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2. Territoire académique et identité professionnelle: vers une différenciation des pratiques enseignantes à l’université

Author

Bridoux², Stéphanie, de Hosson, Cécile, de Vleeschouwer, Martine, Grenier-Boley, Nicolas, Khanfour-Armalé, Rita, Lebrun, N., Leininger-Frézal, Caroline, Nihoul, Céline, Khanfour-Armalé, Rita, Laboratoire de Didactique André Revuz (LDAR (EA_4434)), Université d'Artois (UA)-Université Paris Diderot - Paris 7 (UPD7)-Université de Cergy Pontoise (UCP), Université Paris-Seine-Université Paris-Seine-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université de Namur [Namur] (UNamur), Université Paris 13 (UP13), Laboratoire de Didactique André Revuz (LDAR (URP_4434)), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Lille-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Université Paris Cité (UPCité)-CY Cergy Paris Université (CY), Institut de Mathématiques [Mons], and Université de Mons (UMons)

Subjects
[SHS.EDU]Humanities and Social Sciences/Education, [CHIM] Chemical Sciences, [SHS.EDU] Humanities and Social Sciences/Education, [CHIM]Chemical Sciences, [SHS] Humanities and Social Sciences, [SHS]Humanities and Social Sciences
Abstract

International audience

Published
2023

5. Acute renal failure as severe malaria complication in Lubumbashi: Management and follow-up in an under-equipped setting

Author

Augustin Mulangu Mutombo, Lebrun N. Kembo, Oscar Numbi Luboya, Stéphanie L. Ngimbi, Michel N. Kabamba, Olivier Mukuku, Matthieu I. Ngombe, Eva K. Bukasa, André Kabamba Mutombo, Deddy C. Kalonji, Alex K. Lumande, Stanislas Okitotsho Wembonyama, and Patient N. Mudait

Subjects
Kidney, Pediatrics, medicine.medical_specialty, business.industry, medicine.medical_treatment, Acute kidney injury, Mean age, medicine.disease, Psychiatry and Mental health, medicine.anatomical_structure, Blood smear, medicine, Severe Malaria, business, Complication, Dialysis, Malaria
Abstract

Purpose Acute renal failure (ARF) or acute kidney injury (AKI) is one of the major criteria for the severity of malaria according to WHO. The objective was to determine the frequency as well as to evaluate the management and follow-up of ARF during malaria in children in Lubumbashi. Material and methods This is a descriptive cross-sectional study over 48 months (January 1st, 2016 to December 30th, 2019) carried out at the pediatric service of the University Clinics of Lubumbashi. All children with an ARF with a positive thick blood smear were included in the study. Data were analyzed with SPSS 19 software. Results During this period, 910 patients (49.1%) were admitted for malaria. Among them, 14 patients, i.e. an intra-hospital prevalence of 0.78%, of which 6 boys (42.9%) and 8 girls (57.1%) had ARF. The mean age is 7.9±3.5 years. The serum creatinine level was between 0.54 and 15.2 mg/dL with a mean of 5.7 mg/dL. Kidney dialysis was only effective in 3 patients (21.4%) and diuretics were given 100% in all children. The mean length of stay was 13.4±8.7 days (range: 1 day and 18 days). Mortality was 21.4%. Conclusion The present study shows that ARF in childhood malaria in Lubumbashi is infrequent but of high mortality in our environment with limited resources where care is lacking and monitoring difficult.

