Search results for "DELE"

Deficiency of the Cockayne syndrome B (CSB) gene aggravates the genomic instability caused by endogenous oxidative DNA base damage in mice.

2007

The Cockayne syndrome B protein (CSB) has long been known to be involved in the repair of DNA modifications that block the RNA polymerase in transcribed DNA sequences (transcription-coupled repair). Recent evidence suggests that it also has a more general role in the repair of oxidative DNA base modifications such as 7,8-dihydro-8-oxo-2'-deoxyguanosine (8-oxoG). In mammalian cells, 8-oxoG is a substrate of the repair glycosylase OGG1. Mice without this enzyme accumulate 8-oxoG in the genome and have elevated spontaneous mutation rates. To elucidate the role of CSB in the prevention of mutations by oxidative DNA base damage, we have generated mice that are deficient in Csb or Ogg1 or both ge…

4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization

2014

Abstract Background Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. Methods/results We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. Conclusio…

Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments

2004

The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH syndrome, two autosomal recessive disorders, characterised by moderate to severe sensorineural hearing loss and retinitis pigmentosa (RP). Furthermore, the C759F mutation in the USH2A gene has been described in 4.5% of patients with nonsyndromic recessive RP. We have investigated the presence of the 2299delG and/or the C759F mutations in 191 unrelated Spanish patients with different syndromic and nonsyndromic retinal diseases, or with nonsyndromic hearing impairment. The 2299delG mutation was observed in patients with clinical signs of USHII or of atypical USH sy…

Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype

2015

The unconventional myosin VI, a member of the actin-based motor protein family of myosins, is expressed in the retina. Its deletion was previously shown to reduce amplitudes of the a- and b-waves of the electroretinogram. Analyzing wild-type and myosin VI-deficient Snell’s Waltzer mice in more detail, the expression pattern of myosin VI in retinal pigment epithelium, outer limiting membrane, and outer plexiform layer could be linked with differential progressing ocular deficits. These encompassed reduced a-waves and b-waves and disturbed oscillatory potentials in the electroretinogram, photoreceptor cell death, retinal microglia infiltration, and formation of basal laminar deposits. A pheno…

Vintage violence. La strana violenza del cinema di Losey

2015

Los textos sobre la violencia tienden a dar por sentado este concepto. En este artículo se intentará esbozar una definición semiótica a través de una breve relectura de algunos clásicos y de algunas entradas de vocabulario, para sugerir una caracterización de la violencia como dispositivo semiótico: una articulación de dos figuras diferentes de agresión («laceración»/«constricción») contra un umbral convencional. Esta hipótesis se desarrolla en el análisis de las películas de Joseph Losey, donde la violencia aparece de muchas formas, pero nunca llega a ser (con raras excepciones) totalmente explícita o espectacular. El artículo reconsidera el análisis de Gilles Deleuze en L’Image-Mouvement,…

Gilles Deleuze. La fragmentación del individuo en la "sociedad de control"

2009

La sociedad en la cual vivimos hoy día es una sociedad de control. La crisis generalizada de los “centros de encierro” (familia, escuela, ejército, fábrica, hospital, cárcel, etc.) apunta, de hecho, a la emergencia de nuevas fuerzas que conllevan el que “las sociedades disciplinarias [sean] nuestro pasado inmediato, lo que estamos dejando de ser” . Tal es el diagnóstico que establece Deleuze, siguiendo a Foucault. Sin embargo, hemos de reconocer que la sociedad de control, en tanto que objeto de reflexión propiamente filosófica, no encuentra en aquél un tratamiento conceptual al que suele estar acostumbrado su lector. Pues el tránsito reciente de las sociedades disciplinarias a la sociedad …

Le condizioni dell'esperienza reale. Gilles Deleuze e l'empirismo trascendentale

2012

Bergson ja naurun yhteisöllinen jännite

2021

Artikkelissa selvitetään Henri Bergsonin nauruteoriaa teoksessa Nauru ja arvioidaan sen merkitystä osana Bergsonin filosofiaa yleisemmin. Lisäksi artikkelissa täydennetään Bergsonin nauruteoriaa Gilles Deleuzen, Baruch Spinozan ja Friedrich Nietzschen ajatusten pohjalta. Bergson analysoi teoksessa komiikan synnyttämää naurua ja näkee tämän elämän reaktiona sitä kangistavia taipumuksia vastaan. Elämän luovan mukautumisen ja sen kangistumisen välisestä jännitteestä käytetään artikkelissa nimitystä ”koominen jännite”. Nauru on Bergsonin mukaan olennaisesti inhimillinen ja yhteisöllinen ilmiö, joka huomauttaa jäsenilleen yhteisön elämän kannalta haitallisista poikkeamista. Komiikka on tämän kor…

Identification of Two Mannoproteins Released from Cell Walls of a Saccharomyces cerevisiae mnn1 mnn9 Double Mutant by Reducing Agents

1999

The cell wall of Saccharomyces cerevisiae represents some 30% of the total weight of the cell and is made up of β-glucans, mannose-containing glycoproteins (mannoproteins), and small amounts of chitin (9, 15). The mannoproteins can be divided into three groups according to the linkages that bind them to the structure of the cell wall: (i) noncovalently bound, (ii) covalently bound to the structural glucan, and (iii) disulfide bound to other proteins that are themselves covalently bound to the structural glucan of the cell wall (8). Our work has focused on the disulfide-bound mannoproteins, probably the least well known of the three groups mentioned above. Previous work (25) showed that trea…

Service public d’eau en régie : vers une gouvernance efficace ?

2021

In the French water sector, some large cities have put an end to public service delegations entrusted to private operators and have chosen to return in public control, which may seem surprising in view of the new public management advocating the private sector model. In a water sector, a “natural monopoly” marked by strong moral hazard, information asymmetries and many uncertainties, public service delegations continue to raise serious governance issues both theoretically and empirically, despite more restrictive regulations. A three-year intervention-research in a new régie, public operator, contributed to the implementation of management tools. The multiple data collected (documents, inte…