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51.
Vasily Smirnov Olivier Grunewald Jean Muller Christina Zeitz Carolin D. Obermaier Aurore Devos Valrie Pelletier Batrice Bocquet Camille Andrieu Jean-Louis Bacquet Elodie Lebredonchel Saddek Mohand-Saïd Sabine Defoort-Dhellemmes Jos-Alain Sahel Hlne Dollfus Xavier Zanlonghi Isabelle Audo Isabelle Meunier Elise Boulanger-Scemama Claire-Marie Dhaenens 《International journal of molecular sciences》2021,22(12)
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5-associated patients might be due to the presence of additional gene defects. 相似文献
52.
Elise E. Switzer Tim S. Olson Plamen Atanassov Christopher J. Cornelius 《Electrochimica acta》2009,54(3):989-8003
In this work, we have investigated an aerosol-derived templated electrocatalyst for electro-oxidation of small organic molecules in alkaline media. Templated Pt-Sn electrocatalysts are compared to templated Pt catalysts both synthesized in an aerosol synthesis technique. In this synthesis approach, mono-disperse silica nanoparticles are used to template the metallic precursors. Structural and compositional analysis of the nanostructured materials are performed by scanning electron microscopy (SEM), transmission electron microscopy (TEM), X-ray diffraction (XRD) and BET surface area measurements. The aerosol-derived templated electrocatalysts are examined in conjunction with an anion exchange ionomer for ethanol, methanol and CO oxidation in alkaline media. The electrochemical studies include cyclic voltammetry, chronoamperometry and voltammetric adsorption of adsorbed CO. 相似文献
53.
54.
Addresses the relational dynamic of merging in lesbian couples from an object relations perspective. It is contended that merging in lesbian couples does exist, that it is a function of the fact that 2 women are relating to each other, and that preoedipal gender differences in the intrapsychic process of separation–individuation account for this pattern. It is suggested that gay male couples manifest the opposite pattern—emotional distancing—and that the determining factor is gender not homosexuality. Different patterns in lesbian and gay male couples illustrate crucial gender issues for both homosexuals and heterosexuals, and sex differences in separation–individuation and adult love relationships are discussed. It is concluded that the general nature of each sex's ego development affects the overall pattern of that sex's relational style. (23 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
55.
Classical acoustic conditioning was investigated with the common carp (Cyprinus carpio) to determine its potential as a management tool for this invasive species. Groups of five juvenile carp were trained to associate a 400 Hz pure tone stimulus with a food reward in small laboratory tanks (≤ 1000 L). Following three days of training, the majority of fish showed a consistent and rapid (< 30 s) ability to localize the sound. All groups (n = 5) displayed retention without subsequent reinforcement for at least four months, and three groups maintained the conditioned behavior after 5 months. Additional trials were conducted in a 24,000 L outdoor pool to mimic more natural conditions. Carp again displayed relatively short learning curves and high accuracy (84.4%) in localizing the sound source. These findings indicate that carp are readily conditioned to an acoustic signal and are able to retain this behavior for months, suggesting that acoustical conditioning may be used as a management strategy in which the movement of wild carp can be manipulated for trapping and removal within a lake system. 相似文献
56.
Shani Wilkes Elizabeth R. Kazakoff Jen Elise Prescott Kristine Bundschuh Pamela E. Hook Raffaela Wolf Lisa B. Hurwitz Paul Macaruso 《Journal of Computer Assisted Learning》2020,36(5):595-609
In the context of trying to improve reading proficiency in elementary school students, this study investigated the use of digital technology as part of a blended learning program, Core5, in kindergarten and first grade classes. A quasi-experimental design compared 283 treatment students instructed in schools using Core5 with 237 control students in schools using traditional instruction in an urban school district. At the beginning of the school year, all students were pretested with Dynamic Indicators of Basic Early Literacy Skills (DIBELS), a commonly used reading assessment. During the school year, the treatment schools implemented Core5, which includes the online component and offline teacher-led lessons. The English Language Arts curriculum was evaluated and found to be similar across treatment and control schools. At the end of the school year, all students were post-tested with DIBELS. Results from propensity score analyses showed that treatment students outperformed control students and that the discrepancy between treatment and control groups on post-test scores was more pronounced when students had lower pretest scores. These outcomes point to the value of using Core5 for reading instruction in early elementary grades. 相似文献
57.
Eshuis Elise H. ter Vrugte Judith Anjewierden Anjo Bollen Lars Sikken Jakob de Jong Ton 《International Journal of Computer-Supported Collaborative Learning》2019,14(1):53-76
International Journal of Computer-Supported Collaborative Learning - New societal demands call for schools to train students’ collaboration skills. However, research thus far has focused... 相似文献
58.
K. Elise Watchorn Gordon Goldsborough Christiane Hudon Zofia E. Taranu 《Journal of Great Lakes research》2021,47(3):690-702
A time-series (1990–2013) of classified vegetation cover maps was produced for Netley-Libau Marsh, a 26,000 ha coastal wetland on Lake Winnipeg, to assess its current status and verify earlier trends of emergent vegetation loss. Open water area in the marsh was measured from late-summer Landsat images for 20 years; three classes of vegetation types (emergents, wet meadows, upland) could also be identified for 12 images covering the same period. Temporal changes in area and distribution of marsh vegetation were related to adjoining Lake Winnipeg water-level and Red River discharge, as well as marsh connectivity and bathymetry. From 1990 to 2002, an increase in open-water areas and decrease in emergent vegetation coincided with rising levels and flows. The year 2003 marked major wetland regeneration and a decrease of open-water area under extremely low water-levels and flows. From 2005 to 2013, open-water area remained consistent, under high but variable levels and flows. A strong negative correlation was found between area of emergent vegetation and mean Red River discharge in the previous June-July. Superimposition of the limit of new emergent vegetation observed in 2003 with depth contours surveyed in 2010 revealed the dynamic nature of marsh bathymetry. Periods of extremely low water as short as one year (2003) induced a marked expansion in emergent vegetation cover that persisted over the next ten years despite higher water-levels. Rather than being gradual, changes in the spatial extent of Netley-Libau Marsh vegetation appeared to proceed by fits and starts, wherein periods of relative stasis were disrupted by major changes in abundance. 相似文献
59.
An Intelligent Evacuation,Rescue and Recovery Concept 总被引:1,自引:0,他引:1
Recent terrorist incidents have demonstrated that personnel responsible for decision-making in post-attack and structural
fire evacuation, rescue and recovery (ERR) activities can significantly benefit from an expert decision support system. In
this paper, a concept is proposed for such an expert system that, through the use of sensor technology, can permit real-time
assessment of the extent of blast and fire damage to a building, can recommend immediate actions that can be taken to mitigate
the situation and prevent further deterioration, can monitor the growth and spread of fire and smoke, and can be used to aid
the rescue workers and evacuees in rescue efforts and safe egress. This comprehensive system, once fully operational, can
be used for training, blast damage assessment (BDA), target vulnerability assessment (TVA), pre-event emergency preparedness
planning, and post-attack ERR operations. The key capabilities of this system stem from the electronic integration of two
critical components: a near real-time intelligent BDA/TVA tool and on-line ERR-related optimization techniques. The implementation
of this concept will support faster and more efficient evacuation of a building, ship, or other large structure in the event
of military attack, fire, natural disaster, chemical attack, discovery of hazardous materials or biological agents, or other
circumstances warranting quick escape. 相似文献
60.