المؤلفون: Gorvin, CM, Hannan, FM, Cranston, T, Valta, H, Makitie, O, Schalin-Jantti, C, Thakker, RV

المصدر: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 33(1):32-41

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137434673

المؤلفون: Gorvin, CM, Hannan, FM, Cranston, T, Valta, H, Makitie, O, Schalin-Jantti, C, Thakker, RV

المصدر: Journal of Bone and Mineral Research

مصطلحات موضوعية: Adult, Male, MAP Kinase Signaling System, PARATHYROID‐RELATED DISORDERS, Infant, Newborn, Infant, DISORDERS OF CALCIUM/PHOSPHATE METABOLISM, GTP-Binding Protein alpha Subunits, Pedigree, CELL/TISSUE SIGNALING, Loss of Function Mutation, ENDOCRINE PATHWAYS, Type C Phospholipases, THERAPEUTICS, Hypercalcemia, Humans, Original Article, Female, Amino Acid Sequence, Cinacalcet, Phosphorylation, Hydrophobic and Hydrophilic Interactions, Germ-Line Mutation, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::985c1933c146243cd20b25b7074f7cc4
http://europepmc.org/articles/PMC5813271

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/

المؤلفون: Gorvin, CM, Hannan, FM, Cranston, T, Valta, H, Makitie, O, Schalin-Jantti, C, Thakker, RV

المصدر: Journal of Bone and Mineral Research

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::d6687b986f0fcdaccbef2c4b2270ad8d
http://livrepository.liverpool.ac.uk/3009506/1/Gorvin_et_al-2017-Journal_of_Bone_and_Mineral_Research.pdf

المؤلفون: Gorvin, CM, Rogers, A, Hastoy, B, Tarasov, AI, Frost, M, Sposini, S, Inoue, A, Whyte, MP, Rorsman, P, Hanyaloglu, AC, Breitwieser, GE, Thakker, RV

المساهمون: Genesis Research Trust, Society for Endocrinology

مصطلحات موضوعية: endosomal signaling, GPCR, hypercalcemia, clathrin-mediated endocytosis, calcium signaling, adaptor protein-2, G proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::fb935a41a7445201c2216f05c80c2434
http://hdl.handle.net/10044/1/57074

المؤلفون: Piret, SE, Gorvin, CM, Pagnamenta, AT, Howles, SA, Cranston, T, Rust, N, Nesbit, MA, Glaser, B, Taylor, JC, Buchs, AE, Hannan, F, Thakker, RV

المصدر: Journal of Bone and Mineral Research

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::16f85bc76bd4f7b664517592bf3e34ed
http://livrepository.liverpool.ac.uk/2050820/1/Piret_et_al-2016-Journal_of_Bone_and_Mineral_Research.pdf

المؤلفون: Thompson MD; Krembil Brain Institute, Toronto Western Hospital, Toronto, Ontario, Canada., Reiner-Link D; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Berghella A; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Rana BK; Department of Psychiatry, University of California San Diego, San Diego, CA, USA., Rovati GE; Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy., Capra V; Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy., Gorvin CM; Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, United Kingdom., Hauser AS; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

المصدر: Critical reviews in clinical laboratory sciences [Crit Rev Clin Lab Sci] 2024 Aug 09, pp. 1-44. Date of Electronic Publication: 2024 Aug 09.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8914816 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-781X (Electronic) Linking ISSN: 10408363 NLM ISO Abbreviation: Crit Rev Clin Lab Sci Subsets: MEDLINE

المؤلفون: Thompson MD; Krembil Brain Institute, Toronto Western Hospital, Toronto, ON, Canada., Percy ME; Departments of Physiology and Obstetrics & Gynaecology, University of Toronto, Toronto, ON, Canada., Cole DEC; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada., Bichet DG; Department of Physiology and Medicine, Hôpital du Sacré-Coeur, Université de Montréal, QC, Canada., Hauser AS; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Gorvin CM; Institute of Metabolism and Systems Research (IMSR), University of Birmingham, Birmingham, West Midlands, UK.

