相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site
Lisa M. Riedmayr et al.
HUMAN MOLECULAR GENETICS (2020)
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery
Serena G. Giannelli et al.
HUMAN MOLECULAR GENETICS (2018)
The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy
Dimitra Athanasiou et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2018)
Mutation-independent rhodopsin gene therapy by knockdown and replacement with a single AAV vector
Artur V. Cideciyan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa
Pingjuan Li et al.
CRISPR JOURNAL (2018)
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations
Alexander Sumaroka et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy
Yuxin Zhang et al.
SCIENTIFIC REPORTS (2017)
Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L/M Opsin Interchange Mutations
Scott H. Greenwald et al.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2017)
Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin
Sundaramoorthy Srinivasan et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2017)
Hydrogen/Deuterium Exchange Mass Spectrometry of Human Green Opsin Reveals a Conserved Pro-Pro Motif in Extracellular Loop 2 of Monostable Visual G Protein-Coupled Receptors
Lukas Hofmann et al.
BIOCHEMISTRY (2017)
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X
Orsolya Orosz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2017)
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa
Benjamin Bakondi et al.
MOLECULAR THERAPY (2016)
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
Elena Buena-Atienza et al.
SCIENTIFIC REPORTS (2016)
Arrestin 1 and Cone Arrestin 4 Have Unique Roles in Visual Function in an All-Cone Mouse Retina
Janise D. Deming et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants
Jessica C. Gardner et al.
HUMAN MUTATION (2014)
Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity
David Rivera-De la Parra et al.
GENE (2013)
Human Cone Visual Pigment Deletions Spare Sufficient Photoreceptors to Warrant Gene Therapy
Artur V. Cideciyan et al.
HUMAN GENE THERAPY (2013)
Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect
Hisao Ueyama et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2012)
Long-Term Rescue of Retinal Structure and Function by Rhodopsin RNA Replacement with a Single Adeno-Associated Viral Vector in P23H RHO Transgenic Mice
Haoyu Mao et al.
HUMAN GENE THERAPY (2012)
The Effect of Cone Opsin Mutations on Retinal Structure and the Integrity of the Photoreceptor Mosaic
Joseph Carroll et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
AAV Delivery of Wild-Type Rhodopsin Preserves Retinal Function in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa
Haoyu Mao et al.
HUMAN GENE THERAPY (2011)
Retinal Remodeling in the Tg P347L Rabbit, a Large-Eye Model of Retinal Degeneration
Bryan William Jones et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2011)
Conformational dynamics of helix 8 in the GPCR rhodopsin controls arrestin activation in the desensitization process
Kristina Kirchberg et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
ER stress in retinal degeneration: a target for rational therapy?
Ana Griciuc et al.
TRENDS IN MOLECULAR MEDICINE (2011)
The genetics of normal and defective color vision
Jay Neitz et al.
VISION RESEARCH (2011)
X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins
Jessica C. Gardner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic
Joseph Carroll et al.
VISION RESEARCH (2010)
Variable Retinal Phenotypes Caused by Mutations in the X-Linked Photopigment Gene Array
Liliana Mizrahi-Meissonnier et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Therapeutic Strategy Rescue Mutation-Induced Exon Skipping in Rhodopsin by Adaptation of U1 snRNA
Gaby Tanner et al.
HUMAN MUTATION (2009)
Gene therapy for red-green colour blindness in adult primates
Katherine Mancuso et al.
NATURE (2009)
Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin
Joseph Carroll et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Structure of cone photoreceptors
Debarshi Mustafi et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2009)
AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEβ mutation
Ji-jing Pang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang et al.
NATURE REVIEWS GENETICS (2007)
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: A screen of known genes in 200 families
Lori S. Sullivan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis
JJ Pang et al.
MOLECULAR THERAPY (2006)
Splicing in action: assessing disease causing sequence changes
D Baralle et al.
JOURNAL OF MEDICAL GENETICS (2005)
X-linked cone dysfunction syndrome with myopia and protanopia
M Michaelides et al.
OPHTHALMOLOGY (2005)
Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy
HF Mendes et al.
TRENDS IN MOLECULAR MEDICINE (2005)
Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals
M Michaelides et al.
EYE (2005)
Characterization of a novel form of X-linked incomplete achromatopsia
MA Crognale et al.
VISUAL NEUROSCIENCE (2004)
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster
U Kellner et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2004)
Functional photoreceptor loss revealed with adaptive optics: An alternate cause of color blindness
J Carroll et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope
M Neitz et al.
VISUAL NEUROSCIENCE (2004)
Pre-mRNA splicing and human disease
NA Faustino et al.
GENES & DEVELOPMENT (2003)
Crystal structure of rhodopsin: a template for cone visual pigments and other G protein-coupled receptors
RE Stenkamp et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2002)
Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors
S Zolotukhin et al.
METHODS (2002)
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies
H Ueyama et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes
WM Jagla et al.
HUMAN MOLECULAR GENETICS (2002)