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91.
Christine Vssing Marta Owczarek-Lipska Kerstin Nagel-Wolfrum Charlotte Reiff Christoph Jüschke John Neidhardt 《International journal of molecular sciences》2020,21(22)
X-chromosomal retinitis pigmentosa (RP) frequently is caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. We evaluated the potential of PTC124 (Ataluren, TranslamaTM) treatment to promote ribosomal read-through of premature termination codons (PTC) in RPGR. Expression constructs in HEK293T cells showed that the efficacy of read-through reagents is higher for UGA than UAA PTCs. We identified the novel hemizygous nonsense mutation c.1154T > A, p.Leu385* () causing a UAA PTC in RPGR and generated patient-derived fibroblasts. Immunocytochemistry of serum-starved control fibroblasts showed the RPGR protein in a dot-like expression pattern along the primary cilium. In contrast, RPGR was no longer detectable at the primary cilium in patient-derived cells. Applying PTC124 restored RPGR at the cilium in approximately 8% of patient-derived cells. RT-PCR and Western blot assays verified the pathogenic mechanisms underlying the nonsense variant. Immunofluorescence stainings confirmed the successful PTC124 treatment. Our results showed for the first time that PTC124 induces read-through of PTCs in RPGR and restores the localization of the RPGR protein at the primary cilium in patient-derived cells. These results may provide a promising new treatment option for patients suffering from nonsense mutations in RPGR or other genetic diseases. NM_000328.3相似文献
92.
Victoria L. Gremminger Charlotte L. Phillips 《International journal of molecular sciences》2021,22(9)
Bone and muscle are highly synergistic tissues that communicate extensively via mechanotransduction and biochemical signaling. Osteogenesis imperfecta (OI) is a heritable connective tissue disorder of severe bone fragility and recently recognized skeletal muscle weakness. The presence of impaired bone and muscle in OI leads to a continuous cycle of altered muscle–bone crosstalk with weak muscles further compromising bone and vice versa. Currently, there is no cure for OI and understanding the pathogenesis of the skeletal muscle weakness in relation to the bone pathogenesis of OI in light of the critical role of muscle–bone crosstalk is essential to developing and identifying novel therapeutic targets and strategies for OI. This review will highlight how impaired skeletal muscle function contributes to the pathophysiology of OI and how this phenomenon further perpetuates bone fragility. 相似文献
93.
94.
This study was conducted to assess the effect of the pulping by-products crude tall oil (CTO), distilled tall oil (DTO), and tall oil fatty acid (TOFA) on dynamic water vapor sorption behavior, interfiber strength, and thermal stability of cellulosic paper-sheets. The results were compared against those obtained in cellulose papers treated with the conventional petroleum-derived hydrophobic agent hydrowax and in untreated ones. The tall oil treatments caused strong reduction in equilibrium moisture content of the paper-sheets during adsorption and desorption runs. The same trend was noticed for the hydrowax-treated papers, however, it was less pronounced than the CTO-treated and DTO-treated samples in the relative humidity range of 75–95%. The sorption hysteresis was considerably decreased after the treatments. The ultimate dry-tensile strengths of the paper-sheets were significantly reduced by TOFA and hydrowax treatments, while CTO and DTO showed comparable strength as that of untreated control. The ultimate wet-strengths of the paper-sheets were improved after the treatments. The thermal stability of the specimens was improved by the tall oil treatments, and the hydrowax-treated samples illustrated lower degradation temperature than the untreated control. The results are promising for the use of tall oils as alternative hydrophobic agents of cellulosic fiber-based products, such as wood panels and paper packaging. © 2018 Wiley Periodicals, Inc. J. Appl. Polym. Sci. 2019 , 136, 47303. 相似文献
95.
Particulate matter (PM) 2.5 pollution is a prevalent environmental and public health issue that has raised serious global concerns. Because standard heating, ventilation, and air conditioning filters are incapable of filtering out PM 2.5 particles efficiently, different methods of PM 2.5 filtration, such as physical filtration and electrostatic filtration, are under investigation to develop a filter with a high filtration efficiency and a low pressure drop. According to various studies, pressure drop has a significant influence on the filtration efficiency. An equation for the theoretical trend was generated based on the composite data gathered from similar filtration studies and was used to evaluate the relationship between pressure drop and filtration efficiency. Here, the theoretical equation indicated that the filtration efficiency increased as the pressure drop on a filter increased until 0.01 psi where the efficiency remained near constant at approximately 99.9%. In this study, we introduce a graphite oxide (GO) and polyaniline (PANi) composite hybrid filter in order to create a low-pressure (1.2 psi) drop filter. By adding GO flakes to the PANi matrix, we not only produced a highly permeable filter while allowing continuous gas flow, but also achieved a remarkable and highly effective PM 2.5 filter with a filtration efficiency of 99.7 ± 0.08%. 相似文献
96.
