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443 results on '"Delpech M"'

1. Rapport 21-13. Formation des chirurgiens/des équipes chirurgicales à la chirurgie robot-assistée. État de la situation actuelle. Propositions d’améliorations

Author

Bagot, M., Pion, M., Vuitton, D.A., Bertrand, D., Bonnin, A., Bontoux, D., Boudjema, K., Bringer, J., Caton, J., Charpentier, B., Chays, A., Christmann, D., Couturier, D., Delpech, M., Deugnier, Y., Dubousset, J., Dussaule, J.C., Fabiani, J.N., Gueant, J.L., Hauet, T., Hubert, J., Huriet, C., Lebranchu, Y., Le Gall, J.Y., Legent, F., Levy-Brul, D., Levy, P., Logeais, Y., Loisance, D., Ludes, B., Malafosse, M., Mandarim-De-Lacerda, C., Mantion, G., Marescaux, J., Michot, F., Mornex, R., Ourabah, R., Poitout, D., Queneau, P., Ricco, J.B., Richard, F., de Saint Julien, J., Sassard, J., Stoltz, J.F., Vouhé, P., Tran Ba Huy, P., Delmas, V., and Vouhe, P.

Published
2022
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4. Flight demonstration of formation flying capabilities for future missions (NEAT Pathfinder)

Author

Delpech, M., Malbet, F., Karlsson, T., Larsson, R., Léger, A., and Jorgensen, J.

Subjects
Astrophysics - Instrumentation and Methods for Astrophysics
Abstract

PRISMA is a demonstration mission for formation-flying and on-orbit-servicing critical technologies that involves two spacecraft launched in low Earth orbit in June 2010 and still in operation. Funded by the Swedish National Space Board, PRISMA mission has been developed by OHB Sweden with important contributions from the German Aerospace Centre (DLR/GSOC), the French Space Agency (CNES), and the Technical University of Denmark (DTU). The paper focuses on the last CNES experiment achieved in September 2012 that was devoted to the preparation of future astrometry missions illustrated by the NEAT and microNEAT mission concepts. The experiment consisted in performing the type of formation maneuvers required to point the two-satellite axis to a celestial target and maintain it fixed during the observation period. Achieving inertial pointing for a LEO formation represented a new challenge given the numerous constraints from propellant usage to star tracker blinding. The paper presents the experiment objectives in relation with the NEAT/microNEAT mission concept, describes its main design features along with the guidance and control algorithms evolutions and discusses the results in terms of performances achieved during the two rehearsals, Comment: 16 pages, in Proc. of the 7th International Workshop on "Satellite Constellation and Formation Flying" held in Lisbon (Portugal), 13-15 March 2013

Published
2013
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18. Spontaneous transient outward currents and delayed rectifier K+ current: effects of hypoxia

Author

Vandier, C., Delpech, M., and Bonnet, P.

Subjects
Hypoxia -- Physiological aspects, Potassium channels -- Physiological aspects, Calcium ions -- Physiological aspects, Biological sciences
Abstract

A study was conducted to analyze the influence of hypoxia on spontaneous transient outward currents and delayed rectifier potassium channel current. Cells were placed in a 1-ml volume bath for electrophysiological recording.Results showed that the removal of external Ca2+ and thapsigargin eliminated the effects of hypoxia, indicating that hypoxia minimizes steady-state outward current by a Ca2+-dependent mechanism.

Published
1998

20. Hypoxia enhances agonist-induced pulmonary arterial contraction by increasing calcium sequestration

Author

Vandier, C., Delpech, M., Rebocho, M., and Bonnet, P.

Subjects
Hypoxia -- Research, Pulmonary artery -- Physiological aspects, Calcium in the body -- Physiological aspects, Noradrenaline -- Physiological aspects, Biological sciences
Abstract

An experiment was performed to determine the effects of hypoxia on the rabbit's pulmonary artery through the administration of norepinephrine (NE). The additional purpose of the study was to assess the function of extracellular calcium during NE-induced contraction. Phasic and tonic contractions were observed in the intrapulmonary arterial rings. In conclusion, hypoxia increased the calcium pump activity of the pulmonary arterial rings and the concentration of calcium in the sarcoplasmic reticulum.

