ALBERT

All Library Books, journals and Electronic Records Telegrafenberg

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    facet.materialart.
    Unknown
    Surface rupture during the 2010 Mw 7.1 Darfield (Canterbury) earthquake: Implications for fault rupture dynamics and seismic-hazard analysis (2012)
    Geological Society of America (GSA)
    Details
    Publication Date: 2012-01-01
    Description: The September 2010 Mw 7.1 Darfield (Canterbury) earthquake in New Zealand is one of the best-recorded earthquakes of this magnitude. The earthquake occurred on a previously unidentified fault system and generated a 29.5 ± 0.5-km-long surface rupture across a low-relief agricultural landscape. High-accuracy measurements of coseismic displacements were obtained at over 100 localities along the Greendale fault. Maximum net displacement (Dmax) (5.3 ± 0.5 m) and average net displacement (Davg) (2.5 ± 0.1 m) are anomalously large for an earthquake of this Mw. Dmax / surface rupture length (SRL) and Davg/SRL ratios are among the largest ever recorded for a continental strike-slip earthquake. “Geologically derived” estimates of moment magnitude (MwG) are less than the seismologically derived Mw, derived using widely employed SRL-Mw scaling regressions. MwG is greater than Mw using Dmax- and Davg-Mw regressions. The “geologically derived” static stress drop of 13.9 ± 3.7 MPa provides a context with which to compare this earthquake rupture to interplate and intraplate ruptures of similar Mw. This data set provides fundamental information on fault rupture processes relevant to seismic-hazard modeling in this region and analogous settings globally.
    Print ISSN: 0091-7613
    Electronic ISSN: 1943-2682
    Topics: Geosciences
    Published by Geological Society of America (GSA)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 2
    facet.materialart.
    Unknown
    Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia (2011)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2011-06-07
    Description: 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〉
    Keywords: Amino Acid Sequence ; Animals ; Carrier Proteins/genetics ; DNA Mutational Analysis ; Genome, Human/*genetics ; Humans ; Karyopherins/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/*genetics ; Molecular Sequence Data ; Mutation/*genetics ; Myeloid Differentiation Factor 88/chemistry/genetics ; Receptor, Notch1/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Reproducibility of Results
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 3
    facet.materialart.
    Unknown
    Non-coding recurrent mutations in chronic lymphocytic leukaemia (2015)
    Nature Publishing Group (NPG)
    Details
    Publication Date: 2015-07-23
    Description: 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〉
    Keywords: 3' Untranslated Regions/genetics ; Alternative Splicing/genetics ; B-Cell-Specific Activator Protein/biosynthesis/genetics ; B-Lymphocytes/metabolism ; Carrier Proteins/genetics ; Chromosomes, Human, Pair 9/genetics ; DNA Mutational Analysis ; DNA, Neoplasm/genetics ; Enhancer Elements, Genetic/genetics ; Genomics ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/*genetics/metabolism/pathology ; Mutation/*genetics ; Nerve Tissue Proteins/genetics ; Nuclear Proteins/genetics ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Receptor, Notch1/genetics/metabolism ; Transcription Factors/genetics
    Print ISSN: 0028-0836
    Electronic ISSN: 1476-4687
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Published by Nature Publishing Group (NPG)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 4
    facet.materialart.
    Unknown
    Complex multifault rupture during the 2016 Mw 7.8 Kaikoura earthquake, New Zealand (2017)
    American Association for the Advancement of Science (AAAS)
    In: Science
    Details
    Publication Date: 2017-04-15
    Description: On 14 November 2016, northeastern South Island of New Zealand was struck by a major moment magnitude ( M w ) 7.8 earthquake. Field observations, in conjunction with interferometric synthetic aperture radar, Global Positioning System, and seismology data, reveal this to be one of the most complex earthquakes ever recorded. The rupture propagated northward for more than 170 kilometers along both mapped and unmapped faults before continuing offshore at the island’s northeastern extent. Geodetic and field observations reveal surface ruptures along at least 12 major faults, including possible slip along the southern Hikurangi subduction interface; extensive uplift along much of the coastline; and widespread anelastic deformation, including the ~8-meter uplift of a fault-bounded block. This complex earthquake defies many conventional assumptions about the degree to which earthquake ruptures are controlled by fault segmentation and should motivate reevaluation of these issues in seismic hazard models.
    Keywords: Geochemistry, Geophysics, Online Only
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Geosciences , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 5
    facet.materialart.
    Unknown
    Landscape of somatic mutations and clonal evolution in mantle cell lymphoma (2013)
    National Academy of Sciences
    Details
    Publication Date: 2013-10-21
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 6
    facet.materialart.
    Unknown
    Next-generation sequencing of mantle cell lymphoma [Medical Sciences] (2013)
    National Academy of Sciences
    Details
    Publication Date: 2013-11-06
    Description: Mantle cell lymphoma (MCL) is an aggressive tumor, but a subset of patients may follow an indolent clinical course. To understand the mechanisms underlying this biological heterogeneity, we performed whole-genome and/or whole-exome sequencing on 29 MCL cases and their respective matched normal DNA, as well as 6 MCL cell lines....
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 7
    facet.materialart.
