Pascale Hilbert
A5016348712- Renal and related cancers
- Nuclear Structure and Function
- Cell Adhesion Molecules Research
- RNA Research and Splicing
- Renal Diseases and Glomerulopathies
- Genomic variations and chromosomal abnormalities
- BRCA gene mutations in cancer
- Genetic and Kidney Cyst Diseases
- RNA and protein synthesis mechanisms
- Platelet Disorders and Treatments
- Genetic Mapping and Diversity in Plants and Animals
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Adipose Tissue and Metabolism
- Connexins and lens biology
- Erythrocyte Function and Pathophysiology
- Identification and Quantification in Food
- Biomedical Research and Pathophysiology
- Complement system in diseases
- Genetic Syndromes and Imprinting
- Hearing, Cochlea, Tinnitus, Genetics
- Genetic and phenotypic traits in livestock
- Cell death mechanisms and regulation
- Adenosine and Purinergic Signaling
Institute of Pathology and Genetics
2015-2024
Rega Institute for Medical Research
2024
KU Leuven
2024
Children's Cancer Center
2012
Baylor College of Medicine
2012
Grand Charleroi Hospital
2012
Cliniques Universitaires Saint-Luc
2012
Institut Claudius Regaud
2012
Network of the Universities from the Capitals of Europe
2012
Institut de Cancérologie de l'Ouest
2012
Abstract One hundred and seventy-four rat loci which contain short tandem repeat sequences were extracted from the GenBank or EMBL data bases used to define primers for amplification by polymerase chain reaction (PCR) of microsatellite regions, creating PCR-formatted sequence-tagged sites (STMSs). thirty-four STMSs 118 loci, including 6 randomly cloned STMSs, characterized: (i) PCR-analyzed assigned specific chromosomes using a panel x mouse somatic cell hybrid clones. (ii) Length variation...
Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present the glomerular basement membrane. COL4A5 are major X-linked form of disease, and COL4A3 COL4A4 autosomal recessive dominant forms (thought to be involved 15% 1%–5% families, respectively) benign familial hematuria. Mutation screening these three large time-consuming expensive. Here, we carried out a combination multiplex PCR, amplicon quantification, next generation...
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history hematuria or kidney function impairment. Alport syndrome experts now advocate genetic even when heterozygous COL4A3 COL4A4 suspected, and cascade their first-degree members because risk impaired function. The recommend too that heterozygotes do not act as donors. Testing in COL4A3–COL4A5 genes should also be performed proteinuria...
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended indications for screening pathogenic variants in COL4A5, COL4A3 and COL4A4 genes beyond classical phenotype (haematuria, renal failure; family history haematuria or failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis end-stage kidney failure without an obvious cause. refined ACMG criteria variant...
Alport syndrome results from mutations in the COL4A5 (X-linked) or COL4A3/COL4A4 (recessive) genes. This study examined 754 previously- unpublished variants these genes individuals referred for genetic testing 12 accredited diagnostic laboratories worldwide, addition to all published COL4A5, COL4A3 and COL4A4 LOVD databases. It also determined genotype-phenotype correlations where clinical data were available. Individuals was suspected clinically on biopsy (renal failure, hearing loss,...
Alport syndrome is the commonest inherited kidney disease and nearly half pathogenic variants in COL4A3-COL4A5 genes that cause result Gly substitutions. This study examined molecular characteristics of substitutions determine severity clinical features. Pathogenic COL4A5 affecting Leiden Open Variation Database males with X-linked were correlated age at failure (n = 157) hearing loss diagnosis 80). Heterozygous COL4A3 COL4A4 304) autosomal dominant risk haematuria UK 100,000 Genomes...
Background The identification of complement defects as major drivers primary atypical hemolytic uremic syndrome (HUS) has transformed the landscape thrombotic microangiopathies (TMAs), leading to development targeted therapies and better patient outcomes. By contrast, little is known about presentation, genetics, outcomes TMA associated with specific diseases or conditions, also referred secondary TMA. Methods In this study, we assessed relative incidence, clinical genetic spectra, long-term...
