1. Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

    Genetics in Medicine 18(4):378 (2016) PMID 26181491 PMCID PMC4823641

    Autism spectrum disorders are associated with defects in social response and communication that often occur in the context of intellectual disability. Rett syndrome is one example in which epilepsy, motor impairment, and motor disturbance may co-occur. Mutations in histone demethylases are known...
  2. Epigenomic analysis detects aberrant super-enhancer DNA methylation in human cancer.

    Genome Biology 17(1):11 (2016) PMID 26813288 PMCID PMC4728783

    One of the hallmarks of cancer is the disruption of gene expression patterns. Many molecular lesions contribute to this phenotype, and the importance of aberrant DNA methylation profiles is increasingly recognized. Much of the research effort in this area has examined proximal promoter regions a...
  3. Endobronchial valve placement for intractable airleaks.

    Journal of Cardiothoracic Surgery 10 Suppl 1:A271 (2015) PMID 26739757 PMCID PMC4695768

  4. Aberrant DNA methylation in non-small cell lung cancer-associated fibroblasts.

    Carcinogenesis 36(12):1453 (2015) PMID 26449251 PMCID PMC4662832

    Epigenetic changes through altered DNA methylation have been implicated in critical aspects of tumor progression, and have been extensively studied in a variety of cancer types. In contrast, our current knowledge of the aberrant genomic DNA methylation in tumor-associated fibroblasts (TAFs) or o...
  5. KAT6B Is a Tumor Suppressor Histone H3 Lysine 23 Acetyltransferase Undergoing Genomic Loss in Small Cell Lung Cancer.

    Cancer Research 75(18):3936 (2015) PMID 26208904

    Recent efforts to sequence human cancer genomes have highlighted that point mutations in genes involved in the epigenetic setting occur in tumor cells. Small cell lung cancer (SCLC) is an aggressive tumor with poor prognosis, where little is known about the genetic events related to its developm...
  6. DNA methylation dynamics in human carotid plaques after cerebrovascular events.

    Arteriosclerosis, Thrombosis, and Vascular Biology 35(8):1835 (2015) PMID 26088578

    To understand whether cerebrovascular events, a major complication of atherosclerosis, are associated with any specific DNA methylation changes in the carotid plaque. We profiled the DNA methylomes of human symptomatic carotid plaques obtained from patients who had cerebrovascular events (n=19) ...
  7. A DNA methylation-based definition of biologically distinct breast cancer subtypes.

    Molecular Oncology 9(3):555 (2015) PMID 25468711

    In cancer, epigenetic states are deregulated and thought to be of significance in cancer development and progression. We explored DNA methylation-based signatures in association with breast cancer subtypes to assess their impact on clinical presentation and patient prognosis. DNA methylation was...
  8. Nephron-sparing surgery in renal cell carcinoma: current perspectives on technical issues.

    Current Urology Reports 16(2):6 (2015) PMID 25633842

    Surgical resection remains the standard treatment for renal cell carcinoma. Although historically the concept of wide excision of the affected kidney dictated surgical thinking for more than half a century, a better understanding of the biology of this tumor, standardized staging, and changing p...
  9. The DNA methylation drift of the atherosclerotic aorta increases with lesion progression.

    BMC Medical Genomics 8(1):7 (2015) PMID 25881171 PMCID PMC4353677

    Atherosclerosis severity-independent alterations in DNA methylation, a reversible and highly regulated DNA modification, have been detected in aortic atheromas, thus supporting the hypothesis that epigenetic mechanisms participate in the pathogenesis of atherosclerosis. One yet unaddressed issue...
  10. Bioinformatics and Moonlighting Proteins.

