المؤلفون: Loïc Drévillon, Gaëlle Tanguy, Alexandre Hinzpeter, Nicole Arous, Alix de Becdelièvre, Abdel Aissat, Agathe Tarze, Michel Goossens, Pascale Fanen

المصدر: PLoS ONE, Vol 6, Iss 3, p e18334 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3069076?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/5061d0c3eb354a89b407b3b4a012778f

المؤلفون: Alexandre Hinzpeter, Abdel Aissat, Elvira Sondo, Catherine Costa, Nicole Arous, Christine Gameiro, Natacha Martin, Agathe Tarze, Laurence Weiss, Alix de Becdelièvre, Bruno Costes, Michel Goossens, Luis J Galietta, Emmanuelle Girodon, Pascale Fanen

المصدر: PLoS Genetics, Vol 6, Iss 10 (2010)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2951375?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/c7ee5c74b4ae4089a975668a60796086

المؤلفون: Michel Goossens, Alexandre Hinzpeter, Gaëlle Tanguy, Loïc Drévillon, Janine Fritsch, Nicole Arous, Afia Hasnain, Pascale Fanen

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1783:1189-1199

مصطلحات موضوعية: Protein Folding, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Blotting, Western, Cystic Fibrosis Transmembrane Conductance Regulator, Saccharomyces cerevisiae, Plasma protein binding, Biology, Endoplasmic-reticulum-associated protein degradation, Kidney, CSN5, COP9 signalosome, Two-Hybrid System Techniques, Stilbenes, Humans, Immunoprecipitation, CFTR, Molecular Biology, Genetics, COP9 Signalosome Complex, Intracellular Signaling Peptides and Proteins, Kidney metabolism, Cell Biology, Protein-Tyrosine Kinases, respiratory system, Cystic fibrosis transmembrane conductance regulator, Cell biology, Proteasome, biology.protein, Interaction and degradation, HeLa Cells, Peptide Hydrolases, Protein Binding, Subcellular Fractions, Genetic screen

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1387367c3481a144128b0959b673f91d
https://doi.org/10.1016/j.bbamcr.2008.01.010

المؤلفون: Jacqueline Lehmann-Che, Jacques Teulon, Aleksander Edelman, Ingrid Duguépéroux, Nicole Arous, Marc De Braekeleer, Marie Legendre, Pascale Fanen, Jérôme Clain, Michel Goossens, Emmanuelle Girodon

المصدر: Human Mutation. 25:360-371

مصطلحات موضوعية: Genetics, Mutation, biology, Mutant, medicine.disease_cause, medicine.disease, Cystic fibrosis, Phenotype, Cystic fibrosis transmembrane conductance regulator, Cell biology, Genotype, Chloride channel, medicine, biology.protein, Protein biosynthesis, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b7624f66bfbcfd0844530f1efb30b0ee
https://doi.org/10.1002/humu.20156

المؤلفون: Juliette Smith-Ravin, M.C. Garel, Paul-Henri Romeo, Frédéric Galactéros, Dora Bachir, Christelle M. Rodrigue, Nicole Arous

المصدر: British Journal of Haematology. 113:500-507

مصطلحات موضوعية: medicine.medical_specialty, Cell growth, Cellular differentiation, Cell, Hematology, Pharmacology, Biology, Resveratrol, medicine.disease, Sickle cell anemia, chemistry.chemical_compound, medicine.anatomical_structure, Endocrinology, chemistry, Cell culture, hemic and lymphatic diseases, Internal medicine, Fetal hemoglobin, medicine, Erythropoiesis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::279fc5c61b317eff141f7f75baa57e84
https://doi.org/10.1046/j.1365-2141.2001.02746.x

المؤلفون: Bruno Costes, Henri Wajcman, Claude Préhu, Christian Godart, Jean Riou, Josiane Bardakdjian-Michau, Malika Dahmane, Danielle Promé, Nicole Arous, Kadour Cherif Ayache, Frédéric Galactéros

المصدر: British Journal of Haematology. 100:401-406

مصطلحات موضوعية: chemistry.chemical_classification, Genetics, chemistry, Point mutation, Nucleotide, Hematology, Globin, Biology, Haemolysis, Gene, DNA sequencing, Histidine, Sequence (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6cff4151c97b0da48b42682db2205f20
https://doi.org/10.1046/j.1365-2141.1998.00566.x

المؤلفون: Constantin T. Craescu, M.C. Garel, Marie-Claude Calvin, Jean Rosa, Raymonde Rosa, Nicole Arous

المصدر: Proceedings of the National Academy of Sciences. 91:3593-3597

مصطلحات موضوعية: Molecular Sequence Data, Phosphatase, Glycine, Isomerase, Catalysis, Substrate Specificity, Phosphoglycerate mutase, Structure-Activity Relationship, Mutase, Bisphosphoglycerate Mutase, Humans, Histidine, Amino Acid Sequence, Site-directed mutagenesis, Bisphosphoglycerate mutase, DNA Primers, 2,3-Diphosphoglycerate, chemistry.chemical_classification, Binding Sites, Multidisciplinary, Base Sequence, biology, Acid phosphatase, Diphosphoglyceric Acids, Molecular biology, Amino acid, Biochemistry, chemistry, Mutagenesis, Site-Directed, biology.protein, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8354fae24a88a61138c2c05dfca2490
https://doi.org/10.1073/pnas.91.9.3593

المؤلفون: Alix de Becdelièvre, Catherine Costa, Agathe Tarze, Laurence Weiss, Luis J. V. Galietta, Elvira Sondo, Michel Goossens, Pascale Fanen, Natacha Martin, Christine Gameiro, Nicole Arous, Emmanuelle Girodon, Alexandre Hinzpeter, Abdel Aissat, Bruno Costes

المساهمون: Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Service de Biochimie [Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de Pédiatrie I, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Hinzpeter, Alexandre, Aissat, Abdel, Sondo, Elvira, Costa, Catherine, Arous, Nicole, Gameiro, Christine, Martin, Natacha, Tarze, Agathe, Weiss, Laurence, de Becdelièvre, Alix, Costes, Bruno, Goossens, Michel, Galietta, Luis J., Girodon, Emmanuelle, Fanen, Pascale, Guellaen, Georges, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12)-IFR10

المصدر: PLoS Genetics
PLoS Genetics, Public Library of Science, 2010, 6 (10), pp.e1001153. ⟨10.1371/journal.pgen.1001153⟩
PLoS Genetics, Vol 6, Iss 10 (2010)

مصطلحات موضوعية: Male, Cancer Research, Cystic Fibrosis, DNA Mutational Analysis, Cystic Fibrosis Transmembrane Conductance Regulator, HeLa Cell, 0302 clinical medicine, HEK293 Cell, INDEL Mutation, Genetics and Genomics/Genetics of Disease, Genetics (clinical), Genetics, Genetics and Genomics/Medical Genetics, 0303 health sciences, Luminescent Protein, Genetics and Genomics/Bioinformatics, Stop codon, Pedigree, Genetics and Genomics/Gene Function, Phenotype, RNA Splice Site, 030220 oncology & carcinogenesis, RNA splicing, Female, Research Article, Human, lcsh:QH426-470, Genotype, Nonsense mutation, Mutation, Missense, Biology, Transfection, DNA Mutational Analysi, 03 medical and health sciences, Genetic, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Allele, Indel, Cystic Fibrosi, Molecular Biology, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Base Sequence, Alternative splicing, Intron, Ecology, Evolution, Behavior and Systematic, lcsh:Genetics, Luminescent Proteins, Alternative Splicing, HEK293 Cells, RNA Splice Sites, HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::737fbc78e97c33bee0a3aa2838bf9298
https://www.hal.inserm.fr/inserm-00542805/file/journal.pgen.1001153.pdf

المؤلفون: Pascale Fanen, Gaëlle Tanguy, A. de Becdelièvre, Nicole Arous, B. Saubamea, Loïc Drévillon, Alexandre Hinzpeter

المصدر: Journal of Cystic Fibrosis. 8

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Ubiquitin, biology, business.industry, Pediatrics, Perinatology and Child Health, medicine, biology.protein, Pediatrics, Perinatology, and Child Health, medicine.disease, business, Cystic fibrosis, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9862c60834585e546f350bb9b34565ad

المؤلفون: Antonella Caputo, Marco Di Duca, Nicoletta Pedemonte, Nicole Arous, Alexandre Hinzpeter, Pascale Fanen, Emanuela Caci, Olga Zegarra-Moran, Luis J. V. Galietta

المساهمون: Caputo, Antonella, Hinzpeter, Alexandre, Caci, Emanuela, Pedemonte, Nicoletta, Arous, Nicole, Di Duca, Marco, Zegarra-Moran, Olga, Fanen, Pascale, Galietta, Luis J. V.

مصطلحات موضوعية: Cellular and Molecular, congenital, hereditary, and neonatal diseases and abnormalities, Blotting, Western, Glycine, Cystic Fibrosis Transmembrane Conductance Regulator, Cercopithecus aethiop, Electrophoretic Mobility Shift Assay, Gating, Transfection, Mutagenesi, Mutant protein, COS Cell, Chlorocebus aethiops, Animals, ΔF508, Pharmacology, Binding Sites, biology, Dose-Response Relationship, Drug, Felodipine, Chemistry, Animal, Binding Site, Potentiator, Calcium Channel Blockers, Transmembrane protein, Cystic fibrosis transmembrane conductance regulator, Cell biology, Algorithm, Transmembrane domain, Biochemistry, Mutagenesis, COS Cells, Mutation, Chloride channel, biology.protein, Molecular Medicine, Calcium Channel Blocker, Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2182a6b8e5968820184f21df9eba8a9b
http://hdl.handle.net/11588/738906