Published
2020

6. Academic territory and professional identity: towards a differentiation of teaching practices at the university

Author

Bridoux², Stéphanie, de Hosson, Cécile, de Vleeschouwer, Martine, Grenier-Boley, Nicolas, Khanfour-Armalé, Rita, Lebrun, N., Nihoul, Céline, Laboratoire de Didactique André Revuz (LDAR (EA_4434)), Université d'Artois (UA)-Université Paris Diderot - Paris 7 (UPD7)-Université de Cergy Pontoise (UCP), Université Paris-Seine-Université Paris-Seine-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Université Paris 13 (UP13), Laboratoire de Didactique André Revuz (LDAR (URP_4434)), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Lille-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Université Paris Cité (UPCité)-CY Cergy Paris Université (CY), Institut de Mathématiques [Mons], Université de Mons (UMons), and Khanfour-Armalé, Rita

Subjects
[SHS.EDU]Humanities and Social Sciences/Education, [CHIM] Chemical Sciences, [SHS.EDU] Humanities and Social Sciences/Education, [CHIM]Chemical Sciences, [SHS] Humanities and Social Sciences, [SHS]Humanities and Social Sciences
Abstract

International audience

Published
2022

8. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H, Haas, S A, Chelly, J, Van Esch, H, Raynaud, M, de Brouwer, A PM, Weinert, S, Froyen, G, Frints, S GM, Laumonnier, F, Zemojtel, T, Love, M I, Richard, H, Emde, A-K, Bienek, M, Jensen, C, Hambrock, M, Fischer, U, Langnick, C, Feldkamp, M, Wissink-Lindhout, W, Lebrun, N, Castelnau, L, Rucci, J, Montjean, R, Dorseuil, O, Billuart, P, Stuhlmann, T, Shaw, M, Corbett, M A, Gardner, A, Willis-Owen, S, Tan, C, Friend, K L, Belet, S, van Roozendaal, K EP, Jimenez-Pocquet, M, Moizard, M-P, Ronce, N, Sun, R, OʼKeeffe, S, Chenna, R, van Bömmel, A, Göke, J, Hackett, A, Field, M, Christie, L, Boyle, J, Haan, E, Nelson, J, Turner, G, Baynam, G, Gillessen-Kaesbach, G, Müller, U, Steinberger, D, Budny, B, Badura-Stronka, M, Latos-Bieleńska, A, Ousager, L B, Wieacker, P, Criado, G Rodríguez, Bondeson, M-L, Annerén, G, Dufke, A, Cohen, M, Van Maldergem, L, Vincent-Delorme, C, Echenne, B, Simon-Bouy, B, Kleefstra, T, Willemsen, M, Fryns, J-P, Devriendt, K, Ullmann, R, Vingron, M, Wrogemann, K, Wienker, T F, Tzschach, A, van Bokhoven, H, Gecz, J, Jentsch, T J, Chen, W, Ropers, H-H, and Kalscheuer, V M

Published
2016
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9. Accompagnement d’un enseignant-chercheur physicien par un chercheur en didactique : vers une pratique de l’enseignement interactif: Développement professionnel à l’université

Author

Daussy, Christophe, Lebrun, N., Laboratoire de Physique des Lasers (LPL), Centre National de la Recherche Scientifique (CNRS)-Université Sorbonne Paris Nord, Université des Sciences et Technologies (Lille 1) (USTL), Laboratoire de Didactique André Revuz (LDAR (URP_4434)), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Lille-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Université de Paris (UP)-CY Cergy Paris Université (CY), Marie-Noëlle Hindryckx & Corentin Poffé, Amy-Klein, Anne, Normandie Université (NU)-Normandie Université (NU)-Université de Lille-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Université Paris Cité (UPCité)-CY Cergy Paris Université (CY), Université de Lille, and Université Paris 13 (UP13)-Centre National de la Recherche Scientifique (CNRS)-Université Sorbonne Paris Nord

Subjects
[PHYS]Physics [physics], SoTL, [SHS.EDU]Humanities and Social Sciences/Education, [SHS.EDU] Humanities and Social Sciences/Education, peer instruction, enseignement supérieur, enseignement de la physique, développement professionnel, [PHYS] Physics [physics], [SHS]Humanities and Social Sciences, enseignement par les pairs, higher education, ComputingMilieux_COMPUTERSANDEDUCATION, physics education, [SHS] Humanities and Social Sciences, professional development
Abstract

International audience; We present a techno-pedagogical and didactical support conducted by a researcher in didactic physics with a physics lecturer towards a practice of interactive teaching with an electronic voting system. After an introduction to our work, developed in the framework of the Scholarship of Teaching and Learning (SoTL) process, we pre-sent our choices of support. They are based on the assumption that an acculturation in physics education can be useful for professional development of lecturers. We define three indicators of the impact of our work: the recepti-vity of new resources, a reflective activity and finally an interaction and communication approach. Evidence of a professional development of the lecturer are then presented and discussed.

