ALBERT

Beschreibung: Surveys have shown that super-Earth and Neptune-mass exoplanets are more frequent than gas giants around low-mass stars, as predicted by the core accretion theory of planet formation. We report the discovery of a giant planet around the very-low-mass star GJ 3512, as determined by optical and near-infrared radial-velocity observations. The planet has a minimum mass of 0.46 Jupiter masses, very high for such a small host star, and an eccentric 204-day orbit. Dynamical models show that the high eccentricity is most likely due to planet-planet interactions. We use simulations to demonstrate that the GJ 3512 planetary system challenges generally accepted formation theories, and that it puts constraints on the planet accretion and migration rates. Disk instabilities may be more efficient in forming planets than previously thought.

Beschreibung: Chronic lymphocytic leukaemia (CLL), the most frequent leukaemia in adults in Western countries, is a heterogeneous disease with variable clinical presentation and evolution. Two major molecular subtypes can be distinguished, characterized respectively by a high or low number of somatic hypermutations in the variable region of immunoglobulin genes. The molecular changes leading to the pathogenesis of the disease are still poorly understood. Here we performed whole-genome sequencing of four cases of CLL and identified 46 somatic mutations that potentially affect gene function. Further analysis of these mutations in 363 patients with CLL identified four genes that are recurrently mutated: notch 1 (NOTCH1), exportin 1 (XPO1), myeloid differentiation primary response gene 88 (MYD88) and kelch-like 6 (KLHL6). Mutations in MYD88 and KLHL6 are predominant in cases of CLL with mutated immunoglobulin genes, whereas NOTCH1 and XPO1 mutations are mainly detected in patients with unmutated immunoglobulins. The patterns of somatic mutation, supported by functional and clinical analyses, strongly indicate that the recurrent NOTCH1, MYD88 and XPO1 mutations are oncogenic changes that contribute to the clinical evolution of the disease. To our knowledge, this is the first comprehensive analysis of CLL combining whole-genome sequencing with clinical characteristics and clinical outcomes. It highlights the usefulness of this approach for the identification of clinically relevant mutations in cancer.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322590/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322590/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Puente, Xose S -- Pinyol, Magda -- Quesada, Victor -- Conde, Laura -- Ordonez, Gonzalo R -- Villamor, Neus -- Escaramis, Georgia -- Jares, Pedro -- Bea, Silvia -- Gonzalez-Diaz, Marcos -- Bassaganyas, Laia -- Baumann, Tycho -- Juan, Manel -- Lopez-Guerra, Monica -- Colomer, Dolors -- Tubio, Jose M C -- Lopez, Cristina -- Navarro, Alba -- Tornador, Cristian -- Aymerich, Marta -- Rozman, Maria -- Hernandez, Jesus M -- Puente, Diana A -- Freije, Jose M P -- Velasco, Gloria -- Gutierrez-Fernandez, Ana -- Costa, Dolors -- Carrio, Anna -- Guijarro, Sara -- Enjuanes, Anna -- Hernandez, Lluis -- Yague, Jordi -- Nicolas, Pilar -- Romeo-Casabona, Carlos M -- Himmelbauer, Heinz -- Castillo, Ester -- Dohm, Juliane C -- de Sanjose, Silvia -- Piris, Miguel A -- de Alava, Enrique -- San Miguel, Jesus -- Royo, Romina -- Gelpi, Josep L -- Torrents, David -- Orozco, Modesto -- Pisano, David G -- Valencia, Alfonso -- Guigo, Roderic -- Bayes, Monica -- Heath, Simon -- Gut, Marta -- Klatt, Peter -- Marshall, John -- Raine, Keiran -- Stebbings, Lucy A -- Futreal, P Andrew -- Stratton, Michael R -- Campbell, Peter J -- Gut, Ivo -- Lopez-Guillermo, Armando -- Estivill, Xavier -- Montserrat, Emili -- Lopez-Otin, Carlos -- Campo, Elias -- 088340/Wellcome Trust/United Kingdom -- 093867/Wellcome Trust/United Kingdom -- England -- Nature. 2011 Jun 5;475(7354):101-5. doi: 10.1038/nature10113.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Departamento de Bioquimica y Biologia Molecular, Instituto Universitario de Oncologia, Universidad de Oviedo, 33006 Oviedo, Spain.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21642962" target="_blank"〉PubMed〈/a〉

