Osteogenesis Imperfecta (brittle bone disease) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study
Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Online ahead of print.ABSTRACTOsteogenesis Imperfecta (OI) is a heritable collagen-related bone dysplasia characterized by bone fractures, growth deficiency and skeletal deformity. Type XIV OI is a recessive OI form caused by null mutations in TMEM38B, which encodes the ER membrane intracellular cation channel TRIC-B. Previously, we showed that absence of TMEM38B alters calcium flux in the ER of OI patient osteoblasts and fibroblasts, which further disrupts collagen synthesis and secretion. How the absence of TMEM38B affects osteoblast funct...
Source: Matrix Biology - June 22, 2023 Category: Molecular Biology Authors: Milena Jovanovic Apratim Mitra Roberta Besio Barbara Maria Contento Ka Wai Wong Alberta Derkyi Michael To Antonella Forlino Ryan K Dale Joan C Marini Source Type: research

Efficacy of Bisphosphonate for Urolithiasis Complicated by Osteogenesis Imperfecta: A Case Report
Intern Med. 2023 Jun 21. doi: 10.2169/internalmedicine.1871-23. Online ahead of print.ABSTRACTA 44-year-old man with osteogenesis imperfecta presented with left renal colic. Non-contrast computed tomography revealed a stone (10×9 mm) in the left upper ureter. Ureteroscopic lithotripsy was performed twice and stone-free status was achieved. An analysis of the stone revealed a mixed composition including calcium oxalate and calcium phosphate. Postoperatively, we administered bisphosphonates to prevent recurrence of urolithiasis, as 24-h urine collection revealed marked hypercalciuria. Eighteen months after surgery, the urin...
Source: Internal Medicine - June 21, 2023 Category: Internal Medicine Authors: Ryusuke Deguchi Yasuo Kohjimoto Yohei Maruyama Yuya Iwahashi Satoshi Muraoka Takahito Wakamiya Shimpei Yamashita Isao Hara Source Type: research

Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure
Matrix Biol. 2023 Jun 17:S0945-053X(23)00073-2. doi: 10.1016/j.matbio.2023.06.003. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI) is a family of rare heritable skeletal disorders associated with dominant mutations in the collagen type I encoding genes and recessive defects in proteins involved in collagen type I synthesis and processing and in osteoblast differentiation and activity. Historically, it was believed that the OI bone phenotype was only caused by abnormal collagen type I fibrils in the extracellular matrix, but more recently it became clear that the altered bone cell homeostasis, due to mutant colla...
Source: Matrix Biology - June 19, 2023 Category: Molecular Biology Authors: Valentina Daponte Francesca Tonelli Cecilia Masiero Delfien Syx Chlo é Exbrayat-Héritier Marco Biggiogera Andy Willaert Antonio Rossi Paul J Coucke Florence Ruggiero Antonella Forlino Source Type: research

Fixation techniques in lower extremity correction osteotomies and fractures in mild-to-severe osteogenesis imperfecta patients: evaluation of the results and complications
Osteogenesis imperfecta is a genetic disorder leading to multiple fractures and deformities. Intramedullary rods have been used in the surgical treatment of osteogenesis imperfecta for decades. Complication ra... (Source: Journal of Orthopaedic Surgery and Research)
Source: Journal of Orthopaedic Surgery and Research - June 16, 2023 Category: Orthopaedics Authors: Abdulsamet Emet, Engin Turkay Yilmaz, Murat Danisman, Cemalettin Aksoy and Guney Yilmaz Tags: Research article Source Type: research

RNA Sequencing of Urine ‐Derived Cells for the Characterisation and Diagnosis of Osteogenesis Imperfecta
In conclusion, UDC are suitable for RNA transcript analysis in patients with suspected OI and can provide functional evidence for pathogenicity, in particular of variants affecting splicing.This article is protected by copyright. All rights reserved. (Source: Journal of Bone and Mineral Research)
Source: Journal of Bone and Mineral Research - June 10, 2023 Category: Orthopaedics Authors: Karissa Ludwig, Zenghui Wu, Ghalib Bardai, Patrizia Mason, Leanne M Ward, Pierre Moffatt, Frank Rauch Tags: Research Article Source Type: research

TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta
This study expands the spectrum of OI-causing TAPT1 mutations and links extracellular matrix changes to signaling regulation.PMID:37292039 | DOI:10.15252/emmm.202317528 (Source: Molecular Medicine)
Source: Molecular Medicine - June 9, 2023 Category: Molecular Biology Authors: Julia Etich Oliver Semler Nicola L Stevenson Alice Stephan Roberta Besio Nadia Garibaldi Nadine Reintjes Claudia Dafinger Max Christoph Liebau Ulrich Baumann Matthias M örgelin Antonella Forlino David J Stephens Christian Netzer Frank Zaucke Mirko Rehber Source Type: research

Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1
AbstractPathogenic variants in theLRP5,PLS3, orWNT1 genes can significantly affect bone mineral density, causing monogenic osteoporosis. Much remains to be discovered about the phenotype and medical care needs of these patients. The purpose of this study was to examine the use of medical care among Dutch individuals identified between 2014 and 2021 with a pathogenic or suspicious rare variant inLRP5,PLS3, orWNT1. In addition, the aim was to compare their medical care utilization to both the overall Dutch population and the Dutch Osteogenesis Imperfecta (OI) population. The Amsterdam UMC Genome Database was used to match 92...
Source: Calcified Tissue International - June 6, 2023 Category: Orthopaedics Source Type: research