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RESEARCH GROUPS
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PROGRAMME:
Group U712
Endocrine Medicine
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Group Members
Lead Researcher
íCarrascosa Lezcano, Antonio
STAFF MEMBERS
Fernndez Cancio, Mnica
Contact:
ASSOCIATED MEMBERS
Albisu Aparicio, Mara ngeles
Vall d’Hebron Institut de Recerca (VHIR),
Institut Catal de la Salut, CIBERER (ISCIII), Andaluz Lpez, Pilar
Aud Parera, Laura
Universidad Autnoma de Barcelona, Barcelona.
Servicio de Pediatra. Hospital Vall d’Hebron. Paseo Vall d’Hebron 119. Clemente Len, Mara
Gussiny Canadell, Miquel
Phone: (+34) 93 489 30 63 · E.mail: [email protected]
Website: www.vhir.org
Torn Fuentes, Nuria
Yeste Fernndez, 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 13
in growing human cartilage.
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• Analysis of new genes involved in human sex differentiation: AR, SRD5A2, R
PO
HSD17B3, CYP17A1, CYP19A1, StAR, SF1, MAMLD1, GATA4. Search of E
L R
new genes.
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• Genes involved in congenital isolated glucocorticoid deficiency: genes N
MC2R, MRAP, StAR, CYP11A1.
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• Epidemiological and genetic factors involved in raquitism. Genes VDR, ER
MC1R, TYR1, TYRP1-1, TYRP1-2, OCA2-1, OCA2-2, SLC45A2-1, SLC45A2-2, B
CI
SLC24A5-1, KITLG-1.
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