Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
Jaad International
Goldstein, Alisa M AM; Qin, Richard R; Chu, Emily Y EY; Elder, David E DE; Massi, Daniela D; Adams, David J DJ; Harms, Paul W PW; Robles-Espinoza, Carla Daniela CD; Newton-Bishop, Julia A JA; Bishop, D Timothy DT; Harland, Mark M; Holland, Elizabeth A EA; Cust, Anne E AE; Schmid, Helen H; Mann, Graham J GJ; Puig, Susana S; Potrony, Miriam M; Alos, Llucia L; Nagore, Eduardo E; Millán-Esteban, David D; Hayward, Nicholas K NK; Broit, Natasa N; Palmer, Jane M JM; Nathan, Vaishnavi V; Berry, Elizabeth G EG; Astiazaran-Symonds, Esteban E; Yang, Xiaohong R XR; Tucker, Margaret A MA; Landi, Maria Teresa MT; Pfeiffer, Ruth M RM; Sargen, Michael R MR
Publication Date: 2023-06
Variant appearance in text: TERT: Ala1062Thr; rs35719940
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: TERT: 3184G>A; Ala1062Thr
Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.
Frontiers In Oncology
Fiesco-Roa, Moisés Ó MÓ; García-de Teresa, Benilde B; Leal-Anaya, Paula P; van 't Hek, Renée R; Wegman-Ostrosky, Talia T; Frías, Sara S; Rodríguez, Alfredo A
Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.
Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Germline mutations among Polish patients with acute myeloid leukemia.
Hereditary Cancer In Clinical Practice
Bąk, Aneta A; Skonieczka, Katarzyna K; Jaśkowiec, Anna A; Junkiert-Czarnecka, Anna A; Heise, Marta M; Pilarska-Deltow, Maria M; Potoczek, Stanisław S; Czyżewska, Maria M; Haus, Olga O
Publication Date: 2021-10-12
Variant appearance in text: TERT: 3184G>A; Ala1062Thr; rs35719940
Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis.
Diagnostics (Basel, Switzerland)
Baratella, Elisa E; Ruaro, Barbara B; Giudici, Fabiola F; Wade, Barbara B; Santagiuliana, Mario M; Salton, Francesco F; Confalonieri, Paola P; Simbolo, Michele M; Scarpa, Aldo A; Tollot, Saverio S; Marrocchio, Cristina C; Cova, Maria Assunta MA; Confalonieri, Marco M
Publication Date: 2021-04-23
Variant appearance in text: TERT: A1062T; rs35719940
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: TERT: 3184G>A; A1062T; rs35719940
Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma.
Cancers
Váraljai, Renáta R; Horn, Susanne S; Sucker, Antje A; Piercianek, Daniela D; Schmitt, Verena V; Carpinteiro, Alexander A; Becker, Katrin Anne KA; Reifenberger, Julia J; Roesch, Alexander A; Felsberg, Joerg J; Reifenberger, Guido G; Sure, Ulrich U; Schadendorf, Dirk D; Helfrich, Iris I
Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome.
Leukemia
Tomlinson, Christopher G CG; Sasa, Ghadir G; Aubert, Geraldine G; Martin-Giacalone, Bailey B; Plon, Sharon E SE; Bryan, Tracy M TM; Bertuch, Alison A AA; Gramatges, Maria M MM
Publication Date: 2021-01
Variant appearance in text: TERT: A1062T; rs35719940
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
The Spectrum of Hepatic Involvement in Patients With Telomere Disease.
Hepatology (Baltimore, Md.)
Kapuria, Devika D; Ben-Yakov, Gil G; Ortolano, Rebecca R; Cho, Min Ho MH; Kalchiem-Dekel, Or O; Takyar, Varun V; Lingala, Shilpa S; Gara, Naveen N; Tana, Michele M; Kim, Yun Ju YJ; Kleiner, David E DE; Young, Neal S NS; Townsley, Danielle M DM; Koh, Christopher C; Heller, Theo T
Publication Date: 2019-06
Variant appearance in text: TERT: 3184G>A; Ala1062Thr
Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.
Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.
