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المؤلفون: Valérie Serre, Ruthie Shenhav, Zahra Assouline, Louise Galmiche, Arnold Munnich, Vanessa Vedrenne, Avraham Zeharia, Agnès Rötig, Pascale de Lonlay, Nathalie Boddaert, Anne-Sophie Lebre, Raïssa Zossou, Ann Saada, Marlène Rio, Marine Beinat, Florence Chretien
المصدر: Mitochondrion. 12:242-247
مصطلحات موضوعية: Male, Models, Molecular, Mitochondrial Diseases, Mitochondrial translation, Molecular Sequence Data, Encephalopathy, Mutation, Missense, Respiratory chain, Molecular Dynamics Simulation, Biology, medicine.disease_cause, Mitochondrial Proteins, Pregnancy, Mutant protein, medicine, Humans, Missense mutation, Amino Acid Sequence, Molecular Biology, Gene, Genetic Association Studies, Genetics, Mutation, Infant, Newborn, Brain, Infant, Sequence Analysis, DNA, Cell Biology, Peptide Elongation Factor G, medicine.disease, Magnetic Resonance Imaging, Phenotype, Radiography, Amino Acid Substitution, Molecular Medicine, Brain Damage, Chronic, Female, Mutant Proteins, Liver Failure
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المؤلفون: Zahra Assouline, Vladimir Benes, Patrick Nietschke, Daniel Sidi, Francis Brunelle, Valérie Serre, Agnès Rötig, Arnold Munnich, Louise Galmiche, Nathalie Boddaert, Dominique Chretien, Marlène Rio, Marine Beinat, Anne-Sophie Lebre
المصدر: Human Mutation. 32:1225-1231
مصطلحات موضوعية: Male, Ribosomal Proteins, Mitochondrial Diseases, Mitochondrial translation, Mitochondrial disease, DNA Mutational Analysis, Molecular Sequence Data, Respiratory chain, Biology, Compound heterozygosity, DNA, Mitochondrial, Ribosome assembly, Mitochondrial Proteins, Genetics, medicine, Humans, Missense mutation, Exome, Genetics (clinical), Exome sequencing, Sequence Deletion, Base Sequence, Infant, Newborn, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, Mitochondria, Mutation, Mutation (genetic algorithm), Female
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المصدر: Proceedings of the National Academy of Sciences. 106:14896-14901
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Cellular differentiation, Transgene, Molecular Probe Techniques, Biology, Genes, Reporter, Insulin-Secreting Cells, Internal medicine, medicine, Animals, Insulin, Glucose homeostasis, Interphase, Insulinoma, Zebrafish, Cell Proliferation, Regulation of gene expression, Multidisciplinary, Integrases, Gene Expression Regulation, Developmental, Cell Differentiation, Biological Sciences, medicine.disease, biology.organism_classification, Cell biology, medicine.anatomical_structure, Endocrinology, Pancreas
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المؤلفون: Eric Barrey, Jérôme Lecardonnel, Marine Beinat, Marco Moroldo, Alizée Nevot, Julie Rivière, Sandra Plancade, Caroline Morgenthaler, Céline Robert, Alicja Pacholewska, Núria Mach, Anne Vaiman
المساهمون: Génétique Animale et Biologie Intégrative (GABI), Institut National de la Recherche Agronomique (INRA)-AgroParisTech, Mathématiques et Informatique Appliquées du Génome à l'Environnement [Jouy-En-Josas] (MaIAGE), Institut National de la Recherche Agronomique (INRA), Department of Clinical Veterinary Medicine - Swiss Institute of Equine Medicine - Vetsuisse Faculty, University Hospital of Bern, Unité de biologie intégrative des adaptations à l'exercice (UBIAE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Fonds Eperon, Institut Francais du Cheval et de l'Equitation (IFCE), Association du Cheval Arabe (ACA), Swiss National Science Foundation [310030-138295], Swiss Institute of Equine Medicine Research, HAL, Univ Évry, Mach, Núria
المصدر: Scientific Reports
Scientific Reports, 2016, 6, pp.22932. ⟨10.1038/srep22932⟩
