A5090348177- Genetics and Neurodevelopmental Disorders
- Craniofacial Disorders and Treatments
- Cleft Lip and Palate Research
- SARS-CoV-2 detection and testing
- Biosensors and Analytical Detection
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- Hedgehog Signaling Pathway Studies
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Advanced biosensing and bioanalysis techniques
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Atherosclerosis and Cardiovascular Diseases
- Esophageal Cancer Research and Treatment
- Urinary and Genital Oncology Studies
- Genetic Syndromes and Imprinting
- Tryptophan and brain disorders
- Interdisciplinary Research and Collaboration
- Nuclear Receptors and Signaling
- Ion channel regulation and function
- Medical History and Research
- Gastrointestinal Tumor Research and Treatment
- Cytokine Signaling Pathways and Interactions
- Neonatal Respiratory Health Research
University Hospital Bonn
2019-2024
University of Bonn
2021-2024
Austrian Academy of Sciences
2019
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
2019
Institute of Molecular Biotechnology
2019
University of British Columbia
2019
University of Lübeck
2014-2018
German Centre for Cardiovascular Research
2017
Deutsches Herzzentrum München
2017
Technical University of Munich
2017
Background: A chromosomal locus at 4q32.1 has been genome-wide significantly associated with coronary artery disease risk. The encompasses GUCY1A3 , which encodes the α 1 subunit of soluble guanylyl cyclase (sGC), a key enzyme in nitric oxide/cGMP signaling pathway. mechanism linking common variants this region risk is not known. Methods: Gene expression and protein were analyzed quantitative polymerase chain reaction immunoblotting, respectively. Putative allele-specific transcription...
Summary The ongoing SARS-CoV-2 pandemic has already caused devastating losses. Exponential spread can be slowed by social distancing and population-wide isolation measures, but those place a tremendous burden on society, and, once lifted, exponential re-emerge. Regular population-scale testing, combined with contact tracing case isolation, should help break the cycle of transmission, current detection strategies are not capable such large-scale processing. Here we present protocol for...
Frequent testing of large population groups combined with contact tracing and isolation measures will be crucial for containing Coronavirus Disease 2019 outbreaks. Here we present LAMP-Seq, a modified, highly scalable reverse transcription loop-mediated isothermal amplification (RT-LAMP) method. Unpurified biosamples are barcoded amplified in single heat step, pooled products analyzed en masse by sequencing. Using commercial reagents, LAMP-Seq has limit detection ~2.2 molecules per µl at 95%...
<h3>Background</h3> The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack distinctive phenotypic features means that criteria are often required for accurate diagnostic classification. We aimed to identify causative lesions in two families which eight affected individuals displayed variable learning disability, spasticity abnormal gait. <h3>Methods</h3> Autosomal recessive inheritance was suggested by consanguinity one family sibling recurrences with normal...
We aim to characterize the causality and molecular functional underpinnings of HACE1 deficiency in a mouse model recessive neurodevelopmental syndrome called spastic paraplegia psychomotor retardation with or without seizures (SPPRS).By exome sequencing, we identified 2 novel homozygous truncating mutations 3 patients from families, p.Q209* p.R332*. Furthermore, performed detailed phenotypic analyses Hace1 knock-out (KO) mice SPPRS patient fibroblasts.We show that KO display many clinical...
Thanatos-associated protein domain containing, apoptosis-associated 1 (THAP1), the gene mutated in DYT6 dystonia, encodes a transcription factor. While N-terminal THAP allows for specific DNA-binding, functional relevance of other regions is largely unknown. The C-terminus contains 4-amino-acid-spanning host cell factor (HCFC1)-binding (HBM) that mediates interaction with HCFC1. Interestingly, three mutations affecting HBM (p.N136S, p.N136K, p.Y137C) have been reported dystonia patients. We...
Nonsyndromic cleft lip with or without palate (nsCL/P) ranks among the most common human birth defects and has a multifactorial etiology. Human neural crest cells (hNCC) make substantial contribution to formation of facial bone cartilage are key cell type in terms nsCL/P Based on increasing evidence for role noncoding regulatory mechanisms nsCL/P, we investigated hNCC-expressed microRNAs (miRNA) development. First, conducted systematic analysis miRNAs expressed human-induced pluripotent stem...
Simpson–Golabi–Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors. SGBS X‐linked recessive caused deletions, duplications, point mutations in GPC3 , encoding a membrane associated cell surface heparan sulfate proteoglycan named glypican 3. plays essential roles the regulation growth signaling division. Here, we...
BackgroundSince its emergence in December 2019, over 700 million people worldwide have been infected with SARS-CoV-2 up to May 2024. While early rollout of mRNA vaccines against COVID-19 has saved many lives, there was increasing immune escape new virus variants. Longitudinal monitoring population-wide antibody responses from regular sample collection irrespective symptoms provides representative data on infection and seroconversion/seroreversion rates.AimTo examine adaptive cellular a...
Abstract Isl1 has been described as an embryonic master control gene expressed in the pericloacal mesenchyme. Deletion of from genital mesenchyme mice leads to ectopic urethral opening and epispadias-like phenotype. Using genome wide association methods, we identified ISL1 key susceptibility for classic bladder exstrophy (CBE), comprising epispadias urinary bladder. The most significant marker (rs6874700) our recent GWAS meta-analysis achieved a p value 1.48 × 10 -24 within region. In silico...
Beim Barrett-Ösophagus (BÖ) und ösophagealen Adenokarziom (ÖA) handelt es sich um multifaktorielle Erkrankungen mit sowohl genetischen als auch Umwelt-Risikofaktoren. Beide Krankheiten weisen steigende Prävalenzraten in der westlichen Bevölkerung auf. In einer Metaanalyse von vier genomweiten Assoziationsstudien (GWAS) konnte 14 genetische Risikoloci identifiziert werden. Das Gen SLC9A3 am Risikolocus 5p15 wurde integrativen Analyse GWAS-Daten eQTL-Daten (expression quantitative trait loci)...
Non-syndromic cleft lip with/without palate (nsCL/P) is a frequent congenital malformation with multifactorial etiology. While recent genome-wide association studies (GWAS) have identified several nsCL/P risk loci, the functional effects of associated non-coding variants are largely unknown. Furthermore, additional loci remain undetected due to lack power. As genetic might alter binding transcription factors (TF), we here hypothesized that integration data from TF sites, expression analyses...