المؤلفون: Matthew J. Birket, Sophie Raibaud, Miriam Lettieri, Antony D. Adamson, Valerie Letang, Pauline Cervello, Nicolas Redon, Gwenaelle Ret, Sandra Viale, Bing Wang, Bruno Biton, Jean-Claude Guillemot, Vincent Mikol, John P. Leonard, Neil A. Hanley, Cecile Orsini, Jean-Michel Itier

المصدر: Stem Cell Reports, Vol 13, Iss 2, Pp 380-393 (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671119302565; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/c2c19783b4b74745a6875cfbc1a18bb7

المؤلفون: Gwenaelle Ret, Pauline Cervello, Nicolas Redon, Matthew J. Birket, Miriam Lettieri, Valérie Letang, Bing Wang, Jean-Claude Guillemot, Bruno Biton, John P. Leonard, Sandra Viale, Vincent Mikol, Antony Adamson, Cécile Orsini, Jean-Michel Itier, Sophie Raibaud, Neil A. Hanley

المصدر: Stem Cell Reports, Vol 13, Iss 2, Pp 380-393 (2019)
Birket, M J, Raibaud, S, Lettieri, M, Adamson, A D, Letang, V, Cervello, P, Redon, N, Ret, G, Viale, S, Wang, B, Biton, B, Guillemot, J C, Mikol, V, Leonard, J P, Hanley, N A, Orsini, C & Itier, J M 2019, ' A Human Stem Cell Model of Fabry Disease Implicates LIMP-2 Accumulation in Cardiomyocyte Pathology ', Stem Cell Reports, vol. 13, no. 2, pp. 380-393 . https://doi.org/10.1016/j.stemcr.2019.07.004
Stem Cell Reports

مصطلحات موضوعية: Proteomics, 0301 basic medicine, Cathepsin F, Action Potentials, cardiomyocyte, Biochemistry, 0302 clinical medicine, Myocytes, Cardiac, Protein Interaction Maps, Induced pluripotent stem cell, lcsh:QH301-705.5, Gene Editing, Receptors, Scavenger, lcsh:R5-920, iPSC, 3. Good health, Cell biology, medicine.anatomical_structure, Proteome, lysosome, Stem cell, lcsh:Medicine (General), Induced Pluripotent Stem Cells, heart, Biology, Models, Biological, Article, 03 medical and health sciences, proteomics, Lysosome, Genetics, medicine, Humans, Point Mutation, HSP70 Heat-Shock Proteins, Secretion, Fabry disease, maturation, Lysosome-Associated Membrane Glycoproteins, biomarkers, Cell Biology, medicine.disease, secretome, 030104 developmental biology, lcsh:Biology (General), alpha-Galactosidase, Vacuoles, LIMP-2, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa141f71d1c6b98c801334a8f3f70dd4
http://www.sciencedirect.com/science/article/pii/S2213671119302565

المؤلفون: Gwenaelle Ret, Anne Caron, Cécile Orsini, Jean-François Deleuze, Dinesh S. Bangari, John P. Leonard, Lindsay Sweet, Sandra Viale, Jean-Michel Itier, Bernard Bénichou, Françoise Le-Gall

المصدر: Journal of Inherited Metabolic Disease. 37:1013-1022

مصطلحات موضوعية: Male, Cardiac function curve, Pathology, medicine.medical_specialty, Adolescent, Induced Pluripotent Stem Cells, Globotriaosylceramide, Biology, Left ventricular hypertrophy, chemistry.chemical_compound, Genetics, medicine, Humans, Myocyte, Enzyme Replacement Therapy, Myocytes, Cardiac, Substrate reduction therapy, Child, Induced pluripotent stem cell, Cells, Cultured, Genetics (clinical), Trihexosylceramides, Enzyme replacement therapy, medicine.disease, Fabry disease, Phenotype, chemistry, alpha-Galactosidase, Disease Progression, Fabry Disease, Lysosomes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7364adab168582e241652e54516f42a5
https://doi.org/10.1007/s10545-014-9724-5

