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A SEC61A1 Variant is Associated with Autosomal Dominant Polycystic Liver Disease
Abstract: Background and Aims Autosomal dominant polycystic liver and kidney disease is a spectrum of hereditary diseases, which display disturbed function of primary cilia leading to cyst formation. In autosomal dominant polycystic kidney disease a genetic cause can be determined in almost all cases. However, in isolated polycystic liver disease (PLD) about half of all cases remain genetically unsolved, suggesting more, so far unidentified genes to be implicated in this disease. Methods Customized next-generation sequencing was used to identify the underlying pathogenesis in two related patients with PLD. A variant identified in SEC61A1 was further analysed in immortalized patients' urine s...
Yearbook
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Die Sünde als Strukturprinzip der Dichtung
Die aus fünf Büchern bestehende Dichtung De spiritalis historiae gestis des Avitus von Vienne ist eines der bedeutendsten Bibelepen der Spätantike. Bislang existieren in der Forschung nur unzureichende Modelle über den inneren Zusammenhang zwischen diesen Büchern. Die Verbindung ist jedoch in dem Wechsel von "Sünden-Erzählungen" und "Ordnungs-Erzählungen" eindeutig gegeben. Paradoxerweise ist gerade die Auflösung des ordo durch die Sünde ein strukturelles Ordnungsprinzip dieses Werks. Dem wird hier mit einer mehrphasigen Methodik nachgegangen. Unter Berücksichtigung philologischer Beobachtungen werden Theologie-, Exegese-, Gattungs- und Motivgeschichte sowie Rezeptionsästhetik de...
Pilgrims on the Silk Road
Synopsis: They were seeking religious freedom and the Second Coming of Christ in Central Asia. They found themselves in the care of a Muslim king. During the 1880s, Mennonites from Russia made a treacherous journey to the Silk Road kingdom of Khiva. Both Uzbek and Mennonite history seemed to set the stage for ongoing religious and ethnic discord. Yet their story became an example of friendship and cooperation between Muslims and Christians. Pilgrims on the Silk Road challenges conventional wisdom about the trek to Central Asia and the settlement of Ak Metchet. It shows how the story, long associated with failed End Times prophecies, is being recast in light of new evidence. Pilgrims highligh...
Dynamic Language Embedding
In this dissertation we present Helvetia, a novel approach to embed languages into an existing host language by leveraging the underlying representation of the host language used by these tools. We introduce Language Boxes, an approach that offers a simple, modular mechanism to encapsulate (i) compositional changes to the host language, (ii) transformations to address various concerns such as compilation and syntax highlighting, and (iii) scoping rules to control visibility of fine-grained language changes. We describe the design and implementation of Helvetia and Language Boxes, discuss the required infrastructure of a host language enabling language embedding, and validate our approach by case studies that demonstrate different ways to extend or adapt the host language syntax and semantics.
