Mutation | Page 2 | Plataforma Andaluza de Medicina Computacional

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

Submitted by iguillen on Tue, 06/18/2019 - 11:25

del Pozo MGonzález-, Borrego S, Barragán I, et al. Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. PLoS One. 2011;6(12):e27894. doi:10.1371/journal.pone.0027894.

Early transcriptional defense responses in Arabidopsis cell suspension culture under high-light conditions.

Submitted by iguillen on Tue, 06/18/2019 - 11:22

González-Pérez S, Gutiérrez J, Garcia-Garcia F, et al. Early transcriptional defense responses in Arabidopsis cell suspension culture under high-light conditions. Plant Physiol. 2011;156(3):1439-56. doi:10.1104/pp.111.177766.

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.

Submitted by iguillen on Tue, 06/18/2019 - 11:13

Heyn H, Vidal E, Sayols S, et al. Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics. 2012;7(6):542-50. doi:10.4161/epi.20523.

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing.

Submitted by iguillen on Tue, 06/18/2019 - 11:11

Medina I, De Maria A, Bleda M, et al. VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing. Nucleic Acids Res. 2012;40(Web Server issue):W54-8. doi:10.1093/nar/gks572.

The role of the interactome in the maintenance of deleterious variability in human populations.

Submitted by iguillen on Mon, 06/17/2019 - 13:34

García-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, et al. The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.

Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

Submitted by iguillen on Mon, 06/17/2019 - 12:37

del Pozo MGonzález-, Méndez-Vidal C, Bravo-Gil N, et al. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PLoS One. 2014;9(12):e116176. doi:10.1371/journal.pone.0116176.

A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces.

Submitted by iguillen on Tue, 06/11/2019 - 10:23

Porta-Pardo E, García-Alonso L, Hrabe T, Dopazo J, Godzik A. A Pan-Cancer Catalogue of Cancer Driver Protein Interaction Interfaces. PLoS Comput Biol. 2015;11(10):e1004518. doi:10.1371/journal.pcbi.1004518.

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.

The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations.

Submitted by iguillen on Tue, 06/11/2019 - 10:18

Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.