Human Genome Epidemiology Literature Finder
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Records 1 - 24 (of 24 Records) |
| Query Trace: Disease and POT1[original query] |
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| Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study. Clinica chimica acta; international journal of clinical chemistry 2011 Jan 412 (1-2): 199-202. Zee Robert Y L, Ridker Paul M, Chasman Daniel |
| Genetic variants of 11 telomere-pathway gene loci and the risk of incident type 2 diabetes mellitus: the Women's Genome Health Study. Atherosclerosis 2011 Sep 218 (1): 144-6. Zee Robert Y L, Ridker Paul M, Chasman Daniel |
| Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres. Thyroid : official journal of the American Thyroid Association 2012 Apr 22 (4): 363-8. Cantara Silvia, Capuano Serena, Capezzone Marco, Benigni Michele, Pisu Milena, Marchisotta Stefania, Pacini Fur |
| Genetic modification of the relationship between phosphorylated tau and neurodegeneration. Alzheimer's & dementia : the journal of the Alzheimer's Association 2014 Nov 10 (6): 637-645.e1. Hohman Timothy J, Koran Mary Ellen I, Thornton-Wells Tricia A, |
| Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting. Haematologica 2015 Mar 100 (3): 370-6. Sutton Lesley-Ann, Ljungström Viktor, Mansouri Larry, Young Emma, Cortese Diego, Navrkalova Veronika, Malcikova Jitka, Muggen Alice F, Trbusek Martin, Panagiotidis Panagiotis, Davi Frederic, Belessi Chrysoula, Langerak Anton W, Ghia Paolo, Pospisilova Sarka, Stamatopoulos Kostas, Rosenquist Richa |
Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies.
Nature communications 2019 06 10 (1): 2491. Dorajoo Rajkumar, Chang Xuling, Gurung Resham Lal, Li Zheng, Wang Ling, Wang Renwei, Beckman Kenneth B, Adams-Haduch Jennifer, M Yiamunaa, Liu Sylvia, Meah Wee Yang, Sim Kar Seng, Lim Su Chi, Friedlander Yechiel, Liu Jianjun, van Dam Rob M, Yuan Jian-Min, Koh Woon-Puay, Khor Chiea Chuen, Heng Chew-Ki |
| An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids. Frontiers in genetics 2019 3 10 158. Geng Xin, Irvin Marguerite R, Hidalgo Bertha, Aslibekyan Stella, Srinivasasainagendra Vinodh, An Ping, Frazier-Wood Alexis C, Tiwari Hemant K, Dave Tushar, Ryan Kathleen, Ordovas Jose M, Straka Robert J, Feitosa Mary F, Hopkins Paul N, Borecki Ingrid, Province Michael A, Mitchell Braxton D, Arnett Donna K, Zhi Deg |
| Constitutional variants in POT1, TERF2IP, and ACD genes in patients with melanoma in the Polish population. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2020 9 29 (6): 511-519. Mali?ska Karolina, Deptu?a Jakub, Rogo?a-Janiszewska Emilia, Górski Bohdan, Scott Rodney, Rudnicka Helena, Kashyap Aniruddh, Domaga?a Pawe?, Hybiak Jolanta, Masoj? Bart?omiej, Cybulski Cezary, Kram Andrzej, Boer Magdalena, Kiedrowicz Magdalena, Lubi?ski Jan, D?bniak Tadeu |
| Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.
Nature genetics 2020 Jun . Ishigaki Kazuyoshi, Akiyama Masato, Kanai Masahiro, Takahashi Atsushi, Kawakami Eiryo, Sugishita Hiroki, Sakaue Saori, Matoba Nana, Low Siew-Kee, Okada Yukinori, Terao Chikashi, Amariuta Tiffany, Gazal Steven, Kochi Yuta, Horikoshi Momoko, Suzuki Ken, Ito Kaoru, Koyama Satoshi, Ozaki Kouichi, Niida Shumpei, Sakata Yasushi, Sakata Yasuhiko, Kohno Takashi, Shiraishi Kouya, Momozawa Yukihide, Hirata Makoto, Matsuda Koichi, Ikeda Masashi, Iwata Nakao, Ikegawa Shiro, Kou Ikuyo, Tanaka Toshihiro, Nakagawa Hidewaki, Suzuki Akari, Hirota Tomomitsu, Tamari Mayumi, Chayama Kazuaki, Miki Daiki, Mori Masaki, Nagayama Satoshi, Daigo Yataro, Miki Yoshio, Katagiri Toyomasa, Ogawa Osamu, Obara Wataru, Ito Hidemi, Yoshida Teruhiko, Imoto Issei, Takahashi Takashi, Tanikawa Chizu, Suzuki Takao, Sinozaki Nobuaki, Minami Shiro, Yamaguchi Hiroki, Asai Satoshi, Takahashi Yasuo, Yamaji Ken, Takahashi Kazuhisa, Fujioka Tomoaki, Takata Ryo, Yanai Hideki, Masumoto Akihide, Koretsune Yukihiro, Kutsumi Hiromu, Higashiyama Masahiko, Murayama Shigeo, Minegishi Naoko, Suzuki Kichiya, Tanno Kozo, Shimizu Atsushi, Yamaji Taiki, Iwasaki Motoki, Sawada Norie, Uemura Hirokazu, Tanaka Keitaro, Naito Mariko, Sasaki Makoto, Wakai Kenji, Tsugane Shoichiro, Yamamoto Masayuki, Yamamoto Kazuhiko, Murakami Yoshinori, Nakamura Yusuke, Raychaudhuri Soumya, Inazawa Johji, Yamauchi Toshimasa, Kadowaki Takashi, Kubo Michiaki, Kamatani Yoichi |
| Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.
