Link: 31624306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51471.pdf

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Diagnostic utility of telomere length testing in a hospital-based setting.

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

Alder, Jonathan K JK; Hanumanthu, Vidya Sagar VS; Strong, Margaret A MA; DeZern, Amy E AE; Stanley, Susan E SE; Takemoto, Clifford M CM; Danilova, Ludmila L; Applegate, Carolyn D CD; Bolton, Stephen G SG; Mohr, David W DW; Brodsky, Robert A RA; Casella, James F JF; Greider, Carol W CW; Jackson, J Brooks JB; Armanios, Mary M

Publication Date: 2018-03-06

Variant appearance in text: TERT: Val867Met

PubMed Link: 29463756

Variant Present in the following documents:

• pnas.201720427SI.pdf

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: TERT: 2599G>A; Val867Met

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-4.xlsx, sheet 1

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Genomes of Strongylocentrotus franciscanus and Lytechinus variegatus: are there any genomic explanations for the two order of magnitude difference in the lifespan of sea urchins?

Aging

Sergiev, Petr V PV; Artemov, Artem A AA; Prokhortchouk, Egor B EB; Dontsova, Olga A OA; Berezkin, Grigory V GV

Publication Date: 2016-02

Variant appearance in text: TERT: Val867Met

PubMed Link: 26851889

Variant Present in the following documents:

• Main text

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Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33.

F1000Research

Mirabello, Lisa L; Chung, Charles C CC; Yeager, Meredith M; Savage, Sharon A SA

Publication Date: 2014

Variant appearance in text: rs201159197

PubMed Link: 26664699

Variant Present in the following documents:

• f1000research-3-5532.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TERT: V867M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Targeting Human Telomerase Reverse Transcriptase by a Simple siRNA Expression Cassette in HepG2 Cells.

Hepatitis Monthly

Xu, Hui H; Gong, Xia X; Zhang, Hui Hui HH; Zhang, Qin Q; Zhao, Dandan D; Peng, Jian Xiong JX

Publication Date: 2015-03

Variant appearance in text: TERT: V867M

PubMed Link: 25861317

Variant Present in the following documents:

• hepatmon-15-03-24343.pdf

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A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.

Blood

Gramatges, Maria M MM; Qi, Xiaodong X; Sasa, Ghadir S GS; Chen, Julian J-L JJ; Bertuch, Alison A AA

Publication Date: 2013-05-02

Variant appearance in text: TERT: V867M

PubMed Link: 23538340

Variant Present in the following documents:

• Main text

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A translocation-defective telomerase with low levels of activity and processivity stabilizes short telomeres and confers immortalization.

Molecular Biology Of The Cell

D'Souza, Yasmin Y; Chu, Tsz Wai TW; Autexier, Chantal C

Publication Date: 2013-05

Variant appearance in text: TERT: V867M

PubMed Link: 23447707

Variant Present in the following documents:

• Main text
• 1469.pdf

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Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis.

Plos Genetics

Alder, Jonathan K JK; Cogan, Joy D JD; Brown, Andrew F AF; Anderson, Collin J CJ; Lawson, William E WE; Lansdorp, Peter M PM; Phillips, John A JA; Loyd, James E JE; Chen, Julian J-L JJ; Armanios, Mary M

Publication Date: 2011-03

Variant appearance in text:

PubMed Link: 21483807

Variant Present in the following documents:

• Main text
• pgen.1001352.pdf

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Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Plos One

Diaz de Leon, Alberto A; Cronkhite, Jennifer T JT; Katzenstein, Anna-Luise A AL; Godwin, J David JD; Raghu, Ganesh G; Glazer, Craig S CS; Rosenblatt, Randall L RL; Girod, Carlos E CE; Garrity, Edward R ER; Xing, Chao C; Garcia, Christine Kim CK

Publication Date: 2010-05-19

Variant appearance in text: TERT: V867M

PubMed Link: 20502709

Variant Present in the following documents:

• Main text
• pone.0010680.pdf
• pone.0010680.s003.pdf

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