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Select item 109701791.

A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies

Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Sarit Farage Barhom, Michal Naftali, Marina Eskin-Schwartz, Ohad S. Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Tamar Yablonski-Peretz, Ahmad Mahamid, Ori Segol, Reut Matar, Yifat Bareli, Noy Azoulay, Yael Goldberg

Genes (Basel) 2024 Mar; 15(3): 355. Published online 2024 Mar 13. doi: 10.3390/genes15030355

PMCID:: PMC10970179

Abstract Article PDF–629K

Select item 109075862.

Decreased telomere length in a subgroup of young individuals with bipolar disorders: replication in the FACE-BD cohort and association with the shelterin component POT1

Luana Spano, Cynthia Marie-Claire, Ophélia Godin, Apolline Lebras, Cindie Courtin, Jean-Louis Laplanche, Marion Leboyer, Bruno Aouizerate, Antoine Lefrere, Raoul Belzeaux, Philippe Courtet, Emilie Olié, Caroline Dubertret, Raymund Schwan, Valérie Aubin, Paul Roux, Mircea Polosan, Ludovic Samalin, Emmanuel Haffen, Fondamental Advanced Centers Of Expertise In Bipolar Disorders (Face-Bd) Collaborators, Frank Bellivier, Bruno Etain

Transl Psychiatry. 2024; 14: 131. Published online 2024 Mar 1. doi: 10.1038/s41398-024-02824-z

PMCID:: PMC10907586

Abstract Article PDF–600K

Select item 108153633.

Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome

Virginia Andreotti, Irene Vanni, Lorenza Pastorino, Paola Ghiorzo, William Bruno

Genes (Basel) 2024 Jan; 15(1): 104. Published online 2024 Jan 16. doi: 10.3390/genes15010104

PMCID:: PMC10815363

Abstract Article PDF–898K

Select item 106668264.

Human POT1 protects the telomeric ds-ss DNA junction by capping the 5’ end of the chromosome

Valerie M. Tesmer, Kirsten A. Brenner, Jayakrishnan Nandakumar

Science. Author manuscript; available in PMC 2023 Nov 23.

Published in final edited form as: Science. 2023 Aug 18; 381(6659): 771–778. Published online 2023 Aug 17. doi: 10.1126/science.adi2436

PMCID:: PMC10666826

Abstract Article PDF–2.4M

Select item 105011565.

Familial Clonal Hematopoiesis in a Long Telomere Syndrome

Emily A. DeBoy, Michael G. Tassia, Kristen E. Schratz, Stephanie M. Yan, Zoe L. Cosner, Emily J. McNally, Dustin L. Gable, Zhimin Xiang, David B. Lombard, Emmanuel S. Antonarakis, Christopher D. Gocke, Rajiv C. McCoy, Mary Armanios

N Engl J Med. Author manuscript; available in PMC 2023 Dec 29.

Published in final edited form as: N Engl J Med. 2023 Jun 29; 388(26): 2422–2433. Published online 2023 May 4. doi: 10.1056/NEJMoa2300503

PMCID:: PMC10501156

Abstract Article PDF–1.9M

Select item 103552406.

Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer

Aida Orois, Celia Badenas, Jordi L. Reverter, Verónica López, Miriam Potrony, Mireia Mora, Irene Halperin, Josep Oriola

Horm Cancer. 2020 Apr; 11(2): 111–116. Published online 2020 Mar 14. doi: 10.1007/s12672-020-00383-5

PMCID:: PMC10355240

Abstract Article PDF–284K

Select item 92792857.

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery

Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili

Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z

PMCID:: PMC9279285

Abstract Article PDF–2.5M

Select item 91197368.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 90287189.

Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma

Audrey N. Jajosky, Anna L. Mitchell, Mahmut Akgul, Shashirekha Shetty, Jennifer M. Yoest, Stanton L. Gerson, Navid Sadri, Kwadwo A. Oduro, Jr.

Genes (Basel) 2022 Apr; 13(4): 591. Published online 2022 Mar 26. doi: 10.3390/genes13040591

PMCID:: PMC9028718

Abstract Article PDF–935K

Select item 901479210.

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis

Joseph Kelich, Tomas Aramburu, Joanne J. van der Vis, Louise Showe, Andrew Kossenkov, Jasper van der Smagt, Maarten Massink, Angela Schoemaker, Eric Hennekam, Marcel Veltkamp, Coline H.M. van Moorsel, Emmanuel Skordalakes

J Exp Med. 2022 May 2; 219(5): e20211681. Published online 2022 Apr 14. doi: 10.1084/jem.20211681

PMCID:: PMC9014792

Abstract Article PDF–3.4M

Select item 871667011.

Germline POT1 Variants Can Predispose to Myeloid and Lymphoid Neoplasms

Tristan L. Lim, David B. Lieberman, Adam R. Davis, Alison W. Loren, Ryan Hausler, Ashkan Bigdeli, Yimei Li, Jacquelyn Powers, Anna Raper, Regeneron Genetics Center, Shannon A. Carty, Katherine L. Nathanson, Adam Bagg, Elizabeth O. Hexner, Kara N. Maxwell, Jennifer J.D. Morrissette, Daria V. Babushok

Leukemia. Author manuscript; available in PMC 2022 Jan 6.

