Middle Aged | Page 2 | Plataforma Andaluza de Medicina Computacional

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

Submitted by iguillen on Tue, 06/11/2019 - 10:22

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, et al. Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. Gene. 2015;571(1):52-7. doi:10.1016/j.gene.2015.06.039.

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

Submitted by iguillen on Tue, 06/11/2019 - 10:21

Sevilla T, Sivera R, Martínez-Rubio D, et al. The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease. Eur J Neurol. 2015;22(12):1548-55. doi:10.1111/ene.12782.

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Submitted by iguillen on Tue, 06/11/2019 - 10:12

Sevilla T, Lupo V, Martínez-Rubio D, et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.

Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-small cell lung cancer.

Submitted by iguillen on Tue, 06/11/2019 - 10:08

Puchades-Carrasco L, Jantus-Lewintre E, Pérez-Rambla C, et al. Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-small cell lung cancer. Oncotarget. 2016;7(11):12904-16. doi:10.18632/oncotarget.7354.

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa.

Submitted by iguillen on Mon, 06/10/2019 - 12:08

Corton M, Avila-Fernández A, Campello L, et al. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016;6:35370. doi:10.1038/srep35370.

Pazopanib for treatment of advanced malignant and dedifferentiated solitary fibrous tumour: a multicentre, single-arm, phase 2 trial.

Submitted by iguillen on Thu, 06/06/2019 - 12:56

Martin-Broto J, Stacchiotti S, Lopez-Pousa A, et al. Pazopanib for treatment of advanced malignant and dedifferentiated solitary fibrous tumour: a multicentre, single-arm, phase 2 trial. Lancet Oncol. 2019;20(1):134-144. doi:10.1016/S1470-2045(18)30676-4.

The modular network structure of the mutational landscape of Acute Myeloid Leukemia.

Submitted by jdopazo on Fri, 11/02/2018 - 11:33

Ibáñez M, Carbonell-Caballero J, Such E, et al. The modular network structure of the mutational landscape of Acute Myeloid Leukemia. PLoS One. 2018;13(10):e0202926. doi:10.1371/journal.pone.0202926.

GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.

Submitted by jdopazo on Tue, 09/26/2017 - 10:39

Roca-Ayats N, Balcells S, Garcia-Giralt N, et al. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. N Engl J Med. 2017;376(18):1794-1795. doi:10.1056/NEJMc1612804.

Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis.

Submitted by jdopazo on Tue, 09/26/2017 - 10:28

Puig-Butille JAnton, Gimenez-Xavier P, Visconti A, et al. Genomic expression differences between cutaneous cells from red hair color individuals and black hair color individuals based on bioinformatic analysis. Oncotarget. 2017;8(7):11589-11599. doi:10.18632/oncotarget.14140.