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: 430G>A; Val144Met

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: 430G>A

PubMed Link: 35795226

Variant Present in the following documents:

• Main text
• VJGB-26-2237.pdf

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Fibroblast Senescence in Idiopathic Pulmonary Fibrosis.

Frontiers In Cell And Developmental Biology

Lin, Yifan Y; Xu, Zhihao Z

Publication Date: 2020

Variant appearance in text: TRT: V144M

PubMed Link: 33324646

Variant Present in the following documents:

• Main text
• fcell-08-593283.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: Val144Met

PubMed Link: 31426295

Variant Present in the following documents:

• Main text
• jcm-08-01232.pdf

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Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations.

The European Respiratory Journal

Newton, Chad A CA; Batra, Kiran K; Torrealba, Jose J; Meyer, Keith K; Raghu, Ganesh G; Garcia, Christine Kim CK

Publication Date: 2017-05

Variant appearance in text: TERT: 430G>A; Val144Met

PubMed Link: 28495683

Variant Present in the following documents:

• Main text

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Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.

The Journal Of Clinical Investigation

Maryoung, Lindley L; Yue, Yangbo Y; Young, Ashley A; Newton, Chad A CA; Barba, Cindy C; van Oers, Nicolai S C NS; Wang, Richard C RC; Garcia, Christine Kim CK

Publication Date: 2017-03-01

Variant appearance in text: TERT: Val144Met

PubMed Link: 28192371

Variant Present in the following documents:

• Main text

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Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive.

The European Respiratory Journal

Newton, Chad A CA; Batra, Kiran K; Torrealba, Jose J; Kozlitina, Julia J; Glazer, Craig S CS; Aravena, Carlos C; Meyer, Keith K; Raghu, Ganesh G; Collard, Harold R HR; Garcia, Christine Kim CK

Publication Date: 2016-12

Variant appearance in text: TERT: Val144Met

PubMed Link: 27540018

Variant Present in the following documents:

• Main text

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Human telomerase: biogenesis, trafficking, recruitment, and activation.

Genes & Development

Schmidt, Jens C JC; Cech, Thomas R TR

Publication Date: 2015-06-01

Variant appearance in text: TERT: V144M

PubMed Link: 26063571

Variant Present in the following documents:

• Main text
• 1095.pdf

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Contributions of the TEL-patch amino acid cluster on TPP1 to telomeric DNA synthesis by human telomerase.

Journal Of Molecular Biology

Dalby, Andrew B AB; Hofr, Ctirad C; Cech, Thomas R TR

Publication Date: 2015-03-27

Variant appearance in text: TERT: V144M

PubMed Link: 25623306

Variant Present in the following documents:

• Main text

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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: V144M

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: V144M

PubMed Link: 25192356

Variant Present in the following documents:

• Main text
• pone.0106744.pdf

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TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends.

Cell

Zhong, Franklin L FL; Batista, Luis F Z LF; Freund, Adam A; Pech, Matthew F MF; Venteicher, Andrew S AS; Artandi, Steven E SE

Publication Date: 2012-08-03

Variant appearance in text: TERT: V144M

PubMed Link: 22863003

Variant Present in the following documents:

• Main text

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Idiopathic pulmonary fibrosis: update on genetic discoveries.

Proceedings Of The American Thoracic Society

Garcia, Christine Kim CK

Publication Date: 2011-05

Variant appearance in text: TERT: V144M

PubMed Link: 21543794

Variant Present in the following documents:

• Main text

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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: V144M

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: V144M

PubMed Link: 20502709

Variant Present in the following documents:

• Main text
• pone.0010680.pdf

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