Lin Yang Leyi Loh Dilip Krishna Nandakumar Wanheng Lu Mengqi Gao Xue Le Charlotte Wee Kaiyang Zeng Michel Bosman Swee Ching Tan 《Advanced materials (Deerfield Beach, Fla.)》2020,32(25):2000971
Unlike traditional water splitting in an aqueous medium, direct decomposition of atmospheric water is a promising way to simultaneously dehumidify the living space and generate power. Here, a tailored superhygroscopic hydrogel, a catalyst, and a solar cell are integrated into a humidity digester that can break down ambient moisture into hydrogen and oxygen, creating an efficient electrochemical cell. The function of the hydrogel is to harvest moisture from ambient humidity and transfer the collected water to the catalyst. Barium titanate and vertical 2D MoS2 nanosheets are integrated as the catalyst: the negatively polarized cathode can enhance the electron transport and attract H+ to the MoS2 surface for water reduction, while water oxidation takes place at the positively polarized anode. By employing this mechanism, it is possible to maintain the relative humidity in a medium-sized room at <60% without any additional energy input, and a stable current of 12.5 mA cm−2 is generated by the humidity digester when exposed to ambient light. 相似文献
97.
Gary Brierley Marc Tadaki Dan Hikuroa Brendon Blue Charlotte unde Jon Tunnicliffe Anne Salmond 《河流研究与利用》2019,35(10):1640-1651
The granting of rights to the Whanganui River in 2017 emerged as an outcome of Tribunal hearings relating to breaches of the Treaty of Waitangi, signed between Māori chiefs and the British Crown in 1840. As this expression of a river as having legal personhood with rights reflects a distinctively Māori perspective upon river systems, it offers the prospect for a new era of sociocultural approaches to river management in Aotearoa New Zealand. Using the Whanganui River as a case study, this paper explores prospective geomorphic meanings of river rights. The paper asks, “What role can geomorphology play in identifying, articulating and protecting the rights of a river?” Ancestral Māori relations to the river based upon mutual codependence (reciprocity) are juxtaposed against geomorphic understandings of a river's agency as expressed through self‐adjustment, diversity of form, evolution, and catchment‐scale connectivities. Relations between river science and indigenous concepts of rivers, framed under the auspices of river rights, present opportunities for different approaches to river management. 相似文献
98.
Maike Timm‐Heinrich Xuebing Xu Nina Skall Nielsen Charlotte Jacobsen 《European Journal of Lipid Science and Technology》2003,105(8):459-470
Milk drinks containing 5% traditional sunflower oil (SO), randomized lipid (RL) or specific structured lipid (SL) (both produced from SO and tricaprylin/caprylic acid) were compared with respect to their particle size, viscosity and oxidative stability during storage. Furthermore, the effect of adding potential antioxidants EDTA or gallic acid to the milk drink based on SL was investigated. The lipid type significantly affected the oxidative stability of the milk drinks: Milk drink based on SL oxidized faster than milk drink based on RL or SO. The reduced oxidative stability in the SL milk drink could not be ascribed to a single factor, but was most likely influenced by the structure of the lipid and differences in the process applied to produce and purify the lipids. EDTA was a strong antioxidant, while gallic acid did not exert a distinct antioxidative effect in the milk drink based on SL. 相似文献
99.
Terrell A. Vanderah Charlotte K. Lowe-Ma David R. Gagnon 《Journal of the American Ceramic Society》1994,77(12):3125-3130
LaAlO3 was chemically modified in order to ascertain the effects of substitution of larger cations on the compound's slight rhombohedral distortion from cubic symmetry—a property that often degrades the performance of LaAlO3 substrates for epitaxial high-temperature superconducting films. La1– x Sr x Al1– x Tix O3 (x = 0–05, 0.10, 0.15, 0.25),La1– x Srx Al1–x Zrx O3 , La1– x Sr x Al1–x Mgx O3–2x F 2x and La1– x ,Srx Al1– x Sc x O3– x (x = 0.05, 0.10, 0.15) were prepared in polycrystalline form and 1–2 mm single crystals of the Sr,Ti- and Sr,Zr-substituted systems were grown using a PbO–PbF2 –B2 O3 –PbO2 flux. Shifts in the peak positions of the X-ray powder diffraction patterns confirmed subsitution of the larger cations. The diffraction patterns were also typified by the line-broadening and the decrease in the rhombohedral splitting at all doping levels. The dielectric constant of LaAlO3 was unchanged for all of the fluoride-containing systems and for the 5% Sr, Ti- and Sr,Zr-systems. 相似文献
100.
Investigation of Lipid Oxidation in the Raw Materials of a Topical Skin Formulation: A Topical Skin Formulation Containing a High Lipid Content 下载免费PDF全文