المؤلفون: Gorvin, CM, Loh, NY, Stechman, MJ, Falcone, S, Hannan, FM, Ahmad, BN, Piret, SE, Reed, AAC, Jeyabalan, J, Leo, P, Marshall, M, Sethi, S, Bass, P, Roberts, I, Sanderson, J, Wells, S, Hough, TA, Bentley, L, Christie, PT, Simon, MM, Mallon, A-M, Schulz, H, Cox, RD, Brown, MA, Huebner, N, Brown, SD, Thakker, RV

مصطلحات موضوعية: Male, Transcription, Genetic, Mutation, Missense, Nuclear Proteins, Apoptosis, Kidney, Chromosomes, Mammalian, Article, Disease Models, Animal, Mice, Nephrocalcinosis, Phenotype, Genetic Loci, Chromosome Segregation, Exome Sequencing, Animals, Female, Amino Acid Sequence, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9c54779c6d4c53398e8c393e1cacdb82
https://europepmc.org/articles/PMC6658219/

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المؤلفون: Kooblall KG; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK., Stevenson M; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK., Stewart M; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Harris L; The Francis Crick Institute London UK., Zalucki O; The School of Biomedical Sciences and The Queensland Brain Institute The University of Queensland Brisbane Australia., Dewhurst H; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK., Butterfield N; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK., Leng H; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK., Hough TA; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Ma D; Department of Internal Medicine Wake Forest University School of Medicine Winston-Salem NC USA., Siow B; The Francis Crick Institute London UK., Potter P; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Cox RD; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Brown SDM; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Horwood N; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK., Wright B; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK., Lockstone H; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK., Buck D; Oxford Genomics Centre, The Wellcome Centre for Human Genetics University of Oxford Oxford UK., Vincent TL; Centre for OA Pathogenesis Versus Arthritis, The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences (NDORMS) Medical Sciences Division University of Oxford Oxford UK., Hannan FM; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.; Nuffield Department of Women's and Reproductive Health University of Oxford Oxford UK., Bassett JHD; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK., Williams GR; Molecular Endocrinology Laboratory, Department of Metabolism, Digestion and Reproduction, Imperial College London Hammersmith Hospital London UK., Lines KE; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK., Piper M; The School of Biomedical Sciences and The Queensland Brain Institute The University of Queensland Brisbane Australia., Wells S; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Teboul L; MRC Harwell, Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK., Hennekam RC; Department of Pediatrics, Amsterdam UMC University of Amsterdam Amsterdam The Netherlands., Thakker RV; Academic Endocrine Unit, Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) University of Oxford Oxford UK.

المصدر: JBMR plus [JBMR Plus] 2023 Mar 30; Vol. 7 (6), pp. e10739. Date of Electronic Publication: 2023 Mar 30 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE

المؤلفون: Portero V; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands., Nicol T; Mammalian Genetics Unit, MRC Harwell Institute, Harwell, Oxfordshire, UK., Podliesna S; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands., Marchal GA; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands., Baartscheer A; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands., Casini S; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands., Tadros R; Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, Canada., Treur JL; Department of Psychiatry, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands., Tanck MWT; Amsterdam UMC, University of Amsterdam, Department of Epidemiology and Data Science, Amsterdam Public Health (APH), The Netherlands., Cox IJ; Institute of Hepatology London, Foundation for Liver Research, London, UK.; Faculty of Life Sciences & Medicine, Kings College, London, UK., Probert F; Department of Chemistry, University of Oxford, Oxford, UK., Hough TA; Mammalian Genetics Unit, MRC Harwell Institute, Harwell, Oxfordshire, UK., Falcone S; Mammalian Genetics Unit, MRC Harwell Institute, Harwell, Oxfordshire, UK., Beekman L; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands., Müller-Nurasyid M; Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; IBE, Faculty of Medicine, Ludwig Maximilian's University (LMU) Munich, Munich, Germany.; Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI), University Medical Center, Johannes Gutenberg University, Mainz, Germany., Kastenmüller G; Institute of Bioinformatics and Systems Biology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany., Gieger C; Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Neuherberg, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Centre for Cardiovascular Research (DZHK), Partner Site: Munich Heart Alliance, Munich, Germany., Peters A; Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; German Centre for Cardiovascular Research (DZHK), Partner Site: Munich Heart Alliance, Munich, Germany., Kääb S; German Centre for Cardiovascular Research (DZHK), Partner Site: Munich Heart Alliance, Munich, Germany.; Department of Medicine I (Cardiology), University Hospital, LMU Munich, Munich, Germany., Sinner MF; German Centre for Cardiovascular Research (DZHK), Partner Site: Munich Heart Alliance, Munich, Germany.; Department of Medicine I (Cardiology), University Hospital, LMU Munich, Munich, Germany., Blease A; Mammalian Genetics Unit, MRC Harwell Institute, Harwell, Oxfordshire, UK., Verkerk AO; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands., Bezzina CR; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands., Potter PK; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Remme CA; Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam UMC, Location AMC, Room K2-104.2, Meibergdreef 9, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

المصدر: Cardiovascular research [Cardiovasc Res] 2022 Jun 22; Vol. 118 (7), pp. 1742-1757.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford Journals Country of Publication: England NLM ID: 0077427 Publication Model: Print Cited Medium: Internet ISSN: 1755-3245 (Electronic) Linking ISSN: 00086363 NLM ISO Abbreviation: Cardiovasc Res Subsets: MEDLINE

