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20,21 Based on studies of genetically modified mice, considerable progress has been made in illustrating the functions of genes such as Mecp2 (Rett syndrome), Tsc1/2 (tuberous sclerosis), Fmrp (fragile X syndrome), Pten and Shank3 (PhelanMcDermid syndrome) in several monogenetic diseases

doi:10.1124/jpet.105.099507 pmid:16505160 Yang X, Guo Z, Sun F, Li W, Alfano A, Shimelis H, Chen M, Brodie AM, Chen H, Xiao Z, Veenstra TD, Qiu Y (2011) Novel membrane-associated androgen receptor splice variant potentiates proliferative and survival responses in prostate cancer cells

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[DOI] [PubMed] [Google Scholar] 109.Shah R., Shchepinov M.S., Pratt D.A