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Mechanistic Models of Signaling Pathways Reveal the Drug Action Mechanisms behind Gender-Specific Gene Expression for Cancer Treatments.

Submitted by jdopazo on Fri, 07/24/2020 - 11:31
Cubuk C, Can FE, Peña-Chilet M, Dopazo J. Mechanistic Models of Signaling Pathways Reveal the Drug Action Mechanisms behind Gender-Specific Gene Expression for Cancer Treatments. Cells. 2020;9(7). doi:10.3390/cells9071579.

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Submitted by rgarcia on Mon, 03/23/2020 - 17:02
Bogliolo M, Pujol R, Aza-Carmona M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.

Pazopanib for treatment of typical solitary fibrous tumours: a multicentre, single-arm, phase 2 trial.

Submitted by rgarcia on Mon, 03/23/2020 - 14:52
Martin-Broto J, Cruz J, Penel N, et al. Pazopanib for treatment of typical solitary fibrous tumours: a multicentre, single-arm, phase 2 trial. Lancet Oncol. 2020;21(3):456-466. doi:10.1016/S1470-2045(19)30826-5.

Molecular profiling related to poor prognosis in thyroid carcinoma. Combining gene expression data and biological information.

Submitted by iguillen on Thu, 07/04/2019 - 11:55
Montero-Conde C, Martín-Campos JM, Lerma E, et al. Molecular profiling related to poor prognosis in thyroid carcinoma. Combining gene expression data and biological information. Oncogene. 2008;27(11):1554-61. doi:10.1038/sj.onc.1210792.

Direct functional assessment of the composite phenotype through multivariate projection strategies.

Submitted by iguillen on Thu, 07/04/2019 - 11:47
Conesa A, Bro R, Garcia-Garcia F, et al. Direct functional assessment of the composite phenotype through multivariate projection strategies. Genomics. 2008;92(6):373-83. doi:10.1016/j.ygeno.2008.05.015.

Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies.

Submitted by iguillen on Fri, 06/28/2019 - 14:23
Medina I, Montaner D, Bonifaci N, et al. Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies. Nucleic Acids Res. 2009;37(Web Server issue):W340-4. doi:10.1093/nar/gkp481.

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Submitted by iguillen on Fri, 06/28/2019 - 13:56
Barragán I, Borrego S, Pieras JIgnacio, et al. Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat. 2010;31(11):E1772-800. doi:10.1002/humu.21334.

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Submitted by iguillen on Wed, 06/26/2019 - 13:28
Tort F, García-Silva MTeresa, Ferrer-Cortès X, et al. Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013;110(1-2):73-7. doi:10.1016/j.ymgme.2013.04.021.