المؤلفون: Valeria Nikolaenko, Martha Stapels, Cécile Orsini, Wendy E. Heywood, Justyna Spiewak, Matthew J. Birket, Kevin Mills, Jean-Michel Itier, Monica Lane, John P. Leonard, Kathy Klinger, Kate Zhang, Mahmud Hossain, Petra Oliva, Ivan Doykov

المصدر: Molecular Genetics and Metabolism. 123:S110

مصطلحات موضوعية: Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, medicine, Computational biology, Biomarker discovery, medicine.disease, business, Molecular Biology, Biochemistry, Fabry disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3e5c00a6548cccbe65fca025d239ea86
https://doi.org/10.1016/j.ymgme.2017.12.292

المؤلفون: Hervé Drobecq, Nicolas Sergeant, Jesus Benavides, Oliver Wirths, Véronique Blanchard, Thierry Canton, Valérie Vingtdeux, Gunter Tremp, Nicolien M. van der Kolk, Laurent Pradier, Evita van de Steeg, Christoph Schmitz, Bruno Bonici, Gwenaelle Ret, André Delacourte, Caty Casas, Jean-Michel Itier, Patrick Benoit, Thomas A. Bayer, Allan Clark

المصدر: The American Journal of Pathology. 165:1289-1300

مصطلحات موضوعية: Male, Genetically modified mouse, Pathology, medicine.medical_specialty, Blotting, Western, Gene Dosage, Mice, Transgenic, Biology, Hippocampus, Presenilin, Pathology and Forensic Medicine, Transgenic Model, Mice, Alzheimer Disease, mental disorders, Presenilin-1, medicine, Animals, Humans, Electrophoresis, Gel, Two-Dimensional, Gliosis, Senile plaques, Immunoassay, Amyloid beta-Peptides, Pyramidal Cells, Neurodegeneration, Age Factors, Membrane Proteins, medicine.disease, Immunohistochemistry, Peptide Fragments, Astrogliosis, Cell biology, Disease Models, Animal, medicine.anatomical_structure, Mutation, Nerve Degeneration, Female, Pyramidal cell, Alzheimer's disease, Regular Articles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0cf1eba593ccf1799db63612eb89ec
https://doi.org/10.1016/s0002-9440(10)63388-3

المؤلفون: Nacer Abbas, Patrice Denefle, Jeremy Pratt, Maria Angeles Mena, Gunter Tremp, Thomas Rooney, Eva Gallego, Marina P. Sánchez, Gwénnäelle Ret, Francisco Araujo, Chantal Joubert, Justo García de Yébenes, Pablo Ibanez, Alexis Brice, Rosa M. Solano, Olga Corti, Charles Cohen-Salmon, Jean Michel Itier, Laurent Pradier, Michel Laville, Magali Periquet, Santiago Canals, Alba Serrano, María José Casarejos, Julia Negroni, Georg Andrees Bohme, Jesus Benavides

المصدر: Human Molecular Genetics. 12:2277-2291

مصطلحات موضوعية: Male, medicine.medical_specialty, Dopamine, Ubiquitin-Protein Ligases, Mice, Transgenic, Striatum, Biology, Neuroprotection, Parkin, Body Temperature, Mice, Catecholamines, Dopamine receptor D3, Internal medicine, Genetics, medicine, Animals, Neurotransmitter Uptake Inhibitors, Gene Silencing, Enzyme Inhibitors, Monoamine Oxidase, Molecular Biology, Alleles, Cells, Cultured, Genetics (clinical), Sequence Deletion, Dopamine transporter, Neurons, Base Sequence, Behavior, Animal, Body Weight, Homozygote, Dopaminergic, Glutamate receptor, Exons, General Medicine, Introns, nervous system diseases, alpha-Methyltyrosine, Endocrinology, biology.protein, Female, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08af4b7c2aabd7f608f69e18482c3683
https://doi.org/10.1093/hmg/ddg239

