المؤلفون: Céline Tomkiewicz, Stéphane Hans, Marie Hélène Mucchielli, Nicolas Agier, Hervé Delacroix, Laetitia Marisa, Daniel Brasnu, Lawrence P Aggerbeck, Cécile Badoual, Robert Barouki, Martine Aggerbeck

المصدر: PLoS ONE, Vol 7, Iss 10, p e47170 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3467249?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/5508f337638946219925281b12662696

المؤلفون: Tal Pupko, Aude-Marie Lepagnol-Bestel, Adi Doron-Faigenboim, Lawrence P. Aggerbeck, Michel Simonneau, Hervé Delacroix, Yann Loe-Mie, J. M. Moalic, Sandrine Imbeaud, Philip Gorwood, Gilles Maussion

المساهمون: Analyse Phenotypique, Developpementale et Genetique des Comportements Addictifs, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Psychiatrie et Neurosciences (U894), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Information génomique et structurale (IGS), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Tel Aviv University (TAU), Centre de génétique moléculaire, Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), This work was partly supported by INSERM, the CNRS, the ANR06-neuro FRAXAmRNP, the Université Paris Sud, Association Française du Syndrome de RETT, Foundation Orange and the Jérôme Lejeune Foundation (to M.S.). A.-M.L.-B. and G.M. were supported by ANR and Orange Foundation, respectively. T.P. was supported by the Israel Science Foundation (878/09).ACKNOWLEDGEMENTS, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Tel Aviv University [Tel Aviv]

المصدر: Human Molecular Genetics
Human Molecular Genetics, 2010, 19 (14), pp.2841-2857. ⟨10.1093/hmg/ddq184⟩
Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (14), pp.2841-2857. ⟨10.1093/hmg/ddq184⟩

مصطلحات موضوعية: Primates, genetic processes, Mice, Transgenic, macromolecular substances, RE1-silencing transcription factor, Biology, Models, Biological, Genome, MECP2, Evolution, Molecular, Mice, 03 medical and health sciences, 0302 clinical medicine, Species Specificity, Genetics, Animals, Humans, Gene Regulatory Networks, Epigenetics, Molecular Biology, Gene, Cells, Cultured, Phylogeny, Genetics (clinical), Oligonucleotide Array Sequence Analysis, 030304 developmental biology, Regulation of gene expression, 0303 health sciences, General Medicine, TCF4, Chromatin Assembly and Disassembly, Repressor Proteins, RCOR1, enzymes and coenzymes (carbohydrates), Gene Expression Regulation, Schizophrenia, biology.protein, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], biological phenomena, cell phenomena, and immunity, 030217 neurology & neurosurgery, Genome-Wide Association Study, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee1ad50646623b69a09c2789cc77eb45
https://doi.org/10.1093/hmg/ddq184

المؤلفون: Lawrence P. Aggerbeck, T Aparicio, Marie Elisabeth Samson-Bouma, N Berriot-Varoqueaux, J Schmitz

المصدر: EMC - Gastro-entérologie. 4:1-8

مصطلحات موضوعية: Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4170a49ad2a13fee81f280712109e68e
https://doi.org/10.1016/s1155-1968(09)47131-1

المؤلفون: Lawrence P. Aggerbeck, Vanessa Clément-Collin, Alexander D. Dergunov, Gérard Siest, Anne Barbier, Athanase Visvikis

المصدر: Biophysical Chemistry. 119:158-169

مصطلحات موضوعية: 0303 health sciences, Chymotrypsin, biology, medicine.diagnostic_test, Chemistry, Proteolysis, Organic Chemistry, Biophysics, Subtilisin, Trypsin, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Protein structure, Sedimentation equilibrium, medicine, biology.protein, Protein quaternary structure, Heterologous expression, 030217 neurology & neurosurgery, 030304 developmental biology, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b85fa671972af17251e02819aa603cc3
https://doi.org/10.1016/j.bpc.2005.07.010

المؤلفون: Bernadette Kienzle, Lawrence P. Aggerbeck, Laura Blinderman, Marie-Elisabeth Samson-Bouma, David A. Gordon, Jamil Haris, John R. Wetterau, Edward F. Rehberg

