One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.

Since the immunochemical identification of the bullous pemphigoid antigen 230 (BP230) as one of the major target autoantigens of bullous pemphigoid (BP) in 1981, our understanding of this protein has significantly increased. Cloning of its gene, development and characterization of animal models with engineered gene mutations or spontaneous mouse mutations have revealed an unexpected complexity of the gene encoding BP230. The latter, now called dystonin (DST), is composed of at least 100 exons and gives rise to three major isoforms, an epithelial, a neuronal and a muscular isoform, named BPAG1e (corresponding to the original BP230), BPAG1a and BPAG1b, respectively. The various BPAG1 isoforms play a key role in fundamental processes, such as cell adhesion, cytoskeleton organization, and cell migration. Genetic defects of BPAG1 isoforms are the culprits of epidermolysis bullosa and complex, devastating neurological diseases. In this review, we summarize recent advances of our knowledge about several BPAG1 isoforms, their role in various biological processes and in human diseases.

Der deutsche Michel als Gärtnerbursche lauscht den verschiedenen Gesängen der Reichsvögel: Der Gärtnerbursche Michel am Baum der deutschen Freiheit, welcher 1813 in Leipzig gepflanzt wurde ...

Welsch (Projektbearbeiter): Karikatur auf die politische Lage Deutschlands: Darstellung des deutschen Michels als Gärtnerburschen, der den Baum der deutschen Freiheit hegt, auf dessen Zweigen die 'Reichsvögel' (die verschiedenen politischen Richtungen) ihre Lieder singen

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.

Na 1 Nachlass Max Horkheimer, 363 - Korrespondenzen u.a. mit Alexander Mitscherlich (p. V 123, 1-184)

8 Briefe mit Beilagen zwischen Prof. Hans Meyerhoff und Max Horkheimer, 1953; 27 Briefe mit Beilagen zwischen Prof. Rolf Meyersohn und Max Horkheimer, 1958-1966; 12 Briefe zwischen Prof. Otto Michel und Max Horkheimer, 1961-1963; 112 Briefe zwischen Prof. Alexander Mitscherlich und Max Horkheimer; beteiligt: Tobias Brocher, 1952-1969;

Familien-Register und Stammtafel des Michel Isaac Bing und seiner Nachkommen : nebst beigefügtem Auszuge aus dem Testamente seiner Enkelin Gütche Worms geb. Oetingen, die Stiftung eines Brautvermächtnisses zu Gunsten ihrer Anverwandten betreffend

zusammengestellt von Elias Ullmann

Michel wach auf! : ein Mahnruf an das deutsche Volk

von Beerfelde, Hauptmann A.D.

Stanleys Forschungsreise quer durch Afrika : in den Jahren 1874 - 1877

von H. Daum

Michel-Richard de Lalande, Brustbild, Profil, auf Münze

Signatur des Originals: S 36/G01356

(Table 1) Element analyses of DSDP Hole 15-149

An iridium anomaly has been found in coincidence with the known microtektite level in cores from Deep Sea Drilling Project site 149 in the Caribbean Sea. The iridium was probably not in the microtektites but deposited simultaneously with them; this could occur if the iridium was deposited from a dust cloud resulting from a bolide impact, as suggested for the anomaly associated with the Cretaceous-Tertiary boundary. Other workers have deduced that the microtektites are part of the North American strewn tektite field, which is dated at about 34 million years before present, and that the microtektite horizon in deep-sea cores is synchronous with the extinction of five radiolarian species. Mass extinctions also occur in terrestrial mammals within 4 million years of this time. The iridium anomaly and the tektites and microtektites are supportive of a major bolide impact about 34 million years ago.