A5034321944- Amyloidosis: Diagnosis, Treatment, Outcomes
- Metabolism and Genetic Disorders
- Lysosomal Storage Disorders Research
- Renal Diseases and Glomerulopathies
- Genetic Associations and Epidemiology
- Neurogenetic and Muscular Disorders Research
- Ion Transport and Channel Regulation
- Dermatological and Skeletal Disorders
- Trypanosoma species research and implications
- Biomedical Research and Pathophysiology
- Endoplasmic Reticulum Stress and Disease
- Amino Acid Enzymes and Metabolism
- Prenatal Screening and Diagnostics
- Chronic Kidney Disease and Diabetes
- Skin and Cellular Biology Research
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Peroxisome Proliferator-Activated Receptors
- Pancreatitis Pathology and Treatment
- Autism Spectrum Disorder Research
- Eicosanoids and Hypertension Pharmacology
- Personality Disorders and Psychopathology
- Parathyroid Disorders and Treatments
- Cellular transport and secretion
- Folate and B Vitamins Research
Charles University
2010-2024
General University Hospital in Prague
2010-2024
The genetic correlates of extreme impulsive violence are poorly understood, and there have been few studies that characterized a large group affected individuals both clinically genetically. We performed whole exome sequencing (WES) in 290 males with the life-course-persistent, extremely impulsively violent form antisocial personality disorder (APD) analyzed spectrum rare protein-truncating variants (rPTVs). Comparisons were made 314 male controls publicly available genotype data. Functional...
Key Points The clinical significance of a number missense variants α -galactosidase A is often ambiguous. Defective proteostasis some induced chronic endoplasmic reticulum stress and the unfolded protein response. Endoplasmic response may explain manifestations non-classic Fabry disease. Background Classic disease caused by GLA mutations that result in loss enzymatic activity A, lysosomal storage globotriaosylceramide, resulting multisystemic In disease, patients have preserved milder...
Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to autosomal dominant due two different pathogenic APOA4 variants. A large family with chronic kidney disease (CKD) and bland urinary sediment underwent whole genome sequencing identification a chr11:116692578 G>C (hg19) variant encoding the missense mutation p.L66V ApoA4 protein. We identified other distantly related from our registry same chr11:116693454 C>T p.D33N. Both...
In a female patient with signs of ornithine carbamoyltransferase deficiency (OTCD), the only variation found was heterozygous single nucleotide substitution c.-366A>G. Determination transcription start sites human OTC 95, 119 and 169 bp upstream initiation codon located 5'-untranslated region. We predicted promoter enhancer elements from homology rat mouse, performed function analysis both regulatory regions assessed impact in functional studies using dual luciferase reporter assay. Our data...
The genetic correlates of extreme impulsive violence are poorly understood, and there have been no studies that systematically characterized a large group affected individuals both clinically genetically. We performed genome‐wide rare copy number variant (CNV) analysis in 281 males from four Czech prisons who met strict clinical criteria for violence. Inclusion included age ≥ 18 years, an ICD‐10 diagnosis Dissocial Personality Disorder, the absence organic brain disorder. Participants...
Abstract Background Spinal muscular atrophy (SMA) is an inherited neuromuscular disease affecting 1 in 8,000 newborns. The majority of patients carry bi‐allelic variants the survival motor neuron gene ( SMN1 ). located a duplicated region on chromosome 5q13 that contains Alu elements and predisposed to genomic rearrangements. Due complexity SMN genetic heterogeneity, approximately 50% SMA remain without diagnosis prerequisite for treatments. In this work we describe diagnostic odyssey one...
Abstract Background Classic Fabry disease (FD) is caused by GLA mutations that result in enzymatic deficiency of alpha-galactosidase A (AGAL), lysosomal storage globotriaosylceramide, and a resulting multisystemic disease. In non-classic later-onset FD, patients have some preserved AGAL activity milder course, though female carriers may also be affected. While FD pathogenesis has been mostly attributed to catalytic mutated AGAL, impairment functions, other pathogenic factors important,...