Beschreibung: Supermassive black holes with masses of millions to billions of solar masses are commonly found in the centers of galaxies. Astronomers seek to image jet formation using radio interferometry but still suffer from insufficient angular resolution. An alternative method to resolve small structures is to measure the time variability of their emission. Here we report on gamma-ray observations of the radio galaxy IC 310 obtained with the MAGIC (Major Atmospheric Gamma-ray Imaging Cherenkov) telescopes, revealing variability with doubling time scales faster than 4.8 min. Causality constrains the size of the emission region to be smaller than 20% of the gravitational radius of its central black hole. We suggest that the emission is associated with pulsar-like particle acceleration by the electric field across a magnetospheric gap at the base of the radio jet.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Aleksic, J -- Ansoldi, S -- Antonelli, L A -- Antoranz, P -- Babic, A -- Bangale, P -- Barrio, J A -- Becerra Gonzalez, J -- Bednarek, W -- Bernardini, E -- Biasuzzi, B -- Biland, A -- Blanch, O -- Bonnefoy, S -- Bonnoli, G -- Borracci, F -- Bretz, T -- Carmona, E -- Carosi, A -- Colin, P -- Colombo, E -- Contreras, J L -- Cortina, J -- Covino, S -- Da Vela, P -- Dazzi, F -- De Angelis, A -- De Caneva, G -- De Lotto, B -- de Ona Wilhelmi, E -- Delgado Mendez, C -- Dominis Prester, D -- Dorner, D -- Doro, M -- Einecke, S -- Eisenacher, D -- Elsaesser, D -- Fonseca, M V -- Font, L -- Frantzen, K -- Fruck, C -- Galindo, D -- Garcia Lopez, R J -- Garczarczyk, M -- Garrido Terrats, D -- Gaug, M -- Godinovic, N -- Gonzalez Munoz, A -- Gozzini, S R -- Hadasch, D -- Hanabata, Y -- Hayashida, M -- Herrera, J -- Hildebrand, D -- Hose, J -- Hrupec, D -- Idec, W -- Kadenius, V -- Kellermann, H -- Kodani, K -- Konno, Y -- Krause, J -- Kubo, H -- Kushida, J -- La Barbera, A -- Lelas, D -- Lewandowska, N -- Lindfors, E -- Lombardi, S -- Longo, F -- Lopez, M -- Lopez-Coto, R -- Lopez-Oramas, A -- Lorenz, E -- Lozano, I -- Makariev, M -- Mallot, K -- Maneva, G -- Mankuzhiyil, N -- Mannheim, K -- Maraschi, L -- Marcote, B -- Mariotti, M -- Martinez, M -- Mazin, D -- Menzel, U -- Miranda, J M -- Mirzoyan, R -- Moralejo, A -- Munar-Adrover, P -- Nakajima, D -- Niedzwiecki, A -- Nilsson, K -- Nishijima, K -- Noda, K -- Orito, R -- Overkemping, A -- Paiano, S -- Palatiello, M -- Paneque, D -- Paoletti, R -- Paredes, J M -- Paredes-Fortuny, X -- Persic, M -- Poutanen, J -- Prada Moroni, P G -- Prandini, E -- Puljak, I -- Reinthal, R -- Rhode, W -- Ribo, M -- Rico, J -- Rodriguez Garcia, J -- Rugamer, S -- Saito, T -- Saito, K -- Satalecka, K -- Scalzotto, V -- Scapin, V -- Schultz, C -- Schweizer, T -- Shore, S N -- Sillanpaa, A -- Sitarek, J -- Snidaric, I -- Sobczynska, D -- Spanier, F -- Stamatescu, V -- Stamerra, A -- Steinbring, T -- Storz, J -- Strzys, M -- Takalo, L -- Takami, H -- Tavecchio, F -- Temnikov, P -- Terzic, T -- Tescaro, D -- Teshima, M -- Thaele, J -- Tibolla, O -- Torres, D F -- Toyama, T -- Treves, A -- Uellenbeck, M -- Vogler, P -- Zanin, R -- Kadler, M -- Schulz, R -- Ros, E -- Bach, U -- Krauss, F -- Wilms, J -- New York, N.Y. -- Science. 