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المؤلفون: Mahim Jain, Daniela Iancu, Joana Raquel Martins, Robert J. Unwin, Kathrin Renner, Naomi Issler, Chi-Un Choe, Hannes Doellerer, Ralph Witzgall, Stephen B. Walsh, Sulochana Devi, Monika Mozere, Robert Kleta, Johann M.B Simbuerger, Kevin O'Brien, Anne Kesselheim, Markus Reichold, Paldeep S. Atwal, Michael Kasgharian, Uta Lichter-Konecki, William A. Gahl, Carlos Ferreira, Julia Wiesner, Vaksha Patel, Horia Stanescu, Peter J. Oefner, Graciana Jaureguiberry, Christopher W. Pugh, Mario Milani, Joerg Reinders, Christina Sterner, Detlef Bockenhauer, Sue Povey, Simona Dumitriu, Chris Laing, Ben Davies, Carsten Broeker, David S. Konecki, Roland Schmitt, Alexander Hammers, Richard Sandford, Enriko Klootwijk, Dirk Isbrandt, Richard Warth, Daniel P. Gale, Andrew M. Hall, Alberto Cebrian-Serrano, Alexander J. Howie, Weibin Zhou, Geoffrey Charles-Edwards, Ines Tegtmeier, Edgar A. Otto, Mehmet Tekman, Katja Dettmer
المصدر: Journal of the American Society of Nephrology 29(7), 1849-1858 (2018). doi:10.1681/ASN.2017111179
Journal of the American Society of Nephrology 29 (2018): 1849–1858. doi:10.1681/ASN.2017111179
info:cnr-pdr/source/autori:Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R/titolo:Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure/doi:10.1681%2FASN.2017111179/rivista:Journal of the American Society of Nephrology/anno:2018/pagina_da:1849/pagina_a:1858/intervallo_pagine:1849–1858/volume:29مصطلحات موضوعية: complications [Fanconi Syndrome], Male, 0301 basic medicine, Nephrology, metabolism [Amidinotransferases], Amidinotransferases, metabolism [Kidney Failure, Chronic], Inflammasomes, Molecular Conformation, 030232 urology & nephrology, Mitochondrion, pathology [Mitochondria], Mice, chemistry.chemical_compound, pathology [Fanconi Syndrome], 0302 clinical medicine, Missense mutation, metabolism [Reactive Oxygen Species], Mice, Knockout, Kidney, metabolism [Fanconi Syndrome], Genetic disorder, General Medicine, etiology [Kidney Failure, Chronic], Mitochondria, Pedigree, Editorial, medicine.anatomical_structure, Knockout mouse, genetics [Amidinotransferases], Female, Heterozygote, medicine.medical_specialty, Mutation, Missense, Biology, Creatine, genetics [Kidney Failure, Chronic], Young Adult, 03 medical and health sciences, genetic diseases, Tubulopathy, Internal medicine, genetics [Fanconi Syndrome], glycine amidinotransferase, medicine, Animals, Humans, Computer Simulation, ddc:610, Aged, Infant, Sequence Analysis, DNA, Fanconi Syndrome, metabolism [Mitochondria], medicine.disease, 030104 developmental biology, chemistry, Mutation, Cancer research, Kidney Failure, Chronic, pathology [Kidney Failure, Chronic], Reactive Oxygen Species, metabolism [Inflammasomes]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baaa6ddb5c84630d07d85e382ece0673Test
https://doi.org/10.1681/asn.2017111179Test -
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المؤلفون: Karin M Danzer, Karlheinz Holzmann, Susanne Petri, Jens Michaelis, Markus Otto, Sarah J Brockmann, Jochen H. Weishaupt, Axel Freischmidt, Albert C. Ludolph, David A. Brenner, Peter M. Andersen, Dietmar Rudolf Thal, Joerg Reinders, Steffen Just, Anika M. Helferich, Dhruva Deshpande
المصدر: Cellular and molecular life sciences : CMLS. 75(23)
مصطلحات موضوعية: 0301 basic medicine, Male, Microtubule-associated protein, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Downregulation and upregulation, Tubulin, microRNA, medicine, Animals, Humans, Genetic Predisposition to Disease, Axon, Amyotrophic lateral sclerosis, Molecular Biology, Zebrafish, Cells, Cultured, Aged, Pharmacology, biology, Gene Expression Profiling, HEK 293 cells, Amyotrophic Lateral Sclerosis, Brain, Cell Biology, Middle Aged, biology.organism_classification, medicine.disease, Gene expression profiling, Mice, Inbred C57BL, MicroRNAs, 030104 developmental biology, medicine.anatomical_structure, HEK293 Cells, Cancer research, Molecular Medicine, Female, Microtubule-Associated Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c5eebb27dd28c0abdb9fb1433fe2dcTest
https://pubmed.ncbi.nlm.nih.gov/30030593Test -
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المؤلفون: Stanislava Blažičková, Klaus Stark, Joerg Reinders, Anja K. Bosserhoff, Simone Kaufmann, Jozef Rovensky, Peter J. Oefner, Anke Ruedel, Richard Bauer
مصطلحات موضوعية: Adult, Male, ddc:500, Chromatin Immunoprecipitation, Genotype, 610 Medizin, Electrophoretic Mobility Shift Assay, Enzyme-Linked Immunosorbent Assay, Biology, Biochemistry, Young Adult, Binding Sites/physiology, Osteoarthritis, Gene expression, Genetics, 570 Biowissenschaften, Biologie, Humans, Electrophoretic mobility shift assay, Allele, Promoter Regions, Genetic, Polymorphism, Genetic/genetics, Molecular Biology, Transcription factor, Gene, Cells, Cultured, Aged, Aged, 80 and over, ddc:610, Binding Sites, Polymorphism, Genetic, Osteoarthritis/genetics, Reverse Transcriptase Polymerase Chain Reaction, Cadherins/genetics, Promoter, Middle Aged, Cadherins, Molecular biology, Promoter Regions, Genetic/genetics, CDH2, genetic association study, hnRNP K, rs11564299, DNA binding site, Minor allele frequency, Female, ddc:570, 500 Naturwissenschaften, Biotechnology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60e69e1e2bdb605b9521955903d54c8Test