    Unknown
    PRAD-1/cyclin D1 gene overexpression in chronic lymphoproliferative disorders: a highly specific marker of mantle cell lymphoma (1994)
    American Society of Hematology
    Details
    Publication Date: 1994-10-15
    Description: The t(11;14)(q13;q32) translocation and its molecular counterpart bcl-1 rearrangement are frequently associated with mantle cell lymphomas (MCLs) and only occasionally with other variants of B-cell lymphoid malignancies. This translocation seems to activate the expression of PRAD-1/cyclin D1 gene located downstream from the major breakpoint cluster region of this rearrangement. However, the possible overexpression of this gene in other lymphoproliferative disorders independently of bcl-1 rearrangement is unknown. We have examined the overexpression of PRAD-1 gene in a large series of 142 lymphoproliferative disorders including 20 MCLs by Northern blot analysis. Cytogenetic and/or bcl-1 rearrangement analysis with 2 probes (MTC, p94PS) were performed in 28 cases. Strong PRAD-1 overexpression was observed in 19 of the 20 MCLs including 3 gastrointestinal forms and 4 blastic variants. t(11;14) and/or bcl-1 rearrangement was detected in 6 of the 12 MCLs examined. No correlation was found between the different levels of mRNA expression and the pathologic characteristics of the lymphoma. Among chronic lymphoproliferative disorders other than MCL, only 1 atypical chronic lymphocytic leukemia (CLL) with a t(11;14) translocation and bcl-1 rearrangement and the 2 hairy cell leukemias (HCLs) analyzed showed upregulation of PRAD-1 gene. The expression in the 2 HCLs was lower than in MCL, and no bcl-1 rearrangement was observed. These findings indicate that PRAD-1 overexpression is a highly sensitive and specific molecular marker of MCL but it may also be upregulated in some B-CLLs and in HCL.
    Print ISSN: 0006-4971
    Electronic ISSN: 1528-0020
    Topics: Biology , Medicine
    Published by American Society of Hematology
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 8
    facet.materialart.
    Unknown
    International Standardized Approach to Molecular and Flow Cytometric Residual Disease Monitoring in CLL. (2004)
    American Society of Hematology
    Details
    Publication Date: 2004-11-16
    Description: Conventional therapy in CLL is not curative, partly because minimal residual disease (MRD) is usually detectable after therapy. Recent therapeutic approaches achieve higher complete remission (CR) rates, and often aim for MRD eradication as this has repeatedly been shown to predict improved outcome. However, many different MRD techniques have been used to assess response, making it extremely difficult to interpret and compare different clinical trials. The aim of this international collaboration is to develop standardized flow cytometric and PCR approaches to MRD monitoring in CLL that are broadly applicable; to assess their relative sensitivity and specificity in a variety of laboratories; and to establish a standardized reporting convention to facilitate the interpretation of clinical trials. These techniques may be used as a benchmark for assessing response and comparing the efficacy of different therapeutic approaches. PCR approaches using consensus primers to the immunoglobulin heavy chain (IgH) gene are straightforward and frequently used, but have highly variable sensitivity between patients. In the proposed standardized method, the IgH gene is amplified using the BIOMED-2 primers (van Dongen et al, Leukemia 2003, 17:2257) and an allele-specific CDR3 primer is designed. CLL cells are identified by RQ-PCR using the allele-specific oligonucleotide (ASO) primer coupled with intronic JH primers and consensus reporter probes. The amount of PCR product is compared to a single copy housekeeping gene (albumin) to identify the number of CLL cells in the sample. This approach reproducibly quantitates as few as 1 CLL cell in 10,000 other leucocytes, and may provide qualitative information below this level. Multi-parameter flow cytometric analysis with combinations such as CD19/CD5/CD79b/CD20 is reported to have a sensitivity approaching that of ASO-PCR. However, such approaches are less effective in situations where normal B-cells lack CD20, e.g. in patients treated with combinations including rituximab and in normal bone marrow. To circumvent these problems, the group has tested 58 individual four-colour combinations of antibodies identified from protein expression profiling and previously published studies. CD79b/CD43/CD19/CD5, CD81/CD22/CD19/CD5, and CD20/CD38/CD19/CD5 provided the least inter-laboratory variation, independent of methodology. They show low contamination by non-CLL cells and were therefore selected as a core panel for MRD analysis. Dilutional studies indicate that a quantitative sensitivity equivalent for detection of 1 CLL cell in 10,000 leucocytes is achievable; the practical sensitivity is being tested in blinded dilutional analyses. The proposed flow cytometry approach is applicable to all sample types and all therapeutic regimes, and sufficiently rapid and sensitive to guide therapy to an MRD negative status in real time. The PCR approach is highly sensitive but more complex, and is most suited to retrospective response assessment of clinical trials. We have identified the appropriate standardized analytical methods for both techniques and are currently validating these findings. These approaches will allow direct comparison of efficacy between different clinical trials, allowing more rapid international progress towards identifying a curative approach.
    Print ISSN: 0006-4971
    Electronic ISSN: 1528-0020
    Topics: Biology , Medicine
    Published by American Society of Hematology
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 9
    facet.materialart.
    Unknown
    CD11c positive B-chronic lymphocytic leukemia [letter] (1991)
    American Society of Hematology
    Details
    Publication Date: 1991-10-01
    Print ISSN: 0006-4971
    Electronic ISSN: 1528-0020
    Topics: Biology , Medicine
    Published by American Society of Hematology
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
  • 10
    facet.materialart.
    Unknown
    CD11c positive B-chronic lymphocytic leukemia [letter] (1991)
    American Society of Hematology
    Details
    Publication Date: 1991-10-01
    Print ISSN: 0006-4971
    Electronic ISSN: 1528-0020
    Topics: Biology , Medicine
    Published by American Society of Hematology
    Location Call Number Expected Availability
    BibTip Others were also interested in ...
    PAPER CURRENT
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...