Investigación sobre Anomalías Congénitas

Circadian Gene cry Controls Tumorigenesis through Modulation of Myc Accumulation in Glioblastoma Cells. (2022) Int J Mol Sci.

Jarabo P, de Pablo C, González-Blanco A, Casas-Tintó S.

Cell-to-cell communication mediates glioblastoma progression in Drosophila. (2020) Biol Open.

Marta Portela, Teresa Mitchell, Sergio Casas-Tintó.

Meeting report of the 17th Spanish Society for Developmental Biology Meeting (SEBD2020). (2021) Int J Dev Biol.

Araújo SJ, Almudi I, Bozal-Basterra L, Casares F, Casas-Tintó S, Escalante A, García-Moreno F, Losada-Pérez M, Maeso I, Marcon L, Ocaña O, Pampliega O, Rada-Iglesias Á, Rayon T, Sharpe J, Sutherland JD, Villa Del Campo C, Barrio R.

PUBMED DOI

Modeling invasion patterns in the glioblastoma battlefield. (2021) PLoS Comput Biol.

Conte M, Casas-Tintò S*, Soler J*.

PUBMED DOI

Insulin signaling mediates neurodegeneration in glioma. (2021) Life Sci Alliance.

Jarabo P, de Pablo C, Herranz H, Martín FA, Casas-Tintó S.

PUBMED DOI

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

1. Gómez-Mariano G, Matamala N, Martínez S, Justo I, Marcacuzco A, Jiménez C, Monzón S, Cuesta I, Garfia C, Martínez MT, Huch M, Pérez de Castro I, Posada M, Janciauskiene S, Martínez-Delgado B. Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease. Hepatol Int. 2019;14: 127-137.

DOI

The EGFR-TMEM167A-p53 Axis Defines the Aggressiveness of Gliomas

2. Segura-Collar B, Gargini R, Tovar-Ambel E, Hérnandez-SanMiguel E, Epifano C, Pérez de Castro I, Hernández-Lain A, Casas-Tintó S, Sánchez-Gómez P. The EGFR-TMEM167A-p53 Axis Defines the Aggressiveness of Gliomas. Cancers (Basel). 2020;12(1):208.

DOI

Consequences of Lmna Exon 4 Mutations in Myoblast Function

3. Gómez-Domínguez, D.; Epifano, C.; de Miguel, F.; Castaño, A.G.; Vilaplana-Martí, B.; Martín, A.; Amarilla-Quintana, S.; Bertrand, A.T.; Bonne, G.; Ramón-Azcón, J.; Rodríguez-Milla, M.A.; Pérez de Castro, I. Consequences of Lmna Exon 4 Mutations in Myoblast Function. Cells 2020, 9, 1286.

DOI

Mitochondrial RNA methyltransferase TRMT61B is a new, potential aneuploidy biomarker and therapeutic target for unstable cancers

4. Martín A, Vilaplana-Martí B, Macías RIR, Martínez-Ramírez A, Cerezo A, Cabezas-Sainz P, Garranzo Asensio M, Epifano C, Amarilla S, Gómez-Domínguez D, Hernández I, Caleiras E, Camps J, Barderas R, Sánchez L, Velasco S, Pérez de Castro I. Mitochondrial RNA methyltransferase TRMT61B is a new, potential aneuploidy biomarker and therapeutic target for unstable cancers. Cell Death and Differentiation, 2022, 30(1): 37-53

DOI

Open label phase II clinical trial of ketoconazole as CYP17 inhibitor in metastatic or advanced non-resectable granulosa cell ovarian tumors.The GREKO (GRanulosa Et KetOconazole) trial. GETHI 2011-03

5. García-Donas J, Hurtado A, Garrigos L, Santaballa A, Redondo A, Vidal L, Lainez N, Guerra E, Rodríguez V, Cueva J, Bover I, Palacio I, Rubio MJ, Prieto M, López-Guerrero JA, Rodríguez-Moreno JF, García-Casado Z, García-Martínez E, Taus A, Pérez de Castro I, Navarro P, Grande E. Open label phase II clinical trial of ketoconazole as CYP17 inhibitor in metastatic or advanced non-resectable granulosa cell ovarian tumors.The GREKO (GRanulosa Et KetOconazole) trial. GETHI 2011-03. Clinical and Translational Oncology, 2023, 25: 2090-2098

