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Journal Articles (5)
Meeting Abstract (4)

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Investigative Ophthalmology & Visual Science (9)

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ARVO Annual Meeting Abstract (4)
Biochemistry and Molecular Biology (2)
Retina (2)
Genetics (1)

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Genetics (5)
Biochemistry and Molecular Biology (3)
Eye Anatomy and Disorders (2)
Retina (2)

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exons (3)
mutation (3)
retina (3)
retinitis pigmentosa (3)
autosomal recessive inheritance (2)
family (2)
genes (2)
genome (2)
mice (2)
phenotype (2)

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Retina July 2020

A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype

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Elena B. Domènech; Rosa Andrés; M. José López-Iniesta; Serena Mirra; Rocío García-Arroyo; Santiago Milla; Florentina Sava; Jordi Andilla; Pablo Loza-Álvarez; Pedro de la Villa; Roser Gonzàlez-Duarte; Gemma Marfany
TAGS: mice, retina, crispr, retinal degeneration, phenotype, photoreceptors, crispr-cas9, retinal cone
Invest. Ophthalmol. Vis. Sci.. 2020; 61(8):14. https://doi.org/10.1167/iovs.61.8.14

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2019

Gene-edited mouse models and human retinal organoids to study the function of CERKL , NR2E3 and ATXN3 genes in inherited retinal dystrophies

Gemma Marfany; Vasileios Toulis; Elena B. Domènech; Izarbe Aísa-Marín; Serena Mirra; Maria do Carmo Pereira da Costa; Slaven Erceg; Dunja Lukovic; Roser Gonzàlez-Duarte

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1760.

ARVO Annual Meeting Abstract June 2017

CERKL isoforms are differentially expressed in retinal cells

Roser Gonzalez-Duarte; Rosa Andrés; Elena B. Domenech; Alejandro Garanto; Mariona Esquerdo; Florentina Sava; Muna I Naash; Gemma Marfany

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):596.

ARVO Annual Meeting Abstract March 2012

Cerkl Knockdown Murine Model Shows Mild Affectation Of The Retinal Ganglion Cell Layer

Roser Gonzalez-Duarte; Alejandro Garanto; Javier Vicente-Tejedor; Marina Riera; Pedro de la Villa; Roman Blanco; Gemma Marfany

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):1620.

Genetics January 2012

Nonsense-Mediated Decay as the Molecular Cause for Autosomal Recessive Bestrophinopathy in Two Unrelated Families

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Esther Pomares; Anniken Burés-Jelstrup; Sheila Ruiz-Nogales; Borja Corcóstegui; Roser González-Duarte; Rafael Navarro
TAGS: autosomal recessive inheritance, family, mutation, reverse transcriptase polymerase chain reaction, phenotype, rna, messenger, codon, nonsense, electroretinography, homozygote, relationship - sibling
Invest. Ophthalmol. Vis. Sci.. 2012; 53(1):532-537. https://doi.org/10.1167/iovs.11-7964

Includes: Supplemental Content

Biochemistry and Molecular Biology July 2011

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

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Alejandro Garanto; Marina Riera; Esther Pomares; Jon Permanyer; Marta de Castro-Miró; Florentina Sava; Josep F. Abril; Gemma Marfany; Roser Gonzàlez-Duarte
TAGS: exons, genes, mice, protein isoforms, retina, retinitis pigmentosa, transcription, genetic, body tissue, genome, proteins
Invest. Ophthalmol. Vis. Sci.. 2011; 52(8):5202-5214. https://doi.org/10.1167/iovs.10-7101

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse

Gemma Marfany; Alejandro Garanto; Marina Riera; Esther Pomares; Jon Permanyer; Marta de Castro-Miró; Josep F. Abril; Roser Gonzalez-Duarte

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5404.

Retina May 2010

Autosomal Recessive Retinitis Pigmentosa with Early Macular Affectation Caused by Premature Truncation in PROM1

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Jon Permanyer; Rafael Navarro; James Friedman; Esther Pomares; Joaquín Castro-Navarro; Gemma Marfany; Anand Swaroop; Roser Gonzàlez-Duarte
TAGS: autosomal recessive inheritance, mutation, protein isoforms, retina, retinitis pigmentosa, family, genome, genes, screening, reverse transcriptase polymerase chain reaction
Invest. Ophthalmol. Vis. Sci.. 2010; 51(5):2656-2663. https://doi.org/10.1167/iovs.09-4857

Biochemistry and Molecular Biology November 2009

Identification of an Intronic Single-Point Mutation in RP2 as the Cause of Semidominant X-linked Retinitis Pigmentosa

PDF

Esther Pomares; Marina Riera; Joaquín Castro-Navarro; Ángeles Andrés-Gutiérrez; Roser Gonzàlez-Duarte; Gemma Marfany
TAGS: introns, mutation, retinitis pigmentosa, x-linked inheritance, exons, rna splicing
Invest. Ophthalmol. Vis. Sci.. 2009; 50(11):5107-5114. https://doi.org/10.1167/iovs.08-3208

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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