X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (78) 78
index medicus (70) 70
ophthalmology (66) 66
crb1 gene (65) 65
leber congenital amaurosis (62) 62
crb1 (60) 60
mutation (54) 54
female (52) 52
retinitis-pigmentosa (50) 50
animals (49) 49
nerve tissue proteins - genetics (49) 49
male (48) 48
membrane proteins - genetics (48) 48
eye proteins - genetics (47) 47
phenotype (37) 37
genetics & heredity (31) 31
mice (31) 31
dna mutational analysis (30) 30
child (29) 29
retina (29) 29
adult (28) 28
pedigree (28) 28
retinal degeneration - genetics (27) 27
retinal degeneration (25) 25
retinitis pigmentosa (25) 25
electroretinography (24) 24
drosophila-crumbs (23) 23
adolescent (22) 22
biochemistry & molecular biology (22) 22
genotype (22) 22
disease models, animal (21) 21
mice, inbred c57bl (21) 21
eye diseases (20) 20
mutations (20) 20
sense organs (20) 20
crumbs (19) 19
retinitis pigmentosa - genetics (19) 19
child, preschool (18) 18
retina - metabolism (18) 18
genetic structures (17) 17
photoreceptor morphogenesis (17) 17
tomography, optical coherence (17) 17
degeneration (16) 16
membrane proteins - metabolism (16) 16
molecular sequence data (16) 16
photoreceptors (16) 16
retina - pathology (16) 16
mutation - genetics (15) 15
nerve tissue proteins - metabolism (15) 15
protein (15) 15
proteins (15) 15
blindness (14) 14
blindness - congenital (14) 14
eye proteins - metabolism (14) 14
genes (14) 14
middle aged (14) 14
amino acid sequence (13) 13
blindness - genetics (13) 13
gene (13) 13
retinal degeneration - pathology (13) 13
alleles (12) 12
article (12) 12
drosophila (12) 12
genetic aspects (12) 12
homozygote (12) 12
mice, knockout (12) 12
optic atrophy, hereditary, leber - genetics (12) 12
retinal dystrophies - genetics (12) 12
base sequence (11) 11
carrier proteins - genetics (11) 11
cell polarity (11) 11
crumbs homolog-1 (11) 11
fluorescein angiography (11) 11
macular degeneration (11) 11
polymerase chain reaction (11) 11
recessive retinitis-pigmentosa (11) 11
research article (11) 11
cells (10) 10
disease (10) 10
expression (10) 10
genetic disorders (10) 10
rd8 mutation (10) 10
analysis (9) 9
cell biology (9) 9
genetics (9) 9
guanylate cyclase - genetics (9) 9
homolog (9) 9
infant (9) 9
leber congenital amaurosis - genetics (9) 9
medicine (9) 9
mice, transgenic (9) 9
neurosciences (9) 9
polarity (9) 9
research (9) 9
retinal degeneration - metabolism (9) 9
zonula adherens formation (9) 9
cis-trans-isomerases (8) 8
consanguinity (8) 8
dystrophy (8) 8
fundus oculi (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Neuroinflammation, ISSN 1742-2094, 01/2015, Volume 12, Issue 1, pp. 6 - 6
Background: Microglia/macrophages (MG/M Phi) are found in the subretinal space in both mice and humans. Our goal was to study the spatial and temporal... 
macrophages | rd8 | CD16 | subretinal | aging | activation | microglia | Crb1 | gene expression | Iba-1 | RD8 MUTATION | CELLS | INVOLVEMENT | IMMUNOLOGY | NEUROSCIENCES | MACROPHAGE ACTIVATION | LESIONS | SENILE MACULAR DEGENERATION | CRB1 GENE | RETINAL MICROGLIA | ACCUMULATION | AGE | Mannose-Binding Lectins - metabolism | Microglia - metabolism | Retinal Pigment Epithelium - metabolism | Retina - metabolism | Age Factors | Cell Count | Neural Pathways - pathology | Lectins, C-Type - genetics | Receptors, IgG - metabolism | Lectins, C-Type - metabolism | Retinal Pigment Epithelium - pathology | Receptors, IgG - genetics | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | Disease Models, Animal | Calcium-Binding Proteins - metabolism | Macrophages - ultrastructure | Gene Expression Regulation - genetics | Retinal Degeneration - genetics | Mice, Inbred C57BL | Receptors, Cell Surface - metabolism | Mice, Transgenic | Mutation - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Macrophages - metabolism | Phenotype | Animals | Mannose-Binding Lectins - genetics | Microglia - ultrastructure | Neural Pathways - metabolism | Mice | Retinal Degeneration - pathology | Retina - pathology | Calcium-Binding Proteins - genetics | Receptors, Cell Surface - genetics | Genetic research | Fc receptors | Genetic transcription | Analysis | Genes
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 2875 - 2887
PURPOSE. We previously found a dominant mutation, Rwhs, causing white spots on the retina accompanied by retinal folds. Here we identify the mutant gene to be... 
mouse models | genetic diseases | CRB1 | BESTROPHIN | FRIZZLED-RELATED PROTEIN | DEGENERATION | POSTERIOR MICROPHTHALMOS | MFRP | retina | CRUMBS HOMOLOG-1 | OPHTHALMOLOGY | GENOME-WIDE | RECESSIVE SYNDROME | RETINITIS-PIGMENTOSA | nanophthalmos
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 05/2019, Volume 40, Issue 3, pp. 288 - 292
Background: To characterize the phenotype and genotype of a rare syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), and... 
foveoschisis | optic nerve drusen | retinitis pigmentosa | Posterior microphthalmos | membrane frizzled-related protein | NANOPHTHALMOS | CRB1 | GENETICS & HEREDITY | OPHTHALMOLOGY | RECESSIVE SYNDROME
Journal Article
Fresenius Environmental Bulletin, ISSN 1018-4619, 11/2018, Volume 27, Issue 11, p. 7739
To apply targeted next-generation sequencing to detect a novel mutation in the Crumbs homologue- 1 (CRB1) gene in a non-consanguineous Chinese family with... 
