Home > Search Results: keywords:"SIM1"
Search:
Search Tips :: Advanced Search
Search collections:
Sort by: Display results: Output format:
National Repository of Grey Literature 1 records found  Search took 0.00 seconds. 
Determination of mutation spectrum and frequency representation of variants in genes involved in Melanocortin Receptor Type 4 Signaling Cascade (MC4R)
 Toman, Izabela ; Včelák, Josef (advisor) ; Aldhoon Hainerová, Irena (referee)
This master's thesis is focused on determination of mutation spectrum and frequency representation of variants in genes involved in Melanocortin Receptor Type 4 Signaling Cascade. Mutation in genes connected to MC4R signalisation cascade may induce so called monogenic type of obesity, which is characterised not only by mutation in single gene but also by an early onset severe obesity and hyperphagia. Due to new means of medications being introduced its especially important to ascertain the frequency of mutations in Czech children and adolescent population. Theoretic part of the thesis is devoted to description of energy homestasis and leptin- melanocortin pathway. Physiology of hunger and satiety and the most common causes of obesity and monogenic obesity are also included. There is also mention of population differences in genetical predisposition for monogenic obesity namely in genes MC4R, POMC, SIM1 and BDNF which were the focal points of this thesis. In practical part, genetical analysis of 1910 samples from Czech children and adolescent population was implemented. We identified twelve different, likely pathogenic causal variants via next generation sequencing. More precisely eight different MC4R variants, 2 POMC variants and 2 SIM1 variants. In those, two novel variants were found c.346 C> T...
Detailed record

Interested in being notified about new results for this query?
Subscribe to the RSS feed.
Digital Repository :: Search :: Submit :: Personalize :: Help
Powered by Invenio v1.1.2
Maintained by admin.invenio@techlib.cz
This site is also available in the following languages:
Česky  English