2014 Nov 28;346(6213):1080-4. doi: 10.1126/science.1256183. Epub 2014 Nov 6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Institut de Fisica d'Altes Energies, Campus UAB, E-08193 Bellaterra, Spain. ; Universita di Udine and Istituto Nazionale di Fisica Nucleare (INFN) Trieste, I-33100 Udine, Italy, and Istituto Nazionale di Astrofisica (INAF)-Trieste, I-34127 Trieste, Italy. ; INAF National Institute for Astrophysics, I-00136 Rome, Italy. ; Universita di Siena and INFN Pisa, I-53100 Siena, Italy. ; Croatian MAGIC Consortium, Rudjer Boskovic Institute, University of Rijeka and University of Split, HR-10000 Zagreb, Croatia. ; Max-Planck-Institut fur Physik, D-80805 Munchen, Germany. ; Universidad Complutense, E-28040 Madrid, Spain. ; Instituto de Astrofisica de Canarias, E-38200 La Laguna, Tenerife, Spain. Present address: NASA Goddard Space Flight Center, Greenbelt, MD 20771, USA, and Department of Physics and Department of Astronomy, University of Maryland, College Park, MD 20742, USA. ; University of Lodz', PL-90236 Lodz, Poland. ; Deutsches Elektronen-Synchrotron, D-15738 Zeuthen, Germany. ; ETH Zurich, CH-8093 Zurich, Switzerland. ; Universitat Wurzburg, D-97074 Wurzburg, Germany. Present address: Ecole Polytechnique Federale de Lausanne (EPFL), Lausanne, Switzerland. ; Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas, E-28040 Madrid, Spain. ; Instituto de Astrofisica de Canarias, E-38200 La Laguna, Tenerife, Spain. ; Institute of Space Sciences, E-08193 Barcelona, Spain. ; Universitat Wurzburg, D-97074 Wurzburg, Germany. ; Universita di Padova and INFN, I-35131 Padova, Italy. ; Technische Universitat Dortmund, D-44221 Dortmund, Germany. ; Universitat Wurzburg, D-97074 Wurzburg, Germany. deisenacher@astro.uni-wuerzburg.de jsitarek@ifae.es mannheim@astro.uni-wuerzburg.de. ; Unitat de Fisica de les Radiacions, Departament de Fisica, and Centro de Estudios e Investigacion Espaciales-Institut d'Estudis Espacials de Catalunya, Universitat Autonoma de Barcelona, E-08193 Bellaterra, Spain. ; Universitat de Barcelona, Institut de Ciencies del Cosmos, Institut d'Estudis Espacials de Catalunya-Universitat de Barcelona, E-08028 Barcelona, Spain. ; Institute of Space Sciences, E-08193 Barcelona, Spain. Present address: Institut fur Astro- und Teilchenphysik, Leopold-Franzens-Universitat Innsbruck, A-6020 Innsbruck, Austria. ; Japanese MAGIC Consortium, Division of Physics and Astronomy, Kyoto University, Japan. ; Finnish MAGIC Consortium, Tuorla Observatory, University of Turku and Department of Physics, University of Oulu, Finland. ; Finnish MAGIC Consortium, Tuorla Observatory, University of Turku and Department of Physics, University of Oulu, Finland. Present address: Finnish Centre for Astronomy with ESO (FINCA), Turku, Finland. ; Deceased. ; Institute for Nuclear Research and Nuclear Energy, BG-1784 Sofia, Bulgaria. ; Universita di Udine and Istituto Nazionale di Fisica Nucleare (INFN) Trieste, I-33100 Udine, Italy, and Istituto Nazionale di Astrofisica (INAF)-Trieste, I-34127 Trieste, Italy. Present address: Astrophysics Science Division, Bhabha Atomic Research Centre, Mumbai 400085, India. ; Universita di Pisa and INFN Pisa, I-56126 Pisa, Italy. ; Institut de Fisica d'Altes Energies, Campus UAB, E-08193 Bellaterra, Spain. deisenacher@astro.uni-wuerzburg.de jsitarek@ifae.es mannheim@astro.uni-wuerzburg.de. ; Institut de Fisica d'Altes Energies, Campus UAB, E-08193 Bellaterra, Spain. Present address: School of Chemistry and Physics, University of Adelaide, Adelaide 5005, Australia. ; Max-Planck-Institut fur Physik, D-80805 Munchen, Germany. Japanese MAGIC Consortium, Division of Physics and Astronomy, Kyoto University, Japan. ; ICREA and Institute of Space Sciences, E-08193 Barcelona, Spain. ; Universita dell'Insubria