A5067678008- RNA modifications and cancer
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Genetics, Bioinformatics, and Biomedical Research
- Radiomics and Machine Learning in Medical Imaging
- Lung Cancer Treatments and Mutations
- Ion channel regulation and function
- Ubiquitin and proteasome pathways
- Congenital heart defects research
- Cellular transport and secretion
- Bone Metabolism and Diseases
- AI in cancer detection
- Genetics and Physical Performance
- Connective tissue disorders research
- Erythrocyte Function and Pathophysiology
- Lung Cancer Diagnosis and Treatment
Ghent University Hospital
2023-2025
Ghent University
2022-2024
Antwerp University Hospital
2021
Heritable Fragile Bone Disorders (FBDs) encompass a spectrum of conditions, from widespread multifactorial to rare monogenic diseases, all characterized by an elevated risk fractures. The process validating causative genes and elucidating their pathogenic mechanisms remains daunting resource-intensive task. In this study, we evaluated the feasibility semi-high throughput zebrafish screening platform for rapid validation in vivo functional testing candidate disease-causing wide range...
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes. Six linked severe recessive osteogenesis imperfecta (OI) four associated with mineral density (BMD) genome-wide association studies were...
Phenotypic variability is common in human diseases, even when the same genes are affected. In this study, three zebrafish models of Osteogenesis Imperfecta (OI) with dominant glycine substitutions type I collagen (col1a1amh13/+, col1a1adc124/+, and col1a2mh15/+) were characterized for phenotypic severity variability, using a newly developed standardized scoring system. Comprehensive analyses vertebral columns these revealed histological ultrastructural differences that corresponded severity....
Genomic variants of uncertain significance (VUS) impede clinical decision-making. In this study, we use a knock-in strategy in zebrafish to evaluate the COL1A2 c.2123G>A VUS, identified 59-year-old female with recurrent fractures. Using prime editing, obtained different lines respectively harboring known pathogenic variant, or benign variant. Comprehensive skeletal phenotyping revealed no significant abnormalities modeling variant and while showed scoliosis vertebral column, fusions,...
Heritable Fragile Bone Disorders (FBDs) encompass a spectrum of conditions, from widespread multifactorial to rare monogenic diseases, all characterized by an elevated risk fractures. The process validating causative genes and elucidating their pathogenic mechanisms remains daunting resource-intensive task. In this study, we evaluated the feasibility semi-high throughput zebrafish screening platform for rapid validation in vivo functional testing candidate disease-causing wide range...
Rare monogenic disorders often exhibit significant phenotypic variability among individuals sharing identical genetic mutations. Bruck syndrome (BS), a prime example, is characterized by bone fragility and congenital contractures, although with pronounced family members. BS arises from recessive biallelic mutations in FKBP10 or PLOD2. FKBP65, the protein encoded FKBP10, collaborates LH2 enzyme (PLOD2) type I collagen telopeptide lysine hydroxylation, crucial for cross-linking. To identify...
Abstract Heritable Fragile Bone Disorders (FBDs) encompass a spectrum of conditions, from widespread multifactorial to rare monogenic diseases, all characterized by an elevated risk fractures. The process validating causative genes and elucidating their pathogenic mechanisms remains daunting resource-intensive task. In this study, we evaluated the feasibility semi-high throughput zebrafish screening platform for rapid validation in vivo functional testing candidate disease-causing wide range...
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes. Six linked severe recessive osteogenesis imperfecta (OI) four associated with mineral density (BMD) genome-wide association studies were...
SNARE proteins comprise a conserved protein family responsible for catalyzing membrane fusion during vesicle traffic. Syntaxin18 (STX18) is poorly characterized endoplasmic reticulum (ER)-resident t-SNARE. Recently, together with TANGO1 and SLY1, its involvement was shown in ER to Golgi transport of collagen II chondrogenesis. We report fetus severe osteochondrodysplasia whom we identified homozygous substitution the highly p.Arg10 Pro STX18. CRISPR/Cas9-mediated Stx18 deficiency zebrafish...