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Institution

University of Hamburg

EducationHamburg, 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.


Papers
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Journal ArticleDOI
TL;DR: Data suggest that mid regions of the dmPFC/dACC are part of a "core" fear network that is activated irrespective of how fear was learnt, and allow for maintaining the theory that the rostral dMPFC is involved in conscious threat appraisal.

378 citations

Journal ArticleDOI
TL;DR: It is postulated that the liquid biopsy concept will contribute to a better understanding and clinical management of drug resistance in patients with cancer.
Abstract: Distant metastases harbor unique genomic characteristics not detectable in the corresponding primary tumor of the same patient and metastases located at different sites show a considerable intrapatient heterogeneity. Thus, the mere analysis of the resected primary tumor alone (current standard practice in oncology) or, if possible, even reevaluation of tumor characteristics based on the biopsy of the most accessible metastasis may not reveal sufficient information for treatment decisions. Here, we propose that this dilemma can be solved by a new diagnostic concept: liquid biopsy, that is, analysis of therapeutic targets and drug resistance-conferring gene mutations on circulating tumor cells (CTC) and cell-free circulating tumor DNA (ctDNA) released into the peripheral blood from metastatic deposits. We discuss the current challenges and future perspectives of CTCs and ctDNA as biomarkers in clinical oncology. Both CTCs and ctDNA are interesting complementary technologies that can be used in parallel in future trials assessing new drugs or drug combinations. We postulate that the liquid biopsy concept will contribute to a better understanding and clinical management of drug resistance in patients with cancer.

377 citations

Journal ArticleDOI
Markus Wolff1, Katrine M Johannesen2, Ulrike B. S. Hedrich3, Silvia Masnada4, Guido Rubboli5, Elena Gardella2, Gaetan Lesca6, Gaetan Lesca7, Dorothée Ville8, Mathieu Milh9, Laurent Villard9, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava10, Niklas Schwarz3, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin11, Maria J Miranda, Maja Hempel12, Eva H. Brilstra13, Nine V A M Knoers13, Nienke E. Verbeek13, Marjan J. A. van Kempen13, Kees P.J. Braun13, Grazia M.S. Mancini14, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper1, Lily C. Wong-Kisiel15, Friedrich A. M. Baumeister1, Walid Fazeli, Pasquale Striano16, Robertino Dilena17, Elena Fontana, Federico Zara, Gerhard Kurlemann1, Joerg Klepper1, Jess G. Thoene18, Daniel H. Arndt1, Nicolas Deconinck19, Thomas Schmitt-Mechelke1, Oliver Maier1, Hiltrud Muhle20, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz1, Günther Golla21, Dinesh V Jillella1, Karen Markussen Linnet22, Perrine Charles, Ute Moog23, Eve Õiglane-Shlik24, John F Mantovani1, Kristen Park25, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais26, Laila Selim27, Rudy Van Coster28, Lieven Lagae29, Marina Nikanorova, Helle Hjalgrim2, G. Christoph Korenke, Marina Trivisano1, Nicola Specchio1, Berten Ceulemans30, Thomas Dorn, Katherine L. Helbig, Katia Hardies30, Hannah Stamberger30, Peter De Jonghe30, Sarah Weckhuysen30, Johannes R. Lemke31, Ingeborg Krägeloh-Mann1, Ingo Helbig20, Ingo Helbig32, Gerhard Kluger, Holger Lerche3, Rikke S. Møller2 
01 May 2017-Brain
TL;DR: Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.
Abstract: Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p.Arg853Gln: two new and four previously reported children). Other known phenotypes include Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, and intellectual disability or autism without epilepsy. To assess the response to antiepileptic therapy, we retrospectively reviewed the treatment regimen and the course of the epilepsy in 66 patients for which well-documented medical information was available. We find that the use of sodium channel blockers was often associated with clinically relevant seizure reduction or seizure freedom in children with early infantile epilepsies (<3 months), whereas other antiepileptic drugs were less effective. In contrast, sodium channel blockers were rarely effective in epilepsies with later onset (≥3 months) and sometimes induced seizure worsening. Regarding the genetic findings, truncating mutations were exclusively seen in patients with late onset epilepsies and lack of response to sodium channel blockers. Functional characterization of four selected missense mutations using whole cell patch-clamping in tsA201 cells—together with data from the literature—suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation). Our clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.

377 citations

Journal ArticleDOI
TL;DR: In this paper, the authors report on a survey of the innovation activities and characteristics of 153 users of outdoor-related consumer products and find a high level of innovation by these consumers.

376 citations

Journal ArticleDOI
19 Apr 1984-Nature
TL;DR: In rats with hereditary hypothalamic diabetes insipidus (Brattleboro rats) the gene for the vasopressin precursor lacks a single G residue in the protein-coding region, which gives rise to an open reading frame predicting a hormone precursor having a different C-terminus.
Abstract: In rats with hereditary hypothalamic diabetes insipidus (Brattleboro rats) the gene for the vasopressin precursor lacks a single G residue in the protein-coding region. The mutation gives rise to an open reading frame predicting a hormone precursor having a different C-terminus.

376 citations


Authors

Showing all 46072 results

NameH-indexPapersCitations
Rudolf Jaenisch206606178436
Bruce M. Psaty1811205138244
Stefan Schreiber1781233138528
Chris Sander178713233287
Dennis J. Selkoe177607145825
Daniel R. Weinberger177879128450
Ramachandran S. Vasan1721100138108
Bradley Cox1692150156200
Anders Björklund16576984268
J. S. Lange1602083145919
Hannes Jung1592069125069
Andrew D. Hamilton1511334105439
Jongmin Lee1502257134772
Teresa Lenz1501718114725
Stefanie Dimmeler14757481658
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Performance
Metrics
No. of papers from the Institution in previous years
YearPapers
2023282
2022817
20215,784
20205,491
20194,994
20184,587