مواضيع طبية MeSH: Calcium* , Heart Failure*, Amino Acids, Branched-Chain/metabolism ; Animals ; Humans ; Mice ; Myocytes, Cardiac/metabolism ; Sirolimus

المؤلفون: Guth BD; Boehringer Ingelheim GmbH & Co KG, Biberach an der Riss, Germany; North-West University, Potchefstroom, South Africa. Electronic address: brian.guth@boehringer-ingelheim.com., Grobler AF; North-West University, Potchefstroom, South Africa., Frazier KS; GlaxoSmithKline, King of Prussia, PA, USA., Greiter-Wilke A; Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd, Basel, Switzerland., Herzyk D; Merck Sharp & Dohme Corp., A subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA., Hough TA; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Khan AA; INFRAFRONTIER GmbH, Neuherberg, München, Germany., Markert M; Boehringer Ingelheim GmbH & Co KG, Biberach an der Riss, Germany., Smith JD; Boehringer-Ingelheim Pharmaceuticals Inc., Ridgefield, CT, USA., Svenson KL; The Jackson Laboratory, Bar Harbor, ME, USA., Wells S; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Pugsley MK; Safety Pharmacology Society, Fairfield, CT, USA.

المصدر: Journal of pharmacological and toxicological methods [J Pharmacol Toxicol Methods] 2019 Jul - Aug; Vol. 98, pp. 106579. Date of Electronic Publication: 2019 May 11.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9206091 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-488X (Electronic) Linking ISSN: 10568719 NLM ISO Abbreviation: J Pharmacol Toxicol Methods Subsets: MEDLINE

مواضيع طبية MeSH: Biological Products/*toxicity , Drug Industry/*methods , Drug-Related Side Effects and Adverse Reactions/*prevention & control , Risk Assessment/*methods, Animals ; Drug Evaluation, Preclinical/methods ; Humans ; Pharmacology/methods ; South Africa ; Toxicology/methods

المؤلفون: Gorvin CM; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Loh NY; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Stechman MJ; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Falcone S; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Hannan FM; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK., Ahmad BN; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Piret SE; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Reed AA; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Jeyabalan J; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Leo P; Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT) at Translational Research Institute, Brisbane, Australia., Marshall M; Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT) at Translational Research Institute, Brisbane, Australia., Sethi S; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Bass P; Department of Cellular Pathology, Royal Free Hospital, London, UK., Roberts I; Department of Cellular Pathology, John Radcliffe Hospital, Oxford, UK., Sanderson J; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Wells S; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Hough TA; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Bentley L; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Christie PT; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Simon MM; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Mallon AM; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Schulz H; Max-Delbrück-Center for Molecular Medicine, Berlin, Germany., Cox RD; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Brown MA; Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT) at Translational Research Institute, Brisbane, Australia., Huebner N; Max-Delbrück-Center for Molecular Medicine, Berlin, Germany., Brown SD; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, UK., Thakker RV; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2019 Jul; Vol. 34 (7), pp. 1324-1335. Date of Electronic Publication: 2019 Mar 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

مواضيع طبية MeSH: Mutation, Missense/*genetics , Nephrocalcinosis/*genetics , Nuclear Proteins/*genetics , Transcription Factors/*genetics, Amino Acid Sequence ; Animals ; Apoptosis/genetics ; Chromosome Segregation/genetics ; Chromosomes, Mammalian/genetics ; Disease Models, Animal ; Female ; Genetic Loci ; Kidney/pathology ; Male ; Mice ; Nephrocalcinosis/urine ; Nuclear Proteins/chemistry ; Phenotype ; Transcription Factors/chemistry ; Transcription, Genetic ; Exome Sequencing

المؤلفون: Gorvin CM; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Ahmad BN; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Stechman MJ; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Loh NY; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Hough TA; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Leo P; Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology at Translational Research Institute, Brisbane, Australia., Marshall M; Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology at Translational Research Institute, Brisbane, Australia., Sethi S; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Bentley L; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Piret SE; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Reed A; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Jeyabalan J; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Christie PT; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Wells S; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Simon MM; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Mallon AM; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Schulz H; Max-Delbrück-Center for Molecular Medicine, Berlin, Germany., Huebner N; Max-Delbrück-Center for Molecular Medicine, Berlin, Germany., Brown MA; Translational Genomics Group, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology at Translational Research Institute, Brisbane, Australia., Cox RD; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Brown SD; Mary Lyon Centre and Mammalian Genetics Unit, Medical Research Council, Harwell, UK., Thakker RV; Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2019 Mar; Vol. 34 (3), pp. 497-507. Date of Electronic Publication: 2018 Dec 14.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

مواضيع طبية MeSH: Calcinosis*/genetics , Calcinosis*/metabolism , Calcinosis*/pathology , Codon, Terminator* , DNA Polymerase gamma*/genetics , DNA Polymerase gamma*/metabolism , Kidney*/metabolism , Kidney*/pathology , Kidney Diseases*/genetics , Kidney Diseases*/metabolism , Kidney Diseases*/pathology, Ethylnitrosourea/*toxicity, Animals ; Mice ; Mice, Mutant Strains