Published
2021

10. Accompagnement d’un enseignant-chercheur physicien par un chercheur en didactique : vers une pratique de l’enseignement interactif

Author

Daussy, Christophe, Lebrun, N., and Amy-Klein, Anne

Subjects
SoTL, enseignement par les pairs, higher education, peer instruction, [SHS.EDU] Humanities and Social Sciences/Education, ComputingMilieux_COMPUTERSANDEDUCATION, enseignement supérieur, physics education, enseignement de la physique, [SHS] Humanities and Social Sciences, développement professionnel, professional development, [PHYS] Physics [physics]
Abstract

We present a techno-pedagogical and didactical support conducted by a researcher in didactic physics with a physics lecturer towards a practice of interactive teaching with an electronic voting system. After an introduction to our work, developed in the framework of the Scholarship of Teaching and Learning (SoTL) process, we pre-sent our choices of support. They are based on the assumption that an acculturation in physics education can be useful for professional development of lecturers. We define three indicators of the impact of our work: the recepti-vity of new resources, a reflective activity and finally an interaction and communication approach. Evidence of a professional development of the lecturer are then presented and discussed.

Published
2021

11. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Author

Mak, C.C., Doherty, D., Lin, A.E., Vegas, N., Cho, M.T., Viot, G., Dimartino, C., Weisfeld-Adams, J.D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y.A., Ehmke, N., Horn, D., Troyer, C., Kant, S.G., Lee, Y., Ishak, G.E., Leung, G., Pritchard, A. Barone, Yang, S., Bend, E.G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M.G., Martin, P.M., Apple, B., Millan, F., Puk, O., Hoffer, M.J.V., Henderson, L.B., McGowan, R., Wentzensen, I.M., Pei, S., Zahir, F.R., Yu, M., Gibson, W.T., Seman, A., Steeves, M., Murrell, J.R., Luettgen, S., Francisco, E., Strom, T.M., Amlie-Wolf, L., Kaindl, A.M., Wilson, W.G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L.E.L.M., Radtke, K., Chelly, J., Zackai, E., Friedman, J.M., Bamshad, M.J., Nickerson, D.A., Reid, R.R., Devriendt, K., Chae, J.H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T.Y., Orenstein, N., Dobyns, W.B., Shieh, J.T., Choi, M., Waggoner, D., Gripp, K.W., Parker, M.J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T.L., Amiel, J., Chung, B.H., Gordon, C.T., Mak, C.C., Doherty, D., Lin, A.E., Vegas, N., Cho, M.T., Viot, G., Dimartino, C., Weisfeld-Adams, J.D., Lessel, D., Joss, S., Li, C., Gonzaga-Jauregui, C., Zarate, Y.A., Ehmke, N., Horn, D., Troyer, C., Kant, S.G., Lee, Y., Ishak, G.E., Leung, G., Pritchard, A. Barone, Yang, S., Bend, E.G., Filippini, F., Roadhouse, C., Lebrun, N., Mehaffey, M.G., Martin, P.M., Apple, B., Millan, F., Puk, O., Hoffer, M.J.V., Henderson, L.B., McGowan, R., Wentzensen, I.M., Pei, S., Zahir, F.R., Yu, M., Gibson, W.T., Seman, A., Steeves, M., Murrell, J.R., Luettgen, S., Francisco, E., Strom, T.M., Amlie-Wolf, L., Kaindl, A.M., Wilson, W.G., Halbach, S., Basel-Salmon, L., Lev-El, N., Denecke, J., Vissers, L.E.L.M., Radtke, K., Chelly, J., Zackai, E., Friedman, J.M., Bamshad, M.J., Nickerson, D.A., Reid, R.R., Devriendt, K., Chae, J.H., Stolerman, E., McDougall, C., Powis, Z., Bienvenu, T., Tan, T.Y., Orenstein, N., Dobyns, W.B., Shieh, J.T., Choi, M., Waggoner, D., Gripp, K.W., Parker, M.J., Stoler, J., Lyonnet, S., Cormier-Daire, V., Viskochil, D., Hoffman, T.L., Amiel, J., Chung, B.H., and Gordon, C.T.

