X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (237) 237
humans (186) 186
rpgr (151) 151
retinitis pigmentosa - genetics (125) 125
mutation (107) 107
ophthalmology (107) 107
retinitis pigmentosa (106) 106
male (104) 104
animals (101) 101
eye proteins - genetics (101) 101
female (95) 95
genetics & heredity (87) 87
pedigree (74) 74
eye diseases (65) 65
linked retinitis-pigmentosa (62) 62
retinal degeneration (60) 60
biochemistry & molecular biology (56) 56
mice (56) 56
mutations (56) 56
phenotype (56) 56
leber congenital amaurosis (53) 53
adult (52) 52
nucleotide-exchange factor (51) 51
families (50) 50
retina (50) 50
gene (47) 47
identification (45) 45
regulator-interacting protein (45) 45
electroretinography (44) 44
degeneration (42) 42
genetic diseases, x-linked - genetics (42) 42
genetic structures (40) 40
sense organs (40) 40
article (39) 39
middle aged (39) 39
molecular sequence data (38) 38
retinitis pigmentosa - pathology (38) 38
genetic aspects (37) 37
carrier proteins - genetics (36) 36
disease (36) 36
photoreceptors (35) 35
retinitis-pigmentosa (35) 35
rp2 (35) 35
base sequence (34) 34
dna mutational analysis (34) 34
eye proteins - metabolism (33) 33
rpgr gene (33) 33
disease models, animal (32) 32
adolescent (31) 31
exon orf15 (31) 31
proteins - genetics (31) 31
cone-rod dystrophy (29) 29
mutation - genetics (29) 29
research (29) 29
retina - metabolism (29) 29
child (28) 28
dogs (27) 27
eye proteins (27) 27
genetic linkage (27) 27
medicine, research & experimental (27) 27
cilia (26) 26
positional cloning (26) 26
amino acid sequence (25) 25
dystrophy (25) 25
genes (25) 25
genetics (25) 25
locus (24) 24
proteins (24) 24
retinal degeneration - genetics (24) 24
genotype (23) 23
retinitis pigmentosa - diagnosis (23) 23
retinitis pigmentosa - physiopathology (23) 23
x-linked retinitis pigmentosa (23) 23
exons - genetics (22) 22
mutation analysis (22) 22
retina - pathology (22) 22
gene therapy (21) 21
heterozygote (21) 21
genetic therapy (20) 20
photoreceptor degeneration (20) 20
rpgr exon orf15 (20) 20
aged (19) 19
exons (19) 19
gtpase regulator (19) 19
homology (19) 19
localization (19) 19
protein (19) 19
retinitis (19) 19
retinitis pigmentosa - metabolism (19) 19
young adult (19) 19
gene mutations (18) 18
multidisciplinary sciences (18) 18
rp3 (18) 18
blindness (17) 17
cell biology (17) 17
membrane proteins - genetics (17) 17
proteins - metabolism (17) 17
connecting cilium (16) 16
polymerase chain reaction (16) 16
research article (16) 16
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Molecular Biology of the Cell, ISSN 1059-1524, 07/2018, Volume 29, Issue 13, pp. 1590 - 1598
The outer segment (OS) of photoreceptor cells is an elaboration of a primary cilium with organized stacks of membranous disks that contain the proteins needed... 
TRANSPORT | MICROTUBULES | TRAFFICKING | REGULATOR (RPGR)-INTERACTING PROTEIN | MUTATIONS | BINDING | GTPASE | RPGR | REVEALS | DEGENERATION | CELL BIOLOGY | Index Medicus
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 05/2018, Volume 59, Issue 6, pp. 2422 - 2436
To characterize bilateral visual function, interocular variability and progression by using static perimetry-derived volumetric and pointwise metrics in... 
Static perimetry | Genetic diseases | Retinitis pigmentosa | Visual field | RPGR | Index Medicus | genetic diseases | retinitis pigmentosa | Genetics | visual field | static perimetry
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2018, Volume 59, Issue 11, pp. 4434 - 4440
Purpose: Mutations in the ORF15 region of RPGR account for approximately half of all X-linked retinitis pigmentosa cases. However, a robust high-throughput... 
ORF15 | Genetic testing | RPGR ORF15 | X-linked retinitis pigmentosa | RPGR | MUTATION ANALYSIS | DIAGNOSIS | EXON | GENE | RP2 | genetic testing | FAMILIES | DISEASE | OPHTHALMOLOGY | SPECTRUM | LINKED RETINITIS-PIGMENTOSA | Index Medicus
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 08/2018, Volume 217, Issue 8, pp. 2851 - 2865
Photoreceptor-specific ciliopathies often affect a structure that is considered functionally homologous to the ciliary transition zone (TZ) called the... 
