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Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis.
Sci Rep
April 2024
Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris Cité, Oral Molecular Pathophysiology, 75006, Paris, France.
Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes a kinase that phosphorylates most of the secreted proteins found in the body fluids and extracellular matrix. The most common RNS clinical features are generalized osteosclerosis, facial dysmorphism, intracerebral calcifications and respiratory defects.
View Article and Find Full Text PDFFibrogenesis imperfecta ossium: an acquired incapacitating bone disease.
Clin Rheumatol
September 2021
Rheumatology Department, Hospital Universitari Germans Trias i Pujol, Carretera del Canyet, s/n, 08916, Badalona, Spain.
Fibrogenesis Imperfecta Ossium.
Calcif Tissue Int
May 2019
Bone & Mineral Research Laboratory, Henry Ford Health System, Detroit, MI, USA.
Fibrogenesis imperfecta ossium (FIO) is an extremely uncommon fatal bone disorder of poorly understood etiology. The pathogenesis of FIO is not well known. The fundamental skeletal defect appears to be an abnormality in organic matrix of bone characterized by defective mineralization of the abnormal collagen.
View Article and Find Full Text PDFFibrogenesis Imperfecta Ossium: Clinical Approach to Diagnosis and Management of a Rare Skeletal Disorder.
J Clin Endocrinol Metab
September 2019
Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Context: Fibrogenesis imperfecta ossium (FIO) is a rare and progressive skeletal bone disorder of undetermined etiology. Given its rareness, the pathogenesis of FIO remains elusive and no effective treatment exists. Based on review of all published cases and our collective experience of FIO, we offer a comprehensive approach for the diagnosis and management of this complex and fatal disorder.
View Article and Find Full Text PDFClinical, cellular, microscopic, and ultrastructural studies of a case of fibrogenesis imperfecta ossium.
Bone Res
March 2017
Department of Endocrinology, Royal North Shore Hospital, St Leonards 2065, New South Wales, Australia; Faculty of Medicine, University of Sydney, Sydney 2006, New South Wales, Australia.
Fibrogenesis imperfecta ossium is a rare disorder of bone usually characterized by marked osteopenia and associated with variable osteoporosis and osteosclerosis, changing over time. Histological examination shows that newly formed collagen is abnormal, lacking birefringence when examined by polarized light. The case presented demonstrates these features and, in addition, a previously undocumented finding of a persistent marked reduction of the serum C3 and C4.
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