Abstract

Contains fulltext : 218289.pdf (Publisher’s version ) (Closed access), MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3' region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis.

Published
2020

16. Gene expression of protein synthesis, immunity and brain pathways specifically altered in Anorexia Nervosa.

Author

Ramoz, N., Verebi, C., Lebrun, N., Duriez, P., Gorwood, P., and Bienvenu, T.

Subjects
GENE expression, MONONUCLEAR leukocytes, RNA sequencing, ANTISENSE RNA, HUMAN genome
Abstract

Introduction: Anorexia nervosa (AN) is a severe and chronic psychiatric disorder, resulting from a voluntary food restriction, vomiting, use of laxatives and excessive exercises, leading in dramatic weight loss and high mortality. AN is a multifactorial disease involving genetic and epigenetic factors supporting that AN is a metabo-psychiatric disorder. The molecular mechanisms involved in the etiology of AN remain unclear. One work reported gene expression by RNA sequencing in peripheral blood before and after weight restoration in 6 AN patients (Kim 2013), and one RNA sequencing in human iiPSC-derived neurons from 4 patients and 4 controls (Negraes 2017). To date, the profile of expression of genes and proteins in AN is undetermined. Objectives: In this study, our goal is to identify specific gene expression signatures from circulating blood nuclear cells to decipher the pathophysiology of AN and characterize biomarkers that can be used for diagnostic or prognostic of AN. Methods: All consented participants are recruited at Sainte-Anne Hospital, Paris, France, using DSM5 criteria. They had a blood draw in Paxgene tube for the collection of RNAs. Total RNA was extracted from peripheral blood mononuclear cells of 15 patients suffering of AN and 15 healthy controls. All messenger RNAs are sequenced on a Novaseq plateform. Reads are aligned to the human genome 19 and statistical analyses on the read counts for differentially expressed genes are computed with DESeq2. Results: The total RNA sequencing allows us to identify 673 dysregulates genes (p adjusted value <0.01, fold change >1,5). Among them, 248 are down-regulated and 425 are up-regulated genes in AN patients compared to controls. From them, 151 transcripts are annotated as pseudogene and 45 are referenced as antisense RNA. Of the 522 remaining transcripts, 424 correspond to a transcript or protein annotated by HGNC and ENSEMBL and 93 are known pseudogenes. A large number of proteins resulting from the expression of deregulated genes interact with each other and form a statistically enriched network impacting biological processes. They are mainly increased and acting in the cellular machinery allowing protein synthesis (biological process: transcription, ribosome, spliceosome and mitochondria). In contrast, down-regulated genes present an enrichment in genes involved in immunity pathways. Finally, several genes are also expressed in the brain. We observed a significant enrichment of genes expressed in the blood and brain tissues. Conclusions: We identify specific profiles of gene expression in AN. Several genes are both blood and brain tissue expression. Some genes are good candidates for biomarker of the diagnostic in AN that need to be investigated in a longitudinal study to evaluate their useful as prognostic biomarker of AN. This work is supported by Fondation de France & Fédération Recherche sur le Cerveau. Disclosure of Interest: None Declared [ABSTRACT FROM AUTHOR]

Published
2024
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18. Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Author