Published
1997

22. Description of the rendezvous experiment designed for 2007 Mars Premier mission

Author

Delpech, M, Dubois, J. B, Riedel, J. E, and Guinn, J. R

Subjects
Lunar And Planetary Science And Exploration
Abstract

The Mars Premier mission that was to be flown in 2007 by CNES in cooperation with NASA/JPL included a rendezvous experiment to be performed in Mars orbit to validate key technologies applicable to a Sample Return mission. The experiment goal was to demonstrate the capability to detect and track a sample canister at long range and validate terminal rendezvous strategies including a capture.

Published
2003

23. A combined open-loop and autonomous search and rendezvous navigation system for the CNES/NASA Mars Premier Orbiter mission

Author

Riedel, J. E, Guinn, J, Delpech, M, Dubois, J. B, Geller, D, and Katchmar, P

Subjects
Lunar And Planetary Science And Exploration
Abstract

This paper will describe the search methods to be used using the radio and optical observations, and will provide a description of the methods and performance of the autonomous onboard rendezvous navigation system.

Published
2003

27. Telerobotic Operations with Time Delay, Results from the ISECG GAP Assesment Team

Author

Armin Wedler, Metcalfe, L., Alfano, D., Hambuchen, K., Vangen, S., Wilcox, B., Nergaard, K., Bergamasco, A., Fratini, S., Donati, A., Schmidt, M., Delpech, M., Mousset, V., Ueno, H., Zhu, W. -H, Gingras, D., Kaupisch, T., Sommer, B., and Grunwald, G.

Subjects
Shared Autonomy, Haptic tele presence, Telerobotic, autonomy, exploration, Time Delay, Institut für Robotik und Mechatronik (ab 2013), Robotic
Abstract

Since the Global Exploration Roadmap has been released in the third generation early this year, the International Space Exploration Coordination Group (ISECG) has formed two technology working groups (TWG) to identify gaps in “Telerobotic Operations with Time Delay” and “Autonomy Operations”, required by the mission profiles discussed in the Global Exploration Roadmap. This paper describes the compressed results from the Working Group “Telerobotic Operations with Time Delay”, including the goal and objectives of the working team. It gives an overview of the different mode of operation, required to control robots remotely. Analysing the mission scenarios described in the roadmap, the required robotic tasks has been extracted and gaps within those have been identified. These gaps are discussed respect to the common capabilities, divided and classified in operational, performance technology and non-technical gaps.

Published
2018

29. Visually guided grasping to study teleprogrammation within the BAROCO testbed

Author

Devy, M, Garric, V, Delpech, M, and Proy, C

Subjects
Cybernetics
Abstract

This paper describes vision functionalities required in future orbital laboratories; in such systems, robots will be needed in order to execute the on-board scientific experiments or servicing and maintenance tasks under the remote control of ground operators. For this sake, ESA has proposed a robotic configuration called EMATS; a testbed has been developed by ESTEC in order to evaluate the potentialities of EMATS-like robot to execute scientific tasks in automatic mode. For the same context, CNES develops the BAROCO testbed to investigate remote control and teleprogrammation, in which high level primitives like 'Pick Object A' are provided as basic primitives. In nominal situations, the system has an a priori knowledge about the position of all objects. These positions are not very accurate, but this knowledge is sufficient in order to predict the position of the object which must be grasped, with respect to the manipulator frame. Vision is required in order to insure a correct grasping and to guarantee a good accuracy for the following operations. We describe our results about a visually guided grasping of static objects. It seems to be a very classical problem, and a lot of results are available. But, in many cases, it lacks a realistic evaluation of the accuracy, because such an evaluation requires tedious experiments. We propose several results about calibration of the experimental testbed, recognition algorithms required to locate a 3D polyhedral object, and the grasping itself.

Published
1994

30. Robotic experiment with a force reflecting handcontroller onboard MIR space station

Author

Delpech, M and Matzakis, Y

Subjects
Man/System Technology And Life Support
Abstract

During the French CASSIOPEE mission that will fly onboard MIR space station in 1996, ergonomic evaluations of a force reflecting handcontroller will be performed on a simulated robotic task. This handcontroller is a part of the COGNILAB payload that will be used also for experiments in neurophysiology. The purpose of the robotic experiment is the validation of a new control and design concept that would enhance the task performances for telemanipulating space robots. Besides the handcontroller and its control unit, the experimental system includes a simulator of the slave robot dynamics for both free and constrained motions, a flat display screen and a seat with special fixtures for holding the astronaut.

