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1
المؤلفون: Andreas Steudter, Joerg Heeren, Ahmed Ghallab, Joerg Reinders, Johannes Herkel, Björn Wieschendorf, Antonella Carambia, Christoph Schramm, Dorothee Schwinge, Sebastian Zuehlke, Ansgar W. Lohse, Christoph Lommetz, Fenja Amrei Schuran
المصدر: Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology, 11(2):371-388مصطلحات موضوعية: 0301 basic medicine, Male, Indoles, Ahr, AST, aspartate aminotransferase, Pharmacology, Mice, 0302 clinical medicine, APAP, Acute Liver Failure, Cyp1a2, Basic Helix-Loop-Helix Transcription Factors, GSH, glutathione, TUNEL, terminal deoxynucleotidyl transferase-mediated dUTP nick end labelling, Original Research, Liver injury, Mice, Knockout, biology, Chemistry, digestive, oral, and skin physiology, Gastroenterology, respiratory system, HSC, hepatic stellate cell, medicine.anatomical_structure, Liver, Ahr, aryl hydrocarbon receptor, Hepatocyte, Knockout mouse, 030211 gastroenterology & hepatology, Female, Chemical and Drug Induced Liver Injury, medicine.drug, APAP, acetaminophen, 03 medical and health sciences, ALT, alanine aminotransferase, medicine, Animals, Humans, Transcription factor, Aryl hydrocarbon receptor activity, Acetaminophen, Hepatology, CYP1A2, Liver Failure, Acute, Aryl hydrocarbon receptor, medicine.disease, Disease Models, Animal, Thiazoles, 030104 developmental biology, Receptors, Aryl Hydrocarbon, biology.protein, Hepatocytes, H&E, hematoxylin and eosin, NPC, nonparenchymal cell
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b042fbf1a6202ae6e40d984dc3eeab5Test
https://pubmed.ncbi.nlm.nih.gov/32932016Test -
2
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: Hiroshi Nonoguchi, Anisha Wijeyesekera, Robert J. Unwin, Peter J. Oefner, Andrew M. Hall, Katja Dettmer, Graciana Jaureguiberry, Ralph Witzgall, Jeremy K. Nicholson, Josef Schroeder, Markus Reichold, Enriko Klootwijk, Asad Tolaymat, Horia Stanescu, Robert Kleta, Mohammad Ilyas, Richard Warth, Mauricio Arcos-Burgos, Elaine Holmes, Dominika Peindl, Stephan W. Reinhold, Holly Courtneidge, Kevin O'Brien, Amanda Helip-Wooley, Karin Eberhart, Janardan K. Reddy, Niels Zorger, Detlef Bockenhauer, William A. Gahl, Isa Bernardini, Kathrin Renner, Christina Sterner, Donna M. Krasnewich, Yuichiro Izumi, Joerg Reinders, Steven L. Robinette, Nadine Assmann, Yuzhi Jia, Carsten Broeker
المساهمون: University of Zurich, Kleta, Robert
المصدر: The New England journal of medicine. 370(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, 10017 Institute of Anatomy, Genetic Linkage, Molecular Sequence Data, Mutation, Missense, Black People, 610 Medicine & health, 2700 General Medicine, Mitochondrion, Biology, Peroxisomal Bifunctional Enzyme, Kidney Tubules, Proximal, Mice, Internal medicine, medicine, Missense mutation, Animals, Humans, Amino Acid Sequence, Mice, Knockout, Fanconi syndrome, General Medicine, Sequence Analysis, DNA, Peroxisome, medicine.disease, Fanconi Syndrome, Molecular biology, Mitochondria, Pedigree, Disease Models, Animal, Endocrinology, Phenotype, Cystinosis, Knockout mouse, 570 Life sciences, biology, Female, Chromosomes, Human, Pair 3, Haploinsufficiency
وصف الملف: nejmoa1307581.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5f5553fb19e1d533e32bc9dc20a6097Test
https://pubmed.ncbi.nlm.nih.gov/24445742Test -
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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