Search results for "genetics [Transcriptome]"
showing 10 items of 3033 documents
Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules.
2004
AbstractPolyglutamine expansion (polyQ) in the protein huntingtin is pathogenic and responsible for the neuronal toxicity associated with Huntington's disease (HD). Although wild-type huntingtin possesses antiapoptotic properties, the relationship between the neuroprotective functions of huntingtin and pathogenesis of HD remains unclear. Here, we show that huntingtin specifically enhances vesicular transport of brain-derived neurotrophic factor (BDNF) along microtubules. Huntingtin-mediated transport involves huntingtin-associated protein-1 (HAP1) and the p150Glued subunit of dynactin, an essential component of molecular motors. BDNF transport is attenuated both in the disease context and b…
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
2015
Enzyme replacement therapy (ERT) has been shown to improve outcome in classical infantile Pompe disease. The purpose of this study was to assess mortality, morbidity, and shortcomings of ERT in a larger cohort of patients treated outside clinical trials. To accomplish this, we retrospectively analyzed the data of all 23 subjects with classical infantile Pompe disease having started ERT in Germany between January 2003 and December 2010.Ten patients (43%) deceased and four others (17%) became ventilator dependent. Seven infants (30.5%) made no motor progress at all, while seven (30.5%) achieved free sitting, and nine (39%) gained free walking. Besides all the seven patients (100%) attaining n…
Correction: Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotoni…
2018
ABSTRACT Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (DMPK) transcripts containing expanded CUG repeats. Pathogenic DMPK RNA sequesters the muscleblind-like (MBNL) proteins, causing alterations in metabolism of various RNAs. Cardiac dysfunction represents the second most common cause of death in DM type 1 (DM1) patients. However, the contribution of MBNL sequestration in DM1 cardiac dysfunction is unclear. We overexpressed Muscleblind (Mbl), the Drosophila MBNL orthologue, in cardiomyocytes of DM1 model flies and observed a rescue of heart dysfunctions, which are characteristic of these model flies and resem…
Evaluation of the risk factors of asymptomatic vertebral fractures in postmenopausal women with osteopenia at the femoral neck
2016
To identify risk factors of asymptomatic vertebral fracture (aVF) in postmenopausal women with osteopenia at the femoral neck and to evaluate the association between the number of aVFs and the risk of major and hip osteoporotic fracture calculated with the FRAX(®) algorithm.Epidemiological case-series study with data collected transversally.728 postmenopausal women with osteopenia were included: 284 (39.0%) had aVF, of whom 200 (70.4%) had prior fragility fractures (FF). The likelihood of having an osteoporotic fracture in the next 10 years increased significantly with the number of aVF. The percentage of women with height loss, which was assessed as the difference between the greatest heig…
Predator mimicry, not conspicuousness, explains the efficacy of butterfly eyespots
2015
Large conspicuous eyespots on butterfly wings have been shown to deter predators. This has been traditionally explained by mimicry of vertebrate eyes, but recently the classic eye-mimicry hypothesis has been challenged. It is proposed that the conspicuousness of the eyespot, not mimicry, is what causes aversion due to sensory biases, neophobia or sensory overloads. We conducted an experiment to directly test whether the eye-mimicry or the conspicuousness hypothesis better explain eyespot efficacy. We used great tits ( Parus major ) as model predator, and tested their reaction towards animated images on a computer display. Birds were tested against images of butterflies without eyespots, wi…
Effect of Pulp Pigmentation Intensity on Consumer Acceptance of New Blood Mandarins: A Cross-Cultural Study in Spain and Italy
2022
One of the current objectives of different citrus breeding programmes is obtaining new pigmented mandarins. This study investigates to what extent consumer preferences, expectations and purchase intention are affected by the appearance of new mandarins, specifically pulp pigmentation intensity. Four hundred consumers from both Italy and Spain (800 in all) participated in the study. In each country, half were informed about the healthy properties of the anthocyanins responsible for red pulp colouration, while the other half were not. Italians more readily accepted new mandarin varieties than Spaniards, which was linked to them being more familiar with blood oranges. In Italy, both slight- an…
(Ré)concilier éclairage urbain et environnement nocturne : les enjeux d’une controverse sociotechnique
2014
International audience; Our paper explains the birth of an environmental problem, i.e. light pollution, viewed as a socio-technical controversy. Supported by the actor-network approach, it traces over forty years the conditions of its emergence, transformation and dissemination to local, national and transnational levels and through various professional disciplines. Schematically, “environmentalists” uphold a holistic approach of “nocturnality” and define artificial light as a pollutant. Facing them, the “technicist” defends a segmented approach and defines artificial light as a nuisance. The introduction of this controversy into the political agenda leads to institutional decisions that gr…
COVID-19 and the Pancreas: A Narrative Review.
2022
The outbreak of COVID-19, initially developed in China in early December 2019, has rapidly spread to other countries and represents a public health emergency of international concern. COVID-19 has caused great concern about respiratory symptoms, but it is worth noting that it can also affect the gastrointestinal tract. However, the data on pancreatic involvement during SARS-CoV-2 infection are limited. The prevalence and severity of pancreatic damage and acute pancreatitis, as well as its pathophysiology, are still under debate. Moreover, the possible implication of pancreatic damage as an apparent adverse effect of COVID-19 therapies or vaccines are issues that need to be addressed. Finall…
The Role of 3D-Printed Custom-Made Vertebral Body Implants in the Treatment of Spinal Tumors: A Systematic Review
2022
In spinal surgery, 3D prothesis represents a useful instrument for spinal reconstruction after the removal of spinal tumors that require an “en bloc” resection. This represents a complex and demanding procedure, aiming to restore spinal length, alignment and weight-bearing capacity and to provide immediate stability. Thus, in this systematic review the authors searched the literature to investigate and discuss the advantages and limitations of using 3D-printed custom-made vertebral bodies in the treatment of spinal tumors. A systematic literature review was conducted following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) statement, with no limits in terms …
Tuning the Photoresponse of Nano‐Heterojunction: Pressure‐Induced Inverse Photoconductance in Functionalized WO 3 Nanocuboids
2019
S.R. and S.S. contributed equally to this work. This work was mainly supported by the Natural Science Foundation of China (Grant No. 11874076), National Science Associated Funding (NSAF, Grant No. U1530402), and Science Challenging Program (Grant No. TZ2016001). D.E. thanks the financial support from Spanish MINECO under Grant No. MAT2016-75586-C4-1-P and from Generalitat Valenciana under Grant Prometeo/2018/123, EFIMAT. The X-ray diffraction measurements were performed at the BL15U1 station, Shanghai Synchrotron Radiation Facility (SSRF) in China. The HP XAS measurements were performed at 20 ID-C, APS, ANL. APS is supported by DOE-BES, under contract no. DE-AC02-06CH11357. The authors grat…