Published
1994

32. Experimental study on direct adaptive control of a PUMA 560 industrial robot

Author

Seraji, H, Lee, T, and Delpech, M

Subjects
Cybernetics
Abstract

The implementation and experimental validation of a direct adaptive control scheme on a PUMA 560 industrial robot is discussed. The design theory for direct adaptive control of manipulators is outlined and the test facility and software are described. Results are presented from the experiments on the simultaneous control of all of the six joint angles and control of the end-effector position and orientation of the robot. Also, the possible applications of the direct adaptive control scheme are considered.

Published
1990

34. Les minéralisations à Cu et à Pb de la Grande Saule, Falck, Moselle

Author

Lacroix, Elodie, Cauzid, Jean, Atton, Mikaël, Delpech, M., Delpech, S., Morin, Denis, Pastor, Raphaël, Wilmouth, Anne, Archéologie, Terre, Histoire, Sociétés [Dijon] (ARTeHiS), Ministère de la Culture et de la Communication (MCC)-Université de Bourgogne (UB)-Centre National de la Recherche Scientifique (CNRS), Archéologie, Terre, Histoire, Sociétés [Dijon] ( ARTeHiS ), and Ministère de la Culture et de la Communication ( MCC ) -Université de Bourgogne ( UB ) -Centre National de la Recherche Scientifique ( CNRS )

Subjects
Archéologie, [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory, [ SHS.ARCHEO ] Humanities and Social Sciences/Archaeology and Prehistory, [ SHS ] Humanities and Social Sciences, minéralisation plomb, Géologie, ComputingMilieux_MISCELLANEOUS, Minéralisation cuivre, [SHS]Humanities and Social Sciences
Abstract

International audience

Published
2016

35. D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

Author

Valleix, S., Guglielmo Verona, Jourde-Chiche, N., Nédelec, B., Mangione, P. P., Bridoux, F., Mangé, A., Dogan, A., Goujon, J. -M, Lhomme, M., Dauteuille, C., Chabert, M., Porcari, R., Waudby, C. A., Relini, A., Talmud, P. J., Kovrov, O., Olivecrona, G., Stoppini, M., Christodoulou, J., Hawkins, P. N., Grateau, G., Delpech, M., Kontush, A., Gillmore, J. D., Kalopissis, A. D., Bellotti, V., Laboratoire de Biochimie et Génétique Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5), Bocconi University, Bocconi University [Milan, Italy], Vascular research center of Marseille (VRCM), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie de l'Endothelium, Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Università degli Studi di Pavia = University of Pavia (UNIPV), Service de Néphrologie CHU Poitiers, Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Mayo Clinic, Service d’Anapathomopathologie, Centre hospitalier universitaire de Poitiers (CHU Poitiers), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Sorbonne Université (SU), University College of London [London] (UCL), University of London [London], Università degli studi di Genova = University of Genoa (UniGe), Centre For Cardiovascular Genetics, Royal Free and UCL Medical School, Umeå University, Dept Mol Med, Genetic Metabolic Disorders Research Unit, Kids Research Institute-Westmead Hospital [Sydney], Discipline of Paediatrics & Child Health, The University of Sydney, Discipline of Genetic Medicine, Sydney Medical School-The University of Sydney, Western Sydney Genetics Program, Westmead Hospital [Sydney], CHU Tenon [AP-HP], CHU Saint-Antoine [AP-HP], UCL, Ctr Amyloidosis & Acute Phase Prot, University College of London [London] (UCL)-University ofLondon, l’Association Franc ̧aise contre l’Amylose, the Institut Nationalde la Sante ́et de la Recherche Me ́dicale (INSERM) and the French National ReferenceCenter for AL amyloidosis, the UK NHS Research and Development funds, theUniversity College London Amyloidosis Research Fund and grants from the UK MedicalResearch Council (MR/K000187/1), the Rosetrees Trust/Royal Free Charity PhDprogramme (M427), the British Heart Foundation (PG08/008), the Wellcome TrustInvestigator Award (097806/Z/11/Z), the Cariplo Foundation Projects (2014–0700 and2013-0964), the Telethon Grant GG14127, the INBB (National Institute of Biostructuresand Biosystems), the Italian Ministry of Health and the Italian Ministry of University andResearch (Projects FIRB RBFR109EOS), Laboratoire commun de biologie et génétique moléculaires [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], DIGNAT-GEORGE, Françoise, Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ), Vascular research center of Marseille ( VRCM ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Hôpital de la Conception [CHU - APHM] ( LA CONCEPTION ), Université Montpellier 1 ( UM1 ), Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), CHU Pitié-Salpêtrière [APHP], Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition ( ICAN ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -CHU Pitié-Salpêtrière [APHP], University of Genoa ( UNIGE ), University of Pavia, Children's Hospital at Westmead-Kids Research Institute, The University of Sydney [Sydney], Sydney Medical School-The University of Sydney [Sydney], Children's Hospital at Westmead, University College of London [London] ( UCL ) -University ofLondon, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Genoa (UNIGE), and Westmead Hospital [Sydney]-Kids Research Institute