المصدر: Journal of Biological Chemistry. 271:29945-29952

مصطلحات موضوعية: Protein subunit, Mutant, Wild type, Abetalipoproteinemia, Cell Biology, Isomerase, Biology, medicine.disease, Biochemistry, Gamma-aminobutyric acid receptor subunit alpha-1, Molecular biology, Microsomal triglyceride transfer protein, biology.protein, medicine, Protein disulfide-isomerase, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f40bc86cd213a12b29d4d03754c2aa6c
https://doi.org/10.1074/jbc.271.47.29945

المؤلفون: Nicole Verthier, Jack A.M. Fransen, Lawrence P. Aggerbeck, Gérard Feldmann, Marie-Elisabeth Samson-Bouma, L.A. Ginsel

المصدر: Biology of the Cell. 87:189-196

مصطلحات موضوعية: Antigenicity, Apolipoprotein B, biology, Abetalipoproteinemia, Cell Biology, General Medicine, Immunogold labelling, medicine.disease, Biochemistry, Freeze substitution, biology.protein, medicine, Ultrastructure, lipids (amino acids, peptides, and proteins), Intracellular, Lipoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4e7d3dd0556f2f6cc7d70ec865fd5cb8
https://doi.org/10.1111/j.1768-322x.1996.tb00980.x

المؤلفون: Lawrence P. Aggerbeck, Marie-Elisabeth Samson-Bouma, M. Di Filippo, Noël Peretti, Agnès Sassolas

المصدر: Mutations in Human Genetic Disease

مصطلحات موضوعية: medicine.medical_specialty, Malabsorption, biology, business.industry, Disease, SAR1B, medicine.disease, Gastroenterology, Steatorrhea, Hypocholesterolemia, Intestinal mucosa, Internal medicine, Failure to thrive, medicine, biology.protein, medicine.symptom, business, Chylomicron retention disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceda5fcd2bb941a9f3258285486a41c4
http://www.intechopen.com/articles/show/title/anderson-s-disease-chylomicron-retention-disease-and-mutations-in-the-sar1b-gene

المؤلفون: Véronique Bonnet, Hervé Crehalet, Gérald Luc, Lawrence P. Aggerbeck, Mathilde Di Filippo, Marie Elisabeth Samson-Bouma, Frédéric Gottrand, Jean-Pierre Rabès, Agnès Sassolas, Dominique Bozon

المساهمون: Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon (HCL)-Centre de Biologie et de pathologie Est, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Hémostase, bio-ingénierie et remodelage cardiovasculaires (LBPC), Université Paris Diderot - Paris 7 (UPD7)-Université Paris 13 (UP13)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Galilée, Pharmacologie, toxicologie et signalisation cellulaire (U747), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Inflammation: mécanismes et régulation et interactions avec la nutrition et les candidoses, Université de Lille, Droit et Santé-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Médecine Interne, PRES Université Lille Nord de France-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hospices Civils de Lyon ( HCL ) -Centre de Biologie et de pathologie Est, Cardiovasculaire, métabolisme, diabétologie et nutrition ( CarMeN ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hospices Civils de Lyon ( HCL ) -Institut National des Sciences Appliquées de Lyon ( INSA Lyon ), Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Université de Lyon-Institut National des Sciences Appliquées ( INSA ) -Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Institut National de la Recherche Agronomique ( INRA ), Hémostase, bio-ingénierie et remodelage cardiovasculaires ( LBPC ), Université Paris Diderot - Paris 7 ( UPD7 ) -Université Paris 13 ( UP13 ) -Université Sorbonne Paris Cité ( USPC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut Galilée, Physiologie Cellulaire des Regulations Hormonales, Nutritionnelles et Pharmacologiques, Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Biochimie et de Génétique Moléculaire, Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Ambroise Paré-GHU Paris Ile-de-France Ouest, Université de Lille, Droit et Santé-Institut National de la Santé et de la Recherche Médicale ( INSERM ), PRES Université Lille Nord de France-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut Galilée-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Ambroise Paré-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)

