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Minigene Analysis of the c.743 + 40A >G Intronic Variant in the <i>CFTR</i>Gene

Health 2014年第12期6卷 1352-1360页

作者： Ayman El-Seedy Raed Farhat Marie-Claude Pasquet alain kitzis Véronique Ladeveze Génétique Moléculaire de Maladies Rares P&ocirc le Biologie Santé Université de Poitiers Poitiers France

Background: Since the identification of the cystic fibrosis transmembrane regulator (CFTR) gene in 1989, many polymorphisms have been identified in cystic fibrosis (CF) or CFTR-related disorders (CFTR-RDs) patients and still remain to be characterized at the molecular level. These polymorphisms are difficult to classify as pathogenic or non-disease causing because the polymorphisms are either located in the coding region, but are synonymous, or are found in the intronic regions. Here we investigated the potential impact of the c.743 + 40A > G polymorphism within CFTR intron 6 on the alternative splicing. Indeed, this variant has been observed frequently in our examined patients. Moreover, a family carrying this variant exhibited CFTR-RD phenotype. Methods: By denaturing high pressure liquid phase chromatography (DHPLC) and sequencing, thirty of 293 subjects French origin carried the c.743 + 40A > G variant. Of these, 16 patients were affected by CF or CFTR-RD. Wild-type sequences and mutant CFTR intron 6 and its boundaries were inserted into the pTBNdeI hybride minigene and expressed in three different cell lines. After RT-PCR analysis of mRNA using specific primers, sequences of the minigene transcripts were obtained. Results: No aberrant splicing was detected with minigene carrying c.743 + 40A > G variant in all transfected cell lines. However, an alternative splicing in the positive control was detected with a minigene carrying the c.1392G > T + 1G > T mutation: 5 nucleotides were deleted from mRNA sequences, indicating that used cell lines are appropriate for studying the splicing. Conclusion: Transient transfections of a minigene containing the c.743 + 40A > G polymorphism showed no splicing errors, and thus this intronic alteration was finally classified as non-pathogenic. As it is always associated with c.2562T > G and c.4389G > A, or TG12-7T poly-morphisms, further experiments are needed to determine the role of these complex alleles in disease pathogenesis.

关键词： Cystic Fibrosis Polymorphism Complex Allele Hybrid Minigene Splicing

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Stepping up after spinal cord injury:negotiating an obstacle during walking

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Neural Regeneration Research 2025年第7期20卷 1919-1929页

作者： alain Frigon Charly G.Lecomte Department of Pharmacology-Physiology Faculty of Medicine and Health SciencesUniversitéde SherbrookeCentre de recherche du Centre Hospitalier Universitaire de SherbrookeSherbrookeQCCanada

Every day walking consists of frequent voluntary modifications in the gait pattern to negotiate *** spinal cord injury,stepping over an obstacle becomes *** over an obstacle requires sensorimotor transformations in several structures of the brain,including the parietal cortex,premotor cortex,and motor *** information and planning are transformed into motor commands,which are sent from the motor cortex to spinal neuronal circuits to alter limb trajectory,coordinate the limbs,and maintain *** spinal cord injury,bidirectional communication between the brain and spinal cord is disrupted and animals,including humans,fail to voluntarily modify limb trajectory to step over an ***,in this review,we discuss the neuromechanical control of stepping over an obstacle,why it fails after spinal cord injury,and how it recovers to a certain extent.

关键词： biomechanics locomotion neurophysiology obstacle negotiation spinal cord injury

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Some Remarks on Korn Inequalities

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Chinese Annals of Mathematics,Series B 2018年第2期39卷 335-344页

作者： alain damlamian Dedicated to Philippe G. Ciarlet on the occasion of his 80th birthda

A recent joint paper with Doina Cioranescu and Julia Orlik was concerned with the homogenization of a linearized elasticity problem with inclusions and cracks(see[Cioranescu, D., Damlamian, A. and Orlik, J., Homogenization via unfolding in periodic elasticity with contact on closed and open cracks, Asymptotic Analysis, 82, 2013, 201–232]). It required uniform estimates with respect to the homogenization parameter. A Korn inequality was used which involves unilateral terms on the boundaries where a nopenetration condition is imposed. In this paper, the author presents a general method to obtain many diverse Korn inequalities including the unilateral inequalities used in [Cioranescu, D., Damlamian, A. and Orlik, J., Homogenization via unfolding in periodic elasticity with contact on closed and open cracks, Asymptotic Analysis, 82, 2013, 201–232]. A preliminary version was presented in [Damlamian, A., Some unilateral Korn inequalities with application to a contact problem with inclusions, C. R. Acad. Sci. Paris, Ser. I,350, 2012, 861–865].