and INFN Milano Bicocca, Como, I-22100 Como, Italy. ; Universitat Wurzburg, D-97074 Wurzburg, Germany. Dr. Remeis-Sternwarte Bamberg, Astronomisches Institut der Universitat Erlangen-Nurnberg, ECAP, D-96049 Bamberg, Germany. ; Max-Planck-Institut fur Radioastronomie, D-53121 Bonn, Germany. Observatori Astronomic, Universitat de Valencia, E-46980 Paterna, Valencia, Spain. Departament d'Astronomia i Astrofisica, Universitat de Valencia, E-46100 Burjassot, Valencia, Spain. ; Max-Planck-Institut fur Radioastronomie, D-53121 Bonn, Germany. ; Dr. Remeis-Sternwarte Bamberg, Astronomisches Institut der Universitat Erlangen-Nurnberg, ECAP, D-96049 Bamberg, Germany.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/25378461" target="_blank"〉PubMed〈/a〉

Beschreibung: Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations determining the clinicobiological behaviour are not fully understood. Here we describe a comprehensive evaluation of the genomic landscape of 452 CLL cases and 54 patients with monoclonal B-lymphocytosis, a precursor disorder. We extend the number of CLL driver alterations, including changes in ZNF292, ZMYM3, ARID1A and PTPN11. We also identify novel recurrent mutations in non-coding regions, including the 3' region of NOTCH1, which cause aberrant splicing events, increase NOTCH1 activity and result in a more aggressive disease. In addition, mutations in an enhancer located on chromosome 9p13 result in reduced expression of the B-cell-specific transcription factor PAX5. The accumulative number of driver alterations (0 to 〉/=4) discriminated between patients with differences in clinical behaviour. This study provides an integrated portrait of the CLL genomic landscape, identifies new recurrent driver mutations of the disease, and suggests clinical interventions that may improve the management of this neoplasia.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Puente, Xose S -- Bea, Silvia -- Valdes-Mas, Rafael -- Villamor, Neus -- Gutierrez-Abril, Jesus -- Martin-Subero, Jose I -- Munar, Marta -- Rubio-Perez, Carlota -- Jares, Pedro -- Aymerich, Marta -- Baumann, Tycho -- Beekman, Renee -- Belver, Laura -- Carrio, Anna -- Castellano, Giancarlo -- Clot, Guillem -- Colado, Enrique -- Colomer, Dolors -- Costa, Dolors -- Delgado, Julio -- Enjuanes, Anna -- Estivill, Xavier -- Ferrando, Adolfo A -- Gelpi, Josep L -- Gonzalez, Blanca -- Gonzalez, Santiago -- Gonzalez, Marcos -- Gut, Marta -- Hernandez-Rivas, Jesus M -- Lopez-Guerra, Monica -- Martin-Garcia, David -- Navarro, Alba -- Nicolas, Pilar -- Orozco, Modesto -- Payer, Angel R -- Pinyol, Magda -- Pisano, David G -- Puente, Diana A -- Queiros, Ana C -- Quesada, Victor -- Romeo-Casabona, Carlos M -- Royo, Cristina -- Royo, Romina -- Rozman, Maria -- Russinol, Nuria -- Salaverria, Itziar -- Stamatopoulos, Kostas -- Stunnenberg, Hendrik G -- Tamborero, David -- Terol, Maria J -- Valencia, Alfonso -- Lopez-Bigas, Nuria -- Torrents, David -- Gut, Ivo -- Lopez-Guillermo, Armando -- Lopez-Otin, Carlos -- Campo, Elias -- England -- Nature. 2015 Oct 22;526(7574):519-24. doi: 10.1038/nature14666. Epub 2015 Jul 22.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Departamento de Bioquimica y Biologia Molecular, Instituto Universitario de Oncologia (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain. ; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain. ; Unitat de Hematologia, Hospital Clinic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain. ; Departament d'Anatomia Patologica, Microbiologia i Farmacologia, Universitat de Barcelona, 08036 Barcelona, Spain. ; Programa Conjunto de Biologia Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomedica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain. ; Research