Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TERT: 3268G>A; Val1090Met

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.

Frontiers In Oncology

Fiesco-Roa, Moisés Ó MÓ; García-de Teresa, Benilde B; Leal-Anaya, Paula P; van 't Hek, Renée R; Wegman-Ostrosky, Talia T; Frías, Sara S; Rodríguez, Alfredo A

Publication Date: 2022

Variant appearance in text: TERT: V1090M

PubMed Link: 36091172

Variant Present in the following documents:

• Main text
• fonc-12-949435.pdf

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: TERT: V1090M; rs121918664

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 6
• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

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Maternal human telomerase reverse transcriptase variants are associated with preterm labor and preterm premature rupture of membranes.

Plos One

Marrs, Caroline C; Chesmore, Kevin K; Menon, Ramkumar R; Williams, Scott S

Publication Date: 2018

Variant appearance in text: rs121918664

PubMed Link: 29771920

Variant Present in the following documents:

• Main text
• pone.0195963.pdf

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Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma.

Plos One

Donaires, Flávia S FS; Scatena, Natália F NF; Alves-Paiva, Raquel M RM; Podlevsky, Joshua D JD; Logeswaran, Dhenugen D; Santana, Barbara A BA; Teixeira, Andreza C AC; Chen, Julian J-L JJ; Calado, Rodrigo T RT; Martinelli, Ana L C ALC

Publication Date: 2017

Variant appearance in text: TERT: V1090M

PubMed Link: 28813500

Variant Present in the following documents:

• Main text
• pone.0183287.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TERT: 3268G>A; Val1090Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Structural Analysis Reveals the Deleterious Effects of Telomerase Mutations in Bone Marrow Failure Syndromes.

The Journal Of Biological Chemistry

Hoffman, Hunter H; Rice, Cory C; Skordalakes, Emmanuel E

Publication Date: 2017-03-17

Variant appearance in text: TERT: V1090M

PubMed Link: 28154186

Variant Present in the following documents:

• Main text

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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: Val1090Met

PubMed Link: 26851889

Variant Present in the following documents:

• Main text
• aging-08-260.pdf

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Structural Basis of Telomerase Inhibition by the Highly Specific BIBR1532.

Structure (London, England : 1993)

Bryan, Christopher C; Rice, Cory C; Hoffman, Hunter H; Harkisheimer, Michael M; Sweeney, Melanie M; Skordalakes, Emmanuel E

Publication Date: 2015-10-06

Variant appearance in text: TERT: V1090M

PubMed Link: 26365799

Variant Present in the following documents:

• Main text

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Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Nucleic Acids Research

Zaug, Arthur J AJ; Crary, Sharon M SM; Jesse Fioravanti, Matthew M; Campbell, Kristina K; Cech, Thomas R TR

Publication Date: 2013-10

Variant appearance in text: TERT: V1090M

PubMed Link: 23901009

Variant Present in the following documents:

• Main text
• supp_gkt653_nar-01604-r-2013-File007.pdf
• gkt653.pdf

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Medical genetics and epigenetics of telomerase.

Journal Of Cellular And Molecular Medicine

Koziel, Jillian E JE; Fox, Melanie J MJ; Steding, Catherine E CE; Sprouse, Alyssa A AA; Herbert, Brittney-Shea BS

Publication Date: 2011-03

Variant appearance in text: TERT: V1090M

PubMed Link: 21323862

Variant Present in the following documents:

• Main text
• jcmm0015-0457.pdf

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Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.

European Journal Of Clinical Investigation

Calado, R T RT; Regal, J A JA; Kajigaya, S S; Young, N S NS

Publication Date: 2009-11

Variant appearance in text: TERT: V1090M

PubMed Link: 19674077

Variant Present in the following documents:

• Main text

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Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells.

Blood

Calado, Rodrigo T RT; Yewdell, William T WT; Wilkerson, Keisha L KL; Regal, Joshua A JA; Kajigaya, Sachiko S; Stratakis, Constantine A CA; Young, Neal S NS

Publication Date: 2009-09-10

Variant appearance in text: TERT: Val1090Met

PubMed Link: 19561322

Variant Present in the following documents:

• Main text

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