A5006966312- Endometrial and Cervical Cancer Treatments
- Cancer-related molecular mechanisms research
- interferon and immune responses
- Glaucoma and retinal disorders
- RNA Research and Splicing
- Molecular Biology Techniques and Applications
- Estrogen and related hormone effects
- Retinal and Macular Surgery
- Cell Adhesion Molecules Research
- Ovarian cancer diagnosis and treatment
- Immunodeficiency and Autoimmune Disorders
- Intraocular Surgery and Lenses
- Ubiquitin and proteasome pathways
- Retinal Diseases and Treatments
- Ocular Oncology and Treatments
- Respiratory viral infections research
- Circular RNAs in diseases
- Histone Deacetylase Inhibitors Research
- Intraoperative Neuromonitoring and Anesthetic Effects
- Congenital Diaphragmatic Hernia Studies
- Curcumin's Biomedical Applications
- Glycosylation and Glycoproteins Research
- Biomedical Research and Pathophysiology
- Optical Imaging and Spectroscopy Techniques
- Complement system in diseases
KU Leuven
2012-2022
Rockefeller University
2022
VIB-KU Leuven Center for Cancer Biology
2015-2017
Universitair Ziekenhuis Leuven
2014-2016
MDM4 is a promising target for cancer therapy, as it undetectable in most normal adult tissues but often upregulated cells to dampen p53 tumor-suppressor function. The mechanisms that underlie upregulation are largely unknown. Here, we have shown this key oncogenic event mainly depends on specific alternative splicing switch. We determined while nonsense-mediated, decay-targeted isoform of (MDM4-S) produced result exon 6 skipping, enhanced inclusion leads expression full-length large number...
Autosomal recessive IRF7 deficiency was previously reported in three patients with single critical influenza or COVID-19 pneumonia episodes. The patients' fibroblasts and plasmacytoid dendritic cells produced no detectable type I III IFNs, except IFN-β. Having discovered four new patients, we describe the genetic, immunological, clinical features of seven IRF7-deficient from six families five ancestries. Five were homozygous two compound heterozygous for variants. Patients typically had one...
Mutations in the N-terminal WD40 domain of coatomer protein complex subunit α (COPA) cause a type I interferonopathy, typically characterized by alveolar hemorrhage, arthritis and nephritis. We described three heterozygous mutations C-terminal (CTD) COPA (p.C1013S, p.R1058C p.R1142X) six children from unrelated families with similar syndrome autoinflammation autoimmunity. showed that these CTD disrupt integrity function coat (COPI). In COPAR1142X COPAR1058C fibroblasts we demonstrated COPI...
Purpose: Molecular classification of endometrial cancer identified distinct molecular subgroups. However, the largest subset cancers remains poorly characterized and is referred to as "nonspecific profile" (NSMP) subgroup. Here, we aimed at refining this subgroup by profiling somatic copy-number aberrations (SCNAs).Experimental Design: SCNAs were analyzed in 141 using whole-genome SNP arrays pooled with 361 from The Cancer Genome Atlas. Genomic Identification Significant Targets (GISTIC)...
// Renier Heijkants 1 , Karen Willekens 2, 3 Mark Schoonderwoerd 4 Amina Teunisse Maaike Nieveen Enrico Radaelli 5 Luuk Hawinkels Jean-Christophe Marine and Aart Jochemsen Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands 2 Laboratory for Cancer VIB Center Leuven, Belgium Oncology, KU Gastroenterology-Hepatology, Mouse Histopathology Core Facility, the Biology Disease, Correspondence to: Jochemsen, email: A.G.Jochemsen@lumc.nl Keywords:...
Summary The ocular pulse amplitude (OPA) measured by dynamic contour tonometry is one of the vascular parameters often used in glaucoma research. Probably measuring pressure wave caused shifting volume blood inside eye accordance to cardiac cycle, this measurement gives information about extra‐ as well intraocular hemodynamics. Leuven Eye Study (LES) largest studies investigating flow combining several non‐invasive investigations like color Doppler imaging, enhanced depth imaging optical...