Pathogens | CRB1 gene | Pathogenesis | Homology | Patients | Gene sequencing | Pathogenicity | Next-generation sequencing | Pedigree | Blindness | Mutation | DNA testing | Deoxyribonucleic acid--DNA
Journal Article
Molecular Syndromology, ISSN 1661-8769, 10/2016, Volume 7, Issue 5, pp. 274 - 281
The family of vertebrate Crumbs proteins, homologous to Drosophila Crumbs (Crb), share large extracellular domains with epidermal growth factor-like repeats... 
Review Article | CRB2 | Crumbs proteins | CRB1 | Review
Journal Article
Journal Article
by Ye, YC and Chen, JJ and Zhang, J and Li, M and Yang, XX
FRESENIUS ENVIRONMENTAL BULLETIN, ISSN 1018-4619, 2018, Volume 27, Issue 11, pp. 7739 - 7745
To apply targeted next-generation sequencing to detect a novel mutation in the Crumbs homologue-1 (CRB1) gene in a non-consanguineous Chinese family with Leber... 
CRB1 | MOLECULAR-GENETICS | ENVIRONMENTAL SCIENCES | targeted next-generation sequencing | gene mutation | UPDATE | LCA | Sanger sequencing
Journal Article
Molecular Vision, ISSN 1090-0535, 01/2018, Volume 24, p. 679
Purpose: The aim of this study was to identify the molecular genetic basis of hereditary retinal dystrophies (HRDs) in five unrelated Iranian families.... 
CRB1 gene | Missense mutation | Clonal deletion | Blindness | MERTK gene | Frameshift mutation | Retina | LRP5 protein | Mutation | Gene deletion | Bioinformatics
Journal Article
Zhonghua Shiyan Yanke Zazhi/Chinese Journal of Experimental Ophthalmology, ISSN 2095-0160, 07/2018, Volume 36, Issue 7, pp. 526 - 530
Journal Article
Journal Article
Journal Article
Developmental Biology, ISSN 0012-1606, 11/2016, Volume 419, Issue 2, pp. 336 - 347
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 01/2014, Volume 55, Issue 1, pp. 387 - 395
PURPOSE. We directly corrected the mouse Crb1(rd8) gene mutation, which is present in many inbred laboratory strains derived from C57BL/6N and complicates... 
CRB1 | KOMP | gene therapy | EMBRYO MICROINJECTION | MODEL | genetic engineering | DEGENERATION | ZINC-FINGER TARGETER | CONSORTIUM | MOUSE STRAINS | GENE | TALEN | CRB1 associated disease | OPHTHALMOLOGY | MUTATIONS | DROSOPHILA-CRUMBS
Journal Article
ASN Neuro, ISSN 1759-0914, 2013, Volume 5, Issue 5, pp. 309 - 319
AMD (age-related macular degeneration) is a neurodegenerative disease causing irreversible central blindness in the elderly. Apoptosis and inflammation play... 
Neuroprotection | Retina | Inflammation | Pigment epithelium-derived factor | Age-related macular degeneration | Apoptosis | CELLS | CCL2/CX3CR1-DEFICIENT MICE | apoptosis | MACULAR DEGENERATION | INTERPHOTORECEPTOR MATRIX | pigment epithelium-derived factor | IDENTIFICATION | NEUROSCIENCES | LESIONS | FACTOR PEDF | inflammation | retina | neuroprotection | NEOVASCULARIZATION | age-related macular degeneration | PHOTORECEPTOR DEGENERATION | ENDOTHELIAL GROWTH-FACTOR | Retinoids - metabolism | Epithelial Cells - metabolism | Apoptosis - drug effects | Epithelial Cells - drug effects | Humans | Nerve Growth Factors - metabolism | Nerve Growth Factors - pharmacology | Retina - cytology | Anti-Inflammatory Agents - therapeutic use | Receptors, Chemokine - genetics | Cytokines - genetics | Disease Models, Animal | Cytokines - metabolism | Serpins - metabolism | Anti-Inflammatory Agents - pharmacology | Gene Expression Regulation - genetics | Retinal Degeneration - drug therapy | Retinal Degeneration - genetics | Mice, Inbred C57BL | Cells, Cultured | Chemokine CCL2 - genetics | Mice, Transgenic | Eye Proteins - therapeutic use | Serpins - therapeutic use | Mutation - genetics | Nerve Tissue Proteins - genetics | Serpins - pharmacology | Nerve Growth Factors - therapeutic use | Gene Expression Regulation - drug effects | Animals | Eye Proteins - metabolism | Mice | Pyridinium Compounds - metabolism | Retinal Degeneration - pathology | CX3C Chemokine Receptor 1 | Eye Proteins - pharmacology
Journal Article