Subjects
Adult, Male, Hyperlipoproteinemias, Science, [SDV]Life Sciences [q-bio], Molecular Sequence Data, Mutation, Missense, Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy), Lipoproteins, VLDL, bcs, Article, LIPASE ACTIVITY, OF-FUNCTION MUTATIONS, Humans, Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci), Aged, Aged, 80 and over, Apolipoprotein C-III, CELLULAR CHOLESTEROL EFFLUX, [ SDV ] Life Sciences [q-bio], Base Sequence, Amyloidosis, Middle Aged, LIPID-BINDING, ANTIOXIDATIVE ACTIVITY, Pedigree, [SDV] Life Sciences [q-bio], HDL PARTICLES, A-I, ELEVATED OXIDATIVE STRESS, Cardiovascular Diseases, Female, lipids (amino acids, peptides, and proteins), France, Lipoproteins, HDL, DENSE LDL, TRIGLYCERIDE-RICH LIPOPROTEINS
Abstract

Apolipoprotein C-III deficiency provides cardiovascular protection, but apolipoprotein C-III is not known to be associated with human amyloidosis. Here we report a form of amyloidosis characterized by renal insufficiency caused by a new apolipoprotein C-III variant, D25V. Despite their uremic state, the D25V-carriers exhibit low triglyceride (TG) and apolipoprotein C-III levels, and low very-low-density lipoprotein (VLDL)/high high-density lipoprotein (HDL) profile. Amyloid fibrils comprise the D25V-variant only, showing that wild-type apolipoprotein C-III does not contribute to amyloid deposition in vivo. The mutation profoundly impacts helical structure stability of D25V-variant, which is remarkably fibrillogenic under physiological conditions in vitro producing typical amyloid fibrils in its lipid-free form. D25V apolipoprotein C-III is a new human amyloidogenic protein and the first conferring cardioprotection even in the unfavourable context of renal failure, extending the evidence for an important cardiovascular protective role of apolipoprotein C-III deficiency. Thus, fibrate therapy, which reduces hepatic APOC3 transcription, may delay amyloid deposition in affected patients., Decrease in Apolipoprotein C-III (ApoC-III) yields a cardioprotective lipoprotein profile. Here, Valleix et al. reveal a novel ApoC-III variant conferring low plasma ApoC-III concentration and cardioprotection despite renal insufficiency, and, unexpectedly, causing dominant hereditary systemic amyloidosis due to its fibrillogenic nature.

Published
2016

36. Towards a laboratory breadboard for PEGASE, the DARWIN pathfinder

Author

Cassaing, F., primary, Le Duigou, J.-M., additional, Sorrente, B., additional, Fleury, B., additional, Gorius, N., additional, Brachet, F., additional, Buisset, C., additional, Ollivier, M., additional, Hénault, F., additional, Mourard, D., additional, Rabbia, Y., additional, Delpech, M., additional, Guidotti, P.-Y., additional, Léger, A., additional, Barillot, M., additional, Rouan, D., additional, and Rousset, G., additional

Published
2017
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37. PEGASE: a free flying interferometer for the spectroscopy of giant exo-planets

Author

Le Duigou, J.-M., primary, Ollivier, M., additional, Léger, A., additional, Cassaing, F., additional, Sorrente, B., additional, Fleury, B., additional, Rousset, G., additional, Absil, O., additional, Mourard, D., additional, Rabbia, Y., additional, Escarrat, L., additional, Malbet, F., additional, Rouan, Daniel, additional, Clédassou, R., additional, Delpech, M., additional, Duchon, P., additional, Meyssignac, B., additional, Guidotti, P.-Y., additional, and Gorius, N., additional

