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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 Hits 1 – 20 of 29 1 A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families Calvete, Oriol; García-Pavía, Pablo; Benitez-Buelga, Carlos; Carrillo, Jaime; Perona Abellón, Rosario; Esteller, Manel; Benítez, Javier. - : Nature Publishing Group, 2015 Abstract: This work is licensed under a Creative Commons Attribution 4.0 International License.-- et al. ; Cardiac angiosarcoma (CAS) is a rare malignant tumour whose genetic basis is unknown. Here we show, by whole-exome sequencing of a TP53-negative Li-Fraumeni-like (LFL) family including CAS cases, that a missense variant (p.R117C) in POT1 (protection of telomeres 1) gene is responsible for CAS. The same gene alteration is found in two other LFL families with CAS, supporting the causal effect of the identified mutation. We extend the analysis to TP53-negative LFL families with no CAS and find the same mutation in a breast AS family. The mutation is recently found once in 121,324 studied alleles in ExAC server but it is not described in any other database or found in 1,520 Spanish controls. In silico structural analysis suggests how the mutation disrupts POT1 structure. Functional and in vitro studies demonstrate that carriers of the mutation show reduced telomere-bound POT1 levels, abnormally long telomeres and increased telomere fragility. ; We are grateful to T. de Lange (The Rockefeller University) and K. Collins (The University of California) for providing POT1 and TPP1 plasmids, respectively. J.B.’s laboratory is partially funded by the Spanish Ministry of Health PI12/00070, the Spanish Ministry of Science and Innovation (INNPRONTA 2012) and the Spanish Research Network on Rare diseases (CIBERER). O.C. is granted by the CIBERER and C.B.-B. by the PI12/00070 supported by FEDER funds. P.G.-P. is partially supported by the Spanish Ministry of Health PI11/0699, PI12/01941 and RD12/0042/0066. M.A.B.’s laboratory is funded with the Spanish Ministry of Science and Innovation, projects SAF2008-05384 and 2007-A-200950 (TELOMARKER), European Research Council Advanced grant GA#232854, the Körber Foundation, Fundación Botín and Fundación Lilly. R.P.’ lab is partially funded by PI11/0949 Supported by FEDER funds. ; Peer Reviewed URL: https://doi.org/10.1038/ncomms9383 https://doi.org/10.13039/501100003751 https://doi.org/10.13039/501100004587 https://doi.org/10.13039/501100000781 https://doi.org/10.13039/501100004837 https://doi.org/10.13039/100005595 https://doi.org/10.13039/501100004076 https://doi.org/10.13039/501100006373 https://doi.org/10.13039/501100000780 http://hdl.handle.net/10261/124597 BASE Hide details 2 Nearby normal and luminous infrared galaxies with the SKA Pérez-Torres, Miguel A.; García-Burillo, S.; Alberdi, Antxón. - : Sociedad Española de Astronomía, 2015 BASE Show details 3 Interactions between tick and transmitted pathogens evolved to minimise competition through nested and coherent networks Estrada-Peña, Agustín; Fuente, José de la; Ostfeld, Richard S.. - : Nature Publishing Group, 2015 BASE Show details 4 SIMPLE: a Language for the Specification of Protocols, Similar to Natural Language De Jonge, Dave; Sierra, Carles. - 2015 BASE Show details 5 A vector representation of Fluid Construction Grammar using Holographic Reduced Representations Knight, Yana; Spranger, Michael; Steels, Luc. - 2015 BASE Show details 6 Loss of Tribbles pseudokinase-3 promotes Akt-driven tumorigenesis via FOXO inactivation Salazar, María; Pérez-Gómez, Eduardo; Flores, Juana María. - : Nature Publishing Group, 2015 BASE Show details 7 Enological characterization of Spanish Saccharomyces kudriavzevii strains, one of the closest relatives to parental strains of winemaking and brewing Saccharomyces cerevisiae × S. kudriavzevii hybrids Peris, David; Pérez Través, Laura; Belloch, Carmela. - : Elsevier, 2015 BASE Show details 8 Upward Refinement for Conceptual Blending in Description Logic — An ASP-based Approach and Case Study in EL++— Schorlemmer, Marco; Confalonieri, Roberto; Plaza, Enric. - : Association for the Advancement of Artificial Intelligence, 2015 BASE Show details 9 Usage-based Grammar Learning as Insight Problem Solving Garcia Casademont, Emília; Steels, Luc. - 2015 BASE Show details 10 Ambiguity and the origins of syntax Garcia Casademont, Emília; Steels, Luc. - : Walter de Gruyter, 2015 BASE Show details 11 Common genetic variants influence human subcortical brain structures. Hibar, Derrek P; Stein, Jason L; Renteria, Miguel E... In: ISSN: 0028-0836 ; EISSN: 1476-4679 ; Nature ; https://hal.archives-ouvertes.fr/hal-01196805 ; Nature, Nature Publishing Group, 2015, 520 (7546), pp.224-9. ⟨10.1038/nature14101⟩ (2015) BASE Show details 12 Exploring Spanish Health Social Media for detecting drug effects Moreno Schneider, Julian; Martínez Fernández, Paloma; Revert Arenaz, Ricardo. - : Springer Nature, 2015 BASE Show details 13 Random forest-based prediction of Parkinson's disease progression using acoustic, ASR and intelligibility features Zlotnik, Alexander; Montero Martínez, Juan Manuel; San Segundo Hernández, Rubén. - : International Speech Communication Association (ISCA), 2015 BASE Show details 14 Depression Awareness and Self-Management Through the Internet: Protocol for an Internationally Standardized Approach Arensman, Ella; Koburger, Nicole; Larkin, Celine. - : JMIR Publications, 2015 BASE Show details 15 Applying basic features from sentiment analysis on automatic irony detection Rosso, Paolo; Hernández Farías, Irazú; Benedí Ruiz, José Miguel. - : Springer International Publishing, 2015 BASE Show details 16 Translating without In-domain Corpus: Machine TranslationPost-Editing with Online Learning Techniques Lagarda Arroyo, Antonio Luís; Ortiz Martínez, Daniel; Alabau, V.. - : Elsevier, 2015 BASE Show details 17 An Empirical Analysis of Data Selection Techniques in Statistical Machine Translation ; Análisis empírico de técnicas de selección de datos en traducción automática estadística Chinea Ríos, Mara; Sanchis Trilles, Germán; Casacuberta Nolla, Francisco. - : Sociedad Española para el Procesamiento del Lenguaje Natural (SEPLN), 2015 BASE Show details 18 Developing CALL for heritage languages: The 7 Keys of the Dragon Revithiadou, Anthi; Kourtis-Kazoullis, Vasilia; Soukalopoulou, Maria. - : Universitat Politècnica de València, 2015 BASE Show details 19 TWIN: Personality-based Intelligent Recommender System Roshchina, Alexandra; Cardiff, John; Rosso, Paolo. - : IOS Press, 2015 BASE Show details 20 Contex-aware gestures for mixed-initiative text editings UIs Romero Gómez, Verónica; Vidal, Enrique; Toselli, Alejandro Héctor. - : Oxford University Press, 2015 BASE Show details Page: 1 2

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