X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
cep290 (130) 130
index medicus (109) 109
humans (93) 93
mutation (62) 62
leber congenital amaurosis (48) 48
animals (45) 45
centrosomal protein (38) 38
genetics & heredity (38) 38
female (36) 36
male (36) 36
gene (35) 35
mutations (33) 33
ophthalmology (33) 33
joubert-syndrome (31) 31
antigens, neoplasm - genetics (30) 30
cilia (30) 30
neoplasm proteins - genetics (30) 30
retinal degeneration (30) 30
phenotype (26) 26
disease (25) 25
mice (25) 25
retina (25) 25
biochemistry & molecular biology (24) 24
cell biology (23) 23
proteins (23) 23
article (21) 21
joubert syndrome (21) 21
leber congenital amaurosis - genetics (20) 20
blindness (19) 19
child (19) 19
cilia - pathology (19) 19
genetic aspects (19) 19
pedigree (19) 19
ciliopathy (18) 18
dna mutational analysis (18) 18
genes (18) 18
medicine, research & experimental (18) 18
adult (17) 17
ciliogenesis (17) 17
primary cilium (17) 17
retinal degeneration - genetics (17) 17
cilia - metabolism (16) 16
ciliopathies (16) 16
nephronophthisis (16) 16
photoreceptors (16) 16
research (16) 16
bardet-biedl-syndrome (15) 15
gene mutations (15) 15
genotype (15) 15
antigens, neoplasm - metabolism (14) 14
cilia - genetics (14) 14
genetics (14) 14
kidney diseases, cystic - genetics (14) 14
neoplasm proteins - metabolism (14) 14
proteins - genetics (14) 14
syndrome (14) 14
membrane (13) 13
nphp6 (13) 13
retinitis-pigmentosa (13) 13
transition zone (13) 13
cell line (12) 12
cerebellum - abnormalities (12) 12
child, preschool (12) 12
eye proteins - genetics (12) 12
gene-therapy (12) 12
genetic disorders (12) 12
retina - pathology (12) 12
adolescent (11) 11
centrosome (11) 11
eye diseases (11) 11
protein (11) 11
alleles (10) 10
base sequence (10) 10
biology (10) 10
disease models, animal (10) 10
disorders (10) 10
dystrophy (10) 10
infant (10) 10
localization (10) 10
middle aged (10) 10
retina - abnormalities (10) 10
retina - metabolism (10) 10
sense organs (10) 10
analysis (9) 9
articles (9) 9
degeneration (9) 9
electroretinography (9) 9
genomes (9) 9
identification (9) 9
magnetic resonance imaging (9) 9
model (9) 9
phenotypes (9) 9
protein binding (9) 9
retinitis pigmentosa - genetics (9) 9
young adult (9) 9
abnormalities, multiple - genetics (8) 8
bardet-biedl syndrome (8) 8
cerebellar diseases - genetics (8) 8
diagnosis (8) 8
gene therapy (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Cell Stem Cell, ISSN 1934-5909, 06/2016, Volume 18, Issue 6, pp. 769 - 781
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic... 
RETINAL DEGENERATION | JOUBERT-SYNDROME | CELLS | LEBER CONGENITAL AMAUROSIS | TRANSITION ZONE | MUTATION | GENES | LINKED RETINITIS-PIGMENTOSA | CEP290 | CENTROSOMAL PROTEIN | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Leber Congenital Amaurosis - pathology | Optic Disk - cytology | Retinal Pigment Epithelium - metabolism | Humans | Blindness - pathology | Male | Organogenesis - drug effects | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | Retinal Pigment Epithelium - pathology | Retinal Pigment Epithelium - ultrastructure | RNA Splicing - genetics | Antigens, Neoplasm - metabolism | Cilia - drug effects | Inheritance Patterns - genetics | Blindness - therapy | Induced Pluripotent Stem Cells - cytology | Neoplasm Proteins - genetics | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Retinal Pigment Epithelium - drug effects | rab GTP-Binding Proteins - metabolism | Antigens, Neoplasm - genetics | RNA Splicing - drug effects | Photoreceptor Cells, Vertebrate - ultrastructure | Induced Pluripotent Stem Cells - drug effects | RNA, Messenger - genetics | Exons - genetics | Fibroblasts - pathology | Cilia - metabolism | Eye Proteins - metabolism | Cell Differentiation - drug effects | Fibroblasts - drug effects | Morpholinos - pharmacology | Opsins - metabolism | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Index Medicus
Journal Article
Journal of cell science, ISSN 0021-9533, 01/2019, Volume 132, Issue 2, p. jcs221663
Centriolar satellites are small cytoplasmic granules that play important roles in regulating the formation of centrