Professeur des universités en sciences de gestion
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Predicting diabetes - clinical, biological and genetic approaches: the D.E.S.I.R. Study.
- Type de publi. : Article dans une revue
- Date de publi. : 08/08/2008
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Auteurs :
Beverley BalkauCéline LangeLeopold FezeuJean TichetBlandine de Lauzon-GuillainSébastien CzernichowFrédéric FumeronPhillippe FroguelMartine VaxillaireStephane CauchiPierre DucimetièreEveline Eschwège
Fiche détaillée
Predicting diabetes - clinical, biological and genetic approaches: the D.E.S.I.R. Study.
- Type de publi. : Article dans une revue
- Date de publi. : 08/08/2008
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Auteurs :
Beverley BalkauCéline LangeLeopold FezeuJean TichetBlandine de Lauzon-GuillainSébastien CzernichowFrédéric FumeronPhillippe FroguelMartine VaxillaireStephane CauchiPierre DucimetièreEveline Eschwège
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Organismes :
Recherche en épidémiologie et biostatistique
Recherche en épidémiologie et biostatistique
Recherche en épidémiologie et biostatistique
Institut inter-Régional pour la SAnté
Recherche en épidémiologie et biostatistique
Nutrition, hormones et cancer: épidémiologie et prévention
Unité de Recherche en Epidémiologie Nutritionnelle
Déterminants génétiques du diabète de type 2 et de ses complications vasculaires
Génétique des maladies multifactorielles
Génétique des maladies multifactorielles
Génétique des maladies multifactorielles
Recherche en épidémiologie et biostatistique
Recherche en épidémiologie et biostatistique
- Publié dans Diabetes Care le 01/11/2020
Résumé : Objectives- To provide a simple clinical diabetes risk score; to identify characteristics which predict later diabetes using variables available in clinic, then additionally biological variables and polymorphisms. Research design and methods- Incident diabetes was studied in 1863 men and 1954 women, 30-65 years at baseline, by treatment or by fasting plasma glucose >/= 7.0 mmol/l at 3-yearly examinations over nine years. Sex-specific logistic regression equations were used to select variables for prediction. Results- 140 men, 63 women developed diabetes. The predictive clinical variables were: waist circumference and hypertension in both sexes; for men: smoking, for women: diabetes in the family. Discrimination, as measured by the areas under the receiver operating curves (AROC), were 0.713 for men and 0.827 for women, a little higher than for the FINDRISC score, with fewer variables in the score. Combining clinical and biological variables, the predictive equation included for men: fasting glucose, waist circumference, smoking, square-glutamyltransferase; for women fasting glucose, BMI, triglycerides, diabetes in family. The number of TCF7L2 and IL6 deleterious alleles was predictive in both sexes, but after including the above clinical and biological variables, this variable was only predictive in women (p < 0.03) and the AROC statistics increased only marginally. Conclusions- The best clinical predictor of diabetes is adiposity, and baseline glucose is the best biological predictor. Clinical and biological predictors differed marginally between men and women. The genetic polymorphisms added little to the prediction of diabetes.
Fichiers liés :
diabetes_riskscore.pdf
Diapositive.pdf
Diapositive1.pdf
Diapositive2.pdf
TABLE.pdf
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Jurassic and cretaceous radiolarian biostratigraphy of the Pichakun and Hawasina basins
- Type de publi. : Communication dans un congrès
- Date de publi. : 06/08/2008
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Auteurs :
S. GoricanCécile RobinFrançois GuillocheauFanch BéchennecJean MarcouxPhilippe RazinPatrick de Wever
Fiche détaillée
Jurassic and cretaceous radiolarian biostratigraphy of the Pichakun and Hawasina basins
- Type de publi. : Communication dans un congrès
- Date de publi. : 06/08/2008
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Auteurs :
S. GoricanCécile RobinFrançois GuillocheauFanch BéchennecJean MarcouxPhilippe RazinPatrick de Wever
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Organismes :
Géosciences Rennes
Géosciences Rennes
Bureau de Recherches Géologiques et Minières
Institut de Physique du Globe de Paris
Paléobiodiversité et paléoenvironnements
