Olivier Vanakker
A5073151396- Dermatological and Skeletal Disorders
- Skin and Cellular Biology Research
- Cellular Mechanics and Interactions
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Congenital heart defects research
- Genomics and Rare Diseases
- Heterotopic Ossification and Related Conditions
- Autoimmune Bullous Skin Diseases
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Dupuytren's Contracture and Treatments
- Parathyroid Disorders and Treatments
- RNA modifications and cancer
- Inflammatory Myopathies and Dermatomyositis
- Protein Tyrosine Phosphatases
- Vitamin K Research Studies
- Cell Adhesion Molecules Research
- Genetic factors in colorectal cancer
- Bone Metabolism and Diseases
- Craniofacial Disorders and Treatments
- Carcinogens and Genotoxicity Assessment
- Cerebrovascular and genetic disorders
- RNA Research and Splicing
Ghent University Hospital
2016-2025
Ghent University
2013-2025
Universitair Ziekenhuis Brussel
2021
KU Leuven
2021
Hudson Institute
2018
John Wiley & Sons (United Kingdom)
2018
Moorfields Eye Hospital NHS Foundation Trust
2012
Fund for Scientific Research
2006-2009
Type V collagen mutations are associated with classic Ehlers-Danlos Syndrome (EDS), but it is unknown for which proportion they account and to what extent other genes involved. We analyzed COL5A1 COL5A2 in 126 patients a diagnosis or suspicion of EDS. In 93 patients, type defect was found, 73 were mutations, 13 seven null-alleles mutation unknown. The majority the generated null-allele, whereas one-third structural scattered throughout COL5A1. All mutations. Reduced availability appeared be...
<h3>Importance</h3> Mutations in the titin gene (<i>TTN</i>) cause a wide spectrum of genetic diseases. The interpretation numerous rare variants identified in<i>TTN</i>is difficult challenge given its large size. <h3>Objective</h3> To identify cohort patients with muscle disorders. <h3>Design, Setting, and Participants</h3> In this case series, 9 titinopathy 4 other possibly disease-causing in<i>TTN</i>were identified. Titin mutations were detected through targeted resequencing performed on...
Autosomal recessive cutis laxa type I (ARCL I) is characterized by generalized with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 have been implicated a similar phenotype. Studying FBLN4, FBLN5, and 12 families ARCL I, we found bi-allelic FBLN5 two probands, whereas nine probands harbored biallelic LTBP4. cause very phenotype associated severe emphysema, the absence of tortuosity aneurysms. Gastrointestinal...
Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder with involvement of the skin, retina, and cardiovascular system. Cardiovascular mainly characterized by mineralization fragmentation elastic fibers blood vessels premature atherosclerosis. We conducted ultrasound study to investigate phenotype propose recommendations for management patients PXE heterozygous ABCC6 mutation carriers.Thirty-two patients, 23 carriers, 28 healthy volunteers underwent cardiac...
Abstract Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants TARDBP , the gene encoding TDP-43, can cause ALS cluster C-terminal prion-like domain (PrLD), where they modulate liquid condensation aggregation properties of protein. also found rimmed vacuole myopathies, including sporadic inclusion body myositis, but myopathy-causing TDP-43 have not been reported. Using...
Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder characterized by ocular, cutaneous and cardiovascular manifestations. It caused mutations in the ABCC6 gene (chr. 16p13.1), encoding transmembrane transporter protein, substrate biological function of which are currently unknown. A comprehensive clinical molecular study 38 Belgian PXE probands 21 relatives (4 affected 17 carriers) was performed. An extensive evaluation protocol implemented with serial fundus, skin...
Abstract Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption osteoclasts. In 2000, we found that mutations in the TCIRG1 gene encoding for subunit of proton pump (V-ATPase) are responsible more than one-half ARO cases. Since then, five additional genes have been demonstrated to be involved pathogenesis disease, leaving approximately 25% cases could not associated with genotype. Very recently, mutation sorting nexin 10...
Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no phenotype emerged so far.We correlate clinical molecular data of 25 novel 23 previously reported patients FOXP1 defects. We evaluated activity by an vitro luciferase model assessed stability western blotting.Patients show ID, SLI, neuromotor delay (NMD) recurrent facial including a high broad...
While the transcription factor NEUROD2 has recently been associated with epilepsy, its precise role during nervous system development remains unclear. Using a multi-scale approach, we set out to understand how Neurod2 deletion affects of cerebral cortex in mice. In KO embryos, cortical projection neurons over-migrated, thereby altering final size and position layers. juvenile adults, spine density turnover were dysregulated apical but not basal compartments layer 5 neurons. Patch-clamp...
Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by calcified elastic fibers in cutaneous, ocular, and vascular tissues. PXE caused mutations ABCC6, which encodes protein of the ATP-driven organic anion transporter family. The inability this to secrete its substrate into circulation likely cause PXE. Vitamin K plays role regulation mineralization processes as co-factor carboxylation calcification inhibitors such Matrix Gla Protein (MGP). precursor or conjugated form has...