University of Erlangen-Nuremberg

About: University of Erlangen-Nuremberg is a education organization based out in Erlangen, Bayern, Germany. It is known for research contribution in the topics: Population & Immune system. The organization has 42405 authors who have published 85600 publications receiving 2663922 citations.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Abstract: Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.

The Family Innovator's Dilemma: How Family Influence Affects the Adoption of Discontinuous Technologies by Incumbent Firms

Abstract: We integrate research on family business and discontinuous change to better explain why incumbents vary in when and how they adopt discontinuous technologies. Family influence induces companies to strive for continuity, command, community, and connections and, thus, alters the mix of constraints under which firms operate. Consequently, family influence weakens several of the inertial forces described in the discontinuous change literature, particularly the level of formalization, dependence on external capital providers, and political resistance. However, it also aggravates critical sources of organizational paralysis, specifically emotional ties to existing assets and the rigidity of mental models. We aggregate these seemingly contradictory effects to show that, overall, discontinuous change conflicts with essential goals and values of the family system, and, therefore, family influence entails fundamentally different dilemmas than those described in extant research. In turn, although highly family-influ...

Combustion in a Porous Medium-Advances and Applications

Abstract: In this paper research and development work of the authors is described, which led to the design of a new combustor-heat exchanger system based on the combustion in porous media. Combustion in inert porous media is possible if the Peclet-number is high enough ( > 65), so that quenching of the flame inside the pores is prohibited. The heat transfer from the combustion zone, to the porous medium itself is very effective because of the very large surface between them. The combustion temperature can be controlled through the porous medium temperature. Prompt and thermal NOx formation, which is temperature dependent, can be controlled by appropriate cooling of the combustion zone. The heat transfer mechanisms in the combustor are discussed and new designs of porous materials are proposed, which allow a high power density and a better control of the temperature level in the combustion zone. The possible application field and the expected benefits of this combustion technique are discussed.

Gangliogliomas: an intriguing tumor entity associated with focal epilepsies.

Abstract: Gangliogliomas represent the most frequent tumor entity in young patients suffering from chronic focal epilepsies. In a series of 326 gangliogliomas collected from the University of Bonn Epilepsy Surgery Program and other departments of neuropathology in Germany, Austria, and Switzerland, epidemiological findings and histopathological hallmarks of gangliogliomas are systematically reviewed. The majority of these tumors occur within the temporal lobe and reveal a biphasic histological architecture characterized by a combination of dysplastic neurons and neoplastic glial cell elements. However, gangliogliomas exhibit a considerable variability in their histopathological appearance. Immunohistochemical studies are an important tool to discriminate these neoplasms from other tumor entities. Almost 80% of gangliogliomas reveal immunoreactivity for CD34, a stem cell epitope not expressed in normal brain. Immunohistochemical reactions for MAP2 or NeuN can be employed to characterize the dysplastic nature of neurons in those areas difficult to discriminate from pre-existing brain parenchyma. Less than 50% of the cases display binucleated neurons. With the frequent finding of "satellite" tumor clusters in adjacent brain regions, gangliogliomas are microscopically less circumscribed than previously assumed. The distinction from diffusely infiltrating gliomas is of considerable importance since tumor recurrence or malignant progression are rare events in gangliogliomas. Only little is known about the molecular pathogenesis of these glioneuronal tumors. Our findings support a dysontogenic origin from a glioneuronal precursor lesion with neoplastic, clonal proliferation of the glial cell population. Candidate genes appear to associate with neurodevelopmental signaling cascades rather than cell cycle control or DNA repair mechanisms. The reelin signaling and tuberin/insulin growth receptor pathways have recently been implicated in ganglioglioma development. Powerful new molecular genetic and biological tools can now be employed to unravel the pathogenesis of these intriguing lesions.

Supported Ionic Liquid Phase (SILP) Catalysis: An Innovative Concept for Homogeneous Catalysis in Continuous Fixed-Bed Reactors

Abstract: Applications of ionic liquids to replace conventional solvents in homogeneous transition-metal catalysis have increased significantly during the last decade. Biphasic ionic liquid/organic liquid systems offer advantages with regard to product separation, catalyst stability, and recycling but utilise in the case of fast chemical reactions only a small amount of expensive ionic liquid and catalyst. The novel Supported Ionic Liquid Phase (SILP) catalysis concept overcomes these drawbacks and allows the use of fixed-bed reactors for continuous reactions. In this Microreview the SILP catalysis concept is surveyed by presenting results for the continuous gas-phase hydroformylation of propene, as a reaction example. (© Wiley-VCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2006)