Miroslav Votruba
A5085140166- Renal Diseases and Glomerulopathies
- Kidney Stones and Urolithiasis Treatments
- Lysosomal Storage Disorders Research
- Dialysis and Renal Disease Management
- Horticultural and Viticultural Research
- Ion Transport and Channel Regulation
- Genetic Syndromes and Imprinting
- Trypanosoma species research and implications
- Glycosylation and Glycoproteins Research
- Plant Physiology and Cultivation Studies
- Lipoproteins and Cardiovascular Health
- Biochemical and Molecular Research
- Tree Root and Stability Studies
- Cellular transport and secretion
- Crop Yield and Soil Fertility
- Genomics and Rare Diseases
- Biomedical Research and Pathophysiology
- Endoplasmic Reticulum Stress and Disease
- Cancer, Lipids, and Metabolism
- Chronic Kidney Disease and Diabetes
Charles University
1986-2024
General University Hospital in Prague
2022-2024
Background Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene ( MUC1 ) mutations (ADTKD- is characterized progressive failure. Genetic evaluation for ADTKD- specifically tests a cytosine duplication that creates unique frameshift protein (MUC1fs). Our goal was to develop immunohistochemical methods detect the MUC1fs created and, possibly, other similar and identify novel in individuals with positive staining protein. Methods We performed immunostaining on urinary...
Autosomal dominant tubulo-interstitial kidney disease due to
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...
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,...
The reaction to diagnosis and quality of life (QOL) in autosomal dominant tubulointerstitial kidney disease (ADTKD) due UMOD MUC mutations from the time until treatment for end-stage (ESKD) has not been characterized. It is unclear how asymptomatic patients react a positive genetic test result.A cross-sectional survey concerning QOL testing was delivered 622 individuals who had undergone families with known ADTKD.286 completed survey, including 61 (21%) genetically unaffected, 36 (12%) stage...
The influence of IAA in two concentrations (10−8M and 10−5M) on relations between growth, water absorption cation uptake accumulation was tested.IAA a higher concentration retarded growth remarkably. First all, potassium were significantly decreased while the divalent cations affected later less 10−8 M accelerated rate slightly together with acceleration uptake.
Biologia plantarum, an international journal for experimental botany founded in 1959 by Professor Bohumil Němec. Covers all branches of ranging from molecular biology and biotechnology to whole-plant stand functioning.