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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TL;DR: The identification and characterization of a five-carbon protein posttranslational modification (PTM) called lysine glutarylation (Kglu) is reported and it is demonstrated that the previously annotated deacetylase, sirtuin 5 (SIRT5), is aLysine deglutarylase.
610 citations
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TL;DR: In this paper, the spin and parity quantum numbers of the Higgs boson were studied based on the collision data collected by the ATLAS experiment at the LHC, and the results showed that the standard model spin-parity J(...
608 citations
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Boston Children's Hospital1, University of Chicago2, University of Washington3, University of Sussex4, Michigan State University5, McGill University6, Alfred I. duPont Hospital for Children7, Cedars-Sinai Medical Center8, University of Duisburg-Essen9, Queen's University10, University of British Columbia11, University of Calgary12, University of Toronto13, Medical College of Wisconsin14, Harvard University15, Erasmus University Rotterdam16, Providence Sacred Heart Medical Center and Children's Hospital17, St George’s University Hospitals NHS Foundation Trust18, Wolfson Medical Center19, University of Hamburg20, University of Göttingen21, University of Ottawa22
TL;DR: Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development.
Abstract: Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders associated with markedly enlarged brain size and other recognizable features. We performed exome sequencing in 3 families with MCAP or MPPH, and our initial observations were confirmed in exomes from 7 individuals with MCAP and 174 control individuals, as well as in 40 additional subjects with megalencephaly, using a combination of Sanger sequencing, restriction enzyme assays and targeted deep sequencing. We identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway. These include 2 mutations in AKT3, 1 recurrent mutation in PIK3R2 in 11 unrelated families with MPPH and 15 mostly postzygotic mutations in PIK3CA in 23 individuals with MCAP and 1 with MPPH. Our data highlight the central role of PI3K-AKT signaling in vascular, limb and brain development and emphasize the power of massively parallel sequencing in a challenging context of phenotypic and genetic heterogeneity combined with postzygotic mosaicism.
608 citations
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TL;DR: It is shown that Sox10 is restricted in the central nervous system to myelin-forming oligodendroglia, but does not control erbB3 expression as in peripheral glia, and functions in peripheral and central glia at different stages and through different mechanisms.
Abstract: Sox10 is a high-mobility-group transcriptional regulator in early neural crest. Without Sox10, no glia develop throughout the peripheral nervous system. Here we show that Sox10 is restricted in the central nervous system to myelin-forming oligodendroglia. In Sox10-deficient mice progenitors develop, but terminal differentiation is disrupted. No myelin was generated upon transplantation of Sox10-deficient neural stem cells into wild-type hosts showing the permanent, cell-autonomous nature of the defect. Sox10 directly regulates myelin gene expression in oligodendrocytes, but does not control erbB3 expression as in peripheral glia. Sox10 thus functions in peripheral and central glia at different stages and through different mechanisms.
608 citations
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21 Sep 1992TL;DR: The paper introduces the notion of conceptual neighborhood and its relevance for qualitative temporal reasoning and the resulting neighborhood-oriented representation and reasoning approach.
Abstract: A new approach to representing qualitative spatial knowledge and to spatial reasoning is presented This approach is motivated by cognitive considerations and is based on relative orientation information about spatial environments The approach aims at exploiting properties of physical space which surface when the spatial knowledge is structured according to conceptual neighborhood of spatial relations The paper introduces the notion of conceptual neighborhood and its relevance for qualitative temporal reasoning The extension of the benefits to spatial reasoning is suggested Several approaches to qualitative spatial reasoning are briefly reviewed Differences between the temporal and the spatial domain are outlined A way of transferring a qualitative temporal reasoning method to the spatial domain is proposed The resulting neighborhood-oriented representation and reasoning approach is presented and illustrated An example for an application of the approach is discussed
608 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 |