Lucie Sedláčková
A5030571201- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Heat shock proteins research
- Genomic variations and chromosomal abnormalities
- thermodynamics and calorimetric analyses
- Epilepsy research and treatment
- Toxin Mechanisms and Immunotoxins
- Hereditary Neurological Disorders
- Mitochondrial Function and Pathology
- Ion channel regulation and function
- Cellular transport and secretion
- Metabolism and Genetic Disorders
- Education, Psychology, and Social Research
- Skin and Cellular Biology Research
- Cardiac electrophysiology and arrhythmias
- RNA modifications and cancer
- Neurological diseases and metabolism
- Blood groups and transfusion
- Immune Cell Function and Interaction
- Erythrocyte Function and Pathophysiology
- Viral gastroenteritis research and epidemiology
- Inflammation biomarkers and pathways
- Blood transfusion and management
- Aquaculture disease management and microbiota
- Travel Writing and Literature
Masaryk University
2024-2025
University Hospital in Motol
2018-2024
Charles University
2011-2024
Leiden University
2023
Dutch Research Council
2023
ERN EpiCARE
2022
Northwestern University
2022
University of Otago
2022
University Hospital Heidelberg
2022
Austin Health
2022
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure share genetic factors, we pooled CNV data from 10,590 individuals disorders, 16,109 clinically validated epilepsy, and 492,324 population controls identified 25 genome-wide significant loci, 22 of which novel such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications...
Abstract Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer epilepsy risk and subtypes carry the CNV burden, have not been explored on a genome-wide scale. Here, we present largest investigation to date with 10 712 European cases 6746 ancestry-matched controls. Patients genetic generalized epilepsy, lesional focal non-acquired developmental epileptic encephalopathy were...
The preparation of a solid dosage form containing bacteriophages, which meets pharmaceutical requirements and ensures long-term stability the phage effect, is significant for implementing therapy in practice. A commonly used method processing phages into freeze-drying (so-called) freeze-dried cake; however, to date there have been no studies examining pharmacopeial parameters tablets with bacteriophages. In this study, we describe properties cocktail purified pseudomonal bacteriophage DSM...
NK cells represent a potential tool for adoptive immunotherapy against tumors. Membrane-bound Hsp70 acts as tumor-specific marker enhancing cell activity. Using flow cytometry the effect of in vitro stimulation with IL-2 or IL-15 alone combination Hsp70-derived 14-mer peptide (TKD) on surface expression activatory receptors (CD16, NKG2D, NKG2C, NKp46, NKp44, NKp30, KIR2DL4, DNAM-1, and LAMP1) inhibitory (NKG2A, KIR2DL2/L3, LIR1/ILT-2, NKR-P1A) healthy individuals was studied. Results were...
Abstract Recently, biallelic variants in the SORD gene were identified as causal for axonal hereditary neuropathy (HN). We ascertained spectrum and frequency of among a large cohort Czech patients with unknown cause HN. Exome sequencing data analysed (58 patients). The prevalent c.757del variant was tested fragment analysis (931 Sanger additional 70 done. PCR primers designed to amplify exclusion pseudogene SORD2P . Sequence differences between frequencies SNPs calculated. Eighteen from 16...
Heat-shock proteins (Hsps) are thought to play a role in the development of cancer and modulate tumor response cytotoxic therapy. In this study, Hsp27, Hsp60, Hsp90α, HspBP1 gene expression was investigated human leukemia cell lines as well cells derived from patients with onset disease. Hsp70 membrane Hsp70, genes were also tested samples patients. Relative Hsps examined patients, using real-time quantitative reverse-transcriptase polymerase chain reaction (RT-PCR). surface studied flow...
Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function are frequently associated seizures different stages the disease. Here we report a patient severe neurodegeneration drug-resistant epilepsy unknown etiology from age 2 years.Using whole exome sequencing, found heterozygous missense de novo variant c.628G > A (p.Glu210Lys) UBTF gene. This was recently described as 11 patients similar characterized by developmental initially...
KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate neurodevelopmental and epilepsy phenotypic spectrum associated with de novo variants.We screened 893 individuals developmental epileptic encephalopathies for variants using targeted or exome sequencing. Additional were identified through an international collaboration. Clinical history, EEG, imaging data analyzed; seizure types syndromes classified. included 3 previously published including additional...
Heat shock proteins (Hsps) have been repeatedly implicated to participate in the pathogenesis of rheumatoid arthritis (RA).Methods: Herein, Hsp70 cell surface and mRNA expression were studied human fibroblast-like synovial cells, dermal fibroblasts peripheral blood leukocytes derived from 24 RA patients, who underwent synovectomy by using flow-cytometric analysis real-time quantitative reverse-transcriptase polymerase chain reaction. For comparison, 17 healthy controls tested.Results:...
Abstract Intracellular trafficking involves an intricate machinery of motor complexes, including the dynein complex, to shuttle cargo for autophagolysosomal degradation. Deficiency in axonemal chains, as well cytoplasmic light and intermediate have been linked with ciliary dyskinesia skeletal dysplasia. The 1 heavy chain protein (DYNC1H1) serves a core complex retrograde neuronal axons. Dominant pathogenic variants DYNC1H1 previously implicated peripheral neuromuscular disorders (NMD)...
Objective: Heat shock proteins (Hsps) have been repeatedly implicated in the pathogenesis of rheumatoid arthritis (RA). The aim this work was to study Hsp mRNA and protein levels determine whether they can be used differentiate between RA, osteoarthritis (OA), healthy controls.Methods: Hsp27, Hsp60, Hsp70, Hsp90α, HspBP1 expression analysed using real-time quantitative reverse transcription polymerase chain reaction (qRT-PCR) 24 11 OA, 21 controls. Hsp70 were measured serum an enzyme-linked...
Analyses of few gene-sets in epilepsy showed a potential to unravel key disease associations. We set out investigate the burden ultra-rare variants (URVs) comprehensive range biologically informed presumed be implicated epileptogenesis. The 12 URV types 92 was compared between cases and controls using whole exome sequencing data from individuals European descent with developmental epileptic encephalopathies (DEE, n = 1,003), genetic generalized (GGE, 3,064), or non-acquired focal (NAFE,...
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies characterised by refractory seizures, developmental delay, or regression generally poor prognosis. DEE now known to have an identifiable molecular genetic basis usually examined using gene panel. However, for many patients, the cause has still not been identified. The aims this study were identify causal variants in patients whom previous examination with panel did determine their diagnosis. It...
Hsp70 was found to be expressed on the cell surface of leukemia lines compared with normal cells. and mRNA expression studied in K562, Jurkat CCRF-CEM human during several passages vitro culture. All were positive for expression. However, increased observed only K562 cells where 9.88-fold higher average healthy controls. cells, however, showed a significant negative correlation between expression; high correlated low line.
Abstract Sequencing-based studies have identified novel risk genes for rare, severe epilepsies and revealed a role of rare deleterious variation in common epilepsies. To identify the shared distinct ultra-rare genetic factors epilepsies, we performed whole-exome sequencing (WES) analysis 9,170 epilepsy-affected individuals 8,364 controls European ancestry. We focused on three phenotypic groups; but developmental epileptic encephalopathies (DEE), commoner phenotypes generalized epilepsy (GGE)...
Abstract Focal cortical dysplasia (FCD) represents the most common cause of drug‐resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes FCD remain unknown. We present a patient with an exceptionally rapid development evolving super‐refractory status epilepticus. performed multiple clinical (serial EEG, MRI), biochemical (metabolic immunological screening), (WES from blood‐ brain‐derived DNA), histopathological investigations. The...