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11.
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
12.
Dr. Laura Fourmois Dr. Florent Poyer Dr. Aude Sourdon Delphine Naud-Martin Dr. Sounderya Nagarajan Dr. Rahima Chennoufi Dr. Eric Deprez Dr. Marie-Paule Teulade-Fichou Dr. Florence Mahuteau-Betzer 《Chembiochem : a European journal of chemical biology》2021,22(14):2457-2467
Mitochondria are involved in many cellular pathways and dysfunctional mitochondria are linked to various diseases. Hence efforts have been made to design mitochondria-targeted fluorophores for monitoring the mitochondrial status. However, the factors that govern the mitochondria-targeted potential of dyes are not well-understood. In this context, we synthesized analogues of the TP-2Bzim probe belonging to the vinyltriphenylamine (TPA) class and already described for its capacity to bind nuclear DNA in fixed cells and mitochondria in live cells. These analogues ( TP-1Bzim, TPn-2Bzim, TP1+-2Bzim, TN-2Bzim ) differ in the cationic charge, the number of vinylbenzimidazolium branches and the nature of the triaryl core. Using microscopy, we demonstrated that the cationic derivatives accumulate in mitochondria but do not reach mtDNA. Under depolarisation of the mitochondrial membrane, TP-2Bzim and TP1+-2Bzim translocate to the nucleus in direct correlation with their strong DNA affinity. This reversible phenomenon emphasizes that these probes can be used to monitor ΔΨm variations. 相似文献
13.
Coton E Coton M Levert D Casaregola S Sohier D 《International journal of food microbiology》2006,108(1):130-135
In this study, rDNA ITS restriction analysis was used to identify yeasts from two naturally fermented products: French ciders and black olives. In cider musts and bottled ciders, the PCR-RFLP method generated 15 different ITS/RFLP profiles for a total of 208 isolates. The predominant yeasts corresponded to Saccharomyces bayanus, Saccharomyces cerevisiae, Lachancea cidri and Dekkera anomala. Three identified species: Candida sake, Candida tropicalis and Kluyveromyces marxianus had never been described before in ciders. For the black olive fermentation, the method allowed for identification of 11 profiles for a total of 137 isolates. A sequential apparition of yeasts was observed with Pichia anomala, Candida boidinii and Debaryomyces etchellsii being the predominant species. Four isolates did not correspond to any known species based on the sequencing of the D1/D2 region of the 26S rRNA gene. By using the rDNA ITS method, valuable information on yeast population biodiversity and dynamics in the naturally fermented food products studied was obtained. 相似文献
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This study examines the development of children's ability to express emotions in their human figure drawing. Sixty children of 5, 8, and 11 years were asked to draw "a man," and then a "sad", "happy," "angry" and "surprised" man. Expressivity of the drawings was assessed by means of two procedures: a limited choice and a free labelling procedure. Emotionally expressive drawings were then evaluated in terms of the number and the type of graphic cues that were used to express emotion. It was found that children are able to depict happiness and sadness at 8, anger and surprise at 11. With age, children use increasingly numerous and complex graphic cues for each emotion (i.e., facial expression, body position, and contextual cues). Graphic cues for facial expression (e.g., concave mouth, curved eyebrows, wide opened eyes) share strong similarities with specific "action units" described by Ekman and Friesen (1978) in their Facial Action Coding System. Children's ability to depict emotion in their human figure drawing is discussed in relation to perceptual, conceptual, and graphic abilities. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
16.
Clmentine Thabuis Frdric Destaillats Delphine Tissot‐Favre Jean‐Charles Martin 《Lipid Technology》2007,19(10):225-227
Fatty acid ethanolamides are lipid compounds with biological activities. Among them, oleoyl‐ethanolamide (OEA) has attracted a great deal of interest because of its biological properties. OEA is found in low amount in foodstuffs, but mainly stems from endogenous synthesis. In rodents, intraperitoneal administration of OEA induces satiety and peripheral utilization of lipid substrate. Both in vitro studies and knock‐out animal models have revealed some mechanisms of action, such as PPARα signaling, selected neuron activation and endocrine (ghrelin) signaling. The proximal intestine seems to be a target organ for satiety control. Acute oral administration also induces satiety. Further studies are still required to better address the physiological impact of both oral and intraperitoneal OEA when administrated in the long term. 相似文献
17.
Delphine Paolantoni Sonia Cantel Pascal Dumy Sébastien Ulrich 《International journal of molecular sciences》2015,16(2):3609-3625
DNA-templated self-assembly is an emerging strategy for generating functional supramolecular systems, which requires the identification of potent multi-point binding ligands. In this line, we recently showed that bis-functionalized guanidinium compounds can interact with ssDNA and generate a supramolecular complex through the recognition of the phosphodiester backbone of DNA. In order to probe the importance of secondary interactions and to identify side groups that stabilize these DNA-templated self-assemblies, we report herein the implementation of a dynamic combinatorial approach. We used an in situ fragment assembly process based on reductive amination and tested various side groups, including amino acids. The results reveal that aromatic and cationic side groups participate in secondary supramolecular interactions that stabilize the complexes formed with ssDNA. 相似文献
18.
Delphine Antoni Hélène Burckel Elodie Josset Georges Noel 《International journal of molecular sciences》2015,16(3):5517-5527
Cell culture is an important tool for biological research. Two-dimensional cell culture has been used for some time now, but growing cells in flat layers on plastic surfaces does not accurately model the in vivo state. As compared to the two-dimensional case, the three-dimensional (3D) cell culture allows biological cells to grow or interact with their surroundings in all three dimensions thanks to an artificial environment. Cells grown in a 3D model have proven to be more physiologically relevant and showed improvements in several studies of biological mechanisms like: cell number monitoring, viability, morphology, proliferation, differentiation, response to stimuli, migration and invasion of tumor cells into surrounding tissues, angiogenesis stimulation and immune system evasion, drug metabolism, gene expression and protein synthesis, general cell function and in vivo relevance. 3D culture models succeed thanks to technological advances, including materials science, cell biology and bioreactor design. 相似文献
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20.
Charles-Henri Bruneau Emmanuel Creusé Delphine Depeyras Patrick Gilliéron Iraj Mortazavi 《Computers & Fluids》2010,39(10):1875-1892
Several active and passive control techniques are used to reduce the drag coefficient of the square back Ahmed body. The results are carefully analyzed and compared to each other. The final goal of this paper is to show that it is possible to couple passive and active control techniques to improve the flow control. In the present study, a drag reduction of 30% is achieved, almost corresponding to the goal of automotive industry. 相似文献