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Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
ArticleAbstract: We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PPalabras claves:CSDE1, expression subtypes, Genomics, MAML3, Metástasis, molecular profiling, Paraganglioma, pheochromocytoma, Sequencing, TCGAAutores:Akbani R., Ally A., Amar L., Amelio A.L., Arachchi H., Asa S.L., Auman J.T., Baertsch R., Balasundaram M., Balu S., Bartsch D.K., Baudin E., Bauer T., Beaver A., Benz C., Beroukhim R., Beuschlein F., Bodenheimer T., Boice L., Bowen J., Bowlby R., Brooks D., Carlsen R., Carter S., Cassol C.A., Cherniack A.D., Chin L., Cho J., Chuah E., Chudamani S., Cope L., Crain D., Curley E., Danilova L., De Cubas A.A., de Krijger R.R., Demchok J.A., Deutschbein T., Dhalla N., Dimmock D., Dinjens W.N.M., Else T., Eng C., Eschbacher J., Fassnacht M., Felau I., Feldman M., Ferguson M.L., Fiddes I., Fishbein L., Frazer S., Gabriel S.B., Gardner J., Gastier-Foster J.M., Gehlenborg N., Gerken M., Getz G., Geurts J., Ghayee H.K., Gimenez-Roqueplo A.P., Giordano T.J., Goldman M., Graim K., Gupta M., Haan D., Hahner S., Hantel C., Haussler D., Hayes D.N., Heiman D.I., Hoadley K.A., Holt R.A., Hoyle A.P., Huang M., Hunt B., Hutter C.M., Jefferys S.R., Johnson A.R., Jones C.D., Jones S.J.M., Kasaian K., Kebebew E., Kim J., Kimes P., Knijnenburg T., Korpershoek E., Lander E., Lawrence M.S., Lechan R., Leshchiner I., Lichtenberg T.M., Ling S., Makowski L., Murray B.A., Rathmell W.K., Richard J. Auchus, Robertson A.G., Tischler A.S., Walter V., Wenz B.Fuentes:scopusHigh frequency and founder effect of the CYP3A4∗20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme
ArticleAbstract: Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have beenPalabras claves:Autores:Adrián LLerena, Apellániz-Ruiz M., Carracedo Á., Cascón A., Comino-Méndez I., Currás-Freixes M., De Cubas A.A., Grazina M., Ingelman-Sundberg M., Inglada-Pérez L., Mancikova V., Moya G.E., Naranjo M.E.G., Opocher G., Rasool M., Rebai A., Robledo M., Rodríguez-Antona C., Sánchez L., Taboada-Echalar P., Triki S.Fuentes:scopus