56 research outputs found

    WDR34, a candidate gene for non-syndromic rod-cone dystrophy

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    Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% to 70% of cases, with novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole-exome sequencing applied to a case of autosomal recessive non-syndromic RCD from a consanguineous union identified a homozygous variant in WDR34. Mutations in WDR34 have been previously associated with severe ciliopathy syndromes possibly associated with a retinal dystrophy. This is the first report of a homozygous mutation in WDR34 associated with non-syndromic RCD

    A review of applying second-generation wavelets for noise removal from remote sensing data.

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    The processing of remotely sensed data includes compression, noise reduction, classification, feature extraction, change detection and any improvement associated with the problems at hand. In the literature, wavelet methods have been widely used for analysing remote sensing images and signals. The second-generation of wavelets, which is designed based on a method called the lifting scheme, is almost a new version of wavelets, and its application in the remote sensing field is fresh. Although first-generation wavelets have been proven to offer effective techniques for processing remotely sensed data, second-generation wavelets are more efficient in some respects, as will be discussed later. The aim of this review paper is to examine all existing studies in the literature related to applying second-generation wavelets for denoising remote sensing data. However, to make a better understanding of the application of wavelet-based denoising methods for remote sensing data, some studies that apply first-generation wavelets are also presented. In the part of hyperspectral data, there is a focus on noise removal from vegetation spectrum

    A Combined Transcriptomics and Lipidomics Analysis of Subcutaneous, Epididymal and Mesenteric Adipose Tissue Reveals Marked Functional Differences

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    Depot-dependent differences in adipose tissue physiology may reflect specialized functions and local interactions between adipocytes and surrounding tissues. We combined time-resolved microarray analyses of mesenteric- (MWAT), subcutaneous- (SWAT) and epididymal adipose tissue (EWAT) during high-fat feeding of male transgenic ApoE3Leiden mice with histology, targeted lipidomics and biochemical analyses of metabolic pathways to identify differentially regulated processes and site-specific functions. EWAT was found to exhibit physiological zonation. De novo lipogenesis in fat proximal to epididymis was stably low, whereas de novo lipogenesis distal to epididymis and at other locations was down-regulated in response to high-fat diet. The contents of linoleic acid and α-linolenic acid in EWAT were increased compared to other depots. Expression of the androgen receptor (Ar) was higher in EWAT than in MWAT and SWAT. We suggest that Ar may mediate depot-dependent differences in de novo lipogenesis rate and propose that accumulation of linoleic acid and α-linolenic acid in EWAT is favored by testosterone-mediated inhibition of de novo lipogenesis and may promote further elongation and desaturation of these polyunsaturated fatty acids during spermatogenesis

    Cold-acclimation-induced non-shivering thermogenesis in birds is associated with upregulation of avian UCP but not with innate uncoupling or altered ATP efficiency

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    Despite their lack of brown adipose tissue, some bird species develop regulatory non-shivering thermogenesis (NST) of skeletal muscle origin in response to cold acclimation. Mechanisms involved in avian NST are still unclear but may involve reduced energetic coupling in skeletal muscle mitochondria through the expression of an avian homologue of mammalian uncoupling proteins. The aim of this work was to investigate whether the expression of avian uncoupling protein (avUCP) would correlate with the capacity for cold-induced muscle NST. Various levels of cold acclimation were obtained by rearing 1-week-old ducklings (Cairina moschata) for 4 weeks at three different ambient temperatures (25 degrees C, 11 degrees C or 4 degrees C). Muscle NST was measured by simultaneous recordings of metabolic rate and electromyographic activity (gastrocnemius muscle) at ambient temperatures (T(a)) ranging from 27 degrees C to -5 degrees C. The expression of avUCP gene and mitochondrial bioenergetics were also determined in gastrocnemius muscle. Results showed that muscle NST capacity depends on the T(a) at which ducklings were acclimated, i.e. the lower the rearing temperature, the higher the capacity for NST. This increased metabolic heat production occurred in parallel with an upregulation of avUCP, which was not associated with a change in mitochondrial membrane conductance. The intensity of mitochondrial oxidative phosphorylation also increased in proportion with the harshness of cold, while the efficiency of ATP generation was equally effective in all three acclimation temperatures. In the absence of mitochondrial uncoupling, these data indicate a clear link between avUCP expression and the capacity of ducklings to adjust their muscular aerobic activity to cold exposure

    Impact of a hydrogen economy on the stratosphere and troposphere studied in a 2-D model

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    A switch from a fossil fuel to a hydrogen-based energy system could cause significant changes in the magnitude and composition of anthropogenic emissions. Model simulations suggest the most significant impact of these emission changes would occur in the troposphere, affecting OH. This impact is dependent upon the magnitude and nature of trade-offs in changing fossil fuel use. In the stratosphere, changes in water vapour resulting from expected increases in surface molecular hydrogen emissions via leaks occurring during production, transport and storage, are found to be significantly smaller than previous estimates. We conclude that the expected increase in molecular hydrogen emissions is unlikely to have a substantial impact on stratospheric ozone, certainly much smaller than the ozone changes observed in the last two decades

    Trends in airglow imager observations near Adelaide, Australia

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    From April, 1995 to January, 1996 a nightglow imager and an airglow photometer were colocated near Adelaide, Australia. The data obtained on more than 50 clear nights revealed seasonal changes in the airglow intensities and temperatures as well as in the gravity wave activity. These temperature data are the first seasonal results from the mid-latitude southern hemisphere mesopause region. The OH Meinel band was observed to have a rotational temperature that was warmer than the O2 Atmospheric band in the winter. There were also summer solstice maxima and winter solstice minima in the O2 Atmospheric band and OI(557.7) airglow intensities. The gravity wave activity, seen in the 50 to 80 km horizontal wavelength waves, was generally greatest in the OH Meinel layer and showed a semiannual variation with a strong summer solstice maximum. The relationship between gravity wave activity and airglow intensities disagrees somewhat with models. Compared to previous studies, the data suggest that there may be a difference in the seasonal variability of short and long period gravity waves
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