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排序方式: 共有640条查询结果,搜索用时 17 毫秒
91.
Luke Mansard David Baux Christel Vach Catherine Blanchet Isabelle Meunier Marjolaine Willems Valrie Faugre Corinne Baudoin Melody Moclyn Julie Bianchi Helene Dollfus Brigitte Gilbert-Dussardier Delphine Dupin-Deguine Dominique Bonneau Isabelle Drumare Sylvie Odent Xavier Zanlonghi Mireille Claustres Michel Koenig Vasiliki Kalatzis Anne-Franoise Roux 《International journal of molecular sciences》2021,22(24)
Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two major causal genes involved in Usher type I, the most severe form, and type II, the most frequent form, respectively. Massively parallel sequencing was performed on a cohort of patients in the context of a molecular diagnosis to confirm clinical suspicion of Usher syndrome. We report here 231 pathogenic MYO7A and USH2A genotypes identified in 73 Usher type I and 158 Usher type II patients. Furthermore, we present the ACMG classification of the variants, which comprise all types. Among them, 68 have not been previously reported in the literature, including 12 missense and 16 splice variants. We also report a new deep intronic variant in USH2A. Despite the important number of molecular studies published on these two genes, we show that during the course of routine genetic diagnosis, undescribed variants continue to be identified at a high rate. This is particularly pertinent in the current era, where therapeutic strategies based on DNA or RNA technologies are being developed. 相似文献
92.
Axel Nechwatal Monika Nicolai Klaus-Peter Mieck Brigitte Heublein Gudrun Kühne Dieter Klemm 《大分子材料与工程》1999,271(1):84-92
The high wet fibrillation tendency of Lyocell fibres forms the background to this investigation. The wet abrasion behaviour can be improved by crosslinking reactions. Substances containing sulfato ethyl sulfonyl groups but different bridging groups were synthesised and optimised regarding to their application. The wet fibrillation tendency can be reduced clearly with these selected substances. If the concentration of the crosslinking agent on the fibre is the basis of comparisons the different structures have a similar effect on the fibrillation tendency. So the swollen Lyocell fibre permits a crosslinking reaction with curing agents of different size. 相似文献
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The reachability of a strongly connected network may be destroyed after link damage,Since many networds have directed links with the potential for reversal,the reachability may be restored by reversing the direction of links.In this paper,the reliability of a network that allows reversal of links in discussed. 相似文献
97.
Yasmine Boudida Mohammed Gagaoua Samira Becila Brigitte Picard Abdelghani Boudjellal Carlos H. Herrera-Mendez 《Critical reviews in food science and nutrition》2016,56(6):957-972
Since years, serine proteases and their inhibitors were an enigma to meat scientists. They were indeed considered to be extracellular and to play no role in postmortem muscle proteolysis. In the 1990's, we observed that protease inhibitors levels in muscles are a better predictor of meat tenderness than their target enzymes. From a practical point of view, we therefore choose to look for serine protease inhibitors rather than their target enzymes, i.e. serine proteases and the purpose of this report was to overview the findings obtained. Fractionation of a muscle crude extract by gel filtration revealed three major trypsin inhibitory fractions designed as F1 (Mr:50–70 kDa), F2 (Mr:40–60 kDa) and F3 (Mr:10–15kD) which were analyzed separately. Besides antithrombin III, an heparin dependent thrombin inhibitor, F1 and F2 comprised a large set of closely related trypsin inhibitors encoded by at least 8 genes bovSERPINA3-1 to A3-8 and able to inhibit also strongly initiator and effector caspases. They all belong to the serpin superfamily, known to form covalent complexes with their target enzymes, were located within muscle cells and found in all tissues and fluids examined irrespective of the animal species. Potential biological functions in living and postmortem muscle were proposed for all of them. In contrast to F1 and F2 which have been more extensively investigated only preliminary findings were provided for F3. Taken together, these results tend to ascertain the onset of apoptosis in postmortem muscle. However, the exact mechanisms driving the cell towards apoptosis and how apoptosis, an energy dependent process, can be completed postmortem remain still unclear. 相似文献
98.
Hellstern D Schulze K Schöpf B Petri-Fink A Steitz B Kamau S Hilbe M Koch-Schneidemann S Vaughan L Hottiger M Hofmann M Hofmann H von Rechenberg B 《Journal of nanoscience and nanotechnology》2006,6(9-10):3261-3268
PVA coated and fluorescent dye (Cy3.5) functionalized vinyl alcohol/vinyl amine copolymer coated superparamagnetic iron oxide nanoparticles (SPION) were evaluated for systemic distribution and elimination after intraarticular injection in sheep. Observation was done at 3, 24, 72, and 120 hours after injection using light microscopy, fluorescent microscopy, and confocal microscopy. No pathologic influence of SPION on the tissue harvested could be seen. A significantly increased iron content could be identified in the kidneys, lymph nodes, and spleen after injection of SPION. No particles were detected in the liver, the urinary, and the gall bladder. No positive fluorescent signal could be attributed to SPION throughout the organs. Our results indicated that the iron component of the SPION is possible to be incorporated into the physiologic iron metabolism after reabsorption in the proximal tubule system of the kidney and that concentration levels of Cy3.5 are too low to be detected throughout the body. 相似文献
99.
We present an in situ method for the selective manipulation of DNA-tagged nano-objects such as vesicles or gold colloids in aqueous solution, at neutral pH. The method makes use of the photosensitizer concept found in photodynamic therapy. Here, single-stranded DNA is immobilized onto a surface via the biotin/streptavidin linkage. If the streptavidin is fluorescently labeled, reactive species will be created during laser-induced photobleaching of the label. These reactive species can then completely or partly suppress the DNA hybridization and cause the removal of the streptavidin. The technique thereby enables a dynamic on–off control over surface density of immobilized DNA-tagged nano-objects. Furthermore, combining this in situ manipulation of DNA with prepatterning of single-stranded DNA in the micro and later in the nano range provides a means for the dynamic patterning required for applications in biosensing and nanotechnology. 相似文献
100.
An aerosol of green fluorescent protein-tagged Pseudomonas putida, created during high-pressure water cleaning of a coupon colonized by a biofilm of the green fluorescent protein bacterium, contaminated the water supply of an experimental setup. The upward spread of P. putida in a vertical pipe of supply water was 4.3 cm/day. Results highlight that a water supply to a food plant can be contaminated by an aerosol of environmental flora, created in typical cleaning operations, and become a reoccurring source of contamination. A practical response that could be taken in a food plant is briefly discussed. 相似文献