Gutmeinung über den Talmud der Hebräer : (nach e. Manuscript vom Jahre 1802)

verfaßt von Karl Fischer

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Dent disease is a rare X-linked tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis, progressive renal failure, and variable manifestations of other proximal tubule dysfunctions. It often progresses over a few decades to chronic renal insufficiency, and therefore molecular characterization is important to allow appropriate genetic counseling. Two genetic subtypes have been described to date: Dent disease 1 is caused by mutations of the CLCN5 gene, coding for the chloride/proton exchanger ClC-5; and Dent disease 2 by mutations of the OCRL gene, coding for the inositol polyphosphate 5-phosphatase OCRL-1. Herein, we review previously reported mutations (n = 192) and their associated phenotype in 377 male patients with Dent disease 1 and describe phenotype and novel (n = 42) and recurrent mutations (n = 24) in a large cohort of 117 Dent disease 1 patients belonging to 90 families. The novel missense and in-frame mutations described were mapped onto a three-dimensional homology model of the ClC-5 protein. This analysis suggests that these mutations affect the dimerization process, helix stability, or transport. The phenotype of our cohort patients supports and extends the phenotype that has been reported in smaller studies.

Jacob Moses [Illustration] : 1724 - 1802

Scan von Monochrom-Mikroform

Observationes ad cognitionem mei et aliorum: Januar - Juli 1735

Handschrift

Observationes ad cognitionem mei et aliorum: Juli - Dezember 1735

Handschrift

Das neue Stempelpatent vom 5ten Oktober 1802 für Böhmen, Ost- und Westgalizien : nebst der Kommerzialstadt Brody und dem Bukowiner Kreise, Österreich ob- und unter der Ens, Mähren, Schlesien, Steyermark, Kärnthen, Krain, Görz und Gradiska

alphabetisch geordnet von Dr. M. Adolph Kopetz

A classical tour through Italy : an 1802

by John Chetwode Eustace

Daniel-François-Esprit Auber, Ganzfigurbildnis

Signatur des Originals: S 36/F00058

Daniel-François-Esprit Auber, Brustbild

Signatur des Originals: S 36/F00059

Daniel-François-Esprit Auber, Hüftbild

Signatur des Originals: S 36/F00060

Daniel-François-Esprit Auber, Brustbild

Signatur des Originals: S 36/F00061

Daniel-François-Esprit Auber, Kniestück

Signatur des Originals: S 36/F00062