Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15
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Title
Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15
Authors
Keywords
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Journal
Genes
Volume 12, Issue 4, Pages 499
Publisher
MDPI AG
Online
2021-03-30
DOI
10.3390/genes12040499
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Related references
Note: Only part of the references are listed.- RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features
- (2020) Xuan-Thanh-An Nguyen et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
- (2020) Jasmina Cehajic-Kapetanovic et al. NATURE MEDICINE
- The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
- (2020) Samantha R. De Silva et al. PROGRESS IN RETINAL AND EYE RESEARCH
- RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)
- (2020) Laura Moreno-Leon et al. HUMAN MOLECULAR GENETICS
- Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP
- (2019) Qihong Zhang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
- (2019) Jasdeep S Gill et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients
- (2018) Luiz H. Lima et al. OPHTHALMIC GENETICS
- CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES
- (2018) Mays Talib et al. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
- Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
- (2018) Johannes Birtel et al. Scientific Reports
- ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition
- (2018) Sumaya Alkanderi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models
- (2017) Roly Megaw et al. Nature Communications
- A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290
- (2017) Susanne Roosing et al. Genes
- RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options
- (2016) James J L Tee et al. BRITISH JOURNAL OF OPHTHALMOLOGY
- Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR
- (2016) Kollu N. Rao et al. HUMAN MOLECULAR GENETICS
- Arf-like Protein 3 (ARL3) Regulates Protein Trafficking and Ciliogenesis in Mouse Photoreceptors
- (2016) Christin Hanke-Gogokhia et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis
- (2016) H. Abouzeid et al. KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
- Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused byTTLL5mutations
- (2016) Xun Sun et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- RPGR: Its role in photoreceptor physiology, human disease, and future therapies
- (2015) Roly D. Megaw et al. EXPERIMENTAL EYE RESEARCH
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Visual Function in Carriers of X-Linked Retinitis Pigmentosa
- (2015) Jason Comander et al. OPHTHALMOLOGY
- The Role of RPGR and Its Interacting Proteins in Ciliopathies
- (2015) Sarita Rani Patnaik et al. Journal of Ophthalmology
- Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy
- (2014) Panagiotis I. Sergouniotis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ISCEV Standard for full-field clinical electroretinography (2015 update)
- (2014) Daphne L. McCulloch et al. DOCUMENTA OPHTHALMOLOGICA
- Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation
- (2014) Liping Yang et al. PLoS One
- Quantifying single nucleotide variant detection sensitivity in exome sequencing
- (2013) Alison M Meynert et al. BMC BIOINFORMATICS
- The interplay between RPGR, PDEδ and Arl2/3 regulate the ciliary targeting of farnesylated cargo
- (2013) Denise Wätzlich et al. EMBO REPORTS
- ISCEV standard for clinical pattern electroretinography (PERG): 2012 update
- (2012) Michael Bach et al. DOCUMENTA OPHTHALMOLOGICA
- Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2
- (2012) Ana Fakin et al. VISION RESEARCH
- Clinical course of cone dystrophy caused by mutations in the RPGR gene
- (2011) Alberta A. H. J. Thiadens et al. GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
- The role of RPGR in cilia formation and actin stability
- (2011) Milica Gakovic et al. HUMAN MOLECULAR GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- SERIAL IMAGING AND STRUCTURE-FUNCTION CORRELATES OF HIGH-DENSITY RINGS OF FUNDUS AUTOFLUORESCENCE IN RETINITIS PIGMENTOSA
- (2011) Anthony G Robson et al. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
- Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms
- (2011) H. Patil et al. Biology Open
- Correlation of fundus autofluorescence with photoreceptor morphology and functional changes in eyes with retinitis pigmentosa
- (2010) Taku Wakabayashi et al. ACTA OPHTHALMOLOGICA
- Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration
- (2010) C. A. Murga-Zamalloa et al. HUMAN MOLECULAR GENETICS
- A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
- (2009) Hemant Khanna et al. NATURE GENETICS
- The RCC1 superfamily: From genes, to function, to disease
- (2008) Ouadah Hadjebi et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Correlation between visual function and photoreceptor inner/outer segment junction in patients with retinitis pigmentosa
- (2008) S Aizawa et al. EYE
- The human retinitis pigmentosa GTPase regulator gene variant database
- (2008) Xinhua Shu et al. HUMAN MUTATION
- Highly efficient retinal metabolism in cones
- (2008) S. Miyazono et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked Retinitis Pigmentosa and associated ciliopathies
- (2007) Shirley He et al. VISION RESEARCH
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