Rodríguez-Rey JC - Search Results

1

The g.763G>C SNP of the bovine FASN gene affects its promoter activity via Sp-mediated regulation: implications for the bovine lactating mammary gland.

Ordovás L, Roy R, Pampín S, Zaragoza P, Osta R, Rodríguez-Rey JC, Rodellar C. Ordovás L, et al. Physiol Genomics. 2008 Jul 15;34(2):144-8. doi: 10.1152/physiolgenomics.00043.2008. Epub 2008 May 13. Physiol Genomics. 2008. PMID: 18477667

2

Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

De Castro-Orós I, Pampín S, Bolado-Carrancio A, De Cubas A, Palacios L, Plana N, Puzo J, Martorell E, Stef M, Masana L, Civeira F, Rodríguez-Rey JC, Pocoví M. De Castro-Orós I, et al. Hum Mutat. 2011 Aug;32(8):868-72. doi: 10.1002/humu.21520. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21538688

3

Promoter variant -204A > C of the cholesterol 7α-hydroxylase gene: association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells.

De Castro-Orós I, Pampín S, Cofán M, Mozas P, Pintó X, Salas-Salvadó J, Rodríguez-Rey JC, Ros E, Civeira F, Pocoví M. De Castro-Orós I, et al. Clin Nutr. 2011 Apr;30(2):239-46. doi: 10.1016/j.clnu.2010.07.020. Epub 2010 Sep 29. Clin Nutr. 2011. PMID: 20884100 Clinical Trial.

4

Functional analysis of regulatory single-nucleotide polymorphisms.

Pampín S, Rodríguez-Rey JC. Pampín S, et al. Curr Opin Lipidol. 2007 Apr;18(2):194-8. doi: 10.1097/MOL.0b013e3280145093. Curr Opin Lipidol. 2007. PMID: 17353669 Review.

5

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

Alfonso P, Pampín S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M. Alfonso P, et al. Clin Chim Acta. 2011 Jan 30;412(3-4):365-9. doi: 10.1016/j.cca.2010.11.013. Epub 2010 Nov 16. Clin Chim Acta. 2011. PMID: 21087600

6

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations.

Alfonso P, Pampín S, Estrada J, Rodríguez-Rey JC, Giraldo P, Sancho J, Pocoví M. Alfonso P, et al. Blood Cells Mol Dis. 2005 Sep-Oct;35(2):268-76. doi: 10.1016/j.bcmd.2005.05.007. Blood Cells Mol Dis. 2005. PMID: 16039881

7

A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.

De Castro-Orós I, Pérez-López J, Mateo-Gallego R, Rebollar S, Ledesma M, León M, Cofán M, Casasnovas JA, Ros E, Rodríguez-Rey JC, Civeira F, Pocoví M. De Castro-Orós I, et al. BMC Med Genomics. 2014 Apr 7;7:17. doi: 10.1186/1755-8794-7-17. BMC Med Genomics. 2014. PMID: 24708769 Free PMC article.

8

Ovine HSP90AA1 gene promoter: functional study and epigenetic modifications.

Salces-Ortiz J, González C, Bolado-Carrancio A, Rodríguez-Rey JC, Calvo JH, Muñoz R, Serrano MM. Salces-Ortiz J, et al. Cell Stress Chaperones. 2015 Nov;20(6):1001-12. doi: 10.1007/s12192-015-0629-5. Epub 2015 Aug 8. Cell Stress Chaperones. 2015. PMID: 26253285 Free PMC article.

9

A mutation (-49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia.

Mozas P, Galetto R, Albajar M, Ros E, Pocoví M, Rodríguez-Rey JC. Mozas P, et al. J Lipid Res. 2002 Jan;43(1):13-8. J Lipid Res. 2002. PMID: 11792717 Free article.

10

Characterization of the promoter of the mouse c-Jun NH2-terminal/stress-activated protein kinase alpha gene.

Callejo AI, Casanova E, Calvo P, Galetto R, Rodríguez-Rey JC, Chinchetru MA. Callejo AI, et al. Biochim Biophys Acta. 2004 Nov 24;1681(1):47-52. doi: 10.1016/j.bbaexp.2004.10.003. Biochim Biophys Acta. 2004. PMID: 15566943

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