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Mutations of the KISS1 gene in disorders of puberty.
Silveira LG, Noel SD, Silveira-Neto AP, Abreu AP, Brito VN, Santos MG, Bianco SD, Kuohung W, Xu S, Gryngarten M, Escobar ME, Arnhold IJ, Mendonca BB, Kaiser UB, Latronico AC. Silveira LG, et al. Among authors: bianco sd. J Clin Endocrinol Metab. 2010 May;95(5):2276-80. doi: 10.1210/jc.2009-2421. Epub 2010 Mar 17. J Clin Endocrinol Metab. 2010. PMID: 20237166 Free PMC article.
A GPR54-activating mutation in a patient with central precocious puberty.
Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC. Teles MG, et al. Among authors: bianco sd. N Engl J Med. 2008 Feb 14;358(7):709-15. doi: 10.1056/NEJMoa073443. N Engl J Med. 2008. PMID: 18272894 Free PMC article.
Human diseases associated with GPR54 mutations.
Teles MG, Silveira LF, Bianco S, Latronico AC. Teles MG, et al. Prog Mol Biol Transl Sci. 2009;88:33-56. doi: 10.1016/S1877-1173(09)88002-2. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374724 Review.
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
Chan YM, Broder-Fingert S, Paraschos S, Lapatto R, Au M, Hughes V, Bianco SD, Min L, Plummer L, Cerrato F, De Guillebon A, Wu IH, Wahab F, Dwyer A, Kirsch S, Quinton R, Cheetham T, Ozata M, Ten S, Chanoine JP, Pitteloud N, Martin KA, Schiffmann R, Van der Kamp HJ, Nader S, Hall JE, Kaiser UB, Seminara SB. Chan YM, et al. Among authors: bianco sd. J Clin Endocrinol Metab. 2011 Nov;96(11):E1771-81. doi: 10.1210/jc.2011-0518. Epub 2011 Aug 31. J Clin Endocrinol Metab. 2011. PMID: 21880801 Free PMC article.
Cardiac expression of human type 2 iodothyronine deiodinase increases glucose metabolism and protects against doxorubicin-induced cardiac dysfunction in male mice.
Hong EG, Kim BW, Jung DY, Kim JH, Yu T, Seixas Da Silva W, Friedline RH, Bianco SD, Seslar SP, Wakimoto H, Berul CI, Russell KS, Lee KW, Larsen PR, Bianco AC, Kim JK. Hong EG, et al. Among authors: bianco sd, bianco ac. Endocrinology. 2013 Oct;154(10):3937-46. doi: 10.1210/en.2012-2261. Epub 2013 Jul 16. Endocrinology. 2013. PMID: 23861374 Free PMC article.
29 results