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showing 10 items of 10618 documents
Genetic and Chemical Modifiers Of A CUG Toxicity Model in Drosophila
2007
Non-coding CUG repeat expansions interfere with the activity of human Muscleblind-like (MBNL) proteins contributing to myotonic dystrophy 1 (DM1). To understand this toxic RNA gain-of-function mechanism we developed a Drosophila model expressing 60 pure and 480 interrupted CUG repeats in the context of a non-translatable RNA. These flies reproduced aspects of the DM1 pathology, most notably nuclear accumulation of CUG transcripts, muscle degeneration, splicing misregulation, and diminished Muscleblind function in vivo. Reduced Muscleblind activity was evident from the sensitivity of CUG-induced phenotypes to a decrease in muscleblind genetic dosage and rescue by MBNL1 expression, and furthe…
Sp1 transcription factor interaction with accumulated prelamin a impairs adipose lineage differentiation in human mesenchymal stem cells: essential r…
2012
Abstract Lamin A (LMNA)-linked lipodystrophies may be either genetic (associated with LMNA mutations) or acquired (associated with the use of human immunodeficiency virus protease inhibitors [PIs]), and in both cases they share clinical features such as anomalous distribution of body fat or generalized loss of adipose tissue, metabolic alterations, and early cardiovascular complications. Both LMNA-linked lipodystrophies are characterized by the accumulation of the lamin A precursor prelamin A. The pathological mechanism by which prelamin A accumulation induces the lipodystrophy associated phenotypes remains unclear. Since the affected tissues in these disorders are of mesenchymal origin, we…
WRN protects against topo I but not topo II inhibitors by preventing DNA break formation
2008
The Werner syndrome helicase/3′-exonuclease (WRN) is a major component of the DNA repair and replication machinery. To analyze whether WRN is involved in the repair of topoisomerase-induced DNA damage we utilized U2-OS cells, in which WRN is stably down-regulated (wrn-kd), and the corresponding wild-type cells (wrn-wt). We show that cells not expressing WRN are hypersensitive to the toxic effect of the topoisomerase I inhibitor topotecan, but not to the topoisomerase II inhibitor etoposide. This was shown by mass survival assays, colony formation and induction of apoptosis. Upon topotecan treatment WRN deficient cells showed enhanced DNA replication inhibition and S-phase arrest, whereas af…
Substrate specificity overlap and interaction between Adrenoleukodystrophy protein (ALDP/ABCD1) and Adrenoleukodystrophy-related protein (ALDRP/ABCD2)
2011
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes a peroxisomal member of the ATP-binding cassette (ABC) transporter subfamily D called ALDP. ALDP is supposed to function as a homodimer allowing the entry of CoA-esters of very-long chain fatty acids (VLCFA) into the peroxisome, the unique site of their β-oxidation. ALDP deficiency can be corrected by overexpression of ALDRP, its closest homolog. However, the exact nature of the substrates transported by ALDRP and its relationships with ALDP still remain unclear. To gain insight into the function of ALDRP, we used cell models allowing the induction in a dose-dependent m…
Langer-Giedion syndrome with interstitial 8q-deletion.
1982
We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.
Mercedes Fórmica, ou les tentatives d’une avocate phalangiste pour réformer le code civil franquiste
2016
La crítica actual cuestiona la paradójica lucha de Mercedes Fórmica, abogada y novelista falangista que denunció por sus escritos las consecuencias dramáticas de ciertos artículos de los Códigos civil y penal del franquismo. Nuestro análisis de los textos de Fórmica nos lleva a discutir el término feminista que se le suele asociar. El artículo que publica en 1953 en el diario ABC denuncia ciertamente las injusticias sufridas por las mujeres, la novela A instancia de parte muestra que un marido malintencionado puede valerse de la ley para conseguir la condena inmerecida de su esposa por adulterio. Pero los propósitos siguen ambiguos y la imagen de la mujer plagada de estereotipos. El peso de…
Images of the other in Finnish primary school geography books
2016
Jatkuvasti kansainvälistyvässä maailmassa, jossa kulttuurienvälisillä kohtaamisilla voi olla kauaskantoisiakin seurauksia, on tärkeää olla tietoinen taustalla vaikuttavista asenteista. Tässä tutkielmassa kartoitetaan kuvaa, joka suomalaisissa viidennen ja kuudennen luokan maantiedon oppikirjoissa annetaan ihmisistä Euroopan ulkopuolella. Tutkielma on tehty sisällönanalyysin keinoin. Selkeiden stereotyyppisten kuvien lisäksi pyritään löytämään myös piileviä, vähemmän selviä stereotypioita. Stereotypioiden lisäksi myös alueista, kansoista tai muista ihmisryhmistä annetut kokonaiskuvat ovat tutkimuksen kohteena. Analysoitujen oppikirjojen välillä oli merkittäviäkin eroja sekä sisällössä, että …
Does Organizational Work-Family Support Benefit Temporary and Permanent Employees Equally in a Work-Family Conflict Situation in Relation to Job Sati…
2016
This study examined whether work–family support (WF support) buffers permanent and temporary workers similarly against the negative effects of work–family conflict as regard job satisfaction and emotional energy level at work and at home. A total of 1,719 Finnish nurses participated in this study in 2009. The results revealed that high coworker WF support protected temporary workers against the negative effects of high work–family conflict on emotional energy at work. Furthermore, temporary workers with low coworker WF support were at greater risk of job dissatisfaction and diminished emotional energy at home than were their permanent colleagues in the presence of high work–family conflict…
Fixed point results in cone metric spaces
2010
We prove a result on points of coincidence and common fixed points for three self mappings satisfying a weak generalized contractive type condition in cone metric spaces. We deduce some results on common fixed points for two self mappings satisfying a weak contractive type condition in cone metric spaces. This results generalize some well-known recent results.
On fixed points of Berinde’s contractive mappings in cone metric spaces
2010
In this paper we establish some common fixed point theorems for two self-mappings satisfying a generalized contractive condition. This result generalizes well known comparable results in the literature. As an application, a necessary and sufficient condition for a fixed point to be a periodic point for the mapping involved therein, without appealing to continuity, in a cone metric space is established.