Institution
University of Hamburg
Education•Hamburg, Germany•
About: University of Hamburg is a education organization based out in Hamburg, Germany. It is known for research contribution in the topics: Population & Laser. The organization has 45564 authors who have published 89286 publications receiving 2850161 citations. The organization is also known as: Hamburg University.
Topics: Population, Laser, Transplantation, Large Hadron Collider, Higgs boson
Papers published on a yearly basis
Papers
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German Cancer Research Center1, European Bioinformatics Institute2, Max Planck Society3, Stanford University4, Broad Institute5, Heidelberg University6, University of Amsterdam7, Ludwig Maximilian University of Munich8, Saarland University9, Boston Children's Hospital10, McGill University11, University of Hamburg12, Royal Victoria Infirmary13, University of Cambridge14, Manchester Academic Health Science Centre15, University of Düsseldorf16, Harvard University17
TL;DR: An integrative deep-sequencing analysis of 125 tumour–normal pairs enhances the understanding of the genomic complexity and heterogeneity underlying medulloblastoma, and provides several potential targets for new therapeutics, especially for Group 3 and 4 patients.
Abstract: Medulloblastoma is an aggressively growing tumour, arising in the cerebellum or medulla/brain stem. It is the most common malignant brain tumour in children, and shows tremendous biological and clinical heterogeneity. Despite recent treatment advances, approximately 40% of children experience tumour recurrence, and 30% will die from their disease. Those who survive often have a significantly reduced quality of life. Four tumour subgroups with distinct clinical, biological and genetic profiles are currently identified. WNT tumours, showing activated wingless pathway signalling, carry a favourable prognosis under current treatment regimens. SHH tumours show hedgehog pathway activation, and have an intermediate prognosis. Group 3 and 4 tumours are molecularly less well characterized, and also present the greatest clinical challenges. The full repertoire of genetic events driving this distinction, however, remains unclear. Here we describe an integrative deep-sequencing analysis of 125 tumour-normal pairs, conducted as part of the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project. Tetraploidy was identified as a frequent early event in Group 3 and 4 tumours, and a positive correlation between patient age and mutation rate was observed. Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns. RNA sequencing confirmed these alterations, and revealed the expression of what are, to our knowledge, the first medulloblastoma fusion genes identified. Chromatin modifiers were frequently altered across all subgroups. These findings enhance our understanding of the genomic complexity and heterogeneity underlying medulloblastoma, and provide several potential targets for new therapeutics, especially for Group 3 and 4 patients.
775 citations
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TL;DR: The discovery that leptin has direct effects on renal pathophysiological characteristics is discovered, which suggests that the kidney is not only a site of leptin metabolism, but also a target organ for leptin action in pathophysiology states.
773 citations
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TL;DR: It is shown that patients from four families with WS4 have mutations in SOx10, whereas no mutation could be detected in patients with HSCR alone, and this point to an essential role ofSOx10 in the development of two neural crest-derived human cell lineages.
Abstract: Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective function of the embryonic neural crest. WS and HSCR are associated in patients with Waardenburg-Shah syndrome (WS4), whose symptoms are reminiscent of the white coat-spotting and aganglionic megacolon displayed by the mouse mutants Dom (Dominant megacolon), piebald-lethal (sl) and lethal spotting (ls). The sl and ls phenotypes are caused by mutations in the genes encoding the Endothelin-B receptor (Ednrb) and Endothelin 3 (Edn3), respectively. The identification of Sox10 as the gene mutated in Dom mice (B.H. et al., manuscript submitted) prompted us to analyse the role of its human homologue SOX10 in neural crest defects. Here we show that patients from four families with WS4 have mutations in SOX10, whereas no mutation could be detected in patients with HSCR alone. These mutations are likely to result in haploinsufficiency of the SOX10 product. Our findings further define the locus heterogeneity of Waardenburg-Hirschsprung syndromes, and point to an essential role of SOX10 in the development of two neural crest-derived human cell lineages.
