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- Astuto, L. M., et al.
(författare)
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CDH23 mutation and phenotype heterogeneity : a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness
- 2002
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 71:2, s. 262-275
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type I is characterized by congenital hearing loss, retinitis pigmentosa (RP), and variable vestibular areflexia. Usher syndrome type ID, one of seven Usher syndrome type I genetic localizations, have been mapped to a chromosomal interval that overlaps with a nonsyndromic-deafness localization, DFNB12. Mutations in CDH23, a gene that encodes a putative cell-adhesion protein with multiple cadherin-like domains, are responsible for both Usher syndrome and DFNB12 nonsyndromic deafness. Specific CDH23 mutational defects have been identified that differentiate these two phenotypes. Only missense mutations of CDH23 have been observed in families with nonsyndromic deafness, whereas nonsense, frameshift, splice-site, and missense mutations have been identified in families with Usher syndrome. In the present study, a panel of 69 probands with Usher syndrome and 38 probands with recessive nonsyndromic deafness were screened for the presence of mutations in the entire coding region of CDH23, by heteroduplex, single-strand conformation polymorphism, and direct sequence analyses. A total of 36 different CDH23 mutations were detected in 45 families; 33 of these mutations were novel, including 18 missense, 3 nonsense, 5 splicing defects, 5 microdeletions, and 2 insertions. A total of seven mutations were common to more than one family. Numerous exonic and intronic polymorphisms also were detected. Results of ophthalmologic examinations of the patients with nonsyndromic deafness have found asymptomatic RP-like manifestations, indicating that missense mutations may have a subtle effect in the retina. Furthermore, patients with mutations in CDH23 display a wide range of hearing loss and RP phenotypes, differing in severity, age at onset, type, and the presence or absence of vestibular areflexia.
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- Gaur, A.P.S., et al.
(författare)
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Cold cathode emission studies on topographically modified few layer and single layer MoS2 films
- 2016
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Ingår i: Applied Physics Letters. - : AIP Publishing. - 0003-6951 .- 1077-3118. ; 108:4
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Tidskriftsartikel (refereegranskat)abstract
- Nanostructured materials, such as carbon nanotubes, are excellent cold cathode emitters. Here, we report comparative field emission (FE) studies on topographically tailored few layer MoS2films consisting of ⟨0001⟩ plane perpendicular (⊥) to c-axis (i.e., edge terminated vertically aligned) along with planar few layer and monolayer (1L) MoS2films. FE measurements exhibited lower turn-on field Eto (defined as required applied electric field to emit current density of 10 μA/cm2) ∼4.5 V/μm and higher current density ∼1 mA/cm2, for edge terminated vertically aligned (ETVA) MoS2films. However, Eto magnitude for planar few layer and 1L MoS2films increased further to 5.7 and 11 V/μm, respectively, with one order decrease in emission current density. The observed differences in emission behavior, particularly for ETVA MoS2 is attributed to the high value of geometrical field enhancement factor (β), found to be ∼1064, resulting from the large confinement of localized electric field at edge exposed nanograins. Emission behavior of planar few layers and 1L MoS2films are explained under a two step emission mechanism. Our studies suggest that with further tailoring the microstructure of ultra thin ETVA MoS2films would result in elegant FE properties.
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- Morell, M. L., et al.
(författare)
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Viperin exerts antiviral function against Junin mammarenavirus at different subcellular localizations
- 2017
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Ingår i: Molecular Biology of the Cell. - : The American Society for Cell Biology. - 1059-1524 .- 1939-4586.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Junín arenavirus infections are associated with high levels of interferons in both severe and fatal cases. Upon Junín virus (JUNV) infection a cell signaling cascade initiates, that ultimately attempts to limit viral replication and prevent infection progression through the expression of host antiviral proteins. The interferon stimulated gene (ISG) viperin has drawn our attention as it has been highlighted as an important antiviral protein against several viral infections. The studies of the mechanistic actions of viperin have described important functional domains relating its antiviral and immune‐modulating actions through cellular lipid structures. In line with this, through silencing and overexpression approaches, we have identified viperin as an antiviral ISG against JUNV. In addition, we found that lipid droplet structures are modulated during JUNV infection, suggesting its relevance for proper virus multiplication. Furthermore, our confocal microscopy images, bioinformatics and functional results also revealed viperin‐JUNV protein interactions that might be participating in this antiviral pathway at lipid droplet level. Altogether, these results will help to better understand the factors mediating innate immunity in arenavirus infection and may lead to the development of pharmacological agents that can boost their effectiveness thereby leading to new treatments for this viral disease.
