Cargando…

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy

Inherited retinal degenerations are the leading cause of blindness in the working population. X-linked retinitis pigmentosa (XLRP), caused by mutations in the Retinitis pigmentosa GTPase regulator (RPGR) gene is one of the more severe forms, and female carriers of RPGR mutations have a variable pres...

Descripción completa

Detalles Bibliográficos
Autores principales:	Nanda, Anika, Salvetti, Anna P., Clouston, Penny, Downes, Susan M., MacLaren, Robert E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6316369/ https://www.ncbi.nlm.nih.gov/pubmed/30567410 http://dx.doi.org/10.3390/genes9120643

Ejemplares similares

Microperimetry as an Outcome Measure in RPGR-associated Retinitis Pigmentosa Clinical Trials
por: Taylor, Laura J., et al.
Publicado: (2023)

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations
por: Usman, Muhammad, et al.
Publicado: (2023)

Molecular Strategies for RPGR Gene Therapy
por: Cehajic Kapetanovic, Jasmina, et al.
Publicado: (2019)

Low Luminance Visual Acuity and Low Luminance Deficit in Choroideremia and RPGR-Associated Retinitis Pigmentosa
por: Wood, Laura J., et al.
Publicado: (2021)

Characterizing Visual Fields in RPGR Related Retinitis Pigmentosa Using Octopus Static-Automated Perimetry
por: Buckley, Thomas M. W., et al.
Publicado: (2022)

Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations
por: von Krusenstiern, Lenore, et al.
Publicado: (2023)

Retinal gene therapy in X-linked retinitis pigmentosa caused by mutations in RPGR: Results at 6 months in a first in human clinical trial
por: Cehajic-Kapetanovic, Jasmina, et al.
Publicado: (2020)

Rare Co-Occurrence of Visual Snow in a Female Carrier With RPGR(ORF15)-Associated Retinal Disorder
por: Tuekprakhon, Aekkachai, et al.
Publicado: (2021)

Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration
por: Cehajic-Kapetanovic, Jasmina, et al.
Publicado: (2019)

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL
por: Downes, Susan M., et al.
Publicado: (2020)

Impaired glutamylation of RPGR(ORF15) underlies the cone-dominated phenotype associated with truncating distal ORF15 variants
por: Cehajic-Kapetanovic, Jasmina, et al.
Publicado: (2022)

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
por: Buckley, Thomas M.W., et al.
Publicado: (2022)

Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation
por: Yang, Liping, et al.
Publicado: (2014)

Candidate Genetic Modifiers for RPGR Retinal Degeneration
por: Appelbaum, Tatyana, et al.
Publicado: (2020)

Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa
por: Fischer, M. Dominik, et al.
Publicado: (2017)

Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa
por: Bregnhøj, Jesper, et al.
Publicado: (2014)

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes
por: Feenstra, Helena M., et al.
Publicado: (2022)

Technique of retinal gene therapy: delivery of viral vector into the subretinal space
por: Xue, K, et al.
Publicado: (2017)

Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers
por: Roshandel, Danial, et al.
Publicado: (2023)

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
por: Kirkby, Jennifer, et al.
Publicado: (2023)

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype
por: Nowomiejska, Katarzyna, et al.
Publicado: (2023)

Assessment of Scotopic Function in Rod–Cone Inherited Retinal Degeneration With the Scotopic Macular Integrity Assessment
por: Jolly, Jasleen K., et al.
Publicado: (2023)

Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa
por: Foote, Katharina G., et al.
Publicado: (2020)

Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa
por: Zhang, Zhimeng, et al.
Publicado: (2019)

Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa
por: De Silva, Samantha R., et al.
Publicado: (2023)

Molecular studies of phenotype variation in canine RPGR-XLPRA1
por: Appelbaum, Tatyana, et al.
Publicado: (2016)

Analysis of imaging biomarkers and retinal nerve fiber layer thickness in RPGR-associated retinitis pigmentosa
por: Birtel, Theresa H., et al.
Publicado: (2021)

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition
por: Rao, Kollu N., et al.
Publicado: (2015)

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients
por: Tuupanen, Sari, et al.
Publicado: (2022)

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
por: Di Iorio, Valentina, et al.
Publicado: (2020)

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR
por: Kortüm, Friederike, et al.
Publicado: (2021)

Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy
por: Hadalin, Vlasta, et al.
Publicado: (2023)

A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics
por: Jolly, Jasleen K., et al.
Publicado: (2016)

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
por: Georgiou, Michalis, et al.
Publicado: (2021)

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype
por: Simunovic, Matthew P., et al.
Publicado: (2016)

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa
por: Jiang, Jingjing, et al.
Publicado: (2017)

RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3′-end of ORF15
por: Benson, Matthew D., et al.
Publicado: (2023)

 The Application of CRISPR/Cas9 for the Treatment of Retinal Diseases 
por: Peddle, Caroline F., et al.
Publicado: (2017)

The Role of RPGR and Its Interacting Proteins in Ciliopathies
por: Patnaik, Sarita Rani, et al.
Publicado: (2015)

Impact of Vital Dyes on Cell Viability and Transduction Efficiency of AAV Vectors Used in Retinal Gene Therapy Surgery: An In Vitro and In Vivo Analysis
por: Salvetti, Anna P., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_g00knvbn8phjlpmnfqctqkb5iv