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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 103552405.

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 90287186.

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 90147927.

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 87166708.

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 85839819.

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 824372210.

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 820486311.

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 789234612.

Comprehensive characterisation of intronic mis-splicing mutations in human cancers

Hyunchul Jung, Kang Seon Lee, Jung Kyoon Choi

Oncogene. 2021; 40(7): 1347–1361. Published online 2021 Jan 8. doi: 10.1038/s41388-020-01614-3

PMCID:: PMC7892346

Abstract Article PDF–1.7M

Select item 770670713.

Replication stress conferred by POT1 dysfunction promotes telomere relocalization to the nuclear pore

Alexandra M. Pinzaru, Mike Kareh, Noa Lamm, Eros Lazzerini-Denchi, Anthony J. Cesare, Agnel Sfeir

Genes Dev. 2020 Dec 1; 34(23-24): 1619–1636. doi: 10.1101/gad.337287.120

PMCID:: PMC7706707

Abstract Article PDF–18M

Select item 770545614.

Human shelterin protein POT1 prevents severe telomere instability induced by homology‐directed DNA repair

Galina Glousker, Anna‐Sophia Briod, Manfredo Quadroni, Joachim Lingner

EMBO J. 2020 Dec 1; 39(23): e104500. Published online 2020 Oct 19. doi: 10.15252/embj.2020104500

PMCID:: PMC7705456

Abstract Article PDF–8.0M

Select item 742747815.

POT1 mutation spectrum in tumor types commonly diagnosed among POT1-associated hereditary cancer syndrome families

Erica Shen, Joanne Xiu, Giselle Y. López, Rex Bentley, Ali Jalali, Amy B. Heimberger, Matthew N. Bainbridge, Melissa L. Bondy, Kyle M. Walsh

J Med Genet. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: J Med Genet. 2020 Oct; 57(10): 664–670. Published online 2020 Jan 14. doi: 10.1136/jmedgenet-2019-106657

PMCID:: PMC7427478

Abstract Article PDF–487K

Select item 723000116.

The enigma of excessively long telomeres in cancer: lessons learned from rare human POT1 variants

Yi Gong, Amanda J. Stock, Yie Liu

Curr Opin Genet Dev. Author manuscript; available in PMC 2021 Mar 8.

Published in final edited form as: Curr Opin Genet Dev. 2020 Feb; 60: 48–55. Published online 2020 Mar 8. doi: 10.1016/j.gde.2020.02.002

PMCID:: PMC7230001

Abstract Article PDF–710K

Select item 722982817.

Human POT1 unfolds G-quadruplexes by conformational selection

Jonathan B Chaires, Robert D Gray, William L Dean, Robert Monsen, Lynn W DeLeeuw, Vilius Stribinskis, John O Trent

Nucleic Acids Res. 2020 May 21; 48(9): 4976–4991. Published online 2020 Mar 31. doi: 10.1093/nar/gkaa202

PMCID:: PMC7229828

Abstract Article PDF–5.2M

Select item 701030218.

Genetic variation in POT1 and risk of thyroid subsequent malignant neoplasm: A report from the Childhood Cancer Survivor Study

Melissa A. Richard, Philip J. Lupo, Lindsay M. Morton, Yutaka A. Yasui, Yadav A. Sapkota, Michael A. Arnold, Geraldine Aubert, Joseph P. Neglia, Lucie M. Turcotte, Wendy M. Leisenring, Joshua N. Sampson, Stephen J. Chanock, Melissa M. Hudson, Gregory T. Armstrong, Leslie L. Robison, Smita Bhatia, Maria Monica Gramatges

PLoS One. 2020; 15(2): e0228887. Published online 2020 Feb 10. doi: 10.1371/journal.pone.0228887

PMCID:: PMC7010302

Abstract Article PDF–650K

Select item 681800719.

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas

Oriol Calvete, Pablo Garcia‐Pavia, Fernando Domínguez, Lluc Mosteiro, Lucía Pérez‐Cabornero, Diego Cantalapiedra, Esther Zorio, Teresa Ramón y Cajal, Maria G. Crespo‐Leiro, Álex Teulé, Conxi Lázaro, Manuel M. Morente, Miguel Urioste, Javier Benitez

J Am Heart Assoc. 2019 Sep 17; 8(18): e012875. Published online 2019 Sep 12. doi: 10.1161/JAHA.119.012875

PMCID:: PMC6818007

Abstract Article PDF–2.3M

Select item 650688920.

Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma

Kim Wong, Carla Daniela Robles-Espinoza, David Rodriguez, Saskia S. Rudat, Susana Puig, Miriam Potrony, Chi C. Wong, James Hewinson, Paula Aguilera, Joan Anton Puig-Butille, Brigitte Bressac-de Paillerets, Hélène Zattara, Louise van der Weyden, Christopher D. M. Fletcher, Thomas Brenn, Mark J. Arends, Víctor Quesada, Julia A. Newton-Bishop, Carlos Lopez-Otin, D. Timothy Bishop, Paul W. Harms, Timothy M. Johnson, Alison B. Durham, David B. Lombard, David J. Adams

JAMA Dermatol. 2019 May; 155(5): 604–609. Published online 2018 Dec 26. doi: 10.1001/jamadermatol.2018.3662

PMCID:: PMC6506889

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