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RESEARCH GROUPS
Group U712
Programme: Endocrine Medicine
Lead Researcher: Carrascosa, Antonio Group Members
STAFF MEMBERS: Fernández Cancio, Mónica ASSOCIATED MEMBERS: Andaluz López, Pilar | Audi Parera, Laura | Clemente León, María | Gussinye Ca-
nadell, Miquel | Torán Fuentes, Nuria | Yeste Fernández, Diego
Main lines of research
• Genetic regulation of growth in control an delayed growth populations: genes GH1, GHR, GHRHR, IGF-1, IGF1R, VDR .
• Hormone and growth factor regulation of proliferation and gene expression in growing human car- tilage .
• Analysis of new genes involved in human sex differentiation: AR, SRD5A2, HSD17B3, CYP17A1, CYP19A1, StAR, SF1, MAMLD1, GATA4 . Search of new genes .
• Genes involved in congenital isolated glucocorticoid deficiency: genes MC2R, MRAP, StAR, CYP11A1 . • Epidemiological and genetic factors involved in raquitism . Genes VDR, MC1R, TYR1, TYRP1-1, TYRP1-
2, OCA2-1, OCA2-2, SLC45A2-1, SLC45A2-2, SLC24A5-1, KITLG-1 .
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CIBERER » Annual report 2014
