Results 21 to 30 of about 67,445 (255)

Plastin 3 in X-Linked Osteoporosis: Imbalance of Ca2+-Dependent Regulation Is Equivalent to Protein Loss

Frontiers in Cell and Developmental Biology, 2021
Osteogenesis imperfecta is a genetic disorder disrupting bone development and remodeling. The primary causes of osteogenesis imperfecta are pathogenic variants of collagen and collagen processing genes.
Christopher L. Schwebach, Elena Kudryashova, Dmitri S. Kudryashov   +2 more
doaj   +1 more source

MANAGEMENT OF ENDOCRINE DISEASE: Osteogenesis imperfecta: an update on clinical features and therapies.

European Journal of Endocrinology, 2020
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to ...
Ronit Marom, Brien M. Rabenhorst, R. Morello   +2 more
semanticscholar   +1 more source

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta

Children, 2021
Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for COL1A1
M. Holick, A. Shirvani, N. Charoenngam
semanticscholar   +1 more source

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams

Acta Orthopaedica, 2021
Background and purpose — Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient’s viewpoint and better comparability of outcomes.
Ralph J Sakkers, Kathleen Montpetit, Argerie Tsimicalis, Thomas Wirth, Marjolein Verhoef, Reginald Hamdy, Jean A Ouellet, Rene M Castelein, Chantal Damas, Guus J Janus, Wouter H Nijhuis, Leonardo Panzeri, Simona Paveri, Dagmar Mekking, Kelly Thorstad, Richard W Kruse   +15 more
doaj   +1 more source

Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

Orphanet Journal of Rare Diseases, 2021
Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics.
Muhammad Kassim Javaid, Marina Mordenti, Manila Boarini, Luca Sangiorgi, ERN BOND Working Group, Ingunn Westerheim, Inês Alves, Rebecca Tvedt Skarberg, Natasha M. Appelman-Dijkstra, Corinna Grasemann   +9 more
doaj   +1 more source

Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements

Bone Reports, 2018
An expert center for adults with Osteogenesis Imperfecta (OI) has been founded at the Isala Hospital in Zwolle, the Netherlands to achieve optimal care for adults with OI.
Luuk J.J. Scheres, Fleur S. van Dijk, Arjan J. Harsevoort, Atty T.H. van Dijk, Anne Marieke Dommisse, Guus J.M. Janus, Anton A.M. Franken   +6 more
doaj   +1 more source

Surgical Treatment of a Bilateral Mandibular Fracture in a Patient with Osteogenesis Imperfecta Type III

Plastic and Reconstructive Surgery, Global Open, 2021
Summary:. Osteogenesis imperfecta is a group of genetic disorders affecting skeletal and connective tissue that commonly presents with a history of multiple fractures.
Mac Kenzie J. Reece, DO, MS, Kyle Quillin, DO, Tyler Jay Homewood, DO, Jared Bunevich, DO, Ms. Ed   +3 more
doaj   +1 more source

Osteogenesis imperfecta—pathophysiology and therapeutic options

Molecular and Cellular Pediatrics, 2020
Osteogenesis imperfecta (OI) is a rare congenital disease with a wide spectrum of severity characterized by skeletal deformity and increased bone fragility as well as additional, variable extraskeletal symptoms.
Julia Etich, Lennart Lessmeier, M. Rehberg, H. Sill, F. Zaucke, C. Netzer, O. Semler   +6 more
semanticscholar   +1 more source

Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

Journal of Bone and Mineral Research, 2020
Osteogenesis imperfecta (OI) is a primary bone fragility disorder with an estimated prevalence of 1 in 15,000 births. The majority of OI cases are inherited in an autosomal‐dominant manner, while 5% to 10% have recessive or X‐linked inheritance.
J. Dubail, Perrine Brunelle, G. Baujat, C. Huber, M. Doyard, C. Michot, P. Chavassieux, A. Khairouni, V. Topouchian, S. Monnot, E. Koumakis, V. Cormier-Daire   +11 more
semanticscholar   +1 more source

Stem Cell Therapy as a Treatment for Osteogenesis Imperfecta

Current Osteoporosis Reports, 2020
Osteogenesis imperfecta (OI) is a chronic disease with few treatment options available. The purpose of this review is to provide an overview on treating OI with mesenchymal stem cells (MSC).
C. Götherström, L. Walther-Jallow
semanticscholar   +1 more source