Ballana E - Search Results

1

SAMHD1 expression modulates innate immune activation and correlates with ovarian cancer prognosis.

Gutiérrez-Chamorro L, Felip E, Bernat-Peguera A, Ezeonwumelu IJ, Teruel I, Martínez-Cardús A, Clotet B, Riveira-Muñoz E, Romeo M, Margelí M, Ballana E. Gutiérrez-Chamorro L, et al. Among authors: ballana e. Front Immunol. 2023 Feb 9;14:1112761. doi: 10.3389/fimmu.2023.1112761. eCollection 2023. Front Immunol. 2023. PMID: 36845138 Free PMC article.

2

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Guan MX, et al. Among authors: ballana e. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.

3

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.

González JR, Wang W, Ballana E, Estivill X. González JR, et al. Among authors: ballana e. Hum Mutat. 2006 Nov;27(11):1135-42. doi: 10.1002/humu.20390. Hum Mutat. 2006. PMID: 16941638 Free PMC article.

4

Polymorphic LEDGF/p75 variants support efficient HIV-1 infection ex vivo.

Koh Y, Ballana E, Este J, Engelman A. Koh Y, et al. Among authors: ballana e. AIDS. 2013 Feb 20;27(4):665-7. doi: 10.1097/QAD.0b013e32835af34c. AIDS. 2013. PMID: 23364444 Free PMC article. No abstract available.

5

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

Ballana E, Morales E, Rabionet R, Montserrat B, Ventayol M, Bravo O, Gasparini P, Estivill X. Ballana E, et al. Biochem Biophys Res Commun. 2006 Mar 24;341(4):950-7. doi: 10.1016/j.bbrc.2006.01.049. Epub 2006 Jan 24. Biochem Biophys Res Commun. 2006. PMID: 16458854

6

Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.

Ballana E, Govea N, de Cid R, Garcia C, Arribas C, Rosell J, Estivill X. Ballana E, et al. Hum Mutat. 2008 Feb;29(2):248-57. doi: 10.1002/humu.20639. Hum Mutat. 2008. PMID: 17999439

7

Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.

Bravo O, Ballana E, Estivill X. Bravo O, et al. Among authors: ballana e. Biochem Biophys Res Commun. 2006 Jun 2;344(2):511-6. doi: 10.1016/j.bbrc.2006.03.143. Epub 2006 Mar 30. Biochem Biophys Res Commun. 2006. PMID: 16631122 Clinical Trial.

8

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F. Del Castillo I, et al. Among authors: ballana e. Am J Hum Genet. 2003 Dec;73(6):1452-8. doi: 10.1086/380205. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14571368 Free PMC article.

9

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.

Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P. Donaudy F, et al. Among authors: ballana e. J Med Genet. 2006 Feb;43(2):157-61. doi: 10.1136/jmg.2005.032086. Epub 2005 Jun 1. J Med Genet. 2006. PMID: 15930085 Free PMC article.

10

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

Ballana E, Mercader JM, Fischel-Ghodsian N, Estivill X. Ballana E, et al. BMC Med Genet. 2007 Dec 21;8:81. doi: 10.1186/1471-2350-8-81. BMC Med Genet. 2007. PMID: 18154640 Free PMC article.

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