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Items: 1 to 20 of 122

1.
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
AbstractArticlePDF–629K
2.
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
AbstractArticlePDF–600K
3.
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
AbstractArticlePDF–898K
4.
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
AbstractArticlePDF–2.4M
5.
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
AbstractArticlePDF–284K
6.
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
AbstractArticlePDF–935K
7.
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
AbstractArticlePDF–3.4M
8.
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
ArticlePDF–407K
9.
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
AbstractArticlePDF–3.6M
10.
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
AbstractArticlePDF–2.8M
11.
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
AbstractArticlePDF–2.1M
12.
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
AbstractArticlePDF–1.7M
13.
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
AbstractArticlePDF–18M
14.
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
AbstractArticlePDF–8.0M
15.
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
AbstractArticlePDF–487K
16.
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
AbstractArticlePDF–710K
17.
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
AbstractArticlePDF–5.2M
18.
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
AbstractArticlePDF–650K
19.
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
AbstractArticlePDF–2.3M
20.
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
AbstractArticle

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