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.

CaMKII inhibition due to TRIC-B loss-of-function dysregulates SMAD signalling in osteogenesis imperfecta
Matrix Biol. 2023 May 11:S0945-053X(23)00059-8. doi: 10.1016/j.matbio.2023.05.002. Online ahead of print.ABSTRACTCa2+ is a second messenger that regulates a variety of cellular responses in bone, including osteoblast differentiation. Mutations in trimeric intracellular cation channel B (TRIC-B), an endoplasmic reticulum channel specific for K+, a counter ion for Ca2+ flux, affect bone and cause a recessive form of osteogenesis imperfecta (OI) with a still puzzling mechanism. Using a conditional Tmem38b knock out mouse, we demonstrated that lack of TRIC-B in osteoblasts strongly impairs skeleton growth and structure, leadin...
Source: Matrix Biology - May 13, 2023 Category: Molecular Biology Authors: Roberta Besio Barbara M Contento Nadia Garibaldi Marta Filibian Stephan Sonntag Doron Shmerling Francesca Tonelli Marco Biggiogera Marisa Brini Andrea Salmaso Milena Jovanovic Joan C Marini Antonio Rossi Antonella Forlino Source Type: research

Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta
ConclusionsBone allografting in children with OI is a reliable method of biological fixation, allowing efficient fusion and contributing to increased bone capital and functional outcome. (Source: International Orthopaedics)
Source: International Orthopaedics - May 12, 2023 Category: Orthopaedics Source Type: research

Intracranial aneurysm as a possible complication of osteogenesis imperfecta: a case series and literature review
We describe three patients with OI with unruptured intracranial aneurysm (IA) detected by magnetic resonance angiography (MRA) screening of 14 patients. Case 1 was a 73-year-old woman with type 1 OI with blue sclera, vertebral compression fractures, and impaired hearing. Lumbar spine bone mineral density (BMD) was preserved (young adult mean (YAM): 86%). MRA revealed an IA in the right internal carotid artery. Case 2 was a 43-year-old man with type 4 OI and leg-length discrepancy due to left femoral neck fracture. Lumbar spine BMD was decreased (YAM: 61%). MRA showed an IA in the left anterior cerebral artery. Case 3 was a...
Source: Endocrine Journal - May 10, 2023 Category: Endocrinology Authors: Mari Matsushiro Daisuke Harada Kaoru Ueyama Hiroko Kashiwagi Yoshihito Ishiura Hiroyuki Yamada Yoshiki Seino Source Type: research

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report
ConclusionIn this case, DEGs between this OI patient and the normal control were identified by RNA transcriptome sequencing. Moreover, the possible pathogenesis of OI was also explored, which may provide new evidence for the treatment of OI. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - May 9, 2023 Category: Endocrinology Source Type: research

Pharmacological options in the treatment of osteogenesis imperfecta: a comprehensive review of clinical and potential alternatives
Biochem Pharmacol. 2023 May 4:115584. doi: 10.1016/j.bcp.2023.115584. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder characterized by bone fragility and different extra-skeletal manifestations. The severity of these manifestations makes it possible to classify OI into different subtypes based on the main clinical features. This review aims to outline and describe the current pharmacological alternatives for treating OI, grounded on clinical and preclinical reports, such as antiresorptive agents, anabolic agents, growth hormone, and anti-TGFβ antibody, a...
Source: Biochemical Pharmacology - May 6, 2023 Category: Drugs & Pharmacology Authors: Javier Mu ñoz-Garcia Dominique Heymann Irina Giurgea Marie Legendre Serge Amselem Beatriz Casta ñeda Fr édéric Lézot Jorge William Vargas-Franco Source Type: research

Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII
Biochim Biophys Acta Mol Basis Dis. 2023 May 3:166741. doi: 10.1016/j.bbadis.2023.166741. Online ahead of print.ABSTRACTGenetic mutations are involved in Mendelian disorders. Unbuffered intronic mutations in gene variants can generate aberrant splice sites in mutant transcripts, resulting in mutant isoforms of proteins with modulated expression, stability, and function in diseased cells. Here, we identify a deep intronic variant, c.794_1403A>G, in CRTAP by genome sequencing of a male fetus with osteogenesis imperfecta (OI) type VII. The mutation introduces cryptic splice sites in intron-3 of CRTAP, resulting in two matu...
Source: Biochimica et Biophysica Acta - May 5, 2023 Category: Biochemistry Authors: Prajna Udupa Akshaykumar Nanaji Shrikondawar Shalini S Nayak Hitesh Shah Akash Ranjan Katta M Girisha Gandham SriLakshmi Bhavani Debasish Kumar Ghosh Source Type: research

Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII
Biochim Biophys Acta Mol Basis Dis. 2023 May 3;1869(6):166741. doi: 10.1016/j.bbadis.2023.166741. Online ahead of print.ABSTRACTGenetic mutations are involved in Mendelian disorders. Unbuffered intronic mutations in gene variants can generate aberrant splice sites in mutant transcripts, resulting in mutant isoforms of proteins with modulated expression, stability, and function in diseased cells. Here, we identify a deep intronic variant, c.794_1403A>G, in CRTAP by genome sequencing of a male fetus with osteogenesis imperfecta (OI) type VII. The mutation introduces cryptic splice sites in intron-3 of CRTAP, resulting in ...
Source: Biochimica et Biophysica Acta - May 5, 2023 Category: Biochemistry Authors: Prajna Udupa Akshaykumar Nanaji Shrikondawar Shalini S Nayak Hitesh Shah Akash Ranjan Katta M Girisha Gandham SriLakshmi Bhavani Debasish Kumar Ghosh Source Type: research

The "PRIME Fix" for an osteogenesis imperfecta patient with intramedullary femoral nail cortical perforation and limb deformity
Asian J Surg. 2023 Apr 30:S1015-9584(23)00607-3. doi: 10.1016/j.asjsur.2023.04.094. Online ahead of print.NO ABSTRACTPMID:37130774 | DOI:10.1016/j.asjsur.2023.04.094 (Source: Asian Journal of Surgery)
Source: Asian Journal of Surgery - May 2, 2023 Category: Surgery Authors: Zhenchen Chu Zhuo Wang Jian Zhang Xin Tang Source Type: research