A5039272140- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Cell Adhesion Molecules Research
- Metabolism and Genetic Disorders
- Ubiquitin and proteasome pathways
- Cancer-related gene regulation
- Amino Acid Enzymes and Metabolism
- CRISPR and Genetic Engineering
- RNA Research and Splicing
- Plant biochemistry and biosynthesis
- Lysosomal Storage Disorders Research
- Cholesterol and Lipid Metabolism
- Hippo pathway signaling and YAP/TAZ
- Neonatal Health and Biochemistry
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Diet and metabolism studies
- Retinal Development and Disorders
- RNA and protein synthesis mechanisms
- Prenatal Screening and Diagnostics
- Adenosine and Purinergic Signaling
- interferon and immune responses
- Congenital heart defects research
- Cellular Mechanics and Interactions
Charité - Universitätsmedizin Berlin
2015-2021
Max Planck Institute for Molecular Genetics
2015-2021
Radboud University Nijmegen
2017-2020
Radboud University Medical Center
2017-2020
Boehringer Ingelheim (Germany)
2019
Structural variations (SVs) contribute to the variability of our genome and are often associated with disease. Their study in model systems was hampered until now by labor-intensive genetic targeting procedures multiple mouse crossing steps. Here we present use CRISPR/Cas for fast (10 weeks) efficient generation SVs mice. We specifically produced deletions, inversions, also duplications at six different genomic loci ranging from 1.1 kb 1.6 Mb efficiencies up 42%. After PCR-based selection,...
Abstract Fin development and regeneration are complex biological processes that highly relevant in teleost fish. They share genetic factors, signaling pathways cellular properties to coordinate formation of regularly shaped extremities. Especially correct tissue structure defined by extracellular matrix (ECM) is essential. Gene expression protein localization studies demonstrated fndc3a ( fibronectin domain containing 3a ) both developing regenerating caudal fins zebrafish Danio rerio ). We...
Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between homozygous variant this macular dystrophy is described here.To describe an autosomal recessive recurrent CLN5.This cohort study took place at national referral center had follow-up duration ranging 1 years. All patients who were identified carry specific missense CLN5, among...
Summary statement We investigated potential functions of Fndc3a during caudal fin development and regeneration in zebrafish. Reduced function interferes with correct epidermal cells structure implies a role vertebrate extremity development. Abstract Inherited genetic alterations are often found to be disease-causing factors patient phenotypes. To unravel the molecular consequences newly identified functional investigations vivo eminent. FNDC3A (Fibronectin Domain Containing Protein 3A;...
Abstract The ALF transcription factor paralogs, AFF1, AFF2, AFF3 and AFF4 , are components of the transcriptional super elongation complex that regulates expression genes involved in neurogenesis development. We describe a new autosomal dominant disorder associated with de novo missense variants degron AFF3, nine amino acid sequence important for its degradation. Consistent causative role variants, mutated proteins show reduced clearance. Ten affected individuals were identified, present...
Niemann-Pick C disease (NP-C) is an ultra-rare, autosomal recessive, neurovisceral lysosomal lipid storage disorder (LSD) with impaired intracellular trafficking, and estimated incidence of approximately 1:/90.000 live births [Wassif CA et al. Genet Med 2016; 18(1): 41–48]. Disease severity in most patients dependent on the degree neurological involvement, but abnormalities are typically preceded by systemic signs (i.e., cholestatic jaundice neonatal period or isolated spleno-...