Exon 17 skipping in CLCN1 leads to recessive myotonia congenita

Mutations in CLCN1, the gene encoding the ClC-1 chloride channel in skeletal muscle, lead to myotonia congenita. The effects on the intramembranous channel forming domains have been investigated more than that at the intracellular C-terminus. We have performed a mutation screen involving the whole CLCN1 gene of patients with myotonia congenita by polymerase chain reaction (PCR), single-strand conformation polymorphism studies, and sequencing. Two unrelated patients harbored the same homozygous G-to-T mutation on the donor splice site of intron 17. This led to the skipping of exon 17, as evidenced by the reverse transcriptase PCR. When the exon 17-deleted CLCN1 was expressed in Xenopus oocytes, no chloride current was measurable. This function could be restored by coexpression with the wild-type channel. Our data suggest an important role of this C-terminal region and that exon 17 skipping resulting from a homozygous point mutation in CLCN1 can lead to recessive myotonia congenita.

Träume vom Anderen

Die traditionelle japanische Architektur mit ihrer Leere und Sachlichkeit wurde zwischen 1930 und 1950 zu einem Referenzmodell für die Moderne. Doch die Wahrnehmung der gestalterischen Qualitäten der japanischen Baukunst in Europa erfolgte spät. Manfred Speidel untersucht in seinem Beitrag die Schritte und die Motive für die Wahrnehmung der japanischen Baukunst in Deutschland – ein Prozess der bis heute vom "Überraschtsein" erzählt, in Asien grundlegende Ziele der Moderne wiederzufinden.

Intraductal papillary neoplasms of the bile duct: stepwise progression to carcinoma involves common molecular pathways

Intraductal papillary neoplasms of the bile duct are still poorly characterized regarding (1) their molecular alterations during the development to invasive carcinomas, (2) their subtype stratification and (3) their biological behavior. We performed a multicenter study that analyzed these issues in a large European cohort. Intraductal papillary neoplasms of the bile duct from 45 patients were graded and subtyped using mucin markers and CDX2. In addition, tumors were analyzed for common oncogenic pathways, and the findings were correlated with subtype and grade. Data were compared with those from 22 extra- and intrahepatic cholangiocarcinomas. Intraductal papillary neoplasms showed a development from preinvasive low- to high-grade intraepithelial neoplasia to invasive carcinoma. Molecular and immunohistochemical analysis revealed mutated KRAS, overexpression of TP53 and loss of p16 in low-grade intraepithelial neoplasia, whereas loss of SMAD4 was found in late phases of tumor development. Alterations of HER2, EGFR, β-catenin and GNAS were rare events. Among the subtypes, pancreato-biliary (36%) and intestinal (29%) were the most common, followed by gastric (18%) and oncocytic (13%) subtypes. Patients with intraductal papillary neoplasm of the bile duct showed a slightly better overall survival than patients with cholangiocarcinoma (hazard ratio (cholangiocarcinoma versus intraductal papillary neoplasm of the bile duct): 1.40; 95% confidence interval: 0.46-4.30; P=0.552). The development of biliary intraductal papillary neoplasms of the bile duct follows an adenoma-carcinoma sequence that correlates with the stepwise activation of common oncogenic pathways. Further large trials are needed to investigate and verify the finding of a better prognosis of intraductal papillary neoplasms compared with conventional cholangiocarcinoma.

Directed Metalation Cascade To Access Highly Functionalized Thieno2,3-fbenzofuran and Exploration as Building Blocks for Organic Electronics

A tandem directed metalation has been successfully applied to the preparation of thieno2,3-fbenzofuran-4,8-dione, providing an efficient and facile approach to symmetrically and unsymmetrically functionalize the thieno2,3-fbenzofuran core at the 2,6 positions as well as to introduce the electron-withdrawing or -donating groups (EWG or EDG) at its 4,8 positions. The presence of various functional groups makes late-stage derivatization attainable.

