Associated Papers
Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.
Cotti S et al.
Clinical Science (london, England : 1979), 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.
Lindelöf H et al.
European Journal of Human Genetics : Ejhg, 2025
A Distinctive Skeletal Phenotype in an Adult With IFITM5 -Associated Osteogenesis Imperfecta due to p.Ser40Leu Variant.
Amalnath D et al.
American Journal of Medical Genetics. Part A, 2025
Osteogenesis imperfecta type V: About a clinical case.
Reinoso Gomezcoello MF et al.
Endocrinologia, Diabetes Y Nutricion, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.
Sillence DO
Calcified Tissue International, 2024
Update on the Genetics of Osteogenesis Imperfecta.
Jovanovic M et al.
Calcified Tissue International, 2024
Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.
Marulanda J et al.
Calcified Tissue International, 2024
Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.
Misof BM et al.
Calcified Tissue International, 2024
The 'dispanins' and related proteins in physiology and neurological disease.
Deuis JR et al.
Trends in Neurosciences, 2024
IFITM5-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report.
Martínez-Montoya V et al.
Bone Reports, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
Yap JYC et al.
American Journal of Medical Genetics. Part A, 2024
Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches.
Sun Y et al.
Acs Pharmacology & Translational Science, 2024
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L et al.
Fetal Diagnosis and Therapy, 2024
A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy-Case Report and Literature Review.
Vankevičienė K et al.
Genes, 2023
Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
Yu H et al.
Orphanet Journal of Rare Diseases, 2023
Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.
Panzaru MC et al.
World Journal of Clinical Cases, 2023
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP et al.
Bone, 2023
Abnormal signal pathways and tumor heterogeneity in osteosarcoma.
Sun Y et al.
Journal of Translational Medicine, 2023
An Update on Animal Models of Osteogenesis Imperfecta.
Lv F et al.
Calcified Tissue International, 2022
Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review
Tyurin A et al.
Biomedicines, 2022
Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta.
Hedjazi G et al.
Bone, 2022
Antagonism Between PEDF and TGF-β Contributes to Type VI Osteogenesis Imperfecta Bone and Vascular Pathogenesis.
Kang H et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Specific Characteristic of Hyperplastic Callus in a Larger Cohort of Osteogenesis Imperfecta Type V.
Zheng WB et al.
Calcified Tissue International, 2022
The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.
Maranda V et al.
International Journal of Molecular Sciences, 2022
Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.
Jovanovic M et al.
Endocrine Reviews, 2022
Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure.
Ballenger KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
A Patient with Bone Fragility, Multiple Fractures, Osteosarcoma, and the Variant c.143A>G in the IFITM5 Gene: A Case Report.
Pachajoa H et al.
Orthopedic Research and Reviews, 2022
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.
Mäkitie RE et al.
Calcified Tissue International, 2021
An Unusual Presentation of Osteogenesis Imperfecta: A Case Report.
Lindsay SE et al.
Jbjs Case Connector, 2021
Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.
Zhang L et al.
Clinical Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta.
Zhytnik L et al.
Bmc Medical Genomics, 2020
A novel variant of the IFITM5 gene within the 5'-UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.
Wu D et al.
Molecular Genetics & Genomic Medicine, 2020
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
Han J et al.
Prenatal Diagnosis, 2020
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R et al.
The Febs Journal, 2019
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature.
Lim JY et al.
Clinical Dysmorphology, 2019
Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5.
Dagdeviren D et al.
American Journal of Medical Genetics. Part A, 2019
Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review.
Cao YJ et al.
Frontiers in Endocrinology, 2019
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta.
Rodriguez Celin M et al.
Annals of Human Genetics, 2018
Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation.
Blouin S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
A prenatal case of osteogenesis imperfecta diagnosed with next-generation sequencing.
He Y et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2017
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
Kang H et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2017
The osteogenic cell surface marker BRIL/IFITM5 is dispensable for bone development and homeostasis in mice.
Patoine A et al.
Plos One, 2017
Osteogenesis imperfecta type V: Genetic and clinical findings in eleven Chinese patients.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
IFITM5 mutations and osteogenesis imperfecta.
Hanagata N
Journal of Bone and Mineral Metabolism, 2016