المصدر: Critical reviews in clinical laboratory sciences [Crit Rev Clin Lab Sci] 2024 Aug; Vol. 61 (5), pp. 317-346. Date of Electronic Publication: 2024 Mar 18.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 8914816 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-781X (Electronic) Linking ISSN: 10408363 NLM ISO Abbreviation: Crit Rev Clin Lab Sci Subsets: MEDLINE

مواضيع طبية MeSH: Receptors, G-Protein-Coupled*/genetics , Receptors, G-Protein-Coupled*/metabolism , Genetic Variation*, Humans ; Genetic Diseases, Inborn/genetics ; Mutation/genetics

المؤلفون: Martin CS; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Crastin A; School of Biomedical Sciences. Institute of Clinical Sciences, University of Birmingham, Birmingham, UK., Sagmeister MS; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Kalirai MS; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Turner JD; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK., MacDonald L; Centre of Immunobiology, Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Kurowska-Stolarska M; Centre of Immunobiology, Institute of Infection, Immunity and Inflammation, College of Medical, Veterinary and Life Sciences, University of Glasgow, UK., Scheel-Toellner D; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK., Taylor AE; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Gilligan LC; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Storbeck K; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; Department of Biochemistry, Stellenbosch University, Stellenbosch, South Africa., Price M; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Gorvin CM; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., A F; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK., Mahida R; University of Birmingham, Birmingham, West Midlands Uk., Clark AR; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK., Jones SW; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; School of Biomedical Sciences. Institute of Clinical Sciences, University of Birmingham, Birmingham, UK., Raza K; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; MRC Arthritis Research UK Centre for Musculoskeletal Ageing Research, University of Birmingham, Birmingham, UK; Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK., Hewison M; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Hardy RS; Institute of Inflammation and Ageing, University of Birmingham, Birmingham, UK; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; School of Biomedical Sciences. Institute of Clinical Sciences, University of Birmingham, Birmingham, UK; MRC Arthritis Research UK Centre for Musculoskeletal Ageing Research, University of Birmingham, Birmingham, UK. Electronic address: r.hardy@bham.ac.uk.

المصدر: Journal of autoimmunity [J Autoimmun] 2024 Jul; Vol. 147, pp. 103263. Date of Electronic Publication: 2024 Jun 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 8812164 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9157 (Electronic) Linking ISSN: 08968411 NLM ISO Abbreviation: J Autoimmun Subsets: MEDLINE

مواضيع طبية MeSH: Arthritis, Rheumatoid*/metabolism , Arthritis, Rheumatoid*/immunology , Arthritis, Rheumatoid*/pathology , Macrophages*/metabolism , Macrophages*/immunology , Inflammation*/metabolism , Inflammation*/immunology , 11-beta-Hydroxysteroid Dehydrogenase Type 1*/metabolism , 11-beta-Hydroxysteroid Dehydrogenase Type 1*/genetics, Humans ; Aldo-Keto Reductase Family 1 Member C3/metabolism ; Synovial Fluid/metabolism ; Synovial Fluid/immunology ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/metabolism ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics ; Membrane Proteins/metabolism ; Membrane Proteins/genetics ; Male ; Female ; Synovial Membrane/metabolism ; Synovial Membrane/pathology ; Synovial Membrane/immunology ; Cells, Cultured ; Glucocorticoids/metabolism ; Steroids/metabolism ; Gene Expression Regulation ; Hydroxysteroid Dehydrogenases

المؤلفون: Gorvin CM; Institute of Metabolism and Systems Research (IMSR) and Centre for Diabetes, Endocrinology and Metabolism (CEDAM), University of Birmingham, Birmingham, B15 2TT, UK. c.gorvin@bham.ac.uk.; Centre for Membrane Proteins and Receptors (COMPARE), Universities of Birmingham and Nottingham, Birmingham, B15 2TT, UK. c.gorvin@bham.ac.uk.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jun 05. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article; Comment

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE