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Most relevant scientific articles
• pérez-Gómez e, JerKic m, prieto m, Del castillo G, martín-Villar e, letarte m, bernabeu c, pérez-barriocanal F, quintanilla m, lópez-noVoa Jm. Impaired Wound Repair In Adult Endoglin Heterozygous Mice As- sociated With Lower NO Bioavailability . J . Invest . Dermatol . (2014) 134(1): 247-255 . doi: 10 .1038/ jid .2013 .263 .
• tobar n, aValos mc, ménDez n, smitH pc, bernabeu c, quintanilla m, martínez J . Soluble MMP-14 pro- duced by bone marrow-derived stromal cells sheds epithelial endoglin modulating the migratory properties of human breast cancer cells . Carcinogenesis . (2014) 35(8): 1770-1779 . doi: 10 .1093/ carcin/bgu061 .
• aristorena m, blanco FJ, De las casas-enGel m, oJeDa-FernanDez l, GallarDo-Vara e, corbi a, botella lm, bernabeu c . Expression of endoglin isoforms in the myeloid lineage and their role during aging and macrophage polarization . J . Cell Sci . (2014) 127(Pt 12): 2723-2735 . doi: 10 .1242/jcs .143644 .
• ouJo b, muñoz-Félix Jm, aréValo m, núñez-Gómez e, pérez-roque l, pericacHo m, González-núñez m, lanGa c, martínez-salGaDo c, perez-barriocanal F, bernabeu c, lopez-noVoa Jm . L-Endoglin Overexpression In- creases Renal Fibrosis after Unilateral Ureteral Obstruction . PLoS One . (2014) Oct 14; 9(10): e110365 . doi: 10 .1371/journal .pone .0110365 . eCollection 2014 .
Highlights
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas Contact: Centro de Investigaciones Biológicas, CSIC Departamento de Medicina Celular y Molecular C/ Ramiro de Maeztu, 9 . 28040 Madrid · Tel .: (+34) 91 837 31 12 ext 4246
• HHT NETWORK. In order to create a Spanish network of clinical units in Hereditary Hemorrhagic Telangiectasia (HHT), we have organized, with the support of CIBERER and the Spanish Society of Internal Medicine, a meeting in Madrid (December 2014) where clinicians from different hospitals in Spain and Portugal, as well as representatives of Patients Associations, shared their experience . An agreement was reached regarding HHT assessment protocols, establishing a solid base to create a clinical network of HHT .
• ORPHAN DRUG. In November 2014, we managed to obtain the designation by the EMA (European Medicines Agency) of Bazedoxifene acetate (Conbriza) as an orphan drug for HHT . We are currently negotiating with Pfizer the development of a clinical trial .
• PATHOGENIC MECHANISM. We have made progress in understanding the role of endoglin, a pro- tein that is mutated in HHT . We have characterized its functional involvement in the myeloid lineage (monocytes and macrophages) and we have described that haploinsufficiency of endoglin interferes with the wound repair mechanism . We have also described the implication of soluble endoglin in the migration of breast cancer cells and that overexpression of endoglin increases renal fibrosis after uni- lateral ureteral obstruction .
• PARTNERSHIPS AND OTHERS. We have maintained an active collaboration with the the Spanish Pa- tient Association of HHT, FEDER, European associations of HHT through EURORDIS and the American international association . We have actively participated in the presentation of results in various scien- tific conferences . In 2014, Carmelo Bernabeu received funding from the National Plan (SAF2013- 43421-R) to continue studies of HHT genes until the end of 2016 . In October 2014, we received the Prize Iñigo Alvarez de Toledo (XXV edition) to the Basic Research in Nephrology through labor “Oxysterol-induced soluble endoglin release and Its Involvement in hypertension” .
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