Broix, L, Jagline, H, L Ivanova, E, Schmucker, S, Drouot, N, Clayton-Smith, J, Pagnamenta, A, Metcalfe, K, Isidor, B, Louvier, U, Poduri, A, Taylor, J, Tilly, P, Poirier, K, Saillour, Y, Lebrun, N, Stemmelen, T, Rudolf, G, Muraca, G, Saintpierre, B, Elmorjani, A, study, Deciphering Developmental Disorders, Moïse, M, Weirauch, N, Guerrini, R, Boland, A, Olaso, R, Masson, C, Tripathy, R, Keays, D, Beldjord, C, Nguyen, L, Godin, J, Kini, U, Nischké, P, Deleuze, J, Bahi-Buisson, N, Sumara, I, Hinckelmann, M, Chelly, J, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Regional Genetic Service, St Mary's Hospital, Manchester, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], Central Manchester University Hospitals NHS Foundation Trust, Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP], Pediatric Neurology & Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer-University of Florence (UNIFI), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Institut Cochin (UMR_S567 / UMR 8104), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Service de neurologie pédiatrique [CHU Necker], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institute of Biochemistry (IBC), Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology in Zürich [Zürich] (ETH Zürich), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI)-Children's Hospital A. Meyer, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Eidgenössische Technische Hochschule - Swiss Federal Institute of Technology [Zürich] (ETH Zürich), University of Oxford, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), and Università degli Studi di Firenze = University of Florence (UniFI)-Children's Hospital A. Meyer

Subjects
0301 basic medicine, HECT domain, Male, Nedd4 Ubiquitin Protein Ligases, Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio], Mutation, Missense, mTORC1, Bioinformatics, medicine.disease_cause, Article, 03 medical and health sciences, Mice, 0302 clinical medicine, Ubiquitin, Periventricular Nodular Heterotopia, Protein Domains, hemic and lymphatic diseases, Genetics, medicine, Animals, Humans, Protein kinase B, PI3K/AKT/mTOR pathway, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, Mutation, biology, Endosomal Sorting Complexes Required for Transport, TOR Serine-Threonine Kinases, DAB1, Cell biology, Ubiquitin ligase, 030104 developmental biology, biology.protein, Female, Proto-Oncogene Proteins c-akt, 030217 neurology & neurosurgery, Signal Transduction
Abstract

Neurodevelopmental disorders with periventricular nodular heterotopia (PNH) are etiologically heterogeneous, and their genetic causes remain in many cases unknown. Here we show that missense mutations in the HECT domain of the E3 ubiquitin ligase NEDD4L lead to PNH associated with toes syndactyly, cleft palate and neurodevelopmental delay. Cellular and expression data showed a sensitivity of PNH-associated mutants to proteasome degradation. Moreover, in utero electroporation approach showed that PNH-related mutants and excess of wild type (WT) NEDD4L affect neurogenesis, neuronal positioning and terminal translocation. Further investigations, including rapamycin based experiments, revealed differential deregulation of pathways involved. Excess of WT NEDD4L leads to a disruption of Dab1 and mTORC1 pathways, while PNH-related mutations are associated with a deregulation of mTORC1 and AKT activities. Altogether, these data provide insights to better understand the critical role of NEDD4L in the regulation of mTOR pathways and their contributions in cortical development.