DOI

CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds

6. Amarilla-Quintana S, Navarro P, Ramos A, Montero-Calle A, Cabezas-Sainz P, Barrero MJ, Megias D, Vilaplana-Marti B, Epifano C, Gomez-Dominguez D, Hernandez I, Monzon S, Cuesta I, Sanchez L, Barderas R, Garcia-Donas J, Alberto Martin, Pérez de Castro I. CRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds. Molecular Oncology 2025, 19: 1092-1116

DOI

CRISPR/Cas9-mediated elimination of the LMNA c.745C>G pathogenic mutation enhances survival and cardiac function in LMNA-associated congenital muscular dystrophy

7. Gómez-Domínguez D, Epifano C, Hernández I, Vilaplana-Martí B, Cesar S, de Molina-Iracheta A, Sena-Esteves M, Sarquella-Brugada G, Pérez de Castro I. CRISPR/Cas9-mediated elimination of the LMNA c.745C>G pathogenic mutation enhances survival and cardiac function in LMNA-associated congenital muscular dystrophy. bioRxiv 2025.02.13.638060; (in press in Molecular Therapy-Methods & Clinical Development)

DOI

EUROPLAN: a project to support the development of national plans on rare diseases in Europe. Public Health Genomics. 2013;16(6):278-87

Taruscio D, Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Huizer J, Fregonese L, Stefanov R, Bottarelli V, Weinman A, Le Cam Y, Gavhed D, Mincarone P, Bushby K, Frazzica RG, Donati C, Vittozzi L, Jessop E.

PUBMED DOI

Trends in systemic lupus erythematosus mortality in Spain from 1981 to 2010. Lupus. 2014 Apr;23(4):431-5

Ruiz E, Ramalle-Gómara E, Elena Á, Quiñones C, Alonso-Ferreira V, Posada de la Paz M; Spain RDR Working group.

PUBMED DOI

Childhood vasculitis hospitalizations in Spain, 1997-2011. Georgian Med News. 2014 May;(230):65-72

Villaverde-Hueso A, Alonso-Ferreira V, Morales-Piga A, Hens-Pérez M, Abaitua I, Posada de la Paz M.

PUBMED

Comparative cost-effectiveness analysis of oral triptan therapy for migraine in four European countries. Eur J Health Econ. 2014 May;15(4):433-7

Hens M, Villaverde-Hueso A, Alonso-Ferreira V, Abaitua I, Posada de la Paz M.

PUBMED DOI

Programa de detección precoz de trastornos generalizados del desarrollo en las áreas de salud de Salamanca y Zamora. An Pediatr (Barc). 2014 May;80(5):285-92

García Primo P, Santos Borbujo J, Martín Cilleros MV, Martínez Velarte M, Lleras Muñoz S, Posada de la Paz M, Canal Bedia R.

PUBMED DOI

Record linkage between hospital discharges and mortality registries for motor neuron disease case ascertainment for the Spanish National Rare Diseases Registry. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Jun;15(3-4):275-8

Ruiz E, Ramalle-Gómara E, Quiñones C; SpainRDR Working Group

PUBMED DOI

Respiratory diseases registries in the national registry of rare diseases. Arch Bronconeumol. 2014 Sep;50(9):397-403

Lara Gallego B, Abaitua Borda I, Galán Gil G, Castillo Villegas D, Casanova Espinosa Á, Cano Jiménez E, Ojanguren Arranz I, Posada de la Paz M.

PUBMED DOI

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration. Arch Public Health. 2014 Oct 13;72(1):35

Taruscio D, Mollo E, Gainotti S, Posada de la Paz M, Bianchi F, Vittozzi L.

PUBMED DOI

Investigación