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Select item 110394091.

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

Select item 109671112.

High expression of RTEL1 predicates worse progression in gliomas and promotes tumorigenesis through JNK/ELK1 cascade

Guanjie Wang, Xiaojuan Ren, Jianying Li, Rongrong Cui, Xumin Zhao, Fang Sui, Juan Liu, Pu Chen, Qi Yang, Meiju Ji, Peng Hou, Ke Gao, Yiping Qu

BMC Cancer. 2024; 24: 385. Published online 2024 Mar 26. doi: 10.1186/s12885-024-12134-8

PMCID:: PMC10967111

Abstract Article PDF–9.4M

Select item 108537783.

Harmonin homology domain-mediated interaction of RTEL1 helicase with RPA and DNA provides insights into its recruitment to DNA repair sites

Niranjan Kumar, Arushi Taneja, Meenakshi Ghosh, Ulli Rothweiler, Nagalingam Ravi Sundaresan, Mahavir Singh

Nucleic Acids Res. 2024 Feb 9; 52(3): 1450–1470. Published online 2023 Dec 28. doi: 10.1093/nar/gkad1208

PMCID:: PMC10853778

Abstract Article PDF–3.4M

Select item 107419594.

Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase

Michael Schertzer, Laurent Jullien, André L. Pinto, Rodrigo T. Calado, Patrick Revy, Arturo Londoño-Vallejo

Cells. 2023 Dec; 12(24): 2798. Published online 2023 Dec 8. doi: 10.3390/cells12242798

PMCID:: PMC10741959

Abstract Article PDF–4.4M

Select item 106758725.

RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children

Ting Zhang, Chunlei Zhou, Jiejie Guo, Jiamin Chang, Haiyan Wu, Jing He

BMC Cancer. 2023; 23: 1145. Published online 2023 Nov 24. doi: 10.1186/s12885-023-11642-3

PMCID:: PMC10675872

Abstract Article PDF–922K

Select item 102763966.

Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder

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 102431167.

Comprehensive Interactome Mapping of the DNA Repair Scaffold SLX4 Using Proximity Labeling and Affinity Purification

Camila M. Aprosoff, Boris J.A. Dyakov, Vivian H.W. Cheung, Cassandra J. Wong, Mikaela Palandra, Anne-Claude Gingras, Haley D.M. Wyatt

J Proteome Res. 2023 Jun 2; 22(6): 1660–1681. Published online 2023 Apr 18. doi: 10.1021/acs.jproteome.2c00706

PMCID:: PMC10243116

Abstract Article PDF–13M

Select item 98756228.

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 98099849.

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 977999710.

USP2 Inhibits Lung Cancer Pathogenesis by Reducing ARID2 Protein Degradation via Ubiquitination

Lihuan Zhu, Zhizhong Chen, Tianxing Guo, Wenshu Chen, Lilan Zhao, Lingwen Guo, Xiaojie Pan

Biomed Res Int. 2022; 2022: 1525216. Published online 2022 Dec 15. doi: 10.1155/2022/1525216

PMCID:: PMC9779997

Abstract Article PDF–2.3M

Select item 963127111.

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 910523512.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

Select item 907685513.

Decoy receptor 3 is involved in epidermal keratinocyte commitment to terminal differentiation via EGFR and PKC activation

Nan-Lin Wu, Duen-Yi Huang, Shie-Liang Hsieh, Yang-Shia Dai, Wan-Wan Lin

Exp Mol Med. 2022 Apr; 54(4): 542–551. Published online 2022 Apr 27. doi: 10.1038/s12276-022-00762-8

PMCID:: PMC9076855

Abstract Article PDF–2.1M

Select item 841802914.

Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review

Ping Wang, Zuojun Xu

BMC Pulm Med. 2021; 21: 279. Published online 2021 Sep 3. doi: 10.1186/s12890-021-01645-w

PMCID:: PMC8418029

Abstract Article PDF–1.2M

Select item 835296415.

Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger

Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y

PMCID:: PMC8352964

Abstract Article PDF–4.5M

Select item 830719416.

Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation

Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee

Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572

PMCID:: PMC8307194

Abstract Article PDF–2.8M

Select item 816503017.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 814015718.

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 804593219.

A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition

Yahya Benslimane, María Sánchez‐Osuna, Jasmin Coulombe‐Huntington, Thierry Bertomeu, Danielle Henry, Caroline Huard, Éric Bonneil, Pierre Thibault, Mike Tyers, Lea Harrington

Aging Cell. 2021 Apr; 20(4): e13331. Published online 2021 Mar 4. doi: 10.1111/acel.13331

PMCID:: PMC8045932

Abstract Article PDF–1.9M

Select item 786343020.

Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation

Xiaoqing Fan, Haoran Yang, Chenggang Zhao, Lizhu Hu, Delong Wang, Ruiting Wang, Zhiyou Fang, Xueran Chen

Stem Cell Res Ther. 2021; 12: 107. Published online 2021 Feb 4. doi: 10.1186/s13287-021-02175-2

PMCID:: PMC7863430

Abstract Article PDF–6.5M

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