Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone.

Autor: Phillips J; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, Western General Hospital, University of Edinburgh, Edinburgh, UK., Subedi D; Department of Radiology and Nuclear Medicine, Western General Hospital, Edinburgh, UK., Lewis SC; Edinburgh Clinical Trials Unit, The Usher Institute, The University of Edinburgh, Edinburgh, UK., Keerie C; Edinburgh Clinical Trials Unit, The Usher Institute, The University of Edinburgh, Edinburgh, UK., Cronin O; Rheumatic Diseases Unit, Western General Hospital, Edinburgh, UK.; School of Medicine, University College Cork, University College Cork, National University of Ireland, Cork, Ireland., Porteous M; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, Western General Hospital, University of Edinburgh, Edinburgh, UK., Moore D; South East Scotland Molecular Genetics Service, NHS Lothian, Edinburgh, UK., Cetnarskyj R; School of Health Sciences, University of Dundee, Dundee, UK., Ranganath L; Clinical Biochemistry and Metabolic Medicine, University of Liverpool, Liverpool, UK., Selby PL; Department of Diabetes, Endocrinology and Metabolism, Manchester Royal Infirmary, Manchester, UK., Turgut T; Clinical Genetics, Manchester Centre for Genomic Medicine, Manchester University Hospitals Foundation NHS Trust, Manchester, UK., Hampson G; Department of Chemical Pathology, St Thomas' Hospital, London, UK., Chandra R; King's College Hospital, London, UK., Ho S; Rheumatology, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, UK.; Shrewsbury and Telford Hospital NHS Trust, Shrewsbury, UK., Tobias J; Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK., Young-Min S; Queen Alexandra Hospital, Portsmouth, UK., McKenna MJ; Department of Endocrinology and Diabetes Mellitus, St Vincent's University Hospital, Dublin, Ireland., Crowley RK; Department of Endocrinology and Diabetes Mellitus, St Vincent's University Hospital, Dublin, Ireland.; Rare Disease Clinical Trial Network, University College Dublin, Dublin, Ireland., Fraser WD; Norwich Medical School, University of East Anglia, Norwich, UK., Tang JCY; Departments of Endocrinology and Clinical Biochemistry, University of East Anglia, Norwich, UK., Gennari L; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy., Nuti R; Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy., Brandi ML; FIRMO Foundation, Florence, Italy.; Bone Centre, Università Vita-Salute San Raffaele, Milan, Italy., Del Pino-Montes J; Rheumatology, University of Salamanca, Salamanca, Spain., Devogelaer JP; Department of Rheumatology, Saint-Luc University Hospital, Université catholique de Louvain, Brussels, Belgium., Durnez A; Department of Rheumatology, Saint-Luc University Hospital, Université catholique de Louvain, Brussels, Belgium.; Department of Rheumatology, AZ Jan Portaels Hospital, Vilvoorde, Belgium., Isaia GC; University of Turin, Turin, Italy., Di Stefano M; University of Turin, Turin, Italy., Guanabens N; Department of Rheumatology, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain., Blanch Rubio J; Rheumatology Department, Hospital del Mar, Barcelona, Spain., Seibel MJ; Concord Repatriation General Hospital, Concord, New South Wales, Australia., Walsh JP; Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia., Rea SL; Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, Western Australia, Australia.; Perron Institute for Neurological and Translational Science, Perth, Western Australia, Australia., Kotowicz MA; Institute for Mental and Physical Health and Clinical Translation, Deakin University, Geelong, Victoria, Australia.; Department of Medicine at Western Health, The University of Melbourne, St Albans, Victoria, Australia.; University Hospital Geelong, Barwon Health, Geelong, Victoria, Australia., Nicholson GC; Rural Clinical School, The University of Queensland, Toowoomba, Queensland, Australia., Duncan EL; Endocrinology Department, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.; School of Life Course & Population Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.; Department of Endocrinology, Guy's and St Thomas' NHS Foundation Trust, London, UK., Major G; Rheumatology, John Hunter Hospital, New Lambton Heights, New South Wales, Australia.; Faculty of Medicine, The University of Newcastle, Callaghan, New South Wales, Australia., Horne A; Department of Medicine, The University of Auckland, Auckland, New Zealand., Gilchrist N; Princess Margaret Hospital, Christchurch, New Zealand., Ralston SH; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, Western General Hospital, University of Edinburgh, Edinburgh, UK stuart.ralston@ed.ac.uk.