关键词： Korn domains Korn-Wirtinger domains Unilateral Korn inequality

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Pfaffians and Representations of the Symmetric Group

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Acta Mathematica Sinica,English Series 2009年第12期25卷 1929-1950页

作者： alain LASCOUX CNRS IGM Universite Paris-Est

Pfaffians of matrices with entries z[i, j]/（xi ＋ xj）, or determinants of matrices with entries z[i, j]/（xi - xj）, where the antisymmetrical indeterminates z[i, j] satisfy the Pliicker relations, can be identified with a trace in an irreducible representation of a product of two symmetric groups. Using Young＇s orthogonal bases, one can write explicit expressions of such Pfaffians and determinants, and recover in particular the evaluation of Pfaffians which appeared in the recent literature.

关键词： Pfaffians symmetric group representations

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A non-ideal solution theory for the mechanics and electrochemistry of charged membranes

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npj Computational Materials 2022年第1期8卷 1365-1378页

作者： alain Boldini Maurizio Porfiri Center for Urban Science and Progress Department of Mechanical and Aerospace EngineeringNew York University Tandon School of Engineering370 Jay StreetBrooklyn11201NYUSA Center for Urban Science and Progress Department of Mechanical and Aerospace EngineeringDepartment of Biomedical EngineeringNew York University Tandon School of Engineering370 Jay StreetBrooklyn11201NYUSA

Understanding how ions and solvent molecules migrate within charged membranes is fundamental for advancing the analysis of biological membranes and the design of energy storage and production *** efforts highlighted a significant interplay between mechanics and electrochemistry in charged membranes,calling for the development of high-fidelity models to describe their ***,we propose a continuum theory of the chemoelectromechanics of charged membranes,accounting for potentially large deformations and non-idealities of the solution permeating the *** demonstrate the potential applications of our theory within the study of ionic polymer *** theory predicts sizeable effects of non-idealities and mechanical deformations,enabling insight into the role of mechanics on solute and solvent transport within charged membranes.

关键词： interaction. theory electrochemistry

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The Guianese population of the fire ant Solenopsis saevissima is unicolonial

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Insect Science 2016年第5期23卷 739-745页

作者： alain Lenoir Severine Devers Axel Touchard alain Dejean lRBI Institut de Recherche sur la Biologie de I'lnsecte UMR CNRS 7261 Universite Francois Rabelais 37200 Tours CNRS Ecologie des Forets de Guyane (UMR CNRS 8172) Campus agronomique BP 316 97379 Kourou cedex Universite de Toulouse UPS INP Ecolab 118 route de Narbonne 31062 Toulouse and CNRS Ecolab (UMR-CNRS 5245) 31062 Toulouse France

In this study, conducted in French Guiana, a part of the native range of the fire ant Solenopsis saevissima, we compared the cuticular hydrocarbon profiles of media workers with previous results based on intraspecific aggressiveness tests. We noted a strong congruence between the two studies permitting us to delimit 2 supercolonies extending over large distances （up to 54 kin）, a phenomenon known as unicoloniality. Solenopsis geminata workers, taken as an out-group for cluster analyses, have a very different cuticular hydrocarbon profile. Because S. saevissima has been reported outside its native range, our conclusion is that this species has the potential to become invasive because unicoloniality （i.e., the main attribute for ants to become invasive） was shown at least for the Guianese population.

关键词： biological invasions cuticular hydrocarbons fire ants unicoloniality

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Impact of Drops on Non-wetting Biomimetic Surfaces

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Journal of Bionic Engineering 2009年第4期6卷 330-334页

作者： alain Merlen Philippe Brunet Institut d'Electronique de Microelectronique et Nanotechnologie IEMN Universite des sciences et technologies de Lille1UMR CNRS 8520Avenue Poincare BP 6006959652 Villeneuve d'Ascq cedexFrance

We have carried out an experimental study of liquid drop impact on superhydrophobic substrates covered by a carpet of chemically coated *** micro-structure of the surface is similar to some biological ones(Lotus leaf for example).In this situation the contact angle can then be considered as equal to 180 degrees,with no *** to its initial inertia,the drop experiences a flattening phase after it hits the surface,taking the shape of a *** it reaches its maximal lateral extension,the drop begins to retract and bounces *** have extracted the lateral extension of the drop,and we propose a model that explains the *** find a limit initial velocity beyond which the drop protrudes into the nano-wire *** discuss the relevance of practical issues in terms of self-cleaning surfaces or spray-cooling.

