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91.
Arístides Lpez-Mrquez Matías Morín Sergio Fernndez-Pealver Carmen Badosa Alejandro Hernndez-Delgado Daniel Natera-de Benito Carlos Ortez Andrs Nascimento Daniel Grinberg Susanna Balcells Mnica Roldn Miguel ngel Moreno-Pelayo Cecilia Jimnez-Mallebrera 《International journal of molecular sciences》2022,23(8)
Collagen VI-related disorders are the second most common congenital muscular dystrophies for which no treatments are presently available. They are mostly caused by dominant-negative pathogenic variants in the genes encoding α chains of collagen VI, a heteromeric network forming collagen; for example, the c.877G>A; p.Gly293Arg COL6A1 variant, which alters the proper association of the tetramers to form microfibrils. We tested the potential of CRISPR/Cas9-based genome editing to silence or correct (using a donor template) a mutant allele in the dermal fibroblasts of four individuals bearing the c.877G>A pathogenic variant. Evaluation of gene-edited cells by next-generation sequencing revealed that correction of the mutant allele by homologous-directed repair occurred at a frequency lower than 1%. However, the presence of frameshift variants and others that provoked the silencing of the mutant allele were found in >40% of reads, with no effects on the wild-type allele. This was confirmed by droplet digital PCR with allele-specific probes, which revealed a reduction in the expression of the mutant allele. Finally, immunofluorescence analyses revealed a recovery in the collagen VI extracellular matrix. In summary, we demonstrate that CRISPR/Cas9 gene-edition can specifically reverse the pathogenic effects of a dominant negative variant in COL6A1. 相似文献
92.
Franco Chiaraluce Ennio Gambi Paola Pierleoni Susanna Spinsante 《International Journal of Communication Systems》2004,17(4):363-374
This paper presents a possible implementation of a Packet over very high bit rate digital subscriber line protocol with reduced impact of the overhead when transmitting Internet protocol packets. The proposal relates to some shared opinions about the inefficiency of the asynchronous transfer mode (ATM) layer when used to transport this kind of packets, and it is based on proper adaptation of previous recommendations and standards. It is numerically shown that a significant throughput increase is achieved when the new protocol is used in place of the current ATM adaptation layer type 5/ATM protocol. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
93.
The behavioral sequela following the prevention of home-cage grid-climbing activity in C57BL/6 mice.
Pietropaolo Susanna; Mintz Matti; Feldon Joram; Yee Benjamin K. 《Canadian Metallurgical Quarterly》2007,121(2):345
Several studies have demonstrated that the early postweaning phase (3-7 weeks of age) is a crucial ontogenic period for rodent neurobehavioral development. During this phase, both brain and behavior are highly sensitive to environmental variations (i.e., changes in the standard housing conditions). In the present study, male and female C57BL/6 mice were housed at weaning in cages provided with a Plexiglas lid, and thus, they were deprived of the opportunity to perform climbing activity on the cage grid--a major component of mouse behavior in standard laboratory environments. At early adulthood (7-10 weeks old), mice underwent an extensive battery of behavioral tests. The present study demonstrates for the first time the psychological, sex-specific relevance of home-cage grid-climbing activity in mice, showing that its prevention alters fear-conditioned responses in mice of both sexes and induces psychotic-like and anxious behaviors in females only. The data further highlight the importance of the early postweaning phase for the study of environmentally induced neurobehavioral plasticity and the design of animal models of psychiatric disorders on the basis of environmental manipulation in early postweaning life. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
94.
内容简介:意大利建筑师Susanna Ferrini和Antonello Stella的设计战略阐释了某种对模拟的渴望,它利用某一条件或背景的具体情形,将其转化为一种卓越而稀少的解决方案的灵感源。他们的事务所n!studio,这个具有无法形容特质的名称旨在隐喻建筑设计中所存在的一种“界限”,这已不再是其突变和演变过程中所出现的"物品的形式"这一问题的解决方案了, 相似文献
95.