Publikováno v: Annals of the rheumatic diseases [Ann Rheum Dis] 2024 Mar 12; Vol. 83 (4), pp. 529-536. Date of Electronic Publication: 2024 Mar 12.

A Panel-Based Sequencing Analysis of Patients with Paget's Disease of Bone Suggests Enrichment of Rare Genetic Variation in regulators of NF-κB Signaling and Supports the Importance of the 7q33 Locus.

Autor: De Ridder R; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium., Vandeweyer G; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium., Boudin E; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium., Hendrickx G; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium., Huybrechts Y; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium., Cremers TC; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium., Devogelaer JP; Department of Rheumatology, Saint-Luc University Hospital, Université Catholique de Louvain, Brussels, Belgium., Mortier G; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium., Fransen E; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium., Van Hul W; Center of Medical Genetics, University of Antwerp & Antwerp University Hospital, Antwerp, Belgium. wim.vanhul@uantwerpen.be.

Publikováno v: Calcified tissue international [Calcif Tissue Int] 2021 Dec; Vol. 109 (6), pp. 656-665. Date of Electronic Publication: 2021 Jun 25.

Gender-Related Impact of Sclerostin Antibody on Bone in the Osteogenesis Imperfecta Mouse.

Autor: Cardinal M; Pole of Morphology, Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Chretien A; Pole of Morphology, Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Roels T; Pole of Morphology, Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Lafont S; Pole of Morphology, Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Ominsky MS; Radius Inc., Waltham, MA, United States.; Amgen Inc., Thousand Oaks, CA, United States., Devogelaer JP; Pole of Rheumatic Pathologies, Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Manicourt DH; Pole of Rheumatic Pathologies, Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium., Behets C; Pole of Morphology, Institut de Recherche Expérimentale et Clinique, UCLouvain, Brussels, Belgium.

Publikováno v: Frontiers in genetics [Front Genet] 2021 Aug 10; Vol. 12, pp. 705505. Date of Electronic Publication: 2021 Aug 10 (Print Publication: 2021).

Rethinking Therapeutics: Drug Repurposing in Periodontal Therapy: A Narrative Review.

Autor: JAYACHANDRAN, GAURI¹, THOMAS, BIJU² bijunicy@yahoo.co.uk, KARTHIKA, G.¹

Publikováno v: Journal of Clinical & Diagnostic Research. Oct2024, Vol. 18 Issue 10, p1-6. 6p.

Characteristics of Early Paget's Disease in SQSTM1 Mutation Carriers: Baseline Analysis of the ZiPP Study Cohort.