    Frontiers in bioengineering and biotechnology 3:90 (2015) PMID 26157797 PMCID PMC4478894

    Multitasking or moonlighting is the capability of some proteins to execute two or more biochemical functions. Usually, moonlighting proteins are experimentally revealed by serendipity. For this reason, it would be helpful that Bioinformatics could predict this multifunctionality, especially beca...
  11. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.
    Ignacio Blanco, Karoline Kuchenbaecker, Daniel Cuadras, Xianshu Wang, Daniel Barrowdale, Gorka Ruiz de Garibay, Pablo Librado, Alejandro Sánchez-Gracia, Julio Rozas, Núria Bonifaci, Lesley McGuffog, Vernon S Pankratz, Abul Islam, Francesca Mateo, Antoni Berenguer, Anna Petit, Isabel Català, Joan Brunet, Lidia Feliubadaló, Eva Tornero, Javier Benítez, Ana Osorio, Teresa Ramón y Cajal, Heli Nevanlinna, Kristiina Aittomäki, Banu K Arun, Amanda E Toland, Beth Y Karlan, Christine Walsh, Jenny Lester, Mark H Greene, Phuong L Mai, Robert L Nussbaum, Irene L Andrulis, Susan M Domchek, Katherine L Nathanson, Timothy Rebbeck, Rosa Barkardottir, Anna Jakubowska, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska-Bieniek, Kathleen Claes, Tom Van Maerken, Orland Díez, Thomas V Hansen, Lars Jønson, Anne-Marie Gerdes, Bent Ejlertsen, Miguel de la Hoya, Trinidad Caldés, Alison M Dunning, Clare Oliver, Elena Fineberg, Margaret Cook, Susan Peock, Emma McCann, Alex Murray, Chris Jacobs, Gabriella Pichert, Fiona Lalloo, Carol Chu, Huw Dorkins, Joan Paterson, Kai-Ren Ong, Manuel R Teixeira, Frans B L Hogervorst, Annemarie van der Hout, Caroline Seynaeve, Rob B van der Luijt, Marjolijn J Ligtenberg, Peter Devilee, Juul T Wijnen, Matti A Rookus, Hanne E J Meijers-Heijboer, Marinus J Blok, Ans M W van den Ouweland, Cora M Aalfs, Gustavo C Rodriguez, Kelly-Anne A Phillips, Marion Piedmonte, Stacy R Nerenstone, Victoria L Bae-Jump, David M O'Malley, Elena S Ratner, Rita K Schmutzler, Barbara Wappenschmidt, Kerstin Rhiem, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Hansjoerg J Plendl, Dieter Niederacher, Christian Sutter, Shan Wang-Gohrke, Doris Steinemann, Sabine Preisler-Adams, Karin Kast, Raymonda Varon-Mateeva, Andrea Gehrig, Anders Bojesen, Inge Sokilde Pedersen, Lone Sunde, Uffe Birk Jensen, Mads Thomassen, Torben A Kruse, Lenka Foretova, Paolo Peterlongo, Loris Bernard, Bernard Peissel, Giulietta Scuvera, Siranoush Manoukian, Paolo Radice, Laura Ottini, Marco Montagna, Simona Agata, Christine Maugard, Jacques Simard, Penny Soucy, Andreas Berger, Anneliese Fink-Retter, Christian F Singer, Christine Rappaport, Daphne Geschwantler-Kaulich, Muy-Kheng Tea, Georg Pfeiler, Esther M John, Alex Miron, Susan L Neuhausen, Mary Beth Terry, Wendy K Chung, Mary B Daly, David E Goldgar, Ramunas Janavicius, Cecilia M Dorfling, Elisabeth J van Rensburg, Florentia Fostira, Irene Konstantopoulou, Judy Garber, Andrew K Godwin, Edith Olah, Steven A Narod, Gad Rennert, Shani Shimon Paluch, Yael Laitman, Eitan Friedman, Annelie Liljegren, Johanna Rantala, Marie Stenmark-Askmalm, Niklas Loman, Evgeny N Imyanitov, Ute Hamann, Amanda B Spurdle, Sue Healey, Jeffrey N Weitzel, Josef Herzog, David Margileth, Chiara Gorrini, Manel Esteller, Antonio Gómez, Sergi Sayols, Enrique Vidal, Holger Heyn, Dominique Stoppa-Lyonnet, Melanie Léoné, Laure Barjhoux, Marion Fassy-Colcombet, Antoine de Pauw, Christine Lasset, Sandra Fert Ferrer, Laurent Castera, Pascaline Berthet, François Cornelis, Yves-Jean Bignon, Francesca Damiola, Sylvie Mazoyer, Olga M Sinilnikova, Christopher A Maxwell, Joseph Vijai, Mark Robson, Noah Kauff, Marina J Corines, Danylko Villano, Julie Cunningham, Adam Lee, Noralane Lindor, Conxi Lázaro, Douglas F Easton, Kenneth Offit, Georgia Chenevix-Trench, Fergus J Couch, Antonis C Antoniou, and Miguel Angel Pujana

    PLoS ONE 10(4):e0120020 (2015) PMID 25830658 PMCID PMC4382299

    While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between...
  12. Can bioinformatics help in the identification of moonlighting proteins?

