Associated Papers
Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.
Hoseinbeyki M et al.
Iranian Biomedical Journal, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.
Demir K et al.
Odontology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation
Özen S et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Letter to the editor of Heliyon re: A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report [Heliyon 2024; 10(7): e28680].
Abdulmalek O et al.
Heliyon, 2024
Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.
Coetzer KC et al.
European Journal of Human Genetics : Ejhg, 2024
Presentation of Rare Phenotypes Associated with the FKBP10 Gene.
Merkuryeva ES et al.
Genes, 2024
A novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report.
Shang L et al.
Heliyon, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.
Pan Y et al.
Translational Pediatrics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Clinical features and molecular characterization of Chinese patients with FKBP10 variants.
Tan Z et al.
Molecular Genetics & Genomic Medicine, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.
Chen P et al.
Orphanet Journal of Rare Diseases, 2022
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Cohen A et al.
Bone, 2022
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
Yüksel Ülker A et al.
Calcified Tissue International, 2021
African genetic diversity and adaptation inform a precision medicine agenda.
Pereira L et al.
Nature Reviews. Genetics, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
New insights on the clinical variability of FKBP10 mutations.
Essawi OH et al.
European Journal of Medical Genetics, 2020
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation.
Chetty M et al.
Bdj Open, 2019
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta.
Zhang H et al.
International Journal of Molecular Medicine, 2018
Altered corneal biomechanical properties in children with osteogenesis imperfecta.
Lagrou LM et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2018
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J et al.
Bone, 2018
Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10.
Vorster A et al.
South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2017
Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
Alabdullatif MA et al.
Clinical Genetics, 2017
Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.
Xu XJ et al.
Journal of Human Genetics, 2017
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA et al.
Molecular Genetics & Genomic Medicine, 2017
Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.
Velasco HM et al.
The Application of Clinical Genetics, 2017
Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.
Barbirato C et al.
Genetics and Molecular Research : Gmr, 2016
Osteoblastic differentiation of bone marrow mesenchymal stromal cells in Bruck Syndrome.
Kaneto CM et al.
Bmc Medical Genetics, 2016
Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
Umair M et al.
Journal of Human Genetics, 2016
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
Duran I et al.
Human Molecular Genetics, 2015
Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.
Moravej H et al.
Endokrynologia Polska, 2015
Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.
Zhou P et al.
Plos One, 2014
Next-generation sequencing for disorders of low and high bone mineral density.
Sule G et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2013
New genes in bone development: what's new in osteogenesis imperfecta.
Marini JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA et al.
American Journal of Medical Genetics. Part A, 2013
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Schwarze U et al.
Human Molecular Genetics, 2013
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Barnes AM et al.
Human Mutation, 2012
A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.
Setijowati ED et al.
European Journal of Medical Genetics, 2012
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
Shaheen R et al.
American Journal of Medical Genetics. Part A, 2011