Published in final edited form as: Leukemia. 2022 Jan; 36(1): 283–287. Published online 2021 Jun 30. doi: 10.1038/s41375-021-01335-w

PMCID:: PMC8716670

Article PDF–407K

Select item 864366712.

TRF2 promotes dynamic and stepwise looping of POT1 bound telomeric overhang

Tapas Paul, Wilson Liou, Xinyi Cai, Patricia L Opresko, Sua Myong

Nucleic Acids Res. 2021 Dec 2; 49(21): 12377–12393. Published online 2021 Nov 25. doi: 10.1093/nar/gkab1123

PMCID:: PMC8643667

Abstract Article PDF–6.6M

Select item 858398113.

Germline POT1 Deregulation Can Predispose to Myeloid Malignancies in Childhood

Pia Michler, Anne Schedel, Martha Witschas, Ulrike Anne Friedrich, Rabea Wagener, Juha Mehtonen, Triantafyllia Brozou, Maria Menzel, Carolin Walter, Dalileh Nabi, Glen Pearce, Miriam Erlacher, Gudrun Göhring, Martin Dugas, Merja Heinäniemi, Arndt Borkhardt, Friedrich Stölzel, Julia Hauer, Franziska Auer

Int J Mol Sci. 2021 Nov; 22(21): 11572. Published online 2021 Oct 26. doi: 10.3390/ijms222111572

PMCID:: PMC8583981

Abstract Article PDF–3.6M

Select item 850199614.

Multiple hPOT1–TPP1 cooperatively unfold contiguous telomeric G-quadruplexes proceeding from 3′ toward 5′, a feature due to a 3′-end binding preference and to structuring of telomeric DNA

Jean Chatain, Georges Hatem, Emmanuelle Delagoutte, Jean-François Riou, Patrizia Alberti, Carole Saintomé

Nucleic Acids Res. 2021 Oct 11; 49(18): 10735–10746. Published online 2021 Sep 17. doi: 10.1093/nar/gkab768

PMCID:: PMC8501996

Abstract Article PDF–3.0M

Select item 835388415.

SLX4IP promotes RAP1 SUMOylation by PIAS1 to coordinate telomere maintenance through NF-κB and Notch signaling

Nathaniel J. Robinson, Masaru Miyagi, Jessica A. Scarborough, Jacob G. Scott, Derek J. Taylor, William P. Schiemann

Sci Signal. Author manuscript; available in PMC 2021 Dec 29.

Published in final edited form as: Sci Signal. 2021 Jun 29; 14(689): eabe9613. Published online 2021 Jun 29. doi: 10.1126/scisignal.abe9613

PMCID:: PMC8353884

Abstract Article PDF–2.9M

Select item 824372216.

POT1 regulates proliferation and confers sexual dimorphism in glioma

Ali Jalali, Kwanha Yu, Vivek Beechar, Navish Bosquez Huerta, Anthony Grichuk, Deepika Mehra, Brittney Lozzi, Kathleen Kong, Kenneth L Scott, Ganesh Rao, Matthew N Bainbridge, Melissa L Bondy, Benjamin Deneen

Cancer Res. Author manuscript; available in PMC 2021 Nov 15.

Published in final edited form as: Cancer Res. 2021 May 15; 81(10): 2703–2713. Published online 2021 Mar 29. doi: 10.1158/0008-5472.CAN-20-3755

PMCID:: PMC8243722

Abstract Article PDF–2.8M

Select item 820486317.

Cancer‐associated POT1 mutations lead to telomere elongation without induction of a DNA damage response

Won‐Tae Kim, Kelsey Hennick, Joshua Johnson, Brendan Finnerty, Seunga Choo, Sarah B Short, Casey Drubin, Ryan Forster, Mary L McMaster, Dirk Hockemeyer

EMBO J. 2021 Jun 15; 40(12): e107346. Published online 2021 May 2. doi: 10.15252/embj.2020107346

PMCID:: PMC8204863

Abstract Article PDF–2.1M

Select item 819292218.

BRCA1 binds TERRA RNA and suppresses R-Loop-based telomeric DNA damage

Jekaterina Vohhodina, Liana J. Goehring, Ben Liu, Qing Kong, Vladimir V. Botchkarev Jr., Mai Huynh, Zhiqi Liu, Fieda O. Abderazzaq, Allison P. Clark, Scott B. Ficarro, Jarrod A. Marto, Elodie Hatchi, David M. Livingston

Nat Commun. 2021; 12: 3542. Published online 2021 Jun 10. doi: 10.1038/s41467-021-23716-6

PMCID:: PMC8192922

Abstract Article PDF–7.6M

Select item 816503019.

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 810809320.

DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity

Rajat Gupta, Kumar Somyajit, Takeo Narita, Elina Maskey, Andre Stanlie, Magdalena Kremer, Dimitris Typas, Michael Lammers, Niels Mailand, Andre Nussenzweig, Jiri Lukas, Chunaram Choudhary

Cell. Author manuscript; available in PMC 2021 May 10.

Published in final edited form as: Cell. 2018 May 3; 173(4): 972–988.e23. Published online 2018 Apr 12. doi: 10.1016/j.cell.2018.03.050

PMCID:: PMC8108093

Abstract Article PDF–3.5M

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