Résumé : The Pichakun Nappes in Iran and the Hawasina Nappes in Oman are excellently preserved examples of deep-water Mesozoic basins developed on the southern Tethyan margin. Jurassic to Cretaceous successions consisting of radiolarian cherts, shales and carbonate gravity-flow deposits are beautifully exposed. Because carbonate plankton are absent in these sucessions and scarce benthos occur only in resedimented limestones, radiolarians are virtually the only fossils enabling age determination. The proximal-to-distal facies reconstruction is based on 5 sections from the Neyriz area in the Zagros Range and 15 sections from the Sumeini, Hamrat Duru and Al Aridh groups in the Oman Mountains. Several correlative intervals dominated by radiolarian cherts and shales were recognized in the Lower Jurassic to Upper Cretaceous successions. The oldest package of radiolarian chert is Pliensbachian to early Toarcian in age. This interval is recorded in Oman whereas in Iran the sediments of this age are not exposed. An increase of siliceous deposits is then recognized in the upper Aalenian to upper Bajocian and in the Callovian to Berriasian with a maximum in the middle-upper Oxfordian to lower Tithonian. The Callovian to Berriasian record is complete in Iran but includes a stratigraphic gap in some sections from Oman. The most prominent hiatus is documented in the Al Aridh Group, where the upper Bajocian-lower Bathonian and Tithonian cherts are in direct contact. The most distal succession records a continuous sedimentation of cherts and shales from the Callovian to the Barremian. The youngest siliceous interval is assigned to the Aptian to Cenomanian or lower Turonian and, in both regions, includes megabreccias composed of platform-limestone blocks. Overall, the Jurassic to Cretaceous successions of the Pichakun and Hawasina basins correlate well with Mesozoic basins of the western Mediterranean, especially those that were located close to a carbonate platform. In these basins the areal extent of radiolarian chert and/or shale was determined primarily by the amount of carbonate supply from the adjacent platforms. The intervals with prevailing background sedimentation are roughly synchronous in the Southern Alps (Belluno Basin), Dinarides (Slovenian and Budva basins), Hellenides (Pindos Basin), and in the Pichakun and Hawasina basins. The minimum extent of radiolarian chert is recorded in the Bathonian, which is regionally characterized by oolitic megabeds. However, a distinct difference is recorded in pelagic-facies changes just below the Jurassic-Cretaceous boundary. In the Pichakun and Hawasina basins shales are rather abruptly overlain by pure radiolarian chert, whereas in the more western Tethyan basins a transition from chert to pelagic limestone (biancone or maiolica facies) occurs at this level. The mid-Cretaceous silica-rich deposits are again a Tethyan-wide phenomenon and in the correlated basins contain limestone breccias related to regional tectonic events.
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EARLINET: the European Aerosol Research Lidar Network for the Aerosol Climatology on Continental Scale
- Type de publi. : Communication dans un congrès
- Date de publi. : 03/08/2008
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Auteurs :
Gelsomina PappalardoJens BösenbergAldo AmodeoAlbert AnsmannArnoud ApituleyLucas Alados ArboledasDimitris BalisChristine BöckmannAnatoly ChaikovskyAdolfo ComeronGiuseppe d'AmicoVolker FreudenthalerIvan GrigorovGeorg HansenHolger LinnèStefan KinneIna MattisLucia MonaDetlef MuellerValentin MitevDoina NicolaeAlexandros PapayannisMaria Rita PerroneAleksander PietruczukManuel PujadasJean-Philippe PutaudFrançois RavettaVincenzo RiziValentin SimeonovNicola SpinelliThomas TricklUlla WandingerMatthias Wiegner
Fiche détaillée
EARLINET: the European Aerosol Research Lidar Network for the Aerosol Climatology on Continental Scale
- Type de publi. : Communication dans un congrès
- Date de publi. : 03/08/2008
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Auteurs :
Gelsomina PappalardoJens BösenbergAldo AmodeoAlbert AnsmannArnoud ApituleyLucas Alados ArboledasDimitris BalisChristine BöckmannAnatoly ChaikovskyAdolfo ComeronGiuseppe d'AmicoVolker FreudenthalerIvan GrigorovGeorg HansenHolger LinnèStefan KinneIna MattisLucia MonaDetlef MuellerValentin MitevDoina NicolaeAlexandros PapayannisMaria Rita PerroneAleksander PietruczukManuel PujadasJean-Philippe PutaudFrançois RavettaVincenzo RiziValentin SimeonovNicola SpinelliThomas TricklUlla WandingerMatthias Wiegner
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Organismes :
Istituto di Metodologie per l'Analisi Ambientale
Max-Planck-Institut für Meteorologie
Istituto di Metodologie per l'Analisi Ambientale
Leibniz Institute for Tropospheric Research
National Institute for Public Health and the Environment [Bilthoven]
Universidad de Granada = University of Granada
Laboratory of Atmospheric Physics [Thessaloniki]
Institut für Mathematik [Potsdam]
B. I. Stepanov Institute of Physics [Minsk]
Universitat Politècnica de Catalunya = Université polytechnique de Catalogne = Polytechnic University of Catalunya [Barcelona]
Istituto di Metodologie per l'Analisi Ambientale
Ludwig Maximilian University [Munich] = Ludwig Maximilians Universität München
Institute of Electronics [Sofia]
Norwegian Institute for Air Research
Max-Planck-Institut für Meteorologie
Max-Planck-Institut für Meteorologie
Leibniz Institute for Tropospheric Research
Istituto di Metodologie per l'Analisi Ambientale
Leibniz Institute for Tropospheric Research
Centre Suisse d'Electronique et Microtechnique SA
National Institute of Research and Development for Optoelectronics
National Technical University of Athens
Università del Salento = University of Salento [Lecce]
Institute of Geophysics [Warsaw]
Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas
JRC Institute for Environment and Sustainability
Service d'aéronomie
Dipartimento di Fisica [L'Aquila]
Ecole Polytechnique Fédérale de Lausanne
Consorzio Nazionale Interuniversitario per le Scienze FIsiche della Materia
Institut für Meteorologie und Klimaforschung - Atmosphärische Umweltforschung
Leibniz Institute for Tropospheric Research
Ludwig Maximilian University [Munich] = Ludwig Maximilians Universität München
Résumé : Lidar techniques represent the most suitable tool to obtain information on the aerosol vertical distribution and therefore to close this kind of observational gap. Lidar networks are fundamental to study aerosol on large spatial scale and to investigate transport and modification phenomena. These are the motivations why EARLINET, the European Aerosol Research Lidar Network, was established in 2000, as a research program funded by the European Commission in the frame of the 5th framework program. After the end of the project, the network activity continued on the base of a voluntary association. At present, EARLINET consists of 25 lidar stations distributed over Europe. On March 2006, the EC Project EARLINET-ASOS (Advanced Sustainable Observation System) started on the base of the EARLINET infrastructure. This infrastructure project will enhance the operation of the network. EARLINET data can contribute significantly to the quantification of aerosol concentrations, radiative properties, long-range transport and budget, and prediction of future trends on European and global scale. It can also contribute to improve model treatment on a wide range of scales and to a better exploitation of present and future satellite data
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Antioxidant and Free Radical Scavenging Properties of Marennine, a Blue-Green Polyphenolic Pigment from the Diatom Haslea ostrearia (Gaillon/Bory) Simonsen Responsible for the Natural Greening of Cultured Oysters
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Jean-Bernard PouvreauFrédéric TaranPhilippe RosaSerge PinJoël FleurencePierre Pondaven
Fiche détaillée
Antioxidant and Free Radical Scavenging Properties of Marennine, a Blue-Green Polyphenolic Pigment from the Diatom Haslea ostrearia (Gaillon/Bory) Simonsen Responsible for the Natural Greening of Cultured Oysters
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Jean-Bernard PouvreauFrédéric TaranPhilippe RosaSerge PinJoël FleurencePierre Pondaven
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Organismes :
Laboratoire de biologie et pathologie végétales
Laboratoire de biologie et pathologie végétales
- Publié dans Journal of Agricultural and Food Chemistry le 02/11/2020
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Parieto-frontal gamma band activity during the perceptual emergence of speech forms
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Anahita BasiratMarc SatoJean-Luc SchwartzPhilippe KahaneJean-Philippe Lachaux
Fiche détaillée
Parieto-frontal gamma band activity during the perceptual emergence of speech forms
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Anahita BasiratMarc SatoJean-Luc SchwartzPhilippe KahaneJean-Philippe Lachaux
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Organismes :
GIPSA - Parole, Multimodalité, Développement
GIPSA - Parole, Multimodalité, Développement
Centre for Research on Language Mind and Brain
GIPSA - Parole, Multimodalité, Développement
Département de neurologie
Grenoble Institut des Neurosciences
Dynamique Cérébrale et Cognition
- Publié dans NeuroImage le 01/11/2020
Résumé : The multistable perception of speech refers to the perceptual changes experienced while listening to a speech form cycled in rapid and continuous repetition, the so-called Verbal Transformation Effect. Because distinct interpretations of the same repeated stimulus alternate spontaneously, this effect provides an invaluable tool to examine how speech percepts are formed in the listener's mind. In order to track the temporal dynamics of brain activity specifically linked to perceptual changes, intracerebral EEG activity was recorded from two implanted epileptic patients while performing a verbal transformation task. To this aim, they were asked to carefully listen to a speech sequence played repeatedly and to press a button whenever they perceived a change in the repeated utterance. For both patients, 300-800 ms prior to the reported perceptual transitions, high frequency activity in the gamma band range (>40 Hz) was observed within the left inferior frontal and supramarginal gyri. An additional auditory decision task was used to rule out the possibility that the increased gamma band activity was due to the patients' motor responses. These results suggest that articulatory-based representations play a key part in the endogenously driven emergence of auditory speech percepts. The findings are interpreted in relation to theories assuming a link between perception and action in the human speech processing system.
