Search results for "WES"
showing 10 items of 1585 documents
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
2014
Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)(1-3). Here we report that individuals with MPPH lacking upstream PI3K-AKT pathway mutations carry de novo mutations in CCND2 (encoding cyclin D2) that are clustered around a residue that can be phosphorylated by glycogen synthase kinase 313 (GSK-3 beta)(4). Mutant CCND2 was resistant to proteasomal degradation in vitro compared to wild-type CCND2. The PI3K-AKT pathway modulates GSK-3 beta activity(4), and cells from individuals with PIK3CA, PIK3R2 or AKT3 mutations showed similar CCND2 accumulation. CCND…
Development of an in vitro neuroblastoma 3D model and its application for sterigmatocystin-induced cytotoxicity testing
2021
Abstract Given the increasing importance of establishing better risk assessments for mycotoxins, novel in vitro tools for the evaluation of their toxicity are mandatory. In this study, an in vitro 3D spheroid model from SH-SY5Y cells, a human neuroblastoma cell line, was developed, optimized and characterized to test the cytotoxic effects caused by the mycotoxin sterigmatocystin (STE). STE induced a concentration- and time-dependent cell viability decrease in spheroids. Spheroids displayed cell disaggregation after STE exposure, increasing in a dose-dependent manner and over time. STE also induced apoptosis as confirmed by immunofluorescence staining and Western blot. Following the decrease…
Melatonin stimulates the nonamyloidogenic processing ofβAPP through the positive transcriptional regulation of ADAM10 and ADAM17
2014
Melatonin controls many physiological functions including regulation of the circadian rhythm and clearance of free radicals and neuroprotection. Importantly, melatonin levels strongly decrease as we age and patients with Alzheimer's disease (AD) display lower melatonin than age-matched controls. Several studies have reported that melatonin can reduce aggregation and toxicity of amyloid-β peptides that are produced from the β-amyloid precursor protein (βAPP). However, whether melatonin can directly regulate the βAPP-cleaving proteases ('secretases') has not been investigated so far. In this study, we establish that melatonin stimulates the α-secretase cleavage of βAPP in cultured neuronal an…
Influence of nerve growth factor in endometriosis-associated symptoms
2011
To investigate the role of the nerve growth factor (NGF) in the development of dysmenorrhea/pelvic pain in patients with endometriosis, we performed a prospective, clinical, blind study. Peritoneal fluids (PFs) were obtained from patients with histologically proven endometriosis. Patients with endometriosis were divided into 7 different groups depending on their preoperative pain score and symptomatology: patients with no pain, patients with minimal pain (dysmenorrhea, pelvic pain, or both), and patients with severe pain (dysmenorrhea, pelvic pain, or both) and were used for the neuronal growth assay with cultured chicken dorsal root ganglia (DRG) and for Western blot analyses. Dorsal root …
Comparing the Climatic and Landscape Risk Factors for Lyme Disease Cases in the Upper Midwest and Northeast United States
2020
Lyme disease, recognized as one of the most important vector-borne diseases worldwide, has been increasing in incidence and spatial extend in United States. In the Northeast and Upper Midwest, Lyme disease is transmitted by Ixodes scapularis. Currently, many studies have been conducted to identify factors influencing Lyme disease risk in the Northeast, however, relatively few studies focused on the Upper Midwest. In this study, we explored and compared the climatic and landscape factors that shape the spatial patterns of human Lyme cases in these two regions, using the generalized linear mixed models. Our results showed that climatic variables generally had opposite correlations with Lyme d…
Estradiol deficiency and skeletal muscle apoptosis: Possible contribution of microRNAs.
2020
Background Menopause leads to estradiol (E2) deficiency that is associated with decreases in muscle mass and strength. Here we studied the effect of E2 deficiency on miR-signaling that targets apoptotic pathways. Methods C57BL6 mice were divided into control (normal estrous cycle, n = 8), OVX (E2 deficiency, n = 7) and OVX + E2 groups (E2-pellet, n = 4). Six weeks following the OVX surgery, mice were sacrificed and RNA isolated from gastrocnemius muscles. miR-profiles were studied with Next-generation sequencing (NGS) and candidate miRs verified using qPCR. The target proteins of the miRs were found using in silico analysis and measured at mRNA (qPCR) and protein levels (Western blot). Resu…
Representing Tibetan Buddhism in books on spirituality : A discourse-historical approach
2022
This article looks into how Tibetan Buddhism is framed in terms of East-West dichotomy in six popular books on Buddhism and spirituality. Discourse Historical Approach is employed to uncover the rhetorical representation of Tibetan Buddhism to the readers. A critical post-colonial perspective offers an insight into various power dynamics, arising from these representations, structured according to Yoshikawa's model of intercultural communication between East and West. The various power outcomes of rhetorical styles range from Ethnocentric to Dialogical, with their ethical consequences and problematics discussed.
Photographic anthropological portraits in British scientific journals 1860-1930
2015
International audience
Effetti del pascolamento della sulla e/o della loiessa per 8 o 24 ore sul comportamento alimentare e sulla produzione lattiero-casearia di pecore Com…
2008
This experiment aimed to examine the effects of the utilization of monocultures of ryegrass (R), sulla (S) or both of them (RS), and the prolongation of daily grazing from 8 h (8:00-16:00) to 24 h, evaluating behaviour, selectivity, intake and milk and cheese production of ewes at pasture. The experiment involved 42 Comisana ewes averaging 146±55 days in milk, divided into 6 homogeneous groups which, since 19th April for 42 days, continuously grazed under a stocking rate of 34 ewes/ha. Ewes involving in eating activity were higher in R and for 24-h grazing, in relation to lower intake rate. RS ewes reduced eating time and increased lying activity. During daytime, the eating gradually decrea…
Approche d'un territoire de montagne : occupations humaines et contexte pédo-sédimentaire des versants du col du Petit-Saint-Bernard, de la Préhistoi…
2014
As part of a multi-year programme, survey campaigns have been carried out on both slopes of the Petit-Saint-Bernard pass (2188 m, western Alps), at an altitude of between 750 and 3000 m. The method employed abandons ground-based surveying in favour of multiple manual surveys carried out on selected topographic contexts down to the base of the Holocene fill. The results obtained document the longterm development of the pedo-sedimentary dynamic and the occupation of the different altitude stages. The significance of the archaeological data collected is discussed in relation to the state of knowledge in a comparison area including the neighbouring valleys of the western Alps, to existing settl…