Human Molecular Genetics
Qiao, Dandi D; Ameli, Asher A; Prokopenko, Dmitry D; Chen, Han H; Kho, Alvin T AT; Parker, Margaret M MM; Morrow, Jarrett J; Hobbs, Brian D BD; Liu, Yanhong Y; Beaty, Terri H TH; Crapo, James D JD; Barnes, Kathleen C KC; Nickerson, Deborah A DA; Bamshad, Michael M; Hersh, Craig P CP; Lomas, David A DA; Agusti, Alvar A; Make, Barry J BJ; Calverley, Peter M A PMA; Donner, Claudio F CF; Wouters, Emiel F EF; Vestbo, Jørgen J; Paré, Peter D PD; Levy, Robert D RD; Rennard, Stephen I SI; Tal-Singer, Ruth R; Spitz, Margaret R MR; Sharma, Amitabh A; Ruczinski, Ingo I; Lange, Christoph C; Silverman, Edwin K EK; Cho, Michael H MH
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
European Journal Of Human Genetics : Ejhg
Norberg, Anna A; Rosén, Anna A; Raaschou-Jensen, Klas K; Kjeldsen, Lars L; Moilanen, Jukka S JS; Paulsson-Karlsson, Ylva Y; Baliakas, Panagiotis P; Lohi, Olli O; Ahmed, Aymen A; Kittang, Astrid O AO; Larsson, Pär P; Roos, Göran G; Degerman, Sofie S; Hultdin, Magnus M
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Blood Advances
Marsh, Judith C W JCW; Gutierrez-Rodrigues, Fernanda F; Cooper, James J; Jiang, Jie J; Gandhi, Shreyans S; Kajigaya, Sachiko S; Feng, Xingmin X; Ibanez, Maria Del Pilar F MDPF; Donaires, Flávia S FS; Lopes da Silva, João P JP; Li, Zejuan Z; Das, Soma S; Ibanez, Maria M; Smith, Alexander E AE; Lea, Nicholas N; Best, Steven S; Ireland, Robin R; Kulasekararaj, Austin G AG; McLornan, Donal P DP; Pagliuca, Anthony A; Callebaut, Isabelle I; Young, Neal S NS; Calado, Rodrigo T RT; Townsley, Danielle M DM; Mufti, Ghulam J GJ
Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma.
Plos One
Donaires, Flávia S FS; Scatena, Natália F NF; Alves-Paiva, Raquel M RM; Podlevsky, Joshua D JD; Logeswaran, Dhenugen D; Santana, Barbara A BA; Teixeira, Andreza C AC; Chen, Julian J-L JJ; Calado, Rodrigo T RT; Martinelli, Ana L C ALC
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: TERT: A1062T; rs35719940
Integrated genomic analyses reveal frequent TERT aberrations in acral melanoma.
Genome Research
Liang, Winnie S WS; Hendricks, William W; Kiefer, Jeffrey J; Schmidt, Jessica J; Sekar, Shobana S; Carpten, John J; Craig, David W DW; Adkins, Jonathan J; Cuyugan, Lori L; Manojlovic, Zarko Z; Halperin, Rebecca F RF; Helland, Adrienne A; Nasser, Sara S; Legendre, Christophe C; Hurley, Laurence H LH; Sivaprakasam, Karthigayini K; Johnson, Douglas B DB; Crandall, Holly H; Busam, Klaus J KJ; Zismann, Victoria V; Deluca, Valerie V; Lee, Jeeyun J; Sekulic, Aleksandar A; Ariyan, Charlotte E CE; Sosman, Jeffrey J; Trent, Jeffrey J
Townsley, Danielle M DM; Dumitriu, Bogdan B; Liu, Delong D; Biancotto, Angélique A; Weinstein, Barbara B; Chen, Christina C; Hardy, Nathan N; Mihalek, Andrew D AD; Lingala, Shilpa S; Kim, Yun Ju YJ; Yao, Jianhua J; Jones, Elizabeth E; Gochuico, Bernadette R BR; Heller, Theo T; Wu, Colin O CO; Calado, Rodrigo T RT; Scheinberg, Phillip P; Young, Neal S NS
Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis.
Oncotarget
Mosrati, Mohamed Ali MA; Willander, Kerstin K; Falk, Ingrid Jakobsen IJ; Hermanson, Monica M; Höglund, Martin M; Stockelberg, Dick D; Wei, Yuan Y; Lotfi, Kourosh K; Söderkvist, Peter P
Publication Date: 2015-09-22
Variant appearance in text: TERT: A1062T; rs35719940
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24
Variant appearance in text: TERT: 3184G>A; A1062T; rs35719940
Short telomeres, telomeropathy, and subclinical extrapulmonary organ damage in patients with interstitial lung disease.
Chest
George, Gautam G; Rosas, Ivan O IO; Cui, Ye Y; McKane, Caitlin C; Hunninghake, Gary M GM; Camp, Phillip C PC; Raby, Benjamin A BA; Goldberg, Hilary J HJ; El-Chemaly, Souheil S
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Telomerase variant A279T induces telomere dysfunction and inhibits non-canonical telomerase activity in esophageal carcinomas.
Plos One
Zhang, Yuwei Y; Calado, Rodrigo R; Rao, Mahadev M; Hong, Julie A JA; Meeker, Alan K AK; Dumitriu, Bogdan B; Atay, Scott S; McCormick, Peter J PJ; Garfield, Susan H SH; Wangsa, Danny D; Padilla-Nash, Hesed M HM; Burkett, Sandra S; Zhang, Mary M; Kunst, Tricia F TF; Peterson, Nathan R NR; Xi, Sichuan S; Inchauste, Suzanne S; Altorki, Nasser K NK; Casson, Alan G AG; Beer, David G DG; Harris, Curtis C CC; Ried, Thomas T; Young, Neal S NS; Schrump, David S DS
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Dose-adjusted EPOCH-rituximab therapy in primary mediastinal B-cell lymphoma.
The New England Journal Of Medicine
Dunleavy, Kieron K; Pittaluga, Stefania S; Maeda, Lauren S LS; Advani, Ranjana R; Chen, Clara C CC; Hessler, Julie J; Steinberg, Seth M SM; Grant, Cliona C; Wright, George G; Varma, Gaurav G; Staudt, Louis M LM; Jaffe, Elaine S ES; Wilson, Wyndham H WH
Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia.
Leukemia
Aalbers, A M AM; Calado, R T RT; Young, N S NS; Zwaan, C M CM; Wu, C C; Kajigaya, S S; Coenen, E A EA; Baruchel, A A; Geleijns, K K; de Haas, V V; Kaspers, G J L GJ; Kuijpers, T W TW; Reinhardt, D D; Trka, J J; Zimmermann, M M; Pieters, R R; van der Velden, V H J VH; van den Heuvel-Eibrink, M M MM
A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.
Respiratory Research
Fernandez, Bridget A BA; Fox, George G; Bhatia, Rick R; Sala, Eric E; Noble, Barbara B; Denic, Nash N; Fernandez, Dzintra D; Duguid, Nigel N; Dohey, Amanda A; Kamel, Fady F; Edwards, Laura L; Mahoney, Krista K; Stuckless, Susan S; Parfrey, Patrick S PS; Woods, Michael O MO
Publication Date: 2012-08-01
Variant appearance in text: TERT: 3184G>A; Ala1062Thr; rs35719940
Rollison, Dana E DE; Epling-Burnette, P K PK; Park, Jong Y JY; Lee, Ji-Hyun JH; Park, Hyun H; Jonathan, Kristen K; Cole, Ashley L AL; Painter, Jeffrey S JS; Guerrier, Mayenha M; Meléndez-Santiago, Johana J; Fulp, William W; Komrokji, Rami R; Lancet, Jeffrey J; List, Alan F AF
Natural history of pulmonary fibrosis in two subjects with the same telomerase mutation.
Chest
El-Chemaly, Souheil S; Ziegler, Shira G SG; Calado, Rodrigo T RT; Wilson, Kirkland A KA; Wu, Hai Ping HP; Haughey, Mary M; Peterson, Nathan R NR; Young, Neal S NS; Gahl, William A WA; Moss, Joel J; Gochuico, Bernadette R BR
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Calado, Rodrigo T RT; Regal, Joshua A JA; Hills, Mark M; Yewdell, William T WT; Dalmazzo, Leandro F LF; Zago, Marco A MA; Lansdorp, Peter M PM; Hogge, Donna D; Chanock, Stephen J SJ; Estey, Elihu H EH; Falcão, Roberto P RP; Young, Neal S NS
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.
Blood
Du, Hong-Yan HY; Pumbo, Elena E; Ivanovich, Jennifer J; An, Ping P; Maziarz, Richard T RT; Reiss, Ulrike M UM; Chirnomas, Deborah D; Shimamura, Akiko A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Goyal, Rakesh K RK; Goldman, Frederick F; Wilson, David B DB; Mason, Philip J PJ; Bessler, Monica M
Mutations in the SBDS gene in acquired aplastic anemia.
Blood
Calado, Rodrigo T RT; Graf, Solomon A SA; Wilkerson, Keisha L KL; Kajigaya, Sachiko S; Ancliff, Philip J PJ; Dror, Yigal Y; Chanock, Stephen J SJ; Lansdorp, Peter M PM; Young, Neal S NS