المصدر: Journal of Lipid Research
Journal of Lipid Research, American Society for Biochemistry and Molecular Biology, 2012, 53 (3), pp.548-55. ⟨10.1194/jlr.M020024⟩
Journal of Lipid Research, American Society for Biochemistry and Molecular Biology, 2012, 53 (3), pp.548-55. 〈10.1194/jlr.M020024〉
Journal of Lipid Research 3 (53), 548-555. (2012)
Journal of Lipid Research, Vol 53, Iss 3, Pp 548-555 (2012)

مصطلحات موضوعية: dyslipidemias, familial hypocholesterolemia, chylomicrons, lipoprotein/assembly, hepatosteatosis, genetics, gene expression, genotype-phenotype correlation, splicing, TRIGLYCERIDE-TRANSFER-PROTEIN, DISULFIDE-ISOMERASE, MTP GENE, SPLICING SIGNALS, APOLIPOPROTEIN-B, IDENTIFICATION, SUBUNIT, SITE, HYPOBETALIPOPROTEINEMIA, PHENOTYPE, MESH : Abetalipoproteinemia, [ SDV.AEN ] Life Sciences [q-bio]/Food and Nutrition, DNA Mutational Analysis, 030204 cardiovascular system & hematology, Gene mutation, MESH : Child, Preschool, Compound heterozygosity, medicine.disease_cause, Biochemistry, Microsomal triglyceride transfer protein, 0302 clinical medicine, Endocrinology, Missense mutation, MESH : Female, MESH: DNA Mutational Analysis, Genetics, 0303 health sciences, Mutation, MESH: Genetic Predisposition to Disease, Abetalipoproteinemia, 3. Good health, Child, Preschool, RNA splicing, Female, MESH : Carrier Proteins, MESH : Mutation, MESH: Mutation, MESH: Carrier Proteins, QD415-436, MESH : DNA Mutational Analysis, Biology, functional analysis, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, 030304 developmental biology, MESH: Humans, MESH : Humans, MESH: Child, Preschool, MESH: Abetalipoproteinemia, Cell Biology, medicine.disease, Molecular biology, biology.protein, MESH : Genetic Predisposition to Disease, Carrier Proteins, Patient-Oriented and Epidemiological Research, MESH: Female, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, Minigene

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2be38034cadd4b12377d38f6401a213
https://www.hal.inserm.fr/inserm-00813163/document

المؤلفون: Lawrence P. Aggerbeck, Martine Aggerbeck, Xavier Coumoul, Robert Barouki

المساهمون: Université de Paris (UP)

المصدر: Drug Metabolism and Drug Interactions
Drug Metabolism and Drug Interactions, 2012, 27 (1), ⟨10.1515/dmdi-2011-0035⟩

مصطلحات موضوعية: Systems biology, [SDV]Life Sciences [q-bio], Cell, Interactome, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Cell Movement, Detoxification, Neoplasms, medicine, Cell Adhesion, Animals, Humans, Pharmacology (medical), Receptor, 030304 developmental biology, 0303 health sciences, biology, Cell migration, Aryl hydrocarbon receptor, dissemin, Adaptation, Physiological, Cell biology, medicine.anatomical_structure, chemistry, Receptors, Aryl Hydrocarbon, 030220 oncology & carcinogenesis, biology.protein, Xenobiotic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b871d9e3f4bacca3da2565559682cb0f
https://pubmed.ncbi.nlm.nih.gov/22718620

المؤلفون: Mireille Bétermier, Thomas Tang, Jacek K. Nowak, Hervé Delacroix, Olivier Arnaiz, Marek Zagulski, Jean Cohen, Nicolas Agier, Robert Gromadka, C. J. Herbert, Linda Sperling, Marek Juszczuk, Marie-Hélène Mucchielli, Maria Jerka-Dziadosz, Lawrence P. Aggerbeck, Kamila Maliszewska, Jean-François Gout

مصطلحات موضوعية: Regulation of gene expression, Genetics, Macronucleus, Protozoan Proteins, Gene Expression Regulation, Developmental, General Medicine, Articles, Self-Fertilization, Biology, Microbiology, Genome, Karyogamy, Transcriptome, Gene expression, Paramecium tetraurelia, Molecular Biology, Gene, Micronucleus, Germline

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68e69de1bc2282cf535b386b54fe83aa
https://europepmc.org/articles/PMC3067474/