关键词： superhydrophobic surfaces drop impact

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Atomic-scale structural signature of dynamic heterogeneities in metallic liquids

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npj Computational Materials 2017年第1期3卷 179-188页

作者： alain Pasturel Noel Jakse University Grenoble Alpes CNRSGrenoble INPSIMaPF-38000 GrenobleFrance

With sufficiently high cooling rates,liquids will cross their equilibrium melting temperatures and can be maintained in a metastable undercooled state before *** of undercooled liquids reveal several intriguing dynamic phenomena and because explicit connections between liquid structure and liquids dynamics are difficult to identify,it remains a major challenge to capture the underlying structural link to these *** initio molecular dynamics(AIMD)simulations are yet especially powerful in providing atomic-scale details otherwise not accessible in *** the AIMD-based study of Cr additions in Al-based liquids,we evidence for the first time a close relationship between the decoupling of component diffusion and the emergence of dynamic heterogeneities in the undercooling *** addition,we demonstrate that the origin of both phenomena is related to a structural heterogeneity caused by a strong interplay between chemical short-range order(CSRO)and local fivefold topology(ISRO)at the short-range scale in the liquid phase that develops into an icosahedral-based medium-range order(IMRO)upon ***,our findings reveal that this structural signature is also captured in the temperature dependence of partial pair-distribution functions which opens up the route to more elaborated experimental studies.

关键词： structural dynamic signature

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Transforming growth factor-β and fibrosis

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World Journal of Gastroenterology 2007年第22期13卷 3056-3062页

作者： Franck Verrecchia alain Mauviel INSERM U697 Paris 75010 France

Transforming growth factor-β （TGF-β）, a prototype of multifunctional cytokine, is a key regulator of extracellular matrix （ECM） assembly and remodeling. Specifically, TGF-β isoforms have the ability to induce the expression of ECM proteins in mesenchymal cells, and to stimulate the production of protease inhibitors that prevent enzymatic breakdown of the ECM. Elevated TGF-β expression in affected organs, and subsequent deregulation of TGF-β functions, correlates with the abnormal connective tissue deposition observed during the onset of fibrotic diseases. During the last few years, tremendous progress has been made in the understanding of the molecular aspects of intracellular signaling downstream of the TGF-β receptors. In particular, Smad proteins, TGF-β receptor kinase substrates that translocate into the cell nucleus to act as transcription factors, have been studied extensively. The role of Smad3 in the transcriptional regulation of type I collagen gene expression and in the development of fibrosis, demonstrated both/n vitro and in animal models with a targeted deletion of Smad3, is of critical importance because it may lead to novel therapeutic strategies against these diseases. This review focuses on the mechanisms underlying Smad modulation of fibrillar collagen expression and how it relates to fibrotic processes.

关键词： Collagen Connective tissue growth factor Fibrosis Smad Transforming growth factor-β

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Direct impacts of recent climate warming on insect populations

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Integrative Zoology 2010年第2期5卷 132-142页

作者： Christelle ROBINET alain ROQUES National Institute for Agricultural Research INRA UR633OrléansFrance

Effects of recent climate change have already been detected in many species,and,in particular,in *** present paper reviews the key impacts of global warming on insect development and *** effects of climate change appear to be much more complex than a simple linear response to an average increase in *** can differ between seasons and bioclimatic *** flight periods,enhanced winter survival and acceleration of development rates are the major insect *** response of insects and hosts to warming up might also lead to disruption of their phenological synchrony,but adaptive genetic processes are likely to quickly restore this *** a number of cases,warming results in removing or relocating the barriers that limit present species’*** is also likely to facilitate the establishment and spread of invasive alien ***,knowledge gaps are identified and future research interests are suggested.

关键词： adaptation alien species climate warming phenology range distribution

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