Published
2017

19. La recherche en didactique de la physique

Author

Jean-Marie Boilevin, Nicolas Décamp, Alice Delserieys, Cécile de Hosson, Alain Jameau, Lebrun, N., Valérie Munier, Centre de Recherche sur l'Education, les apprentissages et la didactique (CREAD EA 3875), Université de Brest (UBO)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS), Université de Brest (UBO), Laboratoire de Didactique André Revuz (LDAR (EA_4434)), Université d'Artois (UA)-Université Paris Diderot - Paris 7 (UPD7)-Université de Cergy Pontoise (UCP), Université Paris-Seine-Université Paris-Seine-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Apprentissage, Didactique, Evaluation, Formation (ADEF), Aix Marseille Université (AMU), Laboratoire de dynamique et structure des matériaux moléculaires (LDSMM), Université de Lille, Sciences et Technologies-Université du Littoral Côte d'Opale (ULCO)-Centre National de la Recherche Scientifique (CNRS), Laboratoire Interdisciplinaire de Recherche en Didactique, Éducation et Formation (LIRDEF), Université Paul-Valéry - Montpellier 3 (UPVM)-Université de Montpellier (UM), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Université de Cergy Pontoise (UCP), Université Paris-Seine-Université Paris-Seine-Université Paris Diderot - Paris 7 (UPD7)-Université d'Artois (UA), Boilevin, Jean-Marie, and Université de Brest (UBO)-Université de Rennes 2 (UR2)-Institut Brestois des Sciences de l'Homme et de la Société (IBSHS)

Subjects
[SHS.EDU]Humanities and Social Sciences/Education, [SHS.EDU] Humanities and Social Sciences/Education, ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2015

20. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K. L., Belet, S., van Roozendaal, K. E. P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Van Boemmel, A., Goeke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Mueller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L. B., Wieacker, P., Criado, G. Rodriguez, Bondeson, Marie-Louise, Annerén, Göran, Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T. F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T. J., Chen, W., Ropers, H-H, Kalscheuer, V. M., Hu, H., Haas, S. A., Chelly, J., Van Esch, H., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., Zemojtel, T., Love, M. I., Richard, H., Emde, A-K, Bienek, M., Jensen, C., Hambrock, M., Fischer, U., Langnick, C., Feldkamp, M., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M. A., Gardner, A., Willis-Owen, S., Tan, C., Friend, K. L., Belet, S., van Roozendaal, K. E. P., Jimenez-Pocquet, M., Moizard, M-P, Ronce, N., Sun, R., O'Keeffe, S., Chenna, R., Van Boemmel, A., Goeke, J., Hackett, A., Field, M., Christie, L., Boyle, J., Haan, E., Nelson, J., Turner, G., Baynam, G., Gillessen-Kaesbach, G., Mueller, U., Steinberger, D., Budny, B., Badura-Stronka, M., Latos-Bielenska, A., Ousager, L. B., Wieacker, P., Criado, G. Rodriguez, Bondeson, Marie-Louise, Annerén, Göran, Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J-P, Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T. F., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T. J., Chen, W., Ropers, H-H, and Kalscheuer, V. M.

Abstract

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

Published
2016
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21. Variants in CUL4B are associated with cerebral malformations

Author

Vulto-van Silfhout, A.T., Nakagawa, T., Bahi-Buisson, N., Haas, S.A., Hu, H, Bienek, M., Vissers, L.E.L.M., Gilissen, C.F.H.A., Tzschach, A., Busche, A., Musebeck, J., Rump, P., Mathijssen, I.B., Avela, K., Somer, M., Doagu, F., Philips, A.K., Rauch, A., Baumer, A., Voesenek, K.E.J., Poirier, K., Vigneron, J., Amram, D., Odent, S., Nawara, M., Obersztyn, E., Lenart, J., Charzewska, A., Lebrun, N., Fischer, U., Nillesen, W.M., Yntema, H.G., Jarvela, I., Ropers, H.H., Vries, B. de, Brunner, H.G., Bokhoven, H. van, Raymond, F.L., Willemsen, M.A.A.P., Chelly, J., Xiong, Y., Barkovich, A.J., Kalscheuer, V.M., Kleefstra, T., Brouwer, A.P.M. de, Vulto-van Silfhout, A.T., Nakagawa, T., Bahi-Buisson, N., Haas, S.A., Hu, H, Bienek, M., Vissers, L.E.L.M., Gilissen, C.F.H.A., Tzschach, A., Busche, A., Musebeck, J., Rump, P., Mathijssen, I.B., Avela, K., Somer, M., Doagu, F., Philips, A.K., Rauch, A., Baumer, A., Voesenek, K.E.J., Poirier, K., Vigneron, J., Amram, D., Odent, S., Nawara, M., Obersztyn, E., Lenart, J., Charzewska, A., Lebrun, N., Fischer, U., Nillesen, W.M., Yntema, H.G., Jarvela, I., Ropers, H.H., Vries, B. de, Brunner, H.G., Bokhoven, H. van, Raymond, F.L., Willemsen, M.A.A.P., Chelly, J., Xiong, Y., Barkovich, A.J., Kalscheuer, V.M., Kleefstra, T., and Brouwer, A.P.M. de

Abstract

Item does not contain fulltext, Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B.

