Gil-Peña H - Search Results

1

Genetic Variation in the H19-IGF2 Cluster Might Confer Risk of Developing Impaired Renal Function.

Coto E, Díaz Corte C, Tranche S, Gómez J, Reguero JR, Alonso B, Iglesias S, Gil-Peña H, Yin X, Coto-Segura P. Coto E, et al. DNA Cell Biol. 2018 Jul;37(7):617-625. doi: 10.1089/dna.2017.4135. Epub 2018 Jun 11. DNA Cell Biol. 2018. PMID: 29889555

2

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.

Mejia-Gaviria N, Gil-Peña H, Coto E, Pérez-Menéndez TM, Santos F. Mejia-Gaviria N, et al. Orphanet J Rare Dis. 2010 Jan 14;5:1. doi: 10.1186/1750-1172-5-1. Orphanet J Rare Dis. 2010. PMID: 20074341 Free PMC article.

3

Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing.

Gómez J, Gil-Peña H, Santos F, Coto E, Arango A, Hernandez O, Rodríguez J, Nadal I, Cantos V, Chocrón S, Vergara I, Madrid Á, Vazquez C, González LE, Blanco F. Gómez J, et al. Pediatr Res. 2016 Mar;79(3):496-501. doi: 10.1038/pr.2015.243. Epub 2015 Nov 16. Pediatr Res. 2016. PMID: 26571219 Free article.

4

KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort.

Riobello C, Gómez J, Gil-Peña H, Tranche S, Reguero JR, de la Hera JM, Delgado E, Calvo D, Morís C, Santos F, Coto-Segura P, Iglesias S, Alonso B, Alvarez V, Coto E. Riobello C, et al. Mol Cell Endocrinol. 2016 May 15;427:86-91. doi: 10.1016/j.mce.2016.03.007. Epub 2016 Mar 9. Mol Cell Endocrinol. 2016. PMID: 26970180

5

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.

Gil-Peña H, Coto E, Santos F, Espino M, Cea Crespo JM, Chantzopoulos G, Komianou F, Gómez J, Alonso B, Iglesias S, Treard C, Vargas-Poussou R; Renaltube Group. Gil-Peña H, et al. Nefrologia. 2017 Jul-Aug;37(4):423-428. doi: 10.1016/j.nefro.2017.01.007. Epub 2017 Mar 18. Nefrologia. 2017. PMID: 28325561 Free article. English, Spanish.

6

Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT.

Coto E, Calvo D, Reguero JR, Morís C, Rubín JM, Díaz-Corte C, Gil-Peña H, Alosno B, Iglesias S, Gómez J. Coto E, et al. Epigenomics. 2017 Aug;9(8):1049-1057. doi: 10.2217/epi-2017-0024. Epub 2017 Jul 27. Epigenomics. 2017. PMID: 28749187

7

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.

Alonso-Varela M, Gil-Peña H, Coto E, Gómez J, Rodríguez J, Rodríguez-Rubio E, Santos F; RenalTube Group. Alonso-Varela M, et al. Pediatr Nephrol. 2018 Sep;33(9):1523-1529. doi: 10.1007/s00467-018-3965-8. Epub 2018 May 3. Pediatr Nephrol. 2018. PMID: 29725771

8

Salt-losing tubulopathy and chronic dermatitis.

Fernández-Fernández M, Gil-Peña H, Coto E, García Pérez N, Santos F. Fernández-Fernández M, et al. Kidney Int. 2018 Aug;94(2):433. doi: 10.1016/j.kint.2017.12.007. Kidney Int. 2018. PMID: 30031451 Free article. No abstract available.

9

The Interferon-induced transmembrane protein 3 gene (IFITM3) rs12252 C variant is associated with COVID-19.

Gómez J, Albaiceta GM, Cuesta-Llavona E, García-Clemente M, López-Larrea C, Amado-Rodríguez L, López-Alonso I, Melón S, Alvarez-Argüelles ME, Gil-Peña H, Vidal-Castiñeira JR, Corte-Iglesias V, Saiz ML, Alvarez V, Coto E. Gómez J, et al. Cytokine. 2021 Jan;137:155354. doi: 10.1016/j.cyto.2020.155354. Epub 2020 Oct 23. Cytokine. 2021. PMID: 33113474

10

Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity.

Cuesta-Llavona E, Gómez J, Albaiceta GM, Amado-Rodríguez L, García-Clemente M, Gutiérrez-Rodríguez J, López-Alonso I, Hermida T, Enríquez AI, Hernández-González C, Gil-Peña H, Domínguez-Garrido E, Pérez-Oliveira S, Alvarez V, López-Larrea C, Suarez-Alvarez B, Tranche S, Jimeno-Demuth FJ, Coto E. Cuesta-Llavona E, et al. Int Immunopharmacol. 2021 Sep;98:107825. doi: 10.1016/j.intimp.2021.107825. Epub 2021 Jun 2. Int Immunopharmacol. 2021. PMID: 34116286 Free PMC article.

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