Speranza M Satta M Piccirillo S Rondino F Paladini A Giardini A Filippi A Catone D 《Mass spectrometry reviews》2005,24(4):588-610
Chiral recognition is a fundamental phenomenon in life sciences, based on the enantioselective complexation of a chiral molecule with a chiral selector. The diastereomeric aggregates, formed by complexation, are held together by a different combination of intermolecular forces and are therefore endowed with different stability and reactivity. Determination of these forces, which are normally affected in the condensed phase by solvent and supramolecular interactions, requires the generation of the diastereomeric complexes in the isolated state and their spectroscopic investigation. This review deals with chiral recognition in the gas phase through the application of laser-resolved mass spectrometric techniques (R2PI-TOF and RET-MS). The measurement of the fragmentation thresholds of diastereomeric clusters by these techniques allows the determination of the nature of the intrinsic interactions, which control their formation and affect their stability and reactivity. 相似文献
96.
Alex Marchi Susanna Reggiani Massimo Rudan Andrea Bertoni 《Journal of Computational Electronics》2006,5(2-3):177-180
We study, by numerical simulations, the effect of topology on coherent electron transport through cylindrical junctions and bent cylindrical surfaces. The dynamics of a particle bound to a curved surface is described by a modified Schrödinger equation depending on two curvilinear coordinates. The modeling approach based on a finite-difference discretization of the latter equation is described, and a comparison with the standard solution of Schrödinger equation for flat surfaces is given. The effect of the geometrical parameters of the structures is reported. 相似文献
97.
White Carrie V.; Pascarella Ernest T.; Pflaum Susanna W. 《Canadian Metallurgical Quarterly》1981,73(5):697
30 learning-disabled Hispanic, White, and Black children (mean IQ 88.60 and mean age 11.73 yrs) were randomly assigned to 2 conditions focusing on sentence comprehension: a sentence anagram/word grouping treatment and a more traditional sentence study treatment. With age, IQ, and pretest comprehension (Gates-MacGinitie Reading Tests) controlled, Ss in the sentence anagram/word grouping condition had significantly higher cloze scores than Ss in the sentence study group. The greatest achievement benefits associated with the anagram treatment, however, accrued to Ss with higher initial reading achievement. As level of pretreatment achievement decreased, the magnitude of the treatment differences also tended to decrease. (23 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
98.
Isabelle Favier Montserrat Gmez Guillermo Muller M. Rosa Axet Sergio Castilln Carmen Claver Susanna Jansat Bruno Chaudret Karine Philippot 《Advanced Synthesis \u0026amp; Catalysis》2007,349(16):2459-2469
Palladium nanoparticles ( Pd1 – Pd3 ) stabilized by chiral diphosphite ligands ( 1 – 3 ), were synthesized and tested as catalysts for the allylic alkylation reaction, using different substrates (rac‐ I , rac‐ III and rac‐ V ). Carbohydrate ligands ( 1 and 2 ), only differing in the C‐3 configuration, led to a remarkable difference in stability of the corresponding nanoparticles: while Pd1 is a robust catalyst, Pd2 decomposes into molecular species. In addition, the high enantioselective systems, Pd1 and Pd3 , are only active for a substrate containing phenyl groups. Concerning the catalytic behaviour of the corresponding molecular systems, palladium complexes coordinated to ligands 1 or 3 , gave excellent asymmetric inductions, but an analogous catalyst accommodating ligand 2 , was not found selective. 相似文献
99.
The present study investigated ozonation as means to remove resin acids from pulp and paper mill circulation waters. Ozone selectively oxidizes resin acids in debarking, thermomechanical pulping (TMP), and newsprint machine (PM) circulation waters. The relative ozone dose of 0.2 mgO3/initial mgCOD eliminated over 90% of total resin acid concentration in all tested waters, despite the initial resin acid or organic matter concentration. With that ozone dose, the removal of organic material (measured as COD) was only about 30%. Because of the different COD concentrations of tested waters, the absolute amount of ozone needed for over 90% resin acid reduction was 2000 mg/1 for debarking water, 600 mg/1 for TMP water, and 300 mg/1 for PM water, when initial COD concentrations were 10,000, 3000, and 1500 mg/1, respectively. In theory, abietane type resin acids should be more susceptible to ozone attack than pimarane type resin acids, because of their conjugated double bond structure. In the experiments, a high oxidizability of pimarane type resin acids, as compared to abietane type resin acids, was found. 相似文献
100.
Amparore Elvio G. Donatelli Susanna Ciardo Gianfranco 《International Journal on Software Tools for Technology Transfer (STTT)》2020,22(5):541-562
International Journal on Software Tools for Technology Transfer - Decision diagrams (DDs) are widely used in system verification to compute and store the state space of finite discrete events... 相似文献