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 50 Nachlass Arthur Schopenhauer - 'Schopenhauer-Archiv', 117 - Bitte um Zusendung eines Buches

veröffentlicht in: Schopenhauer, Arthur : Arthur Schopenhauers sämtliche Werke - München : Piper - Bd. 14 : Der Briefwechsel Arthur Schopenhauers ; 1 (1799 - 1849), Nr. 56;

Ms.Ff.F.Stoltze 3. 117 - Brief von K. Hensel an Friedrich Stoltze

Bitte um Texte oder bibliographische Hinweise zu Stoltzes Veröffentlichungen über Goethe, für eine "Goethe-Arbeit", Bitte um biographische Notizen zu Marquard Georg Seufferhe1d

Ausst. 117/118 - Hl. Georg im Kampfe mit dem Drachen. Hl. Wolfgang : Teigdrucke

Vorbesitzer: Dominikanerkloster Frankfurt am Main;

Na 1 Nachlass Max Horkheimer, 696 - Cultural Aspects of national Socialism. A Research Project (p. IX 170.5)

"Cultural Aspects of National Socialism. A Research Project" (1941):; 5. "Introduction" (enthalten in 3.), Typoskripte und Manuskripte (u.a. Entwurf von Theodor W. Adorno und Manuskript von Max Horkheimer), insgesamt 117 Blatt;

Major and trace element analyses of ODP Leg 120 volcanic rocks (Table 1)

Widespread Lower Cretaceous magmatism occurred along the Indian-Australian/Antarctic margins, and in the juvenile Indian Ocean, during the rifting of eastern Gondwana. The formation of this magmatic province probably began around 120-130 Ma with the eruption of basalts on the Naturaliste Plateau and at Bunbury, western Australia. On the northeast margin of India, activity began around 117 Ma with the Rajmahal continental basalts and associated lamprophyre intrusions. The formation of the Kerguelen Plateau in the Indian Ocean began no later than 114 Ma. Ultramafic lamprophyres (alnoites) were emplaced in the Prince Charles Mountains near the Antarctic continental margin at ~ 110 Ma. These events are considered to be related to a major mantle plume, the remnant of which is situated beneath the region of Kerguelen and Heard islands at the present day. Geochemical data are presented for each of these volcanic suites and are indicative of complex interactions between asthenosphere-derived magmas and the continental lithosphere. Kerguelen Plateau basalts have Sr and Nd isotopic compositions lying outside the field for Indian Ocean mid-ocean ridge basalts (MORB) but, with the exception of Site 738 at the southern end of the plateau, within the range of more recent hotspot basalts from Kerguelen and Heard Islands. However, a number of the plateau tholeiites are characterized by lower 206Pb/204Pb ratios than are basalts from Kerguelen Island, and many also have anomalously high La/Nb ratios. These features suggest that the source of the Kerguelen Plateau basalts suffered contamination by components derived from the Gondwana continental lithosphere. An extreme expression of this lithospheric signature is shown by a tholeiite from Site 738, suggesting that the southernmost part of the Kerguelen Plateau may be underlain by continental crust. The Rajmahal tholeiites mostly fall into two distinct geochemical groups. Some Group I tholeiites have Sr and Nd isotopic compositions and incompatible element abundances, similar to Kerguelen Plateau tholeiites from Sites 749 and 750, indicating that the Kerguelen-Heard mantle plume may have directly furnished Rajmahal volcanism. However, their elevated 207Pb/204Pb ratios indicate that these magmas did not totally escape contamination by continental lithosphere. In contrast to the Group I tholeiites, significant contamination is suggested for Group II Rajmahal tholeiites, on the basis of incompatible element abundances and isotopic compositions. The Naturaliste Plateau and the Bunbury Basalt samples show varying degrees of enrichment in incompatible elements over normal MORB. The Naturaliste Plateau samples (and Bunbury Basalt) have high La/Nb ratios, a feature not inconsistent with the notion that the plateau may consist of stretched continental lithosphere, near the ocean-continent divide.

(Table 1) Contents of tungsten and other metals in Fe-Mn nodules from the Pacific Ocean

Tungsten contents in iron-manganese nodules and crusts from different parts of the World Ocean, as well as its relationships with a number of chemical elements are under consideration. A trend to correlation of tungsten with Fe, Ti, W, Pb, and Co is noticed. Comparison of tungsten contents in the nodules and host sediments indicates its low geochemical mobility.

Distribution of dinoflagellate cycst at ODP Site 123-765 (Table 1)

Site 765 contains a sequence of tropical, middle Miocene to Holocene dinoflagellate cysts. These diverse assemblages are characterized by abundant Polysphaeridium zoharyi and Spiniferites bulloideus. Abundances of Impagidinium spp. and Nematosphaeridium spp. reflect the shelf-to-slope origin of the assemblages. One new genus, Blysmatodinium, and two new species, Nematosphaeridium (?) wrennii sp. nov. and Blysmatodinium argoi, are described.

Pollen abundance in ODP Site 123-765 (Table 1)

Middle Miocene to Holocene pollen assemblages reveal a history of environmental change in northern Australia. Grass pollen appeared, but was rare, in the late Miocene and was consistently present throughout the Pliocene, but did not become abundant until the Pleistocene. Myrtaceae pollen, characteristic of late Cenozoic assemblages in eastern Australia, is poorly represented, and no unequivocal evidence of rain forest was found.