A5073014816- Connective tissue disorders research
- Bone and Dental Protein Studies
- Bone fractures and treatments
- Bone health and treatments
- Macrophage Migration Inhibitory Factor
- Protease and Inhibitor Mechanisms
- TGF-β signaling in diseases
- Bone Metabolism and Diseases
- Hip and Femur Fractures
- Bone health and osteoporosis research
- Delphi Technique in Research
- Prenatal Screening and Diagnostics
- Cell Adhesion Molecules Research
- Aortic Disease and Treatment Approaches
- Nutrition, Genetics, and Disease
- Aortic aneurysm repair treatments
- Mesenchymal stem cell research
- Health and Medical Research Impacts
- Reproductive Biology and Fertility
- Adolescent and Pediatric Healthcare
- Medical and Biological Sciences
- Renal and related cancers
- Molecular Biology Techniques and Applications
- Congenital Heart Disease Studies
- Hemophilia Treatment and Research
Vrije Universiteit Amsterdam
2023-2025
Amsterdam University Medical Centers
2022-2025
University of Tartu
2015-2025
Amsterdam UMC Location Vrije Universiteit Amsterdam
2024
GGD Amsterdam
2024
Competence Centre on Health Technologies (Estonia)
2021-2022
Tartu University Hospital
2020-2021
Centre Hospitalier Universitaire de Toulouse
2020-2021
University of Hong Kong
2020-2021
Children's National
2020-2021
Background: The genetics of osteogenesis imperfecta (OI) have not been studied in a Vietnamese population before.We performed mutational analysis the COL1A1 and COL1A2 genes 91 unrelated OI patients origin.We then systematically characterized mutation profiles these two which are most commonly related to OI. Methods: Genomic DNA was extracted from EDTA-preserved blood according standard high-salt extraction methods.Sequence pathogenic variant identification with Mutation Surveyor...
Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim current research was to identify mutational spectrum genes Estonian patients. small population size Estonia provides unique chance explore collagen I profile 100% families country. We performed analysis peripheral blood gDNA 30 unrelated patients using Sanger sequencing COL1A1 COL1A2 including all intron-exon junctions...
Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, spectrum OI genotypes may differ between populations, and there academic controversy around genotype-phenotype correlations. In current study, 94 Ukrainian families were interviewed. Clinical genealogical information was collected from spoken form, their phenotypes described. To...
Early-onset Marfan syndrome (eoMFS) is a severe and rare form of characterized by atrioventricular valve insufficiency developing before or shortly after birth. It unclear which factors (interventions and/or genotype) influence survival. Forty-one individuals with eoMFS fibrillin-1 gene (FBN1) variant in exon 24-32 (CRCh37) were included. At the last follow-up, 14/41 (34%) alive (8 months-18 years) 27/41 (66%) deceased. Median age death was 1 month 88% deaths occurred 5 months age. More past...
Abstract Background Osteogenesis Imperfecta (OI) is a genetic disorder also known as ‘brittle bone disease’. The clinical manifestation of OI shows wide variation. Therefore, care for patients with requires an interdisciplinary approach. effectiveness particular interventions and treatment protocols teams not clear due to non-standardized variation patient outcomes thus making the comparison outcome measures available in literature difficult. It only by agreeing on common, standard set...
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder that causes bone fragility due to pathogenic variants in genes responsible for the synthesis of type I collagen. Efforts classify high clinical variability OI led Sillence classification. However, this classification only partially takes into account extraskeletal manifestations and genetic variability. Little known about relation between phenotype as yet. The aim study was create clinically relevant stratification cohort...
Osteogenesis imperfecta (OI) is a rare genetic disorder also known as "brittle bone disease." Around 90% of patients with OI harbor loss-of-function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for collagen type I α1 α2 chains. Collagen-related forms are classified Sillence types I-IV. phenotype expression ranges from mild to lethal. The current study aims evaluate associations between interfamilial intrafamilial phenotypic variability genotype...
Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes might hide in pathogenic variants 20 different genes. Often clinical types mimic each other. This sometimes makes it impossible to identify type clinically, which can be risk for patients. Up 90% I–IV are caused by COL1A1/2 V c.-14C > T variant 5′UTR IFITM5 gene and characterized hyperplastic callus formation ossification interosseous membranes. In current...
Abstract Background Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between genotypes and phenotypes of de novo inherited collagen‐related OI were investigated. Methods A comparative analysis was performed 146 unrelated collagen I cases from Estonia, Ukraine, Vietnam. Mutational subjects all available parents with Sanger sequencing. Results showed that 56.16% caused by pathogenic variants. The proportion types OI1, OI4, OI3 among...
Introduction Osteogenesis Imperfecta is a rare genetic connective tissue disorder, characterized by skeletal dysplasia and fragile bones. Currently only two mouse models have been reported for haploinsufficient (HI) mild (OI); the Col1a1 +/Mov13 (Mov13) +/-365 model. The Mov13 mice were created random insertion of Mouse Moloney leukemia virus in first intron gene, preventing initiation transcription. Since development almost four decades ago its basic phenotypic characterization 90s, there...
Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased fragility, blue-gray eye sclera. OI often results from missense mutations in one the conserved glycine residues present Gly-X-Y sequence repeats triple helical region collagen type I α chain, which is encoded COL1A1 gene. The aim study to describe phenotype II patient novel mutation, causing current phenotype. We report an...
Osteogenesis imperfecta (OI) is a rare genetic disorder in which the patients suffer from numerous fractures, skeletal deformities and bluish sclera. The ranges mild form to severe lethal cases. main objective of this pilot study was compare blood transcriptional landscape OI with COL1A1 pathogenic variants their healthy relatives, order find out different gene expression dysregulated molecular pathways OI.We performed RNA sequencing analysis whole seven individuals affected severity five...
(1) Mesenchymal stem cells (MSCs) are a valuable cell model to study the bone pathology of Osteogenesis Imperfecta (OI), rare genetic collagen-related disorder characterized by fragility and skeletal dysplasia. We aimed generate novel OI induced mesenchymal (iMSC) from pluripotent (iPSCs) derived human dermal fibroblasts. For first time, iMSCs generation was based on an intermediate neural crest (iNCC) stage. (2) Skin fibroblasts healthy individuals patients were reprogrammed into iPSCs...
Osteoporosis is a disorder associated with bone tissue reorganization, mass, and mineral density. can severely affect postmenopausal women, causing fragility osteoporotic fractures. The aim of the current study was to compare blood mRNA profiles women without osteoporosis, finding different gene expressions thus targets for future osteoporosis biomarker studies. Our consisted transcriptome analysis whole serum from 12 elderly female patients non-osteoporotic controls. performed RNA...
Pathogenic variants in SPARC cause a rare autosomal recessive form of osteogenesis imperfecta (OI), classified as OI type XVII, which was first reported 2015. Only six patient cases with this specific have been to date. The protein plays crucial role the calcification collagen bone, synthesis extracellular matrix, and regulation cell shape. In case report, we describe phenotype two patients SPARC-related OI, including novel pathogenic gene. Targeted Next Generation Sequencing revealed new...
Osteogenesis imperfecta (OI) is a syndromic disorder of bone fragility with high variation in its clinical presentation. Equally variable molecular aetiology; recessive forms are caused by approximately 20 different genes, many which directly implicated collagen type I biosynthesis. Biallelic variants prolyl 3-hydroxylase 1 (P3H1) known to cause severe OI affecting the competence 3-hydroxylation—cartilage associated protein—peptidyl-prolyl cis-trans isomerase B (P3H1-CRTAP-CyPB) complex,...
Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on fetal heart. This retrospective case series investigates cardiac pathology in type II fetuses, aiming to address this gap. Methods: Medical records and autopsy reports 6 genetically confirmed cases were examined. Fetuses had pathogenic variants COL1A1 or PPIB, inducing structural defects...