Page 53 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
Blanco FJ, oJeda-FernándeZ l, aristorena m, gallar- do-Vara e, Benguria a, doPaZo a, langa c, Botella lm, BernaBeu c. Genome-wide transcriptional and functional analysis of endoglin isoforms in the human promonocytic cell line U937. J. Cell Physiol. (2015) Apr; 230(4): 947-958. doi: 10.1002/jcp.24827.
del castillo g, sáncheZ-Blanco e, martín-Villar e, Val- Buena-dieZ ac, langa c, PéreZ-gómeZ e, renart J, Bern- aBéu c, quintanilla m. Soluble endoglin antagonizes Met signaling in spindle carcinoma cells. Carcinogenesis. (2015) Feb; 36(2): 212-222. doi: 10.1093/carcin/bgu240.
rossi e, lóPeZ-noVoa Jm, BernaBeu c. Endoglin involve- ment in integrin-mediated cell adhesion as a putative pathogenic mechanism in Hereditary Hemorrhagic Tel- angectasia type 1 (HHT1). Front. Genet. (2015) January
Highlights
HHT NETWORK. We have made advances to cre- ate a Spanish network of clinical units in Hereditary Hemorrhagic Telangiectasia (HHT), reaching agree- ments regarding HHT assessment protocols. The link-up request to join CIBERER from two HHT clin- ical groups has been processed: i) Dr. Antoni Riera Mestre (Hospital de Bellvitge, Barcelona); and ii) Dr. José Luis Patier (Hospital Universitario Ramón y Ca- jal, Madrid).
ORPHAN DRUG. After obtaining the designation by the EMA (European Medicines Agency) of Baze- doxifene acetate (Conbriza) as an orphan drug for HHT, a maintenance report corresponding to 2015 has been issued, as requested by EMA.
PATHOGENIC MECHANISM. The involvement of endoglin in integrin-mediated cell adhesion has been postulated as a pathogenic mechanism in HHT and the reported biomarkers for this disease have been analyzed. Progress has been made in understand- ing the role of membrane endoglin (mutated protein in HHT1). It has been demonstrated that propranolol reduces viability and induces apoptosis in heman- gioblastoma cells from von Hippel-Lindau patients.
2015, volume 5, article 457, pages 1-5. doi: 10.3389/ fgene.2014.00457.
Botella lm, alBiñana V, oJeda-FernándeZ l, recio-PoV- eda l, BernaBéu c. Research on potential biomarkers in hereditary hemorrhagic telangiectasia. Front. Genet. (2015) March 31; volume 6: article 115, pages 1-9. doi: 10.3389/fgene.2015.00115.
alBiñana V, Villar gómeZ de las heras K, serra- no-heras g, segura t, Perona-moratalla aB, mo- ta-PéreZ m, de camPos Jm, Botella lm. Propranolol reduces viability and induces apoptosis in hemangioblas- toma cells from von Hippel-Lindau patients. Orphanet J. Rare Dis. 2015 Sep 22; 10(1): 118. doi: 10.1186/s13023- 015-0343-5.
PARTNERSHIPS AND OTHERS. We have main- tained an active collaboration with the the Span- ish Patient Association of HHT, FEDER, European associations of HHT through EURORDIS and the American international HHT association. We have actively participated in several scientific conferenc- es, especially in the “11th International Hereditary Hemorrhagic Telangiectasia Scientific Conference”, Captiva, Florida, USA (11-14 June, 2015) and the VIII Meeting of the Spanish HHT Association, Fundación ONCE, Madrid (9-10 October, 2015). Two doctoral theses have been presented by contracted/affiliated CIBERER members: i) Maria Luisa Ojeda Fernandez; Plasma biomarkers and impaired immune response in Hereditary Hemorrhagic Telangiectasia (HHT). December 18, 2015. ii) Roberto Zarrabeitia Puente; Epidemiology of HHT in Spain: Experience in the specialized unit of the Hospital Sierrallana (2003- 2013). December 15, 2015.
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas
Contact: Centro de Invest. Biológicas · Ramiro de Maeztu, 9. 28040 Madrid · Tel.: 91 837 31 12 ext 4246
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