Published
2017
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38. As-fabricated Nitride and Silicide Coated U-Mo Atomized Particles Complementary Microstructural Analyses

Author

Palancher, H., Iltis, X., Ryu, H., Lee, K., Jeong, Y., Park, J., Delpech, M., amplexor, amplexor, CEA-Direction de l'Energie Nucléaire (CEA-DEN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Korea Advanced Institute of Science and Technology (KAIST), Korea Atomic Energy Research Institute [Daejeon, south Korea] (KAERI), and CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN))

Subjects
[PHYS.NUCL] Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NUCL]Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2015

41. MEFV and TNFRSF1A gene mutations in patients suffering from AA amyloidosis

Author

Dode, C., Pecheux, C., Cattan, D., Hazenberg, B., Moulin, B., Barthelemy, A., Gubler, M-C., Delpech, M., and Grateau, G.

Subjects
Genetic disorders -- Research, Human chromosome abnormalities -- Research, Human genetics -- Research, Amyloidosis -- Genetic aspects, Sephardim -- Diseases, Turks -- Diseases, Armenians -- Diseases, North Africans -- Diseases, Caucasian race -- Diseases, Ethnic groups -- Genetic aspects, Biological sciences
Published
2001

42. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Author

Savarese, Mariarosaria, Di Fruscio, G., Tasca, Giorgio, Ruggiero, L., Janssens, S., De Bleecker, J., Delpech, M., Musumeci, O., Toscano, A., Angelini, C., Sacconi, S., Santoro, L., Ricci, Enzo, Claes, K., Politano, L., Nigro, V., Savarese M. (ORCID:0000-0003-0809-100X), Tasca G., Ricci E. (ORCID:0000-0003-3092-3597), Savarese, Mariarosaria, Di Fruscio, G., Tasca, Giorgio, Ruggiero, L., Janssens, S., De Bleecker, J., Delpech, M., Musumeci, O., Toscano, A., Angelini, C., Sacconi, S., Santoro, L., Ricci, Enzo, Claes, K., Politano, L., Nigro, V., Savarese M. (ORCID:0000-0003-0809-100X), Tasca G., and Ricci E. (ORCID:0000-0003-3092-3597)

Abstract

We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to investigate the role of ANO5 mutations in limb-girdle muscular dystrophies (LGMDs) and in nonspecific myopathies using the next generation sequencing (NGS) approach. In 160 LGMD patients, we first sequenced hotspot exons 5 and 20 and then sequenced the remaining part of the coding region. Another 626 patients, recruited using broader inclusion criteria, were directly analyzed by targeted NGS. By combining NGS and Sanger sequencing, we identified 33/786 (4%) patients carrying putative pathogenic changes in both alleles and 23 ANO5 heterozygotes (3%). The phenotypic spectrum is broader than expected, from hyperCKemia to myopathies, with lack of genotype/phenotype correlations. In particular, this is currently the largest screening of the ANO5 gene. The large number of heterozygotes for damaging mutations suggests that anoctaminopathies should be frequent and often nonpenetrant. We propose the multiple genetic testing by targeted NGS as a first step to analyze patients with nonspecific myopathic presentations. This represents a straightforward approach to overcome the difficulties of clinical heterogeneity of ANO5 patients, and to test, at the same time, many other genes involved in neuromuscular disorders.

Published
2015

43. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Author

Savarese, M, Di Fruscio, G, Tasca, Giorgio, Ruggiero, L, Janssens, S, De Bleecker, J, Delpech, M, Musumeci, O, Toscano, A, Angelini, C, Sacconi, S, Santoro, L, Ricci, Enzo, Claes, K, Politano, L, Nigro, V., Ricci, Enzo (ORCID:0000-0003-3092-3597), Savarese, M, Di Fruscio, G, Tasca, Giorgio, Ruggiero, L, Janssens, S, De Bleecker, J, Delpech, M, Musumeci, O, Toscano, A, Angelini, C, Sacconi, S, Santoro, L, Ricci, Enzo, Claes, K, Politano, L, Nigro, V., and Ricci, Enzo (ORCID:0000-0003-3092-3597)

