A5031728150- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Phagocytosis and Immune Regulation
- RNA regulation and disease
- Muscle Physiology and Disorders
- Endoplasmic Reticulum Stress and Disease
- Genomics and Rare Diseases
- Neurological and metabolic disorders
- Protein Degradation and Inhibitors
- Muscle and Compartmental Disorders
- Cancer Mechanisms and Therapy
- Sphingolipid Metabolism and Signaling
- Gas Sensing Nanomaterials and Sensors
- Aortic aneurysm repair treatments
- Chromatin Remodeling and Cancer
- Neurogenetic and Muscular Disorders Research
- ZnO doping and properties
- Cardiovascular Effects of Exercise
- Neurological disorders and treatments
- RNA and protein synthesis mechanisms
- Copper-based nanomaterials and applications
- Galectins and Cancer Biology
- RNA modifications and cancer
- Calpain Protease Function and Regulation
- Botulinum Toxin and Related Neurological Disorders
University of Zurich
2023-2025
University of Würzburg
2017-2021
National Technical University of Athens
2009
Abstract Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding the genetic contribution to dystonia, we (re)analyzed 2,874 whole-exome sequencing (WES), 564 whole-genome (WGS), as well 80 fibroblast-derived proteomics datasets,...
Abstract The underlying genetic mechanisms and early pathological events of children with primary cardiomyopathy (CMP) are insufficiently characterized. In this study, we aimed to characterize the mutational spectrum CMP in a large cohort patients ≤18 years referred tertiary center. Eighty unrelated index pediatric underwent testing panel‐based next‐generation sequencing approach 89 genes. At least one pathogenic or probably variant was identified 30/80 (38%) patients. all subgroups, carried...
Dominant mutations in the MYH7 and MYBPC3 genes are common causes of inherited cardiomyopathies, which often demonstrate variable phenotypic expression incomplete penetrance across family members. Biallelic inheritance is rare but allows gaining insights into genetic mode action single variants. Here, we present three cases carrying a loss-of-function (LoF) variant compound heterozygous state with missense either or leading to severe cardiomyopathy left ventricular noncompaction. Most...
Abstract Striated muscle needs to maintain cellular homeostasis in adaptation increases physiological and metabolic demands. Failure do so can result rhabdomyolysis. The identification of novel genetic conditions associated with rhabdomyolysis helps shed light on hitherto unrecognized homeostatic mechanisms. Here we report seven individuals six families from different ethnic backgrounds biallelic variants MLIP, which encodes the muscular lamin A/C-interacting protein, MLIP. Patients...
Sphingolipids (SL) represent a structurally diverse class of lipids that are central to cellular physiology and neuronal development function. Defects in the sphingolipid metabolism typically associated with nervous system disorders. The C4-dihydroceramide desaturase (DEGS1) catalyzes conversion dihydroceramide ceramide, final step SL de-novo synthesis. Loss function mutations DEGS1 cause hypomyelinating leukodystrophy, which is increased plasma dihydrosphingolipids (dhSL) formation an...
ZnO was synthesized by the hydrothermal method using proper aqueous solutions of ZnCl2 and NaOH, as main raw materials, corresponding to molar ratio Zn2+ : OH- = 1 20 (solution ‘A’), a proportion water solvent, ethanol (EtOH) non solvent polyethylene glycol (PEG) nonionic surfactant ‘B’). The reaction takes place in an autoclave at 200 °C for defined period time (1-20 h). solid products received after centrifugation, washing drying were characterized X-ray diffraction (XRD) Scanning Electron...
Inherited cardiomyopathies are characterized by clinical and genetic heterogeneity that challenge diagnostics. In this study, we examined the diagnostic benefit of exome data compared to targeted gene panel analyses, propose new candidate genes. We performed sequencing in a cohort 61 consecutive patients with diagnosis cardiomyopathy or primary arrhythmia, analyzed following stepwise approach. Overall, 64% patients, variant interest (VOI) was detected. The detection rate main sub-cohort...
To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported carried de novo variants presumed dominant negative effect, which localized in PHD1/PHD2 domains of DPF2. Here we report on familial case 7. The index patient presented during 1st year life failure to thrive and ectodermal anomalies. genetic analysis using whole exome sequencing showed a likely pathogenic missense variant PHD1 region. family that mother as...
Background/Purpose: The KCNH1 gene encodes a voltage-gated potassium channel, which is expressed in the central nervous system and involved regulation of neuronal excitability neurotransmitter release. has further been localized to primary cilium shown be cell cycle control proliferation, suggesting that cilia dysfunction plays role phenotype KCNH1-related neurodevelopmental disorders. Heterozygous variants have associated with syndromic disorders presenting intellectual disability epilepsy.
Hereditare Kardiomyopathien sind durch klinische und genetische Heterogenitat gekennzeichnet, welche die Kardiogenetik vor Herausforderungen stellt. In dieser Arbeit wurden manche angegangen, indem anhand einer Kohorte von 61 Patienten mit Kardiomyopathie bzw. primarer Arrhythmie eine Exom-Diagnostik anschliesender stufenweiser Datenanalyse vorgenommen wurde. Ein Ziel der war, aktuellen diagnostischen Detektionsraten zu prufen sowie bewerten, ob erweiterte im Vergleich zur ublichen...