PMC Links for Gene (Select 51750) - PMC

Laura Bergantini, Margherita Baldassarri, Miriana d’Alessandro, Giulia Brunelli, Gaia Fabbri, Kristina Zguro, Andrea Degl’Innocenti, GEN-COVID Multicenter study, Chiara Fallerini, Elena Bargagli, Alessandra Renieri

Respir Res. 2023; 24: 158. Published online 2023 Jun 16. doi: 10.1186/s12931-023-02458-7

PMCID:: PMC10276396

Abstract Article PDF–1.2M

Select item 98756224.

Regulator of telomere elongation helicase 1 gene and its association with malignancy

Mohammad Arian Hassani, Jamshid Murid, Jinsong Yan

Cancer Rep (Hoboken) 2023 Jan; 6(1): e1735. Published online 2022 Oct 17. doi: 10.1002/cnr2.1735

PMCID:: PMC9875622

Abstract Article PDF–1.7M

Select item 98099845.

A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation

Fernanda Gutierrez‑Rodrigues, Nohad Masri, Eliane Chouery, Carrie Diamond, Nadine Jalkh, Alana Vicente, Sachiko Kajigaya, Fayez Abillama, Noha Bejjani, Wassim Serhal, Rodrigo T. Calado, Neal S. Young, Hussein Farhat, Marie Louise Coussa

Hum Genet. Author manuscript; available in PMC 2023 Jan 3.

Published in final edited form as: Hum Genet. 2019 Dec; 138(11-12): 1323–1330. Published online 2019 Nov 1. doi: 10.1007/s00439-019-02076-8

PMCID:: PMC9809984

Abstract Article PDF–956K

Select item 96312716.

A New Pathogenic Variant of the RTEL1 Gene and Dyskeratosis Congenita: A Dermatological View

Sanaz AMIN GULDMANN, Anna BYRJALSEN, Saher SHAKER, Jesper ELBERLING

Acta Derm Venereol. 2022; 102: 919. Published online 2022 May 10. doi: 10.2340/actadv.v102.919

PMCID:: PMC9631271

Article PDF–556K

Select item 81401577.

RTEL1 influences the abundance and localization of TERRA RNA

Fiorella Ghisays, Aitor Garzia, Hexiao Wang, Claudia Canasto-Chibuque, Marcel Hohl, Sharon A. Savage, Thomas Tuschl, John H. J. Petrini

Nat Commun. 2021; 12: 3016. Published online 2021 May 21. doi: 10.1038/s41467-021-23299-2

PMCID:: PMC8140157

Abstract Article PDF–1.4M

Select item 73671698.

Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase

Aya Awad, Galina Glousker, Noa Lamm, Shadi Tawil, Noa Hourvitz, Riham Smoom, Patrick Revy, Yehuda Tzfati

Nucleic Acids Res. 2020 Jul 27; 48(13): 7239–7251. Published online 2020 Jun 15. doi: 10.1093/nar/gkaa503

PMCID:: PMC7367169

Abstract Article PDF–5.0M

Select item 66437359.

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

Shirleny R. Cardoso, Alicia C.M. Ellison, Amanda J. Walne, David Cassiman, Manoj Raghavan, Bhuvan Kishore, Philip Ancliff, Carmen Rodríguez-Vigil, Bieke Dobbels, Ana Rio-Machin, Ahad F.H. Al Seraihi, Nikolas Pontikos, Hemanth Tummala, Tom Vulliamy, Inderjeet Dokal

Haematologica. 2017 Aug; 102(8): e293–e296. doi: 10.3324/haematol.2017.167056

PMCID:: PMC6643735

Article

Select item 596108010.

Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension

Rosa M Porreca, Galina Glousker, Aya Awad, Maria I Matilla Fernandez, Anne Gibaud, Christian Naucke, Scott B Cohen, Tracy M Bryan, Yehuda Tzfati, Irena Draskovic, Arturo Londoño-Vallejo

Nucleic Acids Res. 2018 May 18; 46(9): 4533–4545. Published online 2018 Mar 7. doi: 10.1093/nar/gky173

PMCID:: PMC5961080

Abstract Article PDF–9.8M

Select item 576162311.

Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms

Judith C. W. Marsh, Fernanda Gutierrez-Rodrigues, James Cooper, Jie Jiang, Shreyans Gandhi, Sachiko Kajigaya, Xingmin Feng, Maria del Pilar F. Ibanez, Flávia S. Donaires, João P. Lopes da Silva, Zejuan Li, Soma Das, Maria Ibanez, Alexander E. Smith, Nicholas Lea, Steven Best, Robin Ireland, Austin G. Kulasekararaj, Donal P. McLornan, Anthony Pagliuca, Isabelle Callebaut, Neal S. Young, Rodrigo T. Calado, Danielle M. Townsley, Ghulam J Mufti

Blood Adv. 2018 Jan 9; 2(1): 36–48. Published online 2018 Jan 4. doi: 10.1182/bloodadvances.2017008110

PMCID:: PMC5761623

Abstract Article PDF–1.6M

Select item 574930412.

Genome-wide association study of telomere length among South Asians identifies a second RTEL1 association signal

Dayana A Delgado, Chenan Zhang, Lin S Chen, Jianjun Gao, Shantanu Roy, Justin Shinkle, Mekala Sabarinathan, Maria Argos, Lin Tong, Alauddin Ahmed, Tariqul Islam, Muhammad Rakibuz-Zaman, Golam Sarwar, Hasan Shahriar, Mahfuzar Rahman, Mohammad Yunus, Farzana Jasmine, Muhammad G Kibriya, Habibul Ahsan, Brandon L Pierce

J Med Genet. 2018 Jan; 55(1): 64–71. Published online 2017 Nov 18. doi: 10.1136/jmedgenet-2017-104922

PMCID:: PMC5749304

Abstract Article PDF–839K

Select item 562633013.