NFKB1 haploinsufficiengcy was first described in 2015 three families with common variable immunodeficiency (CVID), presenting heterogeneously symptoms of increased infectious susceptibility, skin lesions, malignant lymphoproliferation and autoimmunity. The mutations all led to a rapid degradation the mutant protein, resulting p50 haploinsufficient state. Since then, more than 50 other have been reported, located throughout different domains majority situated N-terminal Rel homology domain...
The complement system is an essential part of our innate immune system. Three enzymatic activation pathways are described, all converging into a common terminal pathway which causes lysis the target cell. Late deficiencies (LCDs) typically diagnosed in children or adolescents with invasive meningococcal disease (IMD). However, IMD can also be first manifestation adulthood and should prompt for evaluation LCD. We report case young adult who was found to have LCD, caused by compound...
Purpose Vitreomacular adhesion can lead to vitreomacular traction (VMT) and macular hole (MH) formation. Intravitreal ocriplasmin provides a non-surgical solution release VMT with or without hole. A series of 37 patients treated is presented. Since was used in non-reimbursed setting, the injection only recommended when high success chance anticipated (e.g. excluding concomitant epiretinal membrane). Methods An observational trial conducted on +/- MH minimal follow up time 28 days. Patients...
Abstract Transcriptional upregulation of a variety signaling genes is key feature PLAG1-induced tumorigenesis. The PLAG1 gene mainly expressed during embryogenesis and mobilization its oncogenic potential in human tumors results from genetic aberrations. capacity the was initially demonstrated by various standard experimental approaches vitro. further generation versatile tumor mouse model system with Cre-mediated expression activation gene. In previous studies, it that PLAG1-encoded protein...
Purpose During posterior vitreous detachment (PVD) the hyaloid remains, for a certain period, attached to optic disc. It can exert traction with development of nerve head hemorrhages (ONHH). ONHH are known be associated glaucomatous progression and retinal fiber layer (RNFL) defects. Therefore this study aims at investigating relationship between PVD formation in open angle glaucoma patients. Methods Patients presenting an ONHH, from November 2014 on, were included. They underwent...
Purpose The extent of activity an intravitreal injected drug is linked to its dispersion within the vitreous body. Researchers have been trying visualize solutions using Indian ink or fluorescein, either with subsequent dissection endoillumination, both invasive methods that could influence pattern. Therefore, this pilot study aims at investigating and identifying best minimal imaging method for visualizing solution. Methods To determine optimal concentration, a series 5 enucleated porcine...
Purpose During posterior vitreous detachment (PVD) the hyaloid remains, for a certain period, attached to pole. At macula, vitreomacular interface and its associated disease has been studied extensively. The opposite is true vitreopapillary interface, especially in glaucoma patients. As affects shape cupping of optic nerve head, this study aims investigate possible influence traction on disc. Methods VPI (NCT02290795) cross‐sectional prospective including healthy subjects A subset patients...
Purpose Glaucoma patients are known to have an underlying vascular dysfunction and General anesthesia (GA) significantly decreases blood pressure, which might decrease ocular perfusion. This study was conducted investigate the effects of GA on ophthalmic flow velocities pressure. Methods Prospective, case-control study. were scheduled for trabeculectomy or drainage device implantation; non-glaucomatous undergoing vitrectomy macular hole epiretinal membrane peeling recruited as control...
Purpose Glaucoma is known to be associated with vascular dysfunction. However, integrating this knowledge in the clinical setting has been limited, considering majority of oriented studies have either underpowered or only addressed a small segment parameters strictly selected patients. The Leuven Eye Study aims at bridging gap by prospectively collecting largest amount data large real-life glaucoma clinic setting. Methods Prospective, cross-sectional, case–control hospital-based study....
<p>Significantly amplified and deleted regions (focal whole-arm) of the SCNA clusters.</p>
<p>Overexpression of MDM4 in 1q32.1 normal EC cell lines.</p>
<p>PSI index to associate 1q32.1 amplification with MDM4fl protein expression in NSMP ECs from the TCGA dataset RNASeq data available (n=90).</p>
<p>Consensus clustering of significant amplified and deleted regions for all samples.</p>
<p>PSI index to associate 1q32.1 amplification with MDM4fl protein expression in NSMP ECs from the TCGA dataset RNASeq data available (n=90).</p>
<p>Overexpression of MDM4 in 1q32.1 normal EC cell lines.</p>