- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy. Cognitive functions were normal in 10 patients. Four, six and 24 patients had mild, moderate, and severe developmental delay, respectively, typically subsequent to developmental regression (59%). Residual enzyme activity showed no predictive value, and estimation of glycosaminoglycans (GAGs) had only limited importance for prognosis. Mutation analysis performed in 36 families led to the identification of 12 novel mutations, eight of which were small deletions/insertions. Large deletions/rearrangements and all but one small deletion/insertion led to a severe phenotype. This genotype-phenotype correlation was also identified in six cases with recurrent missense mutations. Based on patient genotype, the severity of the disease may be predicted with high probability in approximately half of MPS II patients.
- MeSH
- dítě MeSH
- dospělí MeSH
- genetické asociační studie MeSH
- glykoproteiny genetika MeSH
- glykosaminoglykany moč MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mukopolysacharidóza II etiologie genetika MeSH
- mutace * MeSH
- předškolní dítě MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Česká republika MeSH
- Chorvatsko MeSH
- Slovenská republika MeSH
- Srbsko MeSH
Phthalate esters are ubiquitous environmental pollutants widely used as plasticizers, which have been shown to interfere with both endocrine regulation and development of reproductive organs. In the present study, we examined the impact of diethylhexyl phthalate (DEHP) and dibutyl phthalate (DBP) on the proliferation of androgen-sensitive human prostate carcinoma LNCaP cells and related events. The results showed that both compounds were able to inhibit cell cycle progression in a dose-dependent manner. However, only DEHP was found to weakly reduce androgen receptor (AR) protein levels after long-term exposure, while only DBP partially inhibited expression of the prostate-specific antigen (KLK3) gene, a model AR transcriptional target. This indicated that inhibition of cell proliferation was likely independent of any AR modulations. Both phthalates induced suppression of cell proliferation, but none of them affected the levels of markers associated with neuroendocrine transdifferentiation (NED) in LNCaP cells. Taken together, the presented data indicate that phthalates may exert long-term negative effects on the proliferation of prostate epithelial cells derived from the carcinoma model, which are, nevertheless, largely independent of the modulation of AR expression/activity, and which do not alter further processes associated with NED.
- MeSH
- biologické modely * MeSH
- buněčný cyklus účinky léků MeSH
- dibutylftalát toxicita MeSH
- diethylhexylftalát toxicita MeSH
- kyseliny ftalové toxicita MeSH
- lidé MeSH
- messenger RNA genetika metabolismus MeSH
- nádorové buněčné linie MeSH
- nádory prostaty genetika patologie MeSH
- neuroendokrinní buňky účinky léků patologie MeSH
- počet buněk MeSH
- proliferace buněk účinky léků MeSH
- prostatický specifický antigen genetika metabolismus MeSH
- regulace genové exprese u nádorů účinky léků MeSH
- transdiferenciace buněk účinky léků MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- MeSH
- chromatografie metody MeSH
- dítě MeSH
- finanční podpora výzkumu jako téma MeSH
- klinické laboratorní techniky statistika a číselné údaje MeSH
- kyselina methylmalonová krev moč MeSH
- lidé MeSH
- methylmalonyl-CoA-mutasa genetika krev metabolismus MeSH
- mutační analýza DNA metody statistika a číselné údaje MeSH
- nedostatek vitaminu B12 MeSH
- spektrofotometrie metody MeSH
- vitamin B 12 aplikace a dávkování metabolismus MeSH
- vrozené poruchy metabolismu diagnóza etiologie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