Zazen meditation and no-task resting EEG compared with LORETA intracortical source localization

Meditation is a self-induced and willfully initiated practice that alters the state of consciousness. The meditation practice of Zazen, like many other meditation practices, aims at disregarding intrusive thoughts while controlling body posture. It is an open monitoring meditation characterized by detached moment-to-moment awareness and reduced conceptual thinking and self-reference. Which brain areas differ in electric activity during Zazen compared to task-free resting? Since scalp electroencephalography (EEG) waveforms are reference-dependent, conclusions about the localization of active brain areas are ambiguous. Computing intracerebral source models from the scalp EEG data solves this problem. In the present study, we applied source modeling using low resolution brain electromagnetic tomography (LORETA) to 58-channel scalp EEG data recorded from 15 experienced Zen meditators during Zazen and no-task resting. Zazen compared to no-task resting showed increased alpha-1 and alpha-2 frequency activity in an exclusively right-lateralized cluster extending from prefrontal areas including the insula to parts of the somatosensory and motor cortices and temporal areas. Zazen also showed decreased alpha and beta-2 activity in the left angular gyrus and decreased beta-1 and beta-2 activity in a large bilateral posterior cluster comprising the visual cortex, the posterior cingulate cortex and the parietal cortex. The results include parts of the default mode network and suggest enhanced automatic memory and emotion processing, reduced conceptual thinking and self-reference on a less judgmental, i.e., more detached moment-to-moment basis during Zazen compared to no-task resting.

Religion and Ethnicity in Mongolian Societies. Historical and Contemporary Perspectives

This volume about religion and ethnicity in Mongolian societies is the outcome of an international seminar organized in Switzerland in 2009. Ten contributions explore the interplay of religion and ethnicity in the Mongolian and Buryat-Mongolian regions, covering four hundred years of Mongolian and Buryat history. Drawing on methods of diverse scholarly disciplines, including religious studies, Tibetan and Mongolian studies, social anthropology and history, the issues addressed include Mongolian identity formations in the light of the Tibeto-Mongolian interface in the 17th century, Buryat religious survival in the colonial setting of 18th and 19th century Russia, the interplay of religion and politics in Buryatia, a case study of the famous “Imperishable Body” of Khambo Lama Itigelov, an analysis of the religious politics of the Buryat Traditional Sangha in today’s Republic of Buryatia, the role of Shamanism in the identity practices of Modern Buryatia, as well as the revival of “traditional” religions like Buddhism and Shamanism in Mongolia and the emergence of new religions, especially Christianity. Furthermore, two contributions provide in-depth analyses of the dominant theoretical approaches that inform Russian and Anglophone scholarship dealing with these questions.

Cyanide Compounds

Chapter 4, “Cyanide Compounds,” illustrates an explosively developing research theme in which the cyanide ligand is used as a linking agent for the designed assembly of polynuclear metal complexes. Syntheses of several basic building blocks, such as K3[Cr(CN)6],Cr(Me3tacn)(CN)3,K4[Mo(CN)8],Na[W(CO)5CN],K[CpFe(CO)(CN)2],[NEt4][Cp*Rh(CN)3],[Fe4(bpy)8(μ-CN)4][PF6]4,. are given here. These units may be used in several ways to construct polynuclear compounds. One approach involves a hexacyanometalate core decorated with peripheral metal centers, e.g., [{Cu(tpa)(CN)}6Fe][ClO4]8. or [Cr{CNNi(tetren)}6][ClO4]9. An octacyanometalate unit can lead to higher nuclearity condensed compounds, as in [Co{Co(MeOH)3}8(μ-CN)30{Mo(CN)3}6]. Alternatively, a cluster core may be substituted with cyano complexes as ligands, as in [PPh4]2[Fe4S4{NCW(CO)5}4]. If there are two cis cyano ligands on the building block, then quadrilateral or square structures often result, as in {CpFe(CO(μ-CN)2Cu(PCy3)}2 and [Fe2Cu2(bpy)6(μ-CN)4][PF6]4 However, if there are three adjacent cyano ligands, then cubic cages may be constructed as in [(CpCo)4(Cp*Rh)4(μ-CN)12][PF6]4.

Der Tod - gefürchtet oder ersehnt?