Autor: Cronin O; Rheumatic Diseases Unit, Western General Hospital, Edinburgh, UK., Subedi D; Department of Radiology and Nuclear Medicine, Western General Hospital, Edinburgh, UK., Forsyth L; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Nine Edinburgh Bioquarter, Edinburgh, UK., Goodman K; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Nine Edinburgh Bioquarter, Edinburgh, UK., Lewis SC; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Nine Edinburgh Bioquarter, Edinburgh, UK., Keerie C; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Nine Edinburgh Bioquarter, Edinburgh, UK., Walker A; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Nine Edinburgh Bioquarter, Edinburgh, UK., Porteous M; South East Scotland Molecular Genetics Service, Western General Hospital, Edinburgh, UK., Cetnarskyj R; School of Health Sciences, University of Dundee, Kirkcaldy, UK., Ranganath LR; Department of Clinical Biochemistry and Metabolic Medicine, The University of Liverpool, UK., Selby PL; Department of Medicine, Manchester Royal Infirmary, Manchester, UK., Hampson G; Department of Chemical Pathology and Metabolic Bone Clinic, Department of Rheumatology, Guy's and St. Thomas' Hospital, London, UK., Chandra R; Clinical Biochemistry, King's College Hospital, London, UK., Ho S; The Robert Jones and Agnes Hunt Orthopaedic and District Hospital, Oswestry, UK., Tobias JH; Musculoskeletal Research Unit, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK., Young-Min SA; Department of Rheumatology, Queen Alexandra Hospital, Cosham, UK., McKenna MJ; Endocrinology Department, St. Vincent's University Hospital, Dublin, Republic of Ireland.; St Vincent's University Hospital and University College Dublin, Dublin, Republic of Ireland., Crowley RK; Endocrinology Department, St. Vincent's University Hospital, Dublin, Republic of Ireland.; St Vincent's University Hospital and University College Dublin, Dublin, Republic of Ireland., Fraser WD; Norwich Medical School, Faculty of Medicine and Health Sciences, University of East Anglia, Norwich, UK., Tang J; Norwich Medical School, Faculty of Medicine and Health Sciences, University of East Anglia, Norwich, UK., Gennari L; Department of Medicine, Surgery and Neurosciences, University of Sienna, Sienna, Italy., Nuti R; Department of Medicine, Surgery and Neurosciences, University of Sienna, Sienna, Italy., Brandi ML; Department of Internal Medicine, University Hospital of Careggi, Florence, Italy., Del Pino-Montes J; Rheumatology Department, University Hospital of Salamanca, Salamanca, Spain., Devogelaer JP; Clinique Universitaires Saint-Luc, Brussels, Belgium., Durnez A; Clinique Universitaires Saint-Luc, Brussels, Belgium., Isaia GC; Geriatrics and Metabolic Bone Diseases, AOU San Giovanni Battista di Torino Corso, Torino, Italy., Di Stefano M; Geriatrics and Metabolic Bone Diseases, AOU San Giovanni Battista di Torino Corso, Torino, Italy., Rubio JB; Hopital del Mar, Barcelona, Spain., Guanabens N; Department of Rheumatology, Hospital Clinic, CIBERehd, Barcelona, Spain., Seibel MJ; Department of Endocrinology and Metabolism, Concord Repatriation General Hospital, Sydney, Australia., Walsh JP; Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Australia.; Medical School, The University of Western Australia, Crawley, Australia., Kotowicz MA; Department of Endocrinology and Diabetes, Deakin University, Geelong, Australia., Nicholson GC; Rural Clinical School Research Centre, Darlin Heights, The University of Queensland, Brisbane, Australia., Duncan EL; Endocrinology Department, Royal Brisbane and Woman's Hospital, Herston, Australia.; Translational Genomics Group, Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Australia.; Faculty of Medicine, University of Queensland, Herston, Australia., Major G; Rheumatology, Bone and Joint Institute, Royal Newcastle Center, New Lambton Heights, Australia.; University of Newcastle, Callaghan, Australia., Horne A; Department of Medicine, Faculty of Medical and Health Sciences, University of Auckland, Auckland, New Zealand., Gilchrist NL; The CGM Research Trust, The Princess Margaret Hospital, Christchurch, New Zealand., Ralston SH; Rheumatic Diseases Unit, Western General Hospital, Edinburgh, UK.; Edinburgh Clinical Trials Unit, Usher Institute, University of Edinburgh, Nine Edinburgh Bioquarter, Edinburgh, UK.; Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK.

Publikováno v: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2020 Jul; Vol. 35 (7), pp. 1246-1252. Date of Electronic Publication: 2020 Apr 20.