Fichiers liés :
Basirat_Neuroimage_2008.pdf
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Bio-inspired hydrogen production/uptake catalysis
- Type de publi. : Ouvrage (y compris édition critique et traduction)
- Date de publi. : 01/08/2008
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Auteurs :
Philippe P. SchollhammerJean Talarmin
Fiche détaillée
Bio-inspired hydrogen production/uptake catalysis
- Type de publi. : Ouvrage (y compris édition critique et traduction)
- Date de publi. : 01/08/2008
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Auteurs :
Philippe P. SchollhammerJean Talarmin
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Organismes :
Chimie, Electrochimie Moléculaires et Chimie Analytique
Chimie, Electrochimie Moléculaires et Chimie Analytique
Résumé : It was a great pleasure for us to accept the invitation of Pierre Braunstein, Editor-in-Chief of the Comptes Rendus Chimie , to guest-edit this thematic issue. We chose to devote it to an exciting field of research, which concerns the production and the oxidation of hydrogen by bio-inspired catalysts. Indeed, the development of economic and ecological processes of hydrogen production/uptake is a major goal in the perspective of a hydrogen economy. This thematic issue, entitled Bio-inspired hydrogen production/uptake catalysis , is dedicated to the chemists' efforts, in this multidisciplinary field at the interface of chemistry and biology, to conceive and to study new molecules inspired by the active sites of the [NiFe] and [FeFe] hydrogenases. The ultimate purpose of these theoretical and experimental studies is to achieve efficient electrocatalysts for the production or the oxidation of hydrogen through a better understanding of the mechanisms implied at the molecular level. We thank Pierre Braunstein very warmly for his invitation, as well as all the colleagues whose contributions allowed the edition of this thematic issue, which, we hope, will contribute to illustrate different aspects of the research performed by chemists in this challenging field.
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(1)H MR spectroscopy of human brain tumours: a practical approach.
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Virginie CallotDamien GalanaudYann Le FurSylviane Confort-GounyJean‐philippe RanjevaPatrick J Cozzone
Fiche détaillée
(1)H MR spectroscopy of human brain tumours: a practical approach.
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Virginie CallotDamien GalanaudYann Le FurSylviane Confort-GounyJean‐philippe RanjevaPatrick J Cozzone
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Organismes :
Centre de résonance magnétique biologique et médicale
CHU Pitié-Salpêtrière [AP-HP]
Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière
Géoarchitecture : Territoires, Urbanisation, Biodiversité, Environnement
Centre de résonance magnétique biologique et médicale
Centre de résonance magnétique biologique et médicale
Centre de résonance magnétique biologique et médicale
- Publié dans European Journal of Radiology le 22/10/2020
Résumé : Magnetic resonance spectroscopy (MRS) is proposed in addition to magnetic resonance imaging (MRI) to help in the characterization of brain tumours by detecting metabolic alterations that may be indicative of the tumour class. MRS can be routinely performed on clinical magnets, within a reasonable acquisition time and if performed under adequate conditions, MRS is reproducible and thus can be used for longitudinal follow-up of treatment. MRS can also be performed in clinical practice to guide the neurosurgeon into the most aggressive part of the lesions or to avoid unnecessary surgery, which may furthermore decrease the risk of surgical morbidity.
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Dynamics of Poly( l -lysine) in Hyaluronic Acid/Poly( l -lysine) Multilayer Films Studied by Fluorescence Recovery after Pattern Photobleaching
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Laurent JourdainneSigolène LecuyerYouri ArntzCatherine PicartPierre SchaafBernard SengerJean-Claude VoegelPhilippe LavalleThierry Charitat
Fiche détaillée
Dynamics of Poly( l -lysine) in Hyaluronic Acid/Poly( l -lysine) Multilayer Films Studied by Fluorescence Recovery after Pattern Photobleaching
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Laurent JourdainneSigolène LecuyerYouri ArntzCatherine PicartPierre SchaafBernard SengerJean-Claude VoegelPhilippe LavalleThierry Charitat
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Organismes :
Département de Photochimie Générale
Institut Gilbert-Laustriat : Biomolécules, Biotechnologie, Innovation Thérapeutique
Laboratoire des matériaux et du génie physique
Institut Charles Sadron
Biomatériaux et Bioingénierie
Biomatériaux et ingénierie tissulaire
Biomatériaux et Bioingénierie
Institut Charles Sadron
- Publié dans Langmuir le 27/10/2020
Résumé : Poly(l-lysine) (PLL)/hyaluronic acid (HA) multilayers are films whose thickness increases exponentially with the number of deposition steps. Such a growth process was attributed to the diffusion, in and out of the whole film, of at least one of the polyelectrolytes constituting the film. In the case of PLL/HA, PLL is known to be the diffusing species. In order to better understand the growth mechanism of such films, it is of primary importance to well characterize the diffusion process of the polyelectrolytes in the multilayer. This process is studied here by fluorescence recovery after pattern photobleaching. We show that the diffusion behavior is different when we consider either PLL chains that are deposited on top of the film or PLL chains embedded in the film, even below only one HA layer. For chains that are embedded, we find two populations: a mobile one with a diffusion coefficient, D, of the order of 0.1 µm2·s−1 and a population that appears immobile (D < 0.001 µm2·s−1). For chains deposited on top of the multilayer, a third population appears which is rapidly diffusing (D ≅ 1 µm2·s−1). These results confirm the validity of the model generally accepted for the exponential growth process and in particular the existence of up to three subgroups of PLL chains from the point of view of their diffusion coefficient.
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Large-amplitude Love waves
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Elizabete Rodrigues FerreiraPhilippe BoulangerMichel Destrade
Fiche détaillée
Large-amplitude Love waves
- Type de publi. : Article dans une revue
- Date de publi. : 01/08/2008
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Auteurs :
Elizabete Rodrigues FerreiraPhilippe BoulangerMichel Destrade
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Organismes :
Département de Mathématique [Bruxelles]
Département de Mathématique [Bruxelles]
Institut Jean Le Rond d'Alembert
- Publié dans Quarterly Journal of Mechanics and Applied Mathematics le 27/10/2020
Résumé : In the context of the finite elasticity theory, we consider a model for compressible solids called 'compressible neo-Hookean material'. We show how finite-amplitude inhomogeneous plane wave solutions and finite-amplitude unattenuated solutions can combine to form a finite-amplitude Love wave. We take a layer of finite thickness overlying a solid half-space, both made of different prestressed compressible neo-Hookean materials. We derive an exact solution of the equations of motion and boundary conditions and also obtain results for the energy density and the energy flux of the waves. Finally, we investigate the special case when the interface between the layer and the substrate is in a principal plane of the prestrain. A numerical example is given.
Fichiers liés :
destrade_42_preprint.pdf
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The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
- Type de publi. : Article dans une revue
- Date de publi. : 22/07/2008
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Auteurs :
Fabienne LesueurMahaut de LichyMichel BarroisGuillermo DurandJohny BombledMarie-Francoise AvrilAgnès ChompretFrançoise BoitierGilbert M LenoirMonique BaccardBertrand BacholletPascaline BerthetValérie BonadonaJean-Marie BonnetblancJacqueline Chevrant-BretonJean-Francois CunyStéphane DalleMichèle DelaunayLiliane DemangeJulie De QuatrebarbesJean-François DoréMarc FrénayJean-Pierre FrickerMarion Gauthier-VillarsPaul GestaSophie GiraudPhilippe GorryFlorent GrangeAndrew GreenLaetitia HuiartNicolas JaninPascal JolyDelphine KerobChristine LassetDominique LerouxJean-Marc LimacherMichel LongySandrine MansardKarine MarrouTanguy Martin-DenavitChristine MateusEve MaubecLaurence Olivier-FaivreVincent OrlandiniPascal PujolBruno SassolasDominique Stoppa-LyonnetLuc ThomasPierre VabresLaurence VenatEwa Hainaut-WierzbickaHelene ZattaraBrigitte Bressac-de Paillerets
Fiche détaillée
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
- Type de publi. : Article dans une revue
- Date de publi. : 22/07/2008
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Auteurs :
Fabienne LesueurMahaut de LichyMichel BarroisGuillermo DurandJohny BombledMarie-Francoise AvrilAgnès ChompretFrançoise BoitierGilbert M LenoirMonique BaccardBertrand BacholletPascaline BerthetValérie BonadonaJean-Marie BonnetblancJacqueline Chevrant-BretonJean-Francois CunyStéphane DalleMichèle DelaunayLiliane DemangeJulie De QuatrebarbesJean-François DoréMarc FrénayJean-Pierre FrickerMarion Gauthier-VillarsPaul GestaSophie GiraudPhilippe GorryFlorent GrangeAndrew GreenLaetitia HuiartNicolas JaninPascal JolyDelphine KerobChristine LassetDominique LerouxJean-Marc LimacherMichel LongySandrine MansardKarine MarrouTanguy Martin-DenavitChristine MateusEve MaubecLaurence Olivier-FaivreVincent OrlandiniPascal PujolBruno SassolasDominique Stoppa-LyonnetLuc ThomasPierre VabresLaurence VenatEwa Hainaut-WierzbickaHelene ZattaraBrigitte Bressac-de Paillerets
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Organismes :
Génomes et cancer
Institut Gustave Roussy
Vectorologie et transfert de gènes
Service de Génétique [Villejuif]
Hématopoïèse normale et pathologique
Service de Dermatologie [CHU Cochin]
Département de médecine oncologique [Gustave Roussy]
Université Claude Bernard Lyon 1
Hôpital Michallon
Centre Régional de Lutte contre le Cancer François Baclesse [Caen]
Equipe de Recherche Médicale Appliquée
Service de Dermatologie [Rennes] = Dermatology [Rennes]
Service de Dermatologie et Allergologie [CHRU Nancy]
Institut de Génomique Fonctionnelle
Centre Hospitalier Annecy-Genevois [Saint-Julien-en-Genevois]
Oncogénèse et progression tumorale
Groupe de Recherche en Economie Théorique et Appliquée
Hôpital universitaire Robert Debré [Reims]
Luxembourg Institute of Health
Biostatistiques santé [LBBE]
Hôpital pasteur [Colmar]
CHU Estaing [Clermont-Ferrand]
Service de dermatologie [Gustave Roussy]
Service de dermatologie [Avicenne]
Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
Centre Hospitalier Régional Universitaire [Montpellier]
Département de Médecine Interne et Pneumologie [Brest]
Pathologie moléculaire des cancers
Laboratoire Electronique, Informatique et Image [UMR6306]
Institut Gustave Roussy
- Publié dans British Journal of Cancer le 29/10/2020
Résumé : Mutations in two genes encoding cell cycle regulatory proteins have been shown to cause familial cutaneous malignant melanoma (CMM). About 20% of melanoma-prone families bear a point mutation in the CDKN2A locus at 9p21, which encodes two unrelated proteins, p16(INK4a) and p14(ARF). Rare mutations in CDK4 have also been linked to the disease. Although the CDKN2A gene has been shown to be the major melanoma predisposing gene, there remains a significant proportion of melanoma kindreds linked to 9p21 in which germline mutations of CDKN2A have not been identified through direct exon sequencing. The purpose of this study was to assess the contribution of large rearrangements in CDKN2A to the disease in melanoma-prone families using multiplex ligation-dependent probe amplification. We examined 214 patients from independent pedigrees with at least two CMM cases. All had been tested for CDKN2A and CDK4 point mutation, and 47 were found positive. Among the remaining 167 negative patients, one carried a novel genomic deletion of CDKN2A exon 2. Overall, genomic deletions represented 2.1% of total mutations in this series (1 of 48), confirming that they explain a very small proportion of CMM susceptibility. In addition, we excluded a new gene on 9p21, KLHL9, as being a major CMM gene.
Fichiers liés :
6604470.pdf
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