Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 81 Records) |
Query Trace: POT1[original query] |
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The prevalence and characterisation of TRAF3 and POT1 mutations in canine B-cell lymphoma. Veterinary journal (London, England : 1997) 2020 Dec 266 105575. Smith P A D, Waugh E M, Crichton C, Jarrett R F, Morris J |
A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes. International journal of molecular sciences 2020 Dec 21 (24): . De Simone Paola, Bottillo Irene, Valiante Michele, Iorio Alessandra, De Bernardo Carmelilia, Majore Silvia, D'Angelantonio Daniela, Valentini Tiziana, Sperduti Isabella, Piemonte Paolo, Eibenschutz Laura, Ferrari Angela, Carbone Anna, Buccini Pierluigi, Paiardini Alessandro, Silipo Vitaliano, Frascione Pasquale, Grammatico Pao |
Association between genetic polymorphisms of telomere pathway genes and hydrogen peroxide level in omethoate exposure workers. Environmental toxicology and pharmacology 2020 Nov 103541. Zhou Xiaoshan, Li Xinling, Wei Wan, Duan Xiaoran, Zhang Hui, Ding Mingcui, Yao Wu, Wang Qi, Wang Wei, Yang Yong |
Predictive significance of selected gene mutations in relapsed and refractory chronic lymphocytic leukemia patients treated with ibrutinib. European journal of haematology 2020 Nov . Machnicki Marcin M, Górniak Patryk, P?pek Monika, Szymczyk Agnieszka, Iskierka-Ja?d?ewska El?bieta, Steckiewicz Pawe?, Bluszcz Aleksandra, Rydzanicz Ma?gorzata, Hus Marek, P?oski Rafa?, Makuch-?asica Hanna, Nowak Gra?yna, Juszczy?ski Przemys?aw, Jamroziak Krzysztof, Stok?osa Tomasz, Pu?a Barto |
Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1. Haematologica 2020 Jan 105 (10): 2440-2447. Tausch Eugen, Beck Philipp, Schlenk Richard F, Jebaraj Billy J, Dolnik Anna, Yosifov Deyan Y, Hillmen Peter, Offner Fritz, Janssens Ann, Babu Govind K, Grosicki Sebastian, Mayer Jiri, Panagiotidis Panagiotis, McKeown Astrid, Gupta Ira V, Skorupa Alexandra, Pallaud Celine, Bullinger Lars, Mertens Daniel, Döhner Hartmut, Stilgenbauer Steph |
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes. Biomedicines 2020 Oct 8 (10): . Stolarova Lenka, Jelinkova Sandra, Storchova Radka, Machackova Eva, Zemankova Petra, Vocka Michal, Kodet Ondrej, Kral Jan, Cerna Marta, Volkova Zuzana, Janatova Marketa, Soukupova Jana, Stranecky Viktor, Dundr Pavel, Foretova Lenka, Macurek Libor, Kleiblova Petra, Kleibl Zden |
Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
Communications biology 2021 5 4 (1): 519. Chang Xuling, Gurung Resham L, Wang Ling, Jin Aizhen, Li Zheng, Wang Renwei, Beckman Kenneth B, Adams-Haduch Jennifer, Meah Wee Yang, Sim Kar Seng, Lim Weng Khong, Davila Sonia, Tan Patrick, Teo Jing Xian, Yeo Khung Keong, M Yiamunaa, Liu Sylvia, Lim Su Chi, Liu Jianjun, van Dam Rob M, Friedlander Yechiel, Koh Woon-Puay, Yuan Jian-Min, Khor Chiea Chuen, Heng Chew-Kiat, Dorajoo Rajkum |
Genetic markers for characterization and prediction of prognosis of melanoma subtypes: a 2021 update. Italian journal of dermatology and venereology 2021 5 156 (3): 322-330. Podlipnik Sebastian, Potrony Miriam, Puig Susa |
POT1 Regulates Proliferation and Confers Sexual Dimorphism in Glioma. Cancer research 2021 3 81 (10): 2703-2713. Jalali Ali, Yu Kwanha, Beechar Vivek, Bosquez Huerta Navish A, Grichuk Anthony, Mehra Deepika, Lozzi Brittney, Kong Kathleen, Scott Kenneth L, Rao Ganesh, Bainbridge Matthew N, Bondy Melissa L, Deneen Benjam |
Melanoma in children and adolescents: analysis of susceptibility genes in 123 Italian patients. Journal of the European Academy of Dermatology and Venereology : JEADV 2021 10 36 (2): 213-221. Pellegrini C, Raimondi S, Di Nardo L, Ghiorzo P, Menin C, Manganoni M A, Palmieri G, Guida G, Quaglino P, Stanganelli I, Massi D, Pastorino L, Elefanti L, Tosti G, Queirolo P, Leva A, Maurichi A, Rodolfo M, Fargnoli M C, |
Genomic Landscape of Angiosarcoma: A Targeted and Immunotherapy Biomarker Analysis. Cancers 2021 10 13 (19): . Espejo-Freire Andrea P, Elliott Andrew, Rosenberg Andrew, Costa Philippos Apolinario, Barreto-Coelho Priscila, Jonczak Emily, D'Amato Gina, Subhawong Ty, Arshad Junaid, Diaz-Perez Julio A, Korn William M, Oberley Matthew J, Magee Daniel, Dizon Don, von Mehren Margaret, Khushman Moh'd M, Hussein Atif Mahmoud, Leu Kirsten, Trent Jonathan |
POT1 mutations are frequent and associated with Ki-67 index in canine diffuse large B-cell lymphoma. Frontiers in veterinary science 2022 8 9 968807. Fanelli Antonella, Marconato Laura, Licenziato Luca, Minoli Lucia, Rouquet Nicole, Aresu Lu |
Unusual suspects in hereditary melanoma: POT1, POLE, BAP1. Trends in genetics : TIG 2022 7 38 (12): 1204-1207. Maas Ellie J, Betz-Stablein Brigid, Aoude Lauren G, Soyer H Peter, McInerney-Leo Aideen |
Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup. ESMO open 2022 7 7 (4): 100525. Bruno W, Dalmasso B, Barile M, Andreotti V, Elefanti L, Colombino M, Vanni I, Allavena E, Barbero F, Passoni E, Merelli B, Pellegrini S, Morgese F, Danesi R, Calò V, Bazan V, D'Elia A V, Molica C, Gensini F, Sala E, Uliana V, Soma P F, Genuardi M, Ballestrero A, Spagnolo F, Tanda E, Queirolo P, Mandalà M, Stanganelli I, Palmieri G, Menin C, , Pastorino L, Ghiorzo |
Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma? Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 Jun . Macauda Angelica, Clay-Gilmour Alyssa, Hielscher Thomas, Hildebrandt Michelle A T, Kruszewski Marcin, Orlowski Robert Z, Kumar Shaji K, Ziv Elad, Orciuolo Enrico, Brown Elizabeth E, Försti Asta, Waller Rosalie G, Machiela Mitchell J, Chanock Stephen J, Camp Nicola J, Rymko Marcin, Ra?ny Ma?gorzata, Cozen Wendy, Várkonyi Judit, Piredda Chiara, Pelosini Matteo, Belachew Alem A, Subocz Edyta, Hemminki Kari, Rybicka-Ramos Malwina, Giles Graham G, Milne Roger L, Hofmann Jonathan N, Zaucha Jan Maciej, Vangsted Annette Juul, Goldschmidt Hartmut, Rajkumar S Vincent, Tomczak Waldemar, Sainz Juan, Butrym Aleksandra, Watek Marzena, Iskierka-Jazdzewska El?bieta, Buda Gabriele, Robinson Dennis P, Jurczyszyn Artur, Dudzi?ski Marek, Martinez-Lopez Joaquin, Sinnwell Jason P, Slager Susan L, Jamroziak Krzysztof, Reis Rui Manuel Vieira, Weinhold Niels, Bhatti Parveen, Carvajal-Carmona Luis G, Zawirska Daria, Norman Aaron D, Mazur Grzegorz, Berndt Sonja I, Campa Daniele, Vachon Celine M, Canzian Federi |