Association between regulator of telomere elongation helicase1 (RTEL1) gene and HAPE risk: A case-control study

Hao Rong, Xue He, Linhao Zhu, Xikai Zhu, Longli Kang, Li Wang, Yongjun He, Dongya Yuan, Tianbo Jin

Medicine (Baltimore) 2017 Sep; 96(39): e8222. Published online 2017 Sep 29. doi: 10.1097/MD.0000000000008222

PMCID:: PMC5626330

Abstract Article PDF–264K

Select item 472418814.

Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing

Sara Franceschi, Francesca Lessi, Paolo Aretini, Chiara M. Mazzanti, Michele Menicagli, Marco La Ferla, Veronica De Gregorio, Davide Caramella, Antonio G. Naccarato, Generoso Bevilacqua, Angelo G. Bonadio, Francesco Pasqualetti

Neuro Oncol. 2016 Feb; 18(2): 298–300. Published online 2016 Jan 21. doi: 10.1093/neuonc/nov314

PMCID:: PMC4724188

Article PDF–235K

Select item 438477715.

Rare Variants in RTEL1 Are Associated with Familial Interstitial Pneumonia

Joy D. Cogan, Jonathan A. Kropski, Min Zhao, Daphne B. Mitchell, Lynette Rives, Cheryl Markin, Errine T. Garnett, Keri H. Montgomery, Wendi R. Mason, David F. McKean, Julia Powers, Elissa Murphy, Lana M. Olson, Leena Choi, Dong-Sheng Cheng, Elizabeth Marchani Blue, Lisa R. Young, Lisa H. Lancaster, Mark P. Steele, Kevin K. Brown, Marvin I. Schwarz, Tasha E. Fingerlin, David A. Schwartz, William E. Lawson, James E. Loyd, Zhongming Zhao, John A. Phillips, III, Timothy S. Blackwell

Am J Respir Crit Care Med. 2015 Mar 15; 191(6): 646–655. Published online 2015 Mar 15. doi: 10.1164/rccm.201408-1510OC

PMCID:: PMC4384777

Abstract Article PDF–1.1M

Select item 433036416.

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA

Michael Schertzer, Karina Jouravleva, Mylene Perderiset, Florent Dingli, Damarys Loew, Tangui Le Guen, Barbara Bardoni, Jean-Pierre de Villartay, Patrick Revy, Arturo Londoño-Vallejo

Nucleic Acids Res. 2015 Feb 18; 43(3): 1834–1847. Published online 2015 Jan 27. doi: 10.1093/nar/gku1402

PMCID:: PMC4330364

Abstract Article PDF–8.6M

Select item 366136117.

RTEL1 tagging SNPs and haplotypes were associated with glioma development

Gang Li, Tianbo Jin, Hongjuan Liang, Zhiguo Zhang, Shiming He, Yanyang Tu, Haixia Yang, Tingting Geng, Guangbin Cui, Chao Chen, Guodong Gao

Diagn Pathol. 2013; 8: 83. Published online 2013 May 17. doi: 10.1186/1746-1596-8-83

PMCID:: PMC3661361

Abstract Article PDF–210K

Select item 360011018.

Germline Mutations of Regulator of Telomere Elongation Helicase 1, RTEL1, In Dyskeratosis Congenita

Bari J. Ballew, Meredith Yeager, Kevin Jacobs, Neelam Giri, Joseph Boland, Laurie Burdett, Blanche P. Alter, Sharon A. Savage

Hum Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Hum Genet. 2013 Apr; 132(4): 473–480. Published online 2013 Jan 18. doi: 10.1007/s00439-013-1265-8

PMCID:: PMC3600110

Abstract Article PDF–1.2M

Select item 358629719.

Known glioma risk loci are associated with glioma with a family history of brain tumours - a case-control gene association study

Beatrice Melin, Anna M. Dahlin, Ulrika Andersson, Zhaoming Wang, Roger Henriksson, Göran Hallmans, Melissa L. Bondy, Christoffer Johansen, Maria Feychting, Anders Ahlbom, Cari M. Kitahara, Sophia S. Wang, Avima M. Ruder, Tania Carreón, Mary Ann Butler, Peter D. Inskip, Mark Purdue, Ann W. Hsing, Leah Mechanic, Elizabeth Gillanders, Meredith Yeager, Martha Linet, Stephen J. Chanock, Patricia Hartge, Preetha Rajaraman

Int J Cancer. Author manuscript; available in PMC 2014 May 15.

Published in final edited form as: Int J Cancer. 2013 May 15; 132(10): 2464–2468. Published online 2012 Nov 21. doi: 10.1002/ijc.27922

PMCID:: PMC3586297

Abstract Article PDF–48K

Select item 1103940920.

Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure

Evgeniia M. Maksiutenko, Valeriia Merkureva, Yury A. Barbitoff, Victoria V. Tsay, Mikhail V. Aseev, Andrey S. Glotov, Oleg S. Glotov

Physiol Rep. 2024 Apr; 12(8): e16015. Published online 2024 Apr 23. doi: 10.14814/phy2.16015

PMCID:: PMC11039409

Abstract Article PDF–818K

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