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- Asztalos Morell, Ildikó, 1958-, et al.
(författare)
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Silence or voice? : Agency freedom among elderly women living in extended families in urban India
- 2020
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Ingår i: International Journal of Environmental Research and Public Health. - : MDPI AG. - 1661-7827 .- 1660-4601. ; 17:23, s. 1-18
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Tidskriftsartikel (refereegranskat)abstract
- The preferential form of living for the elderly in India is within the extended family. India is undergoing rapid economic development, an increase in mobility, and changes in gender norms due to an increase in women’s labour force participation, which places challenges on traditional intergenerational relationships. Ageing and the well-being of the elderly is a rising concern, especially considering that their proportion of the population is expected to grow rapidly in coming decades. There is a lack of universal state provision for the elderly’s basic needs, which is especially profound for elderly women, since most do not have an independent income. This leaves the elderly dependent upon the benevolence of their adult children’s families or other relatives. This paper explores, with help of narrative analysis and critical contributions from capability theory, elderly women’s agency freedoms and how this can be contextualised with their varying capability sets. With help of Spivak’s notion of the silent subaltern, the paper anchors elderly women’s abilities to voice to their agency freedom. The master narrative of the silent supportive wife and side-lined mother-in-law as well as three counter-narratives explore alternative agencies taken by elderly women.
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- Benedict, Christian, et al.
(författare)
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Acute Sleep Deprivation Enhances the Brain's Response to Hedonic Food Stimuli : An fMRI Study
- 2012
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 97:3, s. E443-447
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Tidskriftsartikel (refereegranskat)abstract
- Context:There is growing recognition that a large number of individuals living in Western society are chronically sleep deprived. Sleep deprivation is associated with an increase in food consumption and appetite. However, the brain regions that are most susceptible to sleep deprivation-induced changes when processing food stimuli are unknown.Objective:Our objective was to examine brain activation after sleep and sleep deprivation in response to images of food.Intervention:Twelve normal-weight male subjects were examined on two sessions in a counterbalanced fashion: after one night of total sleep deprivation and one night of sleep. On the morning after either total sleep deprivation or sleep, neural activation was measured by functional magnetic resonance imaging in a block design alternating between high- and low-calorie food items. Hunger ratings and morning fasting plasma glucose concentrations were assessed before the scan, as were appetite ratings in response to food images after the scan.Main Outcome Measures:Compared with sleep, total sleep deprivation was associated with an increased activation in the right anterior cingulate cortex in response to food images, independent of calorie content and prescan hunger ratings. Relative to the postsleep condition, in the total sleep deprivation condition, the activation in the anterior cingulate cortex evoked by foods correlated positively with postscan subjective appetite ratings. Self-reported hunger after the nocturnal vigil was enhanced, but importantly, no change in fasting plasma glucose concentration was found.Conclusions:These results provide evidence that acute sleep loss enhances hedonic stimulus processing in the brain underlying the drive to consume food, independent of plasma glucose levels. These findings highlight a potentially important mechanism contributing to the growing levels of obesity in Western society.
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- Bignon, E., et al.
(författare)
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Ibuprofen and ketoprofen potentiate UVA-induced cell death by a photosensitization process
- 2017
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Nonsteroidal 2-arylproprionic acids are widely used, over-the-counter, anti-inflammatory drugs. Photosensitivity is a commonly overlooked adverse effect of these drugs. Based on the combined use of cell viability assays and molecular modeling, we prove and rationalize the photochemical pathways triggering photosensitization for two drugs, ibuprofen and ketoprofen. As its parent compound benzophenone, ketoprofen produces singlet oxygen, upon triplet manifold population. However, ibuprofen and ketoprofen photodissociate and hence may generate two highly reactive radicals. The formation of metastable aggregates between the two drugs and B-DNA is also directly probed by molecular dynamics. Our approach characterizes the coupled influence of the drug's intrinsic photochemistry and the interaction pattern with DNA. The photosensitization activity of nonsteroidal 2-arylproprionic acids, being added to gels and creams for topical use, should be crucially analyzed and rationalized to enact the proper preventive measures.
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