Identification of a Cancer-Predisposing Germline POT1 p.Ile49Metfs*7 Variant by Targeted Sequencing of a Splenic Marginal Zone Lymphoma. Genes 2022 4 13 (4): . Jajosky Audrey N, Mitchell Anna L, Akgul Mahmut, Shetty Shashirekha, Yoest Jennifer M, Gerson Stanton L, Sadri Navid, Oduro Kwadwo |
A germline exome analysis reveals harmful POT1 variants in multiple myeloma patients and families. EJHaem 2022 12 3 (4): 1352-1357. Hakkarainen Marja, Koski Jessica R, Heckman Caroline A, Anttila Pekka, Silvennoinen Raija, Lievonen Juha, Kilpivaara Outi, Wartiovaara-Kautto Ul |
Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY. Leukemia 2022 12 37 (2): 339-347. Mansouri Larry, Thorvaldsdottir Birna, Sutton Lesley-Ann, Karakatsoulis Georgios, Meggendorfer Manja, Parker Helen, Nadeu Ferran, Brieghel Christian, Laidou Stamatia, Moia Riccardo, Rossi Davide, Catherwood Mark, Kotaskova Jana, Delgado Julio, Rodríguez-Vicente Ana E, Benito Rocío, Rigolin Gian Matteo, Bonfiglio Silvia, Scarfo Lydia, Mattsson Mattias, Davis Zadie, Gogia Ajay, Rani Lata, Baliakas Panagiotis, Foroughi-Asl Hassan, Jylhä Cecilia, Skaftason Aron, Rapado Inmaculada, Miras Fatima, Martinez-Lopez Joaquín, de la Serna Javier, Rivas Jesús María Hernández, Thornton Patrick, Larráyoz María José, Calasanz María José, Fésüs Viktória, Mátrai Zoltán, Bödör Csaba, Smedby Karin E, Espinet Blanca, Puiggros Anna, Gupta Ritu, Bullinger Lars, Bosch Francesc, Tazón-Vega Bárbara, Baran-Marszak Fanny, Oscier David, Nguyen-Khac Florence, Zenz Thorsten, Terol Maria Jose, Cuneo Antonio, Hernández-Sánchez María, Pospisilova Sarka, Mills Ken, Gaidano Gianluca, Niemann Carsten U, Campo Elias, Strefford Jonathan C, Ghia Paolo, Stamatopoulos Kostas, Rosenquist Richa |
Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohort. Journal of medical genetics 2022 12 . Simonin-Wilmer Irving, Ossio Raul, Leddin Emmett M, Harland Mark, Pooley Karen A, Martil de la Garza Mauricio Gerardo, Obolenski Sofia, Hewinson James, Wong Chi C, Iyer Vivek, Taylor John C, Newton-Bishop Julia A, Bishop D Timothy, Cisneros Gerardo Andrés, Iles Mark M, Adams David J, Robles-Espinoza Carla Danie |
Circulating tumour DNA biomarkers in savolitinib-treated patients with non-small cell lung cancer harbouring MET exon 14 skipping alterations: a post hoc analysis of a pivotal phase 2 study. Therapeutic advances in medical oncology 2022 11 14 17588359221133546. Yu Yongfeng, Ren Yongxin, Fang Jian, Cao Lejie, Liang Zongan, Guo Qisen, Han Sen, Ji Zimei, Wang Ye, Sun Yulan, Chen Yuan, Li Xingya, Xu Hua, Zhou Jianying, Jiang Liyan, Cheng Ying, Han Zhigang, Shi Jianhua, Chen Gongyan, Ma Rui, Fan Yun, Sun Sanyuan, Jiao Longxian, Jia Xiaoyun, Wang Linfang, Lu Puhan, Xu Qian, Luo Xian, Su Weiguo, Lu Sh |
Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families. PloS one 2022 1 17 (1): e0262419. Fidalgo Felipe, Torrezan Giovana Tardin, Sá Bianca Costa Soares de, Barros Bruna Durães de Figueiredo, Moredo Luciana Facure, Valieris Renan, de Souza Sandro J, Duprat João Pereira, Krepischi Ana Cristina Victorino, Carraro Dirce Mar |
Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India. BMC cancer 2023 9 23 (1): 874. Gh Rasool Bhat, Rajeshwer Singh Jamwal, Itty Sethi, Amrita Bhat, Ruchi Shah, Sonali Verma, Minerva Sharma, Hana Q Sadida, Sara K Al-Marzooqi, Tariq Masoodi, Sameer Mirza, Mohammad Haris, Muzafar A Macha, Ammira S Alshabeeb Akil, Ajaz A Bhat, Rakesh Kum |
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma. HGG advances 2023 8 4 (4): 100225. Marlene Richter Jensen, Anne Marie Jelsig, Anne-Marie Gerdes, Lisbet Rosenkrantz Hölmich, Kati Hannele Kainu, Henrik Frank Lorentzen, Mary Højgaard Hansen, Mads Bak, Peter A Johansson, Nicholas K Hayward, Thomas Van Overeem Hansen, Karin A W Wa |
High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: a multicenter cohort from the MelaNostrum Consortium. Journal of the European Academy of Dermatology and Venereology : JEADV 2023 8 . C Pellegrini, L Cardelli, P Ghiorzo, L Pastorino, M Potrony, Z García-Casado, L Elefanti, I Stefanaki, M Mastrangelo, S Necozione, P Aguilera, A Rodríguez-Hernández, L Di Nardo, T Rocco, L Del Regno, C Badenas, C Carrera, J Malvehy, C Requena, J Bañuls, A J Stratigos, K Peris, C Menin, D Calista, E Nagore, S Puig, M T Landi, M C Fargno |
Familial Clonal Hematopoiesis in a Long Telomere Syndrome. The New England journal of medicine 2023 5 . 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 Armani |
A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer. American journal of respiratory and critical care medicine 2023 5 . Sipeng Shen, Zaiming Li, Yunke Jiang, Weiwei Duan, Hongru Li, Sha Du, Manel Esteller, Hongbing Shen, Zhibin Hu, Yang Zhao, David C Christiani, Feng Ch |
Telomere Length as a New Risk Marker of Early-Onset Colorectal Cancer. International journal of molecular sciences 2023 2 24 (4): . Martel-Martel Abel, Corchete Luis A, Martí Marc, Vidal-Tocino Rosario, Hurtado Elena, Álvaro Edurne, Jiménez Fernando, Jiménez-Toscano Marta, Balaguer Francesc, Sanz Gonzalo, López Irene, Hernández-Villafranca Sergio, Ballestero Araceli, Vivas Alfredo, Melone Sirio, Pastor Carlos, Brandáriz Lorena, Gómez-Marcos Manuel A, Cruz-Hernández Juan J, Perea José, González-Sarmiento Rogel |
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients. International journal of molecular sciences 2023 11 24 (21): . Bianca Costa Soares de Sá, Luciana Facure Moredo, Giovana Tardin Torrezan, Felipe Fidalgo, Érica Sara Souza de Araújo, Maria Nirvana Formiga, João Pereira Duprat, Dirce Maria Carra |
Absence of BTK, BCL2, and PLCG2 Mutations in Chronic Lymphocytic Leukemia Relapsing after First-Line Treatment with Fixed-Duration Ibrutinib plus Venetoclax. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 11 OF1-OF8. Nitin Jain, Lisa J Croner, John N Allan, Tanya Siddiqi, Alessandra Tedeschi, Xavier C Badoux, Karl Eckert, Leo W K Cheung, Anwesha Mukherjee, James P Dean, Edith Szafer-Glusman, John F Seymo |
Genomic profiling reveals the variant landscape of sporadic parathyroid adenomas in Chinese population. The Journal of clinical endocrinology and metabolism 2023 1 . Tao Xiaohui, Xu Tian, Lin Xiaoyun, Xu Shuqin, Fan Youben, Guo Bomin, Deng Xianzhao, Jiao Qiong, Chen Lihui, Wei Zhe, Chen Chengkun, Yang Wendi, Zhang Zhenlin, Yu Xiangtian, Yue H |
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