Published
2015

22. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Author

Hu, H, primary, Haas, S A, additional, Chelly, J, additional, Van Esch, H, additional, Raynaud, M, additional, de Brouwer, A P M, additional, Weinert, S, additional, Froyen, G, additional, Frints, S G M, additional, Laumonnier, F, additional, Zemojtel, T, additional, Love, M I, additional, Richard, H, additional, Emde, A-K, additional, Bienek, M, additional, Jensen, C, additional, Hambrock, M, additional, Fischer, U, additional, Langnick, C, additional, Feldkamp, M, additional, Wissink-Lindhout, W, additional, Lebrun, N, additional, Castelnau, L, additional, Rucci, J, additional, Montjean, R, additional, Dorseuil, O, additional, Billuart, P, additional, Stuhlmann, T, additional, Shaw, M, additional, Corbett, M A, additional, Gardner, A, additional, Willis-Owen, S, additional, Tan, C, additional, Friend, K L, additional, Belet, S, additional, van Roozendaal, K E P, additional, Jimenez-Pocquet, M, additional, Moizard, M-P, additional, Ronce, N, additional, Sun, R, additional, O'Keeffe, S, additional, Chenna, R, additional, van Bömmel, A, additional, Göke, J, additional, Hackett, A, additional, Field, M, additional, Christie, L, additional, Boyle, J, additional, Haan, E, additional, Nelson, J, additional, Turner, G, additional, Baynam, G, additional, Gillessen-Kaesbach, G, additional, Müller, U, additional, Steinberger, D, additional, Budny, B, additional, Badura-Stronka, M, additional, Latos-Bieleńska, A, additional, Ousager, L B, additional, Wieacker, P, additional, Rodríguez Criado, G, additional, Bondeson, M-L, additional, Annerén, G, additional, Dufke, A, additional, Cohen, M, additional, Van Maldergem, L, additional, Vincent-Delorme, C, additional, Echenne, B, additional, Simon-Bouy, B, additional, Kleefstra, T, additional, Willemsen, M, additional, Fryns, J-P, additional, Devriendt, K, additional, Ullmann, R, additional, Vingron, M, additional, Wrogemann, K, additional, Wienker, T F, additional, Tzschach, A, additional, van Bokhoven, H, additional, Gecz, J, additional, Jentsch, T J, additional, Chen, W, additional, Ropers, H-H, additional, and Kalscheuer, V M, additional

Published
2015
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23. Boron-Iron-Neodymium

Author

Malfliet, A., Cacciamani, Gabriele, Lebrun, N., and Rogl, P.

Published
2008

43. Thermal behaviour of nitric acid dihydrate in 1:2 HNO3 /H2 O solutions.

Author

Lebrun, N., Mahe, F., Foulon, M., Gors, C., and Petit, J.C.