    Biochemical Society Transactions 42(6):1692 (2014) PMID 25399591

    Protein multitasking or moonlighting is the capability of certain proteins to execute two or more unique biological functions. This ability to perform moonlighting functions helps us to understand one of the ways used by cells to perform many complex functions with a limited number of genes. Usu...
  13. DNA methylation map of human atherosclerosis.

    Circulation: Cardiovascular Genetics 7(5):692 (2014) PMID 25091541

    Epigenetic alterations may contribute to the development of atherosclerosis. In particular, DNA methylation, a reversible and highly regulated DNA modification, could influence disease onset and progression because it functions as an effector for environmental influences, including diet and life...
  14. A comprehensive DNA methylation profile of epithelial-to-mesenchymal transition.

    Cancer Research 74(19):5608 (2014) PMID 25106427

    Epithelial-to-mesenchymal transition (EMT) is a plastic process in which fully differentiated epithelial cells are converted into poorly differentiated, migratory and invasive mesenchymal cells, and it has been related to the metastasis potential of tumors. This is a reversible process and cells...
  15. Carcinoma adenoide quístico parotídeo: soluciones estéticas y funcionales

    Revista Española de Cirugía Oral y Maxilofacial 36(3):124 (2014)

    El carcinoma adenoide quístico supone el 10-30% de las neoplasias malignas parotídeas, su tratamiento se basa en una parotidectomía que incluya el tumor con un adecuado margen de seguridad y la radioterapia postoperatoria dado que permite mejorar el control locorregional de la enfermed...
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  16. The causes of the high energy intensity of the Kazakh economy: A characterization of its energy system

    Energy 71:556 (2014)

    The primary energy intensity of Kazakhstan is among the highest in the world. The aim of this paper is to explore, in a quantitative way, the reasons for this condition, and to highlight the opportunities for improvement. To do so, we have developed a detailed ‘bottom-up’ model of the ...
  17. The future of energy in Uzbekistan

    Energy (2014)

    The Central Asia republic of Uzbekistan is well endowed with energy resources, yet its energy system presents some critical problems in terms of sustainability, security and affordability. Uzbekistan is the most populated country in the region, and therefore population growth, economic...
  18. Regulation of pri-miRNA processing by a long noncoding RNA transcribed from an ultraconserved region.

    Molecular Cell 55(1):138 (2014) PMID 24910097

    Noncoding RNAs (ncRNAs) control cellular programs by affecting protein-coding genes, but evidence increasingly points to their involvement in a network of ncRNA-ncRNA interactions. Here, we show that a long ncRNA, Uc.283+A, controls pri-miRNA processing. Regulation requires complementarity betwe...
  19. Many emergency department patients with severe sepsis and septic shock do not meet diagnostic criteria within 3 hours of arrival.

    Annals of Emergency Medicine 64(1):48 (2014) PMID 24680548

    Proposed national performance measures for severe sepsis or septic shock include interventions within 3 hours of emergency department (ED) arrival rather than from time of first meeting diagnostic criteria. We aim to determine the percentage of ED patients who first meet criteria greater than 3 ...
  20. Validation of DNA methylation profiling in formalin-fixed paraffin-embedded samples using the Infinium HumanMethylation450 Microarray.

    Epigenetics 9(6):829 (2014) PMID 24732293 PMCID PMC4065180

    A formalin-fixed paraffin-embedded (FFPE) sample usually yields highly degraded DNA, which limits the use of techniques requiring high-quality DNA, such as Infinium Methylation microarrays. To overcome this restriction, we have applied an FFPE restoration procedure consisting of DNA repair and l...