PIGMENTOSA GTPASE REGULATOR | RETINAL DEGENERATION | LOCALIZATION | OUTER SEGMENT DEVELOPMENT | DISRUPTION | TRANSITION ZONE | (RPGR)-INTERACTING PROTEIN | DISEASE | CILIOPATHY | RPGR | CELL BIOLOGY | Phenotypes | Homology | Transition zone | Proteins | Genotype & phenotype | Microscopy | Microtubules | Retinal degeneration | Photoreceptors | Degeneration | Mutation | Stochasticity | Destabilization | Cilia | Index Medicus | 1 | s | 25 | 40
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2012, Volume 109, Issue 6, pp. 2132 - 2137
Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or retinal pigment epithelium. Gene therapy in mouse and dog models of... 
Eyes | Disease vectors | Disease models | Canines | Retinitis pigmentosa | Photoreceptors | Retina | Gene therapy | Retinal diseases | Genetic mutation | Retinal degeneration | MUTATION ANALYSIS | retinal degeneration | LEBER CONGENITAL AMAUROSIS | CHILDHOOD BLINDNESS | CANINE MODEL | retina | CONE VISION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | RPGR EXON ORF15 | GTPASE REGULATOR RPGR | DISEASE EXPRESSION | Genetic Therapy | Retinal Bipolar Cells - pathology | Humans | Retinitis Pigmentosa - genetics | Genotype | Eye Proteins - therapeutic use | Mutation - genetics | Open Reading Frames - genetics | Blindness - genetics | Protein Transport | Phenotype | Animals | Retinitis Pigmentosa - therapy | Dogs | Opsins - metabolism | Genetic Diseases, X-Linked - genetics | Mice | Blindness - therapy | Eye Proteins - genetics | Photoreceptor Cells, Vertebrate - pathology | Genetic Diseases, X-Linked - therapy | Care and treatment | Blindness | Physiological aspects | Genetic aspects | Research | Health aspects | Proteins | Mutation | Gene expression | Animal models | Translation | Preservation | X chromosome | Clinical trials | Rod outer segment membranes | Nuclei | Promoters | interphotoreceptor retinoid-binding protein | Cones | Bipolar cells | retinal pigment epithelium | Guanosinetriphosphatase | Index Medicus | Biological Sciences
Journal Article
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 03/2012, Volume 53, Issue 3, pp. 1519 - 1529
PURPOSE. Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa. The RPGR transcript... 
SENSORINEURAL HEARING-LOSS | MOLECULAR LINKS | GENE | HAIR BUNDLE | MOUSE | OPHTHALMOLOGY | REGULATOR (RPGR)-INTERACTING PROTEIN | SYNDROME TYPE-1 | TRANSPORT PROTEINS | LINKED RETINITIS-PIGMENTOSA | RPGR FUNCTION
Journal Article
Journal Article
Journal of Applied Biological Sciences, ISSN 1307-1130, 2017, Volume 11, Issue 1, pp. 11 - 14
Journal Article
JOURNAL OF NEUROSCIENCE, ISSN 0270-6474, 05/2018, Volume 38, Issue 20, pp. 4708 - 4723
Microglia are the resident immune cells of the CNS, and their response to infection, injury and disease is well documented. More recently, microglia have been... 
CONNECTING CILIUM | CELLS | PROTEIN | ROD | photoreceptor | NEUROSCIENCES | RPGR | cilium | fractalkine | retina | Cx3crl | MOUSE MODEL | IN-VIVO | CONE | microglia | EXPRESSION
Journal Article
Journal Article
Human Gene Therapy Clinical Development, ISSN 2324-8637, 12/2018, Volume 29, Issue 4, pp. 188 - 197
Applied Genetic Technologies Corporation (AGTC) is developing a recombinant adeno-associated virus (rAAV) vector AGTC-501, also designated AAV2tYF-GRK1-RPGRco,... 
retinitis pigmentosa | gene therapy | XLRP | AAV | RPGR | MEDICINE, RESEARCH & EXPERIMENTAL | ISOFORMS | EFFICACY | RPGR-ORF15 | STABILITY | ROD | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | DISEASE | GENE-THERAPY | LINKED RETINITIS-PIGMENTOSA | GLUTAMYLATION
Journal Article
Journal Article
Oncotarget, ISSN 1949-2553, 05/2018, Volume 9, Issue 33, pp. 23183 - 23197
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the gene and its... 
Store-operated Ca | Ciliopathy | entry | Actin cytoskeleton | RPGR complex | Endoplasmic reticulum
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 170 - 176
Background: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells.... 
hereditary X-linked recessive diseases | X-linked carrier | Retinitis pigmentosa | X-linked retinal disease | RPGR
Journal Article