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The melanocortin-4 receptor as target for obesity treatment: a systematic review of emerging pharmacological therapeutic options.
Fani L, Bak S, Delhanty P, van Rossum EF, van den Akker EL. Fani L, et al. Int J Obes (Lond). 2014 Feb;38(2):163-9. doi: 10.1038/ijo.2013.80. Epub 2013 Jun 18. Int J Obes (Lond). 2014. PMID: 23774329 Review.
There are currently no effective clinical treatments for MC4R-deficient obese patients, although MC4R agonists are being developed and are entering phase I and II trials....
There are currently no effective clinical treatments for MC4R-deficient obese patients, although MC4R agonists are being developed an …
Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4.
Scherf DB, Sarkisyan N, Jacobsson H, Claus R, Bermejo JL, Peil B, Gu L, Muley T, Meister M, Dienemann H, Plass C, Risch A. Scherf DB, et al. Oncogene. 2013 Jul 11;32(28):3329-38. doi: 10.1038/onc.2012.344. Epub 2012 Sep 3. Oncogene. 2013. PMID: 22945651 Free PMC article.
Confirming previous studies, we also found hypermethylation in CHRNA3 and telomerase reverse transcriptase (TERT) with significant expression changes. Decitabine treatment of H1299 cells resulted in reduced methylation levels in gene promoters, elevated transcript levels o …
Confirming previous studies, we also found hypermethylation in CHRNA3 and telomerase reverse transcriptase (TERT) with significant ex …
Telomerase-dependent oncolytic adenovirus for cancer treatment.
Huang TG, Savontaus MJ, Shinozaki K, Sauter BV, Woo SL. Huang TG, et al. Gene Ther. 2003 Aug;10(15):1241-7. doi: 10.1038/sj.gt.3301987. Gene Ther. 2003. PMID: 12858189
Thus, we constructed a TERT promoter regulated CRAD for tumor-specific oncolysis by replacing the endogenous adenovirus E1A promoter with that of human TERT (Adv-TERTp-E1A). We showed that its replication was severely attenuated in TERT-negative cells, but th …
Thus, we constructed a TERT promoter regulated CRAD for tumor-specific oncolysis by replacing the endogenous adenovirus E1A promoter …
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
Shigematsu Y, Hata I, Tajima G. Shigematsu Y, et al. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S283-8. doi: 10.1007/s10545-010-9111-9. Epub 2010 May 4. J Inherit Metab Dis. 2010. PMID: 20440648
Methanol extract from DBS was dried and derivatized using N-methyl-N-(tert-butyldimethylsilyl)-trifluoroacetamide. GC/MS was performed using splitless injection, electron-impact ionization, and selected ion monitoring for data recording. ...
Methanol extract from DBS was dried and derivatized using N-methyl-N-(tert-butyldimethylsilyl)-trifluoroacetamide. GC/MS was performe …
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
Dajnoki A, Mühl A, Fekete G, Keutzer J, Orsini J, Dejesus V, Zhang XK, Bodamer OA. Dajnoki A, et al. Clin Chem. 2008 Oct;54(10):1624-9. doi: 10.1373/clinchem.2008.107722. Epub 2008 Aug 14. Clin Chem. 2008. PMID: 18703766
BACKGROUND: Pompe disease, caused by the deficiency of acid alpha-glucosidase (GAA), is a lysosomal storage disorder that manifests itself in its most severe form within the first months of life. Early detection by newborn screening is warranted, since prompt initiation of …
BACKGROUND: Pompe disease, caused by the deficiency of acid alpha-glucosidase (GAA), is a lysosomal storage disorder that manifests i …
Protonation sites and dissociation mechanisms of t-butylcarbamates in tandem mass spectrometric assays for newborn screening.
Spáčil Z, Hui R, Gelb MH, Tureček F. Spáčil Z, et al. J Mass Spectrom. 2011 Oct;46(10):1089-98. doi: 10.1002/jms.1993. J Mass Spectrom. 2011. PMID: 22012676 Free PMC article.
Structures of tert-butylcarbamate ions in the gas-phase and methanol solution were studied for simple secondary and tertiary carbamates as well as for carbamate-containing products and internal standards for lysosomal enzyme assays used in newborn screening of a alpha-gala …
Structures of tert-butylcarbamate ions in the gas-phase and methanol solution were studied for simple secondary and tertiary carbamat …
Sulforaphane decreases endothelial cell apoptosis in fuchs endothelial corneal dystrophy: a novel treatment.
Ziaei A, Schmedt T, Chen Y, Jurkunas UV. Ziaei A, et al. Invest Ophthalmol Vis Sci. 2013 Oct 15;54(10):6724-34. doi: 10.1167/iovs.13-12699. Invest Ophthalmol Vis Sci. 2013. PMID: 24030461 Free PMC article.
To date, other than surgical intervention, there are no treatment options for patients with FECD. We have shown that in FECD, there is a deficiency in nuclear factor erythroid 2-related factor 2 (Nrf2)-regulated antioxidant defense due to decreased Nrf2 nuclear translocati …
To date, other than surgical intervention, there are no treatment options for patients with FECD. We have shown that in FECD, there is a …