773 citations
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University of Zurich1, Erasmus University Rotterdam2, Ludwig Maximilian University of Munich3, Medical University of Vienna4, Umeå University5, Aix-Marseille University6, University Hospital Heidelberg7, VU University Amsterdam8, Institut Gustave Roussy9, University of Cambridge10, University of Portsmouth11, University of Bonn12, Leiden University13, University of Lausanne14, University of Hamburg15, University of Düsseldorf16, German Cancer Research Center17
TL;DR: The European Association for Neuro-Oncology guideline provides recommendations for the clinical care of adult patients with astrocytic and oligodendroglial gliomas, including glioblastomas, based on the 2016 WHO classification of tumours of the central nervous system and on scientific developments since the 2014 guideline.
Abstract: The European Association for Neuro-Oncology guideline provides recommendations for the clinical care of adult patients with astrocytic and oligodendroglial gliomas, including glioblastomas. The guideline is based on the 2016 WHO classification of tumours of the central nervous system and on scientific developments since the 2014 guideline. The recommendations focus on pathological and radiological diagnostics, and the main treatment modalities of surgery, radiotherapy, and pharmacotherapy. In this guideline we have also integrated the results from contemporary clinical trials that have changed clinical practice. The guideline aims to provide guidance for diagnostic and management decisions, while limiting unnecessary treatments and costs. The recommendations are a resource for professionals involved in the management of patients with glioma, for patients and caregivers, and for health-care providers in Europe. The implementation of this guideline requires multidisciplinary structures of care, and defined processes of diagnosis and treatment.
773 citations
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TL;DR: In this paper, a comprehensive review of negative emissions technologies (NETs) is presented, focusing on seven technologies: bioenergy with carbon capture and storage (BECCS), afforestation and reforestation, enhanced weathering, ocean fertilisation, biochar, and soil carbon sequestration.
Abstract: The most recent IPCC assessment has shown an important role for negative emissions technologies (NETs) in limiting global warming to 2 °C cost-effectively. However, a bottom-up, systematic, reproducible, and transparent literature assessment of the different options to remove CO2 from the atmosphere is currently missing. In part 1 of this three-part review on NETs, we assemble a comprehensive set of the relevant literature so far published, focusing on seven technologies: bioenergy with carbon capture and storage (BECCS), afforestation and reforestation, direct air carbon capture and storage (DACCS), enhanced weathering, ocean fertilisation, biochar, and soil carbon sequestration. In this part, part 2 of the review, we present estimates of costs, potentials, and side-effects for these technologies, and qualify them with the authors' assessment. Part 3 reviews the innovation and scaling challenges that must be addressed to realise NETs deployment as a viable climate mitigation strategy. Based on a systematic review of the literature, our best estimates for sustainable global NET potentials in 2050 are 0.5–3.6 GtCO₂ yr⁻¹ for afforestation and reforestation, 0.5–5 GtCO₂ yr⁻¹ for BECCS, 0.5–2 GtCO₂ yr⁻¹ for biochar, 2–4 GtCO₂ yr⁻¹ for enhanced weathering, 0.5–5 GtCO₂ yr⁻¹ for DACCS, and up to 5 GtCO2 yr⁻¹ for soil carbon sequestration. Costs vary widely across the technologies, as do their permanency and cumulative potentials beyond 2050. It is unlikely that a single NET will be able to sustainably meet the rates of carbon uptake described in integrated assessment pathways consistent with 1.5 °C of global warming.
772 citations
Authors
Showing all 46072 results
Name | H-index | Papers | Citations |
---|---|---|---|
Rudolf Jaenisch | 206 | 606 | 178436 |
Bruce M. Psaty | 181 | 1205 | 138244 |
Stefan Schreiber | 178 | 1233 | 138528 |
Chris Sander | 178 | 713 | 233287 |
Dennis J. Selkoe | 177 | 607 | 145825 |
Daniel R. Weinberger | 177 | 879 | 128450 |
Ramachandran S. Vasan | 172 | 1100 | 138108 |
Bradley Cox | 169 | 2150 | 156200 |
Anders Björklund | 165 | 769 | 84268 |
J. S. Lange | 160 | 2083 | 145919 |
Hannes Jung | 159 | 2069 | 125069 |
Andrew D. Hamilton | 151 | 1334 | 105439 |
Jongmin Lee | 150 | 2257 | 134772 |
Teresa Lenz | 150 | 1718 | 114725 |
Stefanie Dimmeler | 147 | 574 | 81658 |