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Results: 1 to 20 of 234

1.

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

Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós C.

Eur J Neurol. 2015 Jul 24. doi: 10.1111/ene.12782. [Epub ahead of print]

PMID:
26204789
2.

Integrating transcriptomic and metabolomic analysis to understand natural leaf senescence in sunflower.

Moschen S, Bengoa Luoni S, Di Rienzo JA, Caro MD, Tohge T, Watanabe M, Hollmann J, González S, Rivarola M, García-García F, Dopazo J, Hopp HE, Hoefgen R, Fernie AR, Paniego N, Fernández P, Heinz RA.

Plant Biotechnol J. 2015 Jul 1. doi: 10.1111/pbi.12422. [Epub ahead of print]

PMID:
26132509
3.

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

Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Garcia-Garcia F, Duran M, Dopazo J, Estivill X, Milà M.

Gene. 2015 Jun 18. pii: S0378-1119(15)00748-9. doi: 10.1016/j.gene.2015.06.039. [Epub ahead of print]

PMID:
26095811
4.

A parallel and sensitive software tool for methylation analysis on multicore platforms.

Tárraga J, Pérez M, Orduña JM, Duato J, Medina I, Dopazo J.

Bioinformatics. 2015 Jun 10. pii: btv357. [Epub ahead of print]

PMID:
26069264
5.

Babelomics 5.0: functional interpretation for new generations of genomic data.

Alonso R, Salavert F, Garcia-Garcia F, Carbonell-Caballero J, Bleda M, Garcia-Alonso L, Sanchis-Juan A, Perez-Gil D, Marin-Garcia P, Sanchez R, Cubuk C, Hidalgo MR, Amadoz A, Hernansaiz-Ballesteros RD, Alemán A, Tarraga J, Montaner D, Medina I, Dopazo J.

Nucleic Acids Res. 2015 Jul 1;43(W1):W117-21. doi: 10.1093/nar/gkv384. Epub 2015 Apr 20.

6.

BRCA1 Alternative splicing landscape in breast tissue samples.

Romero A, García-García F, López-Perolio I, Ruiz de Garibay G, García-Sáenz JA, Garre P, Ayllón P, Benito E, Dopazo J, Díaz-Rubio E, Caldés T, de la Hoya M.

BMC Cancer. 2015 Apr 3;15:219. doi: 10.1186/s12885-015-1145-9.

7.

Assessing the impact of mutations found in next generation sequencing data over human signaling pathways.

Hernansaiz-Ballesteros RD, Salavert F, Sebastián-León P, Alemán A, Medina I, Dopazo J.

Nucleic Acids Res. 2015 Jul 1;43(W1):W270-5. doi: 10.1093/nar/gkv349. Epub 2015 Apr 16.

8.

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C.

Hum Mol Genet. 2015 Jul 15;24(14):4037-48. doi: 10.1093/hmg/ddv140. Epub 2015 Apr 16.

PMID:
25882705
9.

A Phylogenetic Analysis of 34 Chloroplast Genomes Elucidates the Relationships between Wild and Domestic Species within the Genus Citrus.

Carbonell-Caballero J, Alonso R, Ibañez V, Terol J, Talon M, Dopazo J.

Mol Biol Evol. 2015 Aug;32(8):2015-35. doi: 10.1093/molbev/msv082. Epub 2015 Apr 14.

10.

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

Pozo MG, Bravo-Gil N, Méndez-Vidal C, Montero-de-Espinosa I, Millán JM, Dopazo J, Borrego S, Antiñolo G.

Am J Med Genet A. 2015 Jul;167(7):1597-600. doi: 10.1002/ajmg.a.37003. Epub 2015 Mar 30.

PMID:
25823529
11.

Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation.

Terol J, Ibañez V, Carbonell J, Alonso R, Estornell LH, Licciardello C, Gut IG, Dopazo J, Talon M.

BMC Genomics. 2015 Feb 13;16:69. doi: 10.1186/s12864-015-1280-3.

12.

Fast inexact mapping using advanced tree exploration on backward search methods.

Salavert J, Tomás A, Tárraga J, Medina I, Dopazo J, Blanquer I.

BMC Bioinformatics. 2015 Jan 28;16:18. doi: 10.1186/s12859-014-0438-3.

13.

Therapeutic targets for olive pollen allergy defined by gene markers modulated by Ole e 1-derived peptides.

Calzada D, Aguerri M, Baos S, Montaner D, Mata M, Dopazo J, Quiralte J, Florido F, Lahoz C, Cárdaba B.

Mol Immunol. 2015 Apr;64(2):252-61. doi: 10.1016/j.molimm.2014.12.002. Epub 2014 Dec 29.

PMID:
25553522
14.

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

González-del Pozo M, Méndez-Vidal C, Bravo-Gil N, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.

PLoS One. 2014 Dec 29;9(12):e116176. doi: 10.1371/journal.pone.0116176. eCollection 2014. Erratum in: PLoS One. 2015;10(3):e0120166.

15.

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.

Méndez-Vidal C, Bravo-Gil N, González-Del Pozo M, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.

BMC Genet. 2014 Dec 14;15:143. doi: 10.1186/s12863-014-0143-2.

16.

The Activation of the Sox2 RR2 Pluripotency Transcriptional Reporter in Human Breast Cancer Cell Lines is Dynamic and Labels Cells with Higher Tumorigenic Potential.

Iglesias JM, Leis O, Pérez Ruiz E, Gumuzio Barrie J, Garcia-Garcia F, Aduriz A, Beloqui I, Hernandez-Garcia S, Lopez-Mato MP, Dopazo J, Pandiella A, Menendez JA, Martin AG.

Front Oncol. 2014 Nov 4;4:308. doi: 10.3389/fonc.2014.00308. eCollection 2014.

17.

Permanent cardiac sarcomere changes in a rabbit model of intrauterine growth restriction.

Torre I, González-Tendero A, García-Cañadilla P, Crispi F, García-García F, Bijnens B, Iruretagoyena I, Dopazo J, Amat-Roldán I, Gratacós E.

PLoS One. 2014 Nov 17;9(11):e113067. doi: 10.1371/journal.pone.0113067. eCollection 2014.

18.

PTMcode v2: a resource for functional associations of post-translational modifications within and between proteins.

Minguez P, Letunic I, Parca L, Garcia-Alonso L, Dopazo J, Huerta-Cepas J, Bork P.

Nucleic Acids Res. 2015 Jan;43(Database issue):D494-502. doi: 10.1093/nar/gku1081. Epub 2014 Oct 31.

19.

Understanding disease mechanisms with models of signaling pathway activities.

Sebastian-Leon P, Vidal E, Minguez P, Conesa A, Tarazona S, Amadoz A, Armero C, Salavert F, Vidal-Puig A, Montaner D, Dopazo J.

BMC Syst Biol. 2014 Oct 25;8:121. doi: 10.1186/s12918-014-0121-3.

20.

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

Garcia-Alonso L, Jiménez-Almazán J, Carbonell-Caballero J, Vela-Boza A, Santoyo-López J, Antiñolo G, Dopazo J.

Mol Syst Biol. 2014 Sep 26;10:752. doi: 10.15252/msb.20145222.

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