Objectives: The SA-gene shows markedly higher levels of expression in the kidneys spontaneously hypertensive rats (SHR) than their non-hypertensive reference strain, Wistar-Kyoto (WKY) rat. Based on important role kidney blood pressure regulation, possibility has been raised that this gene, translational product which remains unknown, may participate pathogenesis primary hypertension. present study was conducted to test hypothesis and ascertain chromosomal localization SA-gene. Design: A...
Coronavirus Disease 2019 (COVID-19) vaccination has resulted in excellent protection against fatal disease, including older adults. However, risk factors for post-vaccination COVID-19 are largely unknown. We comprehensively studied three large nursing home outbreaks (20-35% cases among residents) by combining severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) aerosol monitoring, whole-genome phylogenetic analysis and immunovirological profiling of nasal mucosa digital nCounter...
Expert curation and complete collection of mutations in genes that affect human health is essential for proper genetic healthcare research. given by the curators gene-specific mutation databases or locus-specific (LSDBs). While there are over 700 such databases, they vary their content, completeness, time available curation, expertise curator. Curation LSDBs have been discussed, written about, protocols provided 10 years, but no formal recommendations ideal form these entities. This work...
Triple Negative Breast Cancers (TNBC) represent about 12% to 20% of all breast cancers (BC) and have a worse outcome compared other BC subtypes. TNBC often show deficiency in DNA double-strand break repair mechanisms. This is generally related the inactivation enzymatic complex involving BRCA1 caused either by genetic mutations, epigenetic modifications or post-transcriptional regulations. The identification new molecular biomarkers that would allow rapid presenting could be useful select...
Alport syndrome (AS) is caused by mutations in α3/α4/α5 (IV) collagen genes, the severity of which determine progression AS. Posttransplantation outcome good, although anti-glomerular basement membrane (anti-GBM) glomerulonephritis occurs 3% to 5% recipients, clustering patients with a severe mutation. We assessed whether underlying AS mutation affects graft and after transplantation, including occurrence anti-GBM nephritis.We included 73 an identified (COL4A5, 57 patients; COL4A3, 9 COL4A4,...
Myotubular myopathy (MIM#310400), the X-linked form of Centronuclear (CNM) is mainly characterized by neonatal hypotonia and inability to maintain unassisted respiration. The MTM1 gene, responsible for this disease, encodes myotubularin – a lipidic phosphatase involved in vesicle trafficking regulation maturation. Recently, it was shown that interacts with desmin, being major regulator intermediate filaments. We report development locus-specific database using Leiden Open Variation software...
Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result CGL type 1 milder manifestations, whereas BSCL2 variants cause 2 more severe features. Muscle hypertrophy caused by lack of adipose tissue present early life patients. Our aim was to investigate 10 patients from 7 different countries and report genotype-phenotype relationships. Genetic analysis identified disease-causing (five patients) patients), including three...
We report the case of a 20 year‐old caucasian woman who presented primary subcutaneous panniculitis‐like T‐cell lymphoma (SPTCL) as an invasive tumor chest wall. Herein, neoplastic cells were found to express CD3+CD8+ phenotype but also displayed variably natural killer (NK)‐associated antigens CD56 and CD57 well granzyme B. On cytological examination, these showed large granular lymphocyte (LGL)‐like morphology with presence azurophilic granules in their cytoplasm. Electron dense membrane...
Abstract Since the onset of coronavirus disease (COVID-19) pandemic in Belgium, UZ/KU Leuven has played a crucial role as National Reference Centre (NRC) for respiratory pathogens, to be first Belgian laboratory develop and implement developed diagnostic assays SARS-CoV-2 (severe acute syndrome 2) later assess quality commercial kits. To meet growing demand decentralised testing, both clinical laboratories government-supported high-throughput platforms were gradually deployed across Belgium....