Publicaties
Assisted oocyte activation does not overcome recurrent embryo developmental problems Universiteit Gent
STUDY QUESTION Can recurrent embryo developmental problems after ICSI be overcome by assisted oocyte activation (AOA)? SUMMARY ANSWER AOA did not improve blastocyst formation in our patient cohort with recurrent embryo developmental problems after ICSI. WHAT IS KNOWN ALREADY The use of AOA to artificially induce calcium (Ca2+) rises by using Ca2+ ionophores (mainly calcimycin and ionomycin) has been reported as very effective in overcoming ...
Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos Universiteit Gent
Human germline gene correction by targeted nucleases holds great promise for reducing mutation transmission. However, recent studies have reported concerning observations in CRISPR-Cas9-targeted human embryos, including mosaicism and loss of heterozygosity (LOH). The latter has been associated with either gene conversion or (partial) chromosome loss events. In this study, we aimed to correct a heterozygous basepair substitution in PLCZ1, related ...
Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for Osteogenesis Imperfecta Universiteit Gent
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture Universiteit Gent
3-4 cases per 100,000 persons per year are estimated to suffer from thoracic aortic dissection (TAD). Weakening of the vessel wall of the thoracic aorta increases the risk for TAD and rupture, which associates with a high mortality rate. Current treatment options in thoracic aortic dissections (TAAD) are limited to a pharmacological reduction of hemodynamic stress and surgical repair at a critical diameter. Despite the availability of different ...
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture Universiteit Gent
With 3-4 cases per 100,000 person-years, thoracic aortic dissection (TAD) is a relatively rare but devastating disease that associates with a high mortality rate. Weakening of the vessel wall and progressive dilatation of the thoracic aorta may precede TAD, but often remains undetected. Treatment options are limited and consist of surgical repair at the critical diameter as there is currently no pharmacological intervention available. Despite ...
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture Universiteit Gent
3-4 cases per 100,000 persons per year are estimated to suffer from thoracic aortic dissection (TAD). Weakening of the vessel wall of the thoracic aorta increases the risk for TAD and rupture, which associates with a high mortality rate. Current treatment options are limited to a pharmacological reduction of hemodynamic stress and surgical repair at a critical diameter. Despite the availability of different mouse models for TAD, the underlying ...
Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis Universiteit Gent
Clinical variability in OI patients carrying an identical causal variant is frequently observed. This suggests that modifier genes contribute to the phenotypic severity through a network of interactions with the causative gene. Zebrafish is known to be a powerful model to study skeletal disorders . They are highly suitable to study intra-familial variability because of a high level of genomic variation, similarity to human, and because high ...
RRM2 enhances MYCN-driven neuroblastoma formation and acts as a synergistic target with CHK1 inhibition Universiteit Gent Vlaams Instituut voor Biotechnologie KU Leuven
High-risk neuroblastoma, a pediatric tumor originating from the sympathetic nervous system, has a low mutation load but highly recurrent somatic DNA copy number variants. Previously, segmental gains and/or amplifications allowed identification of drivers for neuroblastoma development. Using this approach, combined with gene dosage impact on expression and survival, we identified ribonucleotide reductase subunit M2 (RRM2) as a candidate ...
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA Universiteit Gent Vrije Universiteit Brussel
Congenital heart defects (CHD) are the most common congenital anomalies in liveborn children. In contrast to syndromic CHD (SCHD), the genetic basis of isolated CHD (ICHD) is complex, and the underlying pathogenic mechanisms appear intricate and are incompletely understood. Next to rare Mendelian conditions, somatic mosaicism or a complex multifactorial genetic architecture are assumed for most ICHD. We performed exome sequencing (ES) in 73 ...