Abstract

We studied 786 undiagnosed patients with LGMD or nonspecific myopathic features to investigate the role of ANO5 mutations in limb-girdle muscular dystrophies (LGMDs) and in nonspecific myopathies using the next generation sequencing (NGS) approach. In 160 LGMD patients, we first sequenced hotspot exons 5 and 20 and then sequenced the remaining part of the coding region. Another 626 patients, recruited using broader inclusion criteria, were directly analyzed by targeted NGS. By combining NGS and Sanger sequencing, we identified 33/786 (4%) patients carrying putative pathogenic changes in both alleles and 23 ANO5 heterozygotes (3%). The phenotypic spectrum is broader than expected, from hyperCKemia to myopathies, with lack of genotype/phenotype correlations. In particular, this is currently the largest screening of the ANO5 gene. The large number of heterozygotes for damaging mutations suggests that anoctaminopathies should be frequent and often nonpenetrant. We propose the multiple genetic testing by targeted NGS as a first step to analyze patients with nonspecific myopathic presentations. This represents a straightforward approach to overcome the difficulties of clinical heterogeneity of ANO5 patients, and to test, at the same time, many other genes involved in neuromuscular disorders.

Published
2015

45. DEPISTAGE GENOTYPIQUE DES CONDUCTRICES DE L’HEMOPHILIE A

Author

BELMAHI, L., BENOUACHANE, T., VIEMONT, M., MAANI, K., HADJ KHALIFA, H., M’SEFFER ALAOUI, F., DELPECH, M., and SEFIANI, A.

Subjects
Hémophilie A - diagnostic génotypique - dépistage des conductrices
Abstract

Le diagnostic génotypique des femmes conductrices constitue une étape importante dans la prise en charge par le généticien des familles d’hémophiles. Nous rapportons dans ce travail les résultats d’une étude génétique qui a porté sur 10 familles d’hémophiles A. Sur un total de 47 femmes ayant à priori un risque d’être porteuses de la maladie du fait de leur apparenté avec un patient hémophile, 27 ont souhaité savoir si elles sont ou non conductrices. L’étude moléculaire nous a permis de rassurer 15 femmes non condutrices de la maladie. Par contre 12 autres sont porteuses du gène morbide et ont par conséquent un risque de 50% de transmettre la maladie à leurs enfants de sexe masculin. Ces femmes à risque, peuvent si elles le souhaitent, demander à bénéficier d’un diagnostic prénatal., Maroc Médical, Vol. 23, No 3 (2001)

Published
2013
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49. PRISMA

Author

D'Amico, S., Bodin, P., Delpech, M., and Noteborn, R.

Subjects
on-orbit servicing, formation flying, PRISMA, autonomy, navigation, control, spaceflight technology, guidance, flight results
Published
2012

50. Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations

Author

Niel-Butschi F, Kantelip B, Iwaszkiewicz J, Zoete V, Boimard M, Delpech M, Jl, Bourges, Renard G, D'Hermies F, Pj, Pisella, Hamel C, Delbosc B, Sophie Valleix, Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC ( CEF2P / CARCINO ), Université Bourgogne Franche-Comté ( UBFC ) -Université de Franche-Comté ( UFC ) -Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ), Laboratoire d'anatomie pathologique [Besancon], Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Hôpital Jean Minjoz-Université de Franche-Comté ( UFC ), Hôtel-Dieu, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 ( UPD5 ), Centre de référence des affections sensorielles d'origine génétique, Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Gui De Chaulliac, Service d'ophtalmologie [Besançon], Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Hôpital Jean Minjoz, Laboratoire de Biochimie et Génétique Moléculaire, Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) (CEF2P / CARCINO), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Service d'Anatomie pathologique [CHRU Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui De Chaulliac, Service d'ophtalmologie [CHRU Besançon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5), Viala, Pascale, Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Université de Franche-Comté (UFC), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Jean Minjoz-Université de Franche-Comté (UFC), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôtel-Dieu-Université Paris Descartes - Paris 5 (UPD5), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Hôpital Jean Minjoz, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5), Carcinogénèse épithéliale : facteurs prédictifs et pronostiques - UFC (EA 3181) ( CEF2P / CARCINO ), and Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ) -Université Bourgogne Franche-Comté [COMUE] ( UBFC ) -Université de Franche-Comté ( UFC )