Lebensverlängernde Massnahmen auf der einen, begleiteter Suizid auf der anderen Seite: Mensch und Medizin greifen zunehmend in den Sterbeprozess ein. Wie beeinflussen Glaube und Jenseitsvorstellungen die Haltung zum Lebensende? Amira Hafner-Al Jabaji spricht mit Gästen aus drei Religionen. Die Frage, ob aktive Hilfe zum Suizid erlaubt sein soll, ist ein sensibles Thema. Bisher haben sich von religiöser Seite vor allem christliche Kirchen dazu kritisch vernehmen lassen. Doch wie sieht die Sicht auf den Tod und auf das Sterben in anderen Religionen aus? Was hat den Vorrang im Spannungsfeld von Selbstbestimmung und Schicksal, zwischen Patientenwillen und Gotteswillen, zwischen Möglichem und Wünschbarem am Ende des Lebens? Es diskutieren der muslimische Arzt und Philosoph Ilhan Ilkiliç, die evangelische Theologin und Religionspsychologin Isabelle Noth und der Sozialpädagoge und Zen-Buddhist Marco Röss.

Di landwirṭšafṭliche kevutze in Eretz-Jiśroel in jor 1920

Nir

Leksikon fun der judišer liṭeraṭur un prese

fun Zalman Reizen

Economías literarias en algunas ficciones argentinas del 2000 (Casas, Incardona, Cucurto y Mariano Llinás)

En el marco de las discusiones en torno al "valor" en tiempos de posautonomía, se diagrama un mapa que articula los diversos modos en que los textos narrativos de los poetas Fabián Casas, Washington Cucurto y Juan Diego Incardona, reinventan, singularmente, el imaginario populista (nostalgia barrial desplazada al vacío representacional de la experiencia zen; religación ideológica y política del sujeto colectivo; discurso revolucionario en clave de farsa y banalidad), a la vez que definen, desde esas inflexiones, tres economías ficcionales como tres posiciones en relación con el trabajo como uno de los nudos de la cultura del nuevo capitalismo: ocio, artesanía, y superproducción. La película Historias extraordinarias de Mariano Llinás constituye otra versión del modelo artesanal y, desde su particular economía, un acontecimiento narrativo en la ficción argentina del presente

Economías literarias en algunas ficciones argentinas del 2000 (Casas, Incardona, Cucurto y Mariano Llinás)

En el marco de las discusiones en torno al "valor" en tiempos de posautonomía, se diagrama un mapa que articula los diversos modos en que los textos narrativos de los poetas Fabián Casas, Washington Cucurto y Juan Diego Incardona, reinventan, singularmente, el imaginario populista (nostalgia barrial desplazada al vacío representacional de la experiencia zen; religación ideológica y política del sujeto colectivo; discurso revolucionario en clave de farsa y banalidad), a la vez que definen, desde esas inflexiones, tres economías ficcionales como tres posiciones en relación con el trabajo como uno de los nudos de la cultura del nuevo capitalismo: ocio, artesanía, y superproducción. La película Historias extraordinarias de Mariano Llinás constituye otra versión del modelo artesanal y, desde su particular economía, un acontecimiento narrativo en la ficción argentina del presente

Economías literarias en algunas ficciones argentinas del 2000 (Casas, Incardona, Cucurto y Mariano Llinás)

En el marco de las discusiones en torno al "valor" en tiempos de posautonomía, se diagrama un mapa que articula los diversos modos en que los textos narrativos de los poetas Fabián Casas, Washington Cucurto y Juan Diego Incardona, reinventan, singularmente, el imaginario populista (nostalgia barrial desplazada al vacío representacional de la experiencia zen; religación ideológica y política del sujeto colectivo; discurso revolucionario en clave de farsa y banalidad), a la vez que definen, desde esas inflexiones, tres economías ficcionales como tres posiciones en relación con el trabajo como uno de los nudos de la cultura del nuevo capitalismo: ocio, artesanía, y superproducción. La película Historias extraordinarias de Mariano Llinás constituye otra versión del modelo artesanal y, desde su particular economía, un acontecimiento narrativo en la ficción argentina del presente