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Your search keyword '"Pomares E"' showing total 4 results
Start Over Author "Pomares E" Publisher association for research in vision and ophthalmology
4 results on '"Pomares E"'

1. Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families

Author

Pomares E, Burés-Jelstrup A, Ruiz-Nogales S, Corcóstegui B, Gonzalez R, and Navarro R

Subjects
cardiovascular diseases, urologic and male genital diseases, female genital diseases and pregnancy complications
Abstract

To characterize the molecular basis of two novel BEST1 mutations causing autosomal recessive bestrophinopathy (ARB). Strong evidence argues in favor of the dominant negative effects of most autosomal dominantly inherited mutations, whereas there is only weak support for the molecular basis of the ARB phenotype.

Published
2012

2. High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse

Author

Garanto A, Riera M, Pomares E, Permanyer J, De-Castro M, Sava F, Abril JF, Marfany G, and Gonzalez R

Abstract

To shed light on the pathogenicity of the mutations in the retinitis pigmentosa gene CERKL, the authors aimed to characterize its transcriptional repertoire and focused on the use of distinct promoters and alternative splicing in human and mouse tissues.

Published
2011

3. Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1

Author

Permanyer J, Navarro R, Friedman J, Pomares E, Castro-Navarro J, Marfany G, Swaroop A, and Gonzalez R

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, sense organs, eye diseases
Abstract

To identify the genetic basis of a large consanguineous Spanish pedigree affected with autosomal recessive retinitis pigmentosa (arRP) with premature macular atrophy and myopia.

Published
2010

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