Subjects
Male, Models, Molecular, MESH: Extracellular Matrix Proteins, MESH : Molecular Sequence Data, MESH : Algeria, Genetic Linkage, MESH : Genotype, MESH: Amino Acid Sequence, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, MESH: Genotype, MESH: Aged, 80 and over, Gene Frequency, Transforming Growth Factor beta, MESH : Gene Frequency, MESH : Female, Bowman Membrane, MESH: Genetic Association Studies, Aged, 80 and over, Corneal Dystrophies, Hereditary, Extracellular Matrix Proteins, MESH: Middle Aged, MESH : Amino Acid Sequence, MESH : Infant, Middle Aged, MESH : Adult, MESH: Infant, Pedigree, MESH : Phenotype, Phenotype, Female, France, MESH : Mutation, MESH: Algeria, MESH: Models, Molecular, Research Article, Adult, MESH: Mutation, Genotype, MESH: Pedigree, MESH : Models, Molecular, MESH : Bowman Membrane, MESH : Male, Molecular Sequence Data, MESH: Genetic Linkage, MESH: Corneal Dystrophies, Hereditary, [SDV.CAN]Life Sciences [q-bio]/Cancer, MESH: Phenotype, MESH : Extracellular Matrix Proteins, [SDV.CAN] Life Sciences [q-bio]/Cancer, Algeria/ethnology, Alleles, Amino Acid Sequence, Bowman Membrane/metabolism, Bowman Membrane/pathology, Corneal Dystrophies, Hereditary/classification, Corneal Dystrophies, Hereditary/epidemiology, Corneal Dystrophies, Hereditary/ethnology, Corneal Dystrophies, Hereditary/genetics, Corneal Dystrophies, Hereditary/pathology, Extracellular Matrix Proteins/genetics, Extracellular Matrix Proteins/metabolism, France/epidemiology, Genetic Association Studies, Humans, Infant, Mutation, Transforming Growth Factor beta/genetics, Transforming Growth Factor beta/metabolism, MESH: Gene Frequency, MESH : Middle Aged, MESH : Aged, 80 and over, MESH : France, MESH: Transforming Growth Factor beta, MESH: Humans, MESH: Molecular Sequence Data, MESH: Alleles, MESH : Humans, MESH: Adult, MESH : Genetic Association Studies, MESH : Genetic Linkage, MESH: Male, eye diseases, MESH: France, MESH : Transforming Growth Factor beta, Algeria, MESH : Pedigree, MESH : Corneal Dystrophies, Hereditary, MESH : Alleles, MESH: Female, MESH: Bowman Membrane
Abstract

International audience; PURPOSE: Investigate the genotype-phenotype correlations for five TGFBI (transforming growth factor, beta-induced) mutations including one novel pathogenic variant and one complex allele affecting the fourth FAS1 domain of keratoepithelin, and their potential effects on the protein's structure. METHODS: Three unrelated families were clinically diagnosed with lattice corneal dystrophy (CD) and one with an unclassified CD of Bowman's layer. Mutations in the TGFBI gene were detected by direct sequencing, and the functional impact of each variant was predicted using in silico algorithms. Corneal phenotypes, including histological examinations, were compared with the literature data. Furthermore, molecular modeling studies of these mutations were performed. RESULTS: Two distinct missense mutations affecting the same residue at position 509 of keratoepithelin: p.Leu509Pro (c.1526T>C) and p.Leu509Arg (c.1526T>G) were found to be associated with a lattice-type CD. The novel p.Val613Gly (c.1828T>G) TGFBI mutation was found in a sporadic case of an Algerian individual affected by lattice CD. Finally, the Bowman's layer CD was linked to the association in cis of the p.Met502Val and p.Arg555Gln variants, leading to the reclassification of this CD as atypical Thiel-Behnke CD. Structural modeling of these TGFBI mutations argues in favor of these mutations being responsible for instability and/or incorrect folding of keratoepithelin, predictions that are compatible with the clinical diagnoses. CONCLUSIONS: Description of a novel TGFBI mutation and a complex TGFBI allele further extends the mutational spectrum of TGFBI. Moreover, we show convincing evidence that TGFBI mutations affecting Leu509 are linked to the lattice phenotype in two unrelated French families, contrasting with findings previously reported. The p.Leu509Pro was reported to be associated with both amyloid and non-amyloid aggregates, whereas p.Leu509Arg has been described as being responsible for Epithelial Basement Membrane Dystrophy (EBMD).

Published
2011

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