Mach, Núria; Plancade, Sandra; Pacholewska, Alicja Elzbieta; Lecardonnel, Jérôme; Rivière, Julie; Moroldo, Marco; Vaiman, Anne; Morgenthaler, Caroline; Beinat, Marine; Nevot, Alizée; Robert, Céline; Barrey, Eric (2016). Integrated mRNA and miRNA expression profiling in blood reveals candidate biomarkers associated with endurance exercise in the horse. Scientific Reports, 6(22932), p. 22932. Nature Publishing Group 10.1038/srep22932 <http://dx.doi.org/10.1038/srep22932>
Scientific Reports, Nature Publishing Group, 2016, 6, pp.22932. ⟨10.1038/srep22932⟩
Scientific Reports (6), 15 p.. (2016)مصطلحات موضوعية: 0301 basic medicine, 040301 veterinary sciences, [SDV]Life Sciences [q-bio], 610 Medicine & health, Computational biology, Biology, Bioinformatics, Article, 0403 veterinary science, Transcriptome, 03 medical and health sciences, Endurance training, Translational regulation, microRNA, Animals, Horses, RNA, Messenger, miRNA, endurance, Regulation of gene expression, Messenger RNA, Multidisciplinary, 630 Agriculture, 04 agricultural and veterinary sciences, [SDV] Life Sciences [q-bio], MicroRNAs, 030104 developmental biology, Gene Expression Regulation, Physical Endurance, 590 Animals (Zoology), cheval, profilage génétique, DNA microarray, biomarqueur, Biogenesis, Biomarkers, différential display d'arn-m
وصف الملف: application/pdf
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المؤلفون: Dominique Debray, Agnes Rötig, A. Slama, Emmanuel Jacquemin, Anne Davit-Spraul, Marine Beinat
المصدر: JIMD Reports ISBN: 9783662437476
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Mitochondrial respiratory chain, Neuroimaging, Mitochondrial disease, Respiratory Chain Deficiency, medicine, Respiratory chain, Biology, medicine.disease, Bioinformatics, Article, Tissue biopsy
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6
المؤلفون: Avraham Shaag, Daphna Marom, Anne-Marie Mager-Heckel, Hanna Mandel, Reeval Segel, Marine Beinat, Orly Elpeleg, Agnès Rötig, Olga Karicheva, Ivan Tarassov, Ann Saada, Orit Pappo, Avraham Zeharia, Noa Ofek
مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial DNA, Methyltransferase, Genotype, Biology, Mitochondrion, medicine.disease_cause, DNA, Mitochondrial, Mitochondrial Proteins, RNA, Transfer, Report, Internal medicine, Genetics, medicine, Humans, Genetics(clinical), Sulfhydryl Compounds, Genetics (clinical), tRNA Methyltransferases, Mutation, Infant, Newborn, Infant, Fibroblasts, Liver Failure, Acute, Disease gene identification, Mitochondria, TRNA Methyltransferases, Endocrinology, Liver, Protein Biosynthesis, Erratum, GTPBP3
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المؤلفون: Agnès Rötig, Arnold Munnich, Dominique Chretien, Nathalie Boddaert, Valérie Serre, Agata Rozanska, Marine Beinat, Zofia M.A. Chrzanowska-Lightowlers
المصدر: Biochimica et Biophysica Acta
مصطلحات موضوعية: Male, Models, Molecular, Ribosomal Proteins, Mitochondrial Diseases, POLRMT, Genotype, Mitochondrial translation, OXPHOS, oxidative phosphorylation, Molecular Sequence Data, Respiratory chain, Peptide Chain Elongation, Translational, Cell Cycle Proteins, Biology, Mitochondrion, medicine.disease_cause, POLRMT, mitochondrial RNA polymerase, Article, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, MRP, mitoribosomal protein, Ribosomal protein, Large ribosomal subunit, medicine, Humans, Disease, Amino Acid Sequence, Nuclear protein, Molecular Biology, Cells, Cultured, Growth Disorders, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Nuclear Proteins, OXPHOS defect, Fibroblasts, Mitochondria, COX, cytochrome c oxidase, Child, Preschool, Molecular Medicine, Nervous System Diseases, Mitoribosome, Protein synthesis, Sequence Alignment, 030217 neurology & neurosurgery