Unit on Biomedical Informatics, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain. ; Unidad de Genomica, IDIBAPS, 08036 Barcelona, Spain. ; Servicio de Hematologia, Hospital Clinic, IDIBAPS, 08036 Barcelona, Spain. ; Institute for Cancer Genetics, Columbia University, New York 10032, USA. ; Servicio de Hematologia, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain. ; Center for Genomic Regulation (CRG), Pompeu Fabra University (UPF), Hospital del Mar Research Institute (IMIM), 08003 Barcelona, Spain. ; Servicio de Hematologia, IBSAL-Hospital Universitario de Salamanca, Centro de Investigacion del Cancer, Universidad de Salamanca-CSIC, 37007 Salamanca, Spain. ; Centro Nacional de Analisis Genomico, Parc Cientific de Barcelona, 08028 Barcelona, Spain. ; Catedra Inter-Universitaria de Derecho y Genoma Humano, Universidad de Deusto, Universidad del Pais Vasco, 48007 Bilbao, Spain. ; Structural Biology and Biocomputing Programme, Spanish National Cancer Research Centre (CNIO), Spanish National Bioinformatics Institute, 28029 Madrid, Spain. ; Institute of Applied Biosciences, Center for Research and Technology Hellas, 57001 Thermi, Thessaloniki, Greece. ; Department of Molecular Biology, Faculty of Science, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, 6500 HB Nijmegen, The Netherlands. ; Servicio de Hematologia, Hospital Clinico de Valencia, 46010 Valencia, Spain.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26200345" target="_blank"〉PubMed〈/a〉

Beschreibung: Ankle sprains have been defined as the most common injury in sports. The aim of the present study was to investigate the ankle taping for the reduction of ankle dorsiflexion range of motion (ROM) and inter-limb in elite soccer and basketball players U18 in a single training session. Methods: A cross-sectional pilot study was performed on 38 male healthy elite athletes divided into two groups: a soccer group and a basketball group. Ankle dorsiflexion ROM and inter-limb asymmetries in a weight-bearing lunge position were assessed in three points: with no-tape, before the practice and immediately after the practice. Results: For the soccer group, significant differences (p 〈 0.05) were observed for the right ankle, but no differences for the asymmetry variable. The basketball group reported significant differences (p 〈 0.05) for the right ankle and symmetry. Conclusions: Ankle taping decreased the ankle dorsiflexion ROM in youth elite soccer and basketball players U18. These results could be useful as a prophylactic approach for ankle sprain injury prevention. However, the ankle ROM restriction between individuals without taping and individuals immediately assessed when the tape was removed after the training was very low.

Beschreibung: Soil moisture content has always been an important parameter to control because it is a deterministic factor for site-specific irrigation, seeding, transplanting, and compaction detection. In this work, a discrete sensor that is based on a SnO2–FP (Fabry-Pérot) cavity is presented and characterized in real soil conditions. As far as authors know, it is the first time that a microstructured optical fiber is used for real soil moisture measurements. Its performance is compared with a commercial capacitive soil moisture sensor in two different soil scenarios for two weeks. The optical sensor shows a great agreement with capacitive sensor’s response and gravimetric measurements, as well as a fast and reversible response; moreover, the interrogation technique allows for several sensors to be potentially multiplexed, which offers the possibility of local measurements instead of volumetric: it constitutes a great tool for real soil moisture monitoring.