American journal of human genetics 2020 Feb . Li Chen, Stoma Svetlana, Lotta Luca A, Warner Sophie, Albrecht Eva, Allione Alessandra, Arp Pascal P, Broer Linda, Buxton Jessica L, Da Silva Couto Alves Alexessander, Deelen Joris, Fedko Iryna O, Gordon Scott D, Jiang Tao, Karlsson Robert, Kerrison Nicola, Loe Taylor K, Mangino Massimo, Milaneschi Yuri, Miraglio Benjamin, Pervjakova Natalia, Russo Alessia, Surakka Ida, van der Spek Ashley, Verhoeven Josine E, Amin Najaf, Beekman Marian, Blakemore Alexandra I, Canzian Federico, Hamby Stephen E, Hottenga Jouke-Jan, Jones Peter D, Jousilahti Pekka, Mägi Reedik, Medland Sarah E, Montgomery Grant W, Nyholt Dale R, Perola Markus, Pietiläinen Kirsi H, Salomaa Veikko, Sillanpää Elina, Suchiman H Eka, van Heemst Diana, Willemsen Gonneke, Agudo Antonio, Boeing Heiner, Boomsma Dorret I, Chirlaque Maria-Dolores, Fagherazzi Guy, Ferrari Pietro, Franks Paul, Gieger Christian, Eriksson Johan Gunnar, Gunter Marc, Hägg Sara, Hovatta Iiris, Imaz Liher, Kaprio Jaakko, Kaaks Rudolf, Key Timothy, Krogh Vittorio, Martin Nicholas G, Melander Olle, Metspalu Andres, Moreno Concha, Onland-Moret N Charlotte, Nilsson Peter, Ong Ken K, Overvad Kim, Palli Domenico, Panico Salvatore, Pedersen Nancy L, Penninx Brenda W J H, Quirós J Ramón, Jarvelin Marjo Riitta, Rodríguez-Barranco Miguel, Scott Robert A, Severi Gianluca, Slagboom P Eline, Spector Tim D, Tjonneland Anne, Trichopoulou Antonia, Tumino Rosario, Uitterlinden André G, van der Schouw Yvonne T, van Duijn Cornelia M, Weiderpass Elisabete, Denchi Eros Lazzerini, Matullo Giuseppe, Butterworth Adam S, Danesh John, Samani Nilesh J, Wareham Nicholas J, Nelson Christopher P, Langenberg Claudia, Codd Very |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescuing and cancer mutations. Blood 2024 9 . Fernanda Gutierrez-Rodrigues, Emma M Groarke, Natthakan Thongon, Juan Jose Rodriguez-Sevilla, Luiz Fernando Bazzo Catto, Marena Rebekka Niewisch, Ruba N Shalhoub, Lisa J McReynolds, Diego V Clé, Bhavisha A Patel, Xiaoyang Ma, Dalton Hironaka, Flavia S Donaires, Nina R Spitofsky, Barbara A Santana, Tsung-Po Lai, Lemlem Alemu, Sachiko Kajigaya, Ivana Darden, Weiyin Zhou, Paul V Browne, Subrata Paul, Justin Lack, David J Young, Courtney D DiNardo, Abraham Aviv, Feiyang Ma, Michel Michels de Oliveira, Ana Paula de Azambuja, Cynthia E Dunbar, Malgorzata Olszewska, Emmanuel Olivier, Eirini P Papapetrou, Neelam Giri, Blanche P Alter, Carmem M S Bonfim, Colin O Wu, Guillermo Garcia-Manero, Sharon A Savage, Neal S Young, Simona Colla, Rodrigo T Cala |
| Variant ranking pipeline for complex familial disorders. Scientific reports 2024 6 14 (1): 13599. Sneha Ralli, Tariq Vira, Carla Daniela Robles-Espinoza, David J Adams, Angela R Brooks-Wils |
| Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations and a High Burden of Germline POT1Alterations. Clinical cancer research : an official journal of the American Association for Cancer Research 2025 1 . Igor Odintsov, David J Papke, Suzanne George, Robert F Padera, Jason L Hornick, Stephanie E Siegmu |
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