1 - 25 of 51 results for author:"Perez B." in Literature citations
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| Akt2 interacts with Snail1 in the E-cadherin promoter. Villagrasa P., Diaz V.M., Vinas-Castells R., Peiro S., Del Valle-Perez B., Dave N., Rodriguez-Asiain A., Casal J.I., Lizcano J.M., Dunach M. et al. Oncogene 31:4022-4033(2012) · Mapped (16) |
| Wnt controls the transcriptional activity of Kaiso through CK1epsilon-dependent phosphorylation of p120-catenin. Del Valle-Perez B., Casagolda D., Lugilde E., Valls G., Codina M., Dave N., de Herreros A.G., Dunach M. J. Cell. Sci. 124:2298-2309(2011) · Mapped (7) |
| Coordinated action of CK1 isoforms in canonical Wnt signaling. Del Valle-Perez B., Arques O., Vinyoles M., de Herreros A.G., Dunach M. Mol. Cell. Biol. 31:2877-2888(2011) · Mapped (3) |
| Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. Vega A.I., Perez-Cerda C., Abia D., Gamez A., Briones P., Artuch R., Desviat L.R., Ugarte M., Perez B. J. Inherit. Metab. Dis. 34:929-939(2011) · Mapped (7) |
| CYP2D6 genotype and debrisoquine hydroxylation phenotype in Cubans and Nicaraguans. Llerena A., Dorado P., Ramirez R., Gonzalez I., Alvarez M., Penas-Lledo E.M., Perez B., Calzadilla L.R. Pharmacogenomics J. 12:176-183(2012) · Mapped (18) |
| A p120-catenin-CK1epsilon complex regulates Wnt signaling. Casagolda D., Del Valle-Perez B., Valls G., Lugilde E., Vinyoles M., Casado-Vela J., Solanas G., Batlle E., Reynolds A.B., Casal J.I. et al. J. Cell. Sci. 123:2621-2631(2010) · Mapped (13) |
| Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. Jorge-Finnigan A., Aguado C., Sanchez-Alcudia R., Abia D., Richard E., Merinero B., Gamez A., Banerjee R., Desviat L.R., Ugarte M. et al. Hum. Mutat. 31:1033-1042(2010) · Mapped (3) |
| Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. Perez B., Mechinaud F., Galambrun C., Ben Romdhane N., Isidor B., Philip N., Derain-Court J., Cassinat B., Lachenaud J., Kaltenbach S. et al. J. Med. Genet. 47:686-691(2010) · Mapped (1) |
| Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X. Dahri S., Desviat L.R., Perez B., Leal F., Ugarte M., Chabraoui L. Clin. Biochem. 43:76-81(2010) · Mapped (6) |
| Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). Richard E., Jorge-Finnigan A., Garcia-Villoria J., Merinero B., Desviat L.R., Gort L., Briones P., Leal F., Perez-Cerda C., Ribes A. et al. Hum. Mutat. 30:1558-1566(2009) · Mapped (1) |
| Association of GHRd3 variant of growth hormone receptor gene with autoimmunity in type 1 diabetes. Garcia D D., Oyarzun A A., Angel B B., Carrasco P E., Perez B F. Rev Med Chil 137:609-616(2009) · Mapped (4) |
| The Missense p.S231F phenylalanine hydroxylase gene mutation causes complete loss of enzymatic activity in vitro. Stojiljkovic M., Perez B., Desviat L.R., Aguado C., Ugarte M., Pavlovic S. Protein J. 28:294-299(2009) · Mapped (6) |
| [+49 A/G genetic polymorphism of cytotoxic T lymphocyte associated antigen 4 (CTLA-4) in type 7 diabetes: association with autoantibodies and cytokines]. Perez B F., Codner D E., Angel B B., Balic N I., Carrasco P E. Rev Med Chil 137:321-328(2009) · Mapped (6) |
| Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Vega A.I., Perez-Cerda C., Desviat L.R., Matthijs G., Ugarte M., Perez B. Hum. Mutat. 30:795-803(2009) · Mapped (7) |
| High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. Desviat L.R., Sanchez-Alcudia R., Perez B., Perez-Cerda C., Navarrete R., Vijzelaar R., Ugarte M. Mol. Genet. Metab. 96:171-176(2009) · Mapped (3) |
| The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-L-cysteine. Steventon G.B., Mitchell S.C., Perez B., Desviat L.R., Ugarte M. Mol. Genet. Metab. 96:27-31(2009) · Mapped (6) |
| Relation between CYP2D6 phenotype and genotype and personality in healthy volunteers. Gonzalez I., Penas-Lledo E.M., Perez B., Dorado P., Alvarez M., LLerena A. Pharmacogenomics 9:833-840(2008) · Mapped (18) |
| Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population. Martinez-Frias M.L., Bermejo E., Perez B., Desviat L.R., Castro M., Leal F., Mansilla E., Martinez-Fernandez M.L., Rodriguez-Pinilla E., Rodriguez L. et al. Med Clin (Barc) 131:81-88(2008) · Mapped (12) |
| Genetic variation within adrenergic pathways determines in vivo effects of presynaptic stimulation in humans. Fung M.M., Nguyen C., Mehtani P., Salem R.M., Perez B., Thomas B., Das M., Schork N.J., Mahata S.K., Ziegler M.G. et al. Circulation 117:517-525(2008) · Mapped (16) |
| Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Rincon A., Aguado C., Desviat L.R., Sanchez-Alcudia R., Ugarte M., Perez B. Am. J. Hum. Genet. 81:1262-1270(2007) · Mapped (6) |
| Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. Merinero B., Perez B., Perez-Cerda C., Rincon A., Desviat L.R., Martinez M.A., Sala P.R., Garcia M.J., Aldamiz-Echevarria L., Campos J. et al. J. Inherit. Metab. Dis. 31:55-66(2008) · Mapped (9) |
| Study of debrisoquine hydroxylation polymorphism (CYP2D6) in the Cuban population compared to Spaniards. Gonzalez I., Perez B., Alvarez M., Dorado P., Llerena A. Med Clin (Barc) 128:772-774(2007) · Mapped (18) |
| Association between tumor necrosis factor-alpha promoter polymorphisms and type 2 diabetes and obesity in Chilean elderly women. Santos M J.L., Patino G A., Angel B B., Martinez H J.A., Perez B F., Villarroel B A.C., Sierrasesumaga A L., Albala B C. Rev Med Chil 134:1099-1106(2006) · Mapped (6) |
| New splicing mutations in propionic acidemia. Desviat L.R., Clavero S., Perez-Cerda C., Navarrete R., Ugarte M., Perez B. J. Hum. Genet. 51:992-997(2006) · Mapped (10) |
| Genetic analysis of the requirement for flp-2, tadV, and rcpB in Actinobacillus actinomycetemcomitans biofilm formation. Perez B.A., Planet P.J., Kachlany S.C., Tomich M., Fine D.H., Figurski D.H. J. Bacteriol. 188:6361-6375(2006) · UniProtKB (6) |