المؤلفون: Pierrette Desbois, Jean-Michel Itier, Philippe Douhet, Jacques Jami, Rajiv L. Joshi, Françoise Dandoy-Dron, Danielle Bucchini

المساهمون: Centre interdisciplinaire de recherche en biologie (CIRB), Labex MemoLife, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Collège de France (CdF (institution))-Ecole Superieure de Physique et de Chimie Industrielles de la Ville de Paris (ESPCI Paris), Université Paris sciences et lettres (PSL)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Oncologie virale (OV), Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Collège de France (CdF)-PSL Research University (PSL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)

المصدر: Differentiation
Differentiation, Elsevier, 1996, 60 (5), pp.309-316. ⟨10.1046/j.1432-0436.1996.6050309.x⟩

مصطلحات موضوعية: Therapeutic gene modulation, Cancer Research, [SDV]Life Sciences [q-bio], Transgene, DNA Mutational Analysis, Mice, Transgenic, Regulatory Sequences, Nucleic Acid, Biology, Transfection, Thymidine Kinase, Mice, 03 medical and health sciences, Genes, Reporter, Gene expression, Tumor Cells, Cultured, Animals, Humans, Insulin, Tissue Distribution, Northern blot, Promoter Regions, Genetic, Pancreas, Molecular Biology, Gene, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Regulation of gene expression, 0303 health sciences, C-Peptide, 030302 biochemistry & molecular biology, Cell Biology, Molecular biology, Enhancer Elements, Genetic, Gene Expression Regulation, Regulatory sequence, Mutation, Insulinoma, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae1dfe43e323f736c92a58c0fb486e6
https://doi.org/10.1046/j.1432-0436.1996.6050309.x

المؤلفون: Marie-Christine Multon, François Dautry, Jean-Michel Itier, V Cormier, Gunter Tremp, Gwénaëlle Ret, Marie-Thérèse Bluet-Pajot, Fabien Schweighoffer, Bruno Tocque, Jean-François Léonard

المصدر: Nature. 393(6681)

مصطلحات موضوعية: Genetics, Male, Multidisciplinary, Regulator, Hypothalamus, Gene targeting, A protein, Growth, Biology, Growth hormone, DNA-Binding Proteins, Genomic Imprinting, Mice, Growth Hormone, Pituitary Gland, Gene Targeting, Animals, Female, Postnatal growth, Insulin-Like Growth Factor I, Genomic imprinting, Gene, Function (biology)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465817845b626a92352feb1bf3a38aff
https://pubmed.ncbi.nlm.nih.gov/9603515

المؤلفون: Jean-Michel Itier, Françoise Dandoy-Dron, Jacques Jami, Eliane Monthioux, Danielle Bucchini

المصدر: Differentiation; research in biological diversity. 58(4)

مصطلحات موضوعية: Cancer Research, Transgene, Molecular Sequence Data, Mice, Transgenic, Biology, In Vitro Techniques, Mice, In vivo, Gene expression, Tumor Cells, Cultured, Animals, Insulin, Enhancer, Promoter Regions, Genetic, Molecular Biology, Gene, Reporter gene, Base Sequence, Cell Biology, Molecular biology, Rats, Gene Expression Regulation, Neoplastic, Pancreatic Neoplasms, Enhancer Elements, Genetic, Cell culture, Regulatory sequence, Organ Specificity, Female, Insulinoma, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0924ed327be3d1d4133df4e7983b33d9
https://pubmed.ncbi.nlm.nih.gov/7641979

المؤلفون: Jean-Michel Itier, Günter L. Tremp, Jean-François Léonard, Marie-Christine Multon, Gwénaëlle Ret, Fabien Schweighoffer, Bruno Tocqué, Marie-Thérèse Bluet-Pajot, Valérie Cormier, François Daut

المصدر: Nature, Nature. 393(6681):125-126

الإتاحة: https://ideas.repec.org/a/nat/nature/v393y1998i6681d10.1038_30120.html