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: 97C>T; Pro33Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Molecular genetics of idiopathic pulmonary fibrosis.

Vavilovskii Zhurnal Genetiki I Selektsii

Mustafin, R N RN

Publication Date: 2022-05

Variant appearance in text: TERT: 97C>T

PubMed Link: 35795226

Variant Present in the following documents:

• Main text
• VJGB-26-2237.pdf

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Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis.

Journal Of Clinical Medicine

Bilgili, Hasancan H; Białas, Adam J AJ; Górski, Paweł P; Piotrowski, Wojciech J WJ

Publication Date: 2019-08-16

Variant appearance in text: TERT: Pro33Ser

PubMed Link: 31426295

Variant Present in the following documents:

• Main text
• jcm-08-01232.pdf

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Identification of human TERT elements necessary for telomerase recruitment to telomeres.

Elife

Schmidt, Jens C JC; Dalby, Andrew B AB; Cech, Thomas R TR

Publication Date: 2014-10-01

Variant appearance in text: TERT: P33S

PubMed Link: 25271372

Variant Present in the following documents:

• Main text
• elife03563.pdf

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Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.

Plos One

Kumar, Akash A; Dougherty, Max M; Findlay, Gregory M GM; Geisheker, Madeleine M; Klein, Jason J; Lazar, John J; Machkovech, Heather H; Resnick, Jesse J; Resnick, Rebecca R; Salter, Alexander I AI; Talebi-Liasi, Faezeh F; Arakawa, Christopher C; Baudin, Jacob J; Bogaard, Andrew A; Salesky, Rebecca R; Zhou, Qian Q; Smith, Kelly K; Clark, John I JI; Shendure, Jay J; Horwitz, Marshall S MS

Publication Date: 2014

Variant appearance in text: TERT: P33S

PubMed Link: 25192356

Variant Present in the following documents:

• Main text
• pone.0106744.pdf

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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: P33S

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: P33S

PubMed Link: 21323862

Variant Present in the following documents:

• Main text
• jcmm0015-0457.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: P33S

PubMed Link: 20502709

Variant Present in the following documents:

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

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Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.

The Journal Of Biological Chemistry

Robart, Aaron R AR; Collins, Kathleen K

Publication Date: 2010-02-12

Variant appearance in text: TERT: P33S

PubMed Link: 20022961

Variant Present in the following documents:

• Main text

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Adult-onset pulmonary fibrosis caused by mutations in telomerase.

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

Tsakiri, Kalliopi D KD; Cronkhite, Jennifer T JT; Kuan, Phillip J PJ; Xing, Chao C; Raghu, Ganesh G; Weissler, Jonathan C JC; Rosenblatt, Randall L RL; Shay, Jerry W JW; Garcia, Christine Kim CK

Publication Date: 2007-05-01

Variant appearance in text: TERT: 97C>T; P33S

PubMed Link: 17460043

Variant Present in the following documents:

• Main text

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