Subjects
*NITRIC acid, *CRYSTALLIZATION
Abstract

The liquid-solid phase transitions of 1:2 HNO[SUB3]/H[SUB2]O solutions were investigated in bulk samples. Two forms of nitric acid dihydrate (NAD) (denoted further NAD(I) and NAD(II) can precipitate. After cooling down to 200 K, NAD(I) crystallizes and melts congruently at 238 K. On cooling down to 173 K, NAD(I) first crystallizes and a polymorphic form NAD(II) appears on heating at about 210 K, which is governed by a nucleation process at temperatures below 200 K. NAD(II) then transforms into nitric acid trihydrate at 235 K via a peritectic reaction. The existence of the two forms is confirmed by Raman studies. Our infrared experiments on bulk samples are in good agreement with those reported in the literature leading to the conclusion that the NAD(I) studied here is also observed in polar-stratospheric-cloud (PSC) particles. In stratospheric conditions, NAD(II) probably cannot freeze in the PSC particles. [ABSTRACT FROM AUTHOR]

Published
2003
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46. A survey of the Th2R and Th3R allelic variants in the circumsporozoite protein gene of P. falciparum parasites from Western Thailand

Author

Kumkhaek, C., Phra-Ek, K., Singhasivanon, P., Looareesuwan, S., Hirunpetcharat, C., Brockman, A., Grüner, A. C., Lebrun, N., Rénia, L., Nosten, F., Georges Snounou, and Khusmith, S.

Subjects
parasitic diseases
Abstract

Allelic variation in the Plasmodium falciparum circumsporozoite protein (CS) gene has been determined by sequencing the immunodominant T-cell epitopes, Th2R and Th3R, from 95 isolates from two malaria-endemic areas in the west of Thailand. Comparison with a reference sequence revealed only non-synonymous point mutations in the two epitope regions. Point mutations were found outside these epitopes in a minority of samples, and all but four were also non-synonymous. A relatively high number of variants, 11 Th2R and 9 Th3R, were detected and comprised some that had not been previously observed. However, the Th2R*05 and the Th3R*01 allelic variants predominated, as they were found in more than 70% of the 101 sequences obtained.

50. Activités marchandes et pratiques de la frontière

Author

Raphaëlle Chevrillon-Guibert, Pôle de recherche pour l'organisation et la diffusion de l'information géographique (PRODIG), Université Paris 1 Panthéon-Sorbonne (UP1)-Institut de Recherche pour le Développement (IRD)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Paris-Sorbonne (UP4)-AgroParisTech-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), and Lebrun, N. (ed.)

Subjects
Darfour, Geography, Planning and Development, 0211 other engineering and technologies, 0507 social and economic geography, lcsh:G1-922, 02 engineering and technology, Soudan, frontière, [SHS]Humanities and Social Sciences, Sudan, political economy, Commerçant, Political science, border, Darfur, Communauté, ComputingMilieux_MISCELLANEOUS, 05 social sciences, 021107 urban & regional planning, [SHS.GEO]Humanities and Social Sciences/Geography, économie politique, [SHS.ANTHRO-SE]Humanities and Social Sciences/Social Anthropology and ethnology, commerce, Urban Studies, Frontière, trade, 050703 geography, Humanities, lcsh:Geography (General)
Abstract

Cet article analyse la trajectoire d’accumulation d’un groupe particulier issu des communautés darfouriennes Zaghawa originaire de la région frontalière de la Libye au Nord du Darfour (Soudan). Il montre comment cette frontière a joué un rôle déterminant dans le succès économique de ce groupe en constituant initialement une opportunité commerciale exceptionnelle dans une région en crise mais également en contribuant, avec la culture pastorale de ces communautés, à créer des pratiques et un éthos de vie où la mobilité et le passage de frontières dont centraux. Dès lors, ces hommes d’affaires déploient un rapport particulier au territoire et à la société qui les distinguent de la nouvelle bourgeoisie qui émerge à la même période au Soudan. This paper examines the pathways of accumulation of specific Sudanese traders who came from the border region of Northern Darfur. It argues that the Sudan-Libya border have been fundamental to success not only because it has provided a real business opportunity in the 60s,70s and 80s but also because it has led to special ways of being and practices. The paper shows that experience of cross-border trading combined with a strong pastoral culture has forged a specific model of entrepreneur for which mobility and border crossings are central assets. The characteristics and their prospects of integration within the city and its society differed significantly from the ones of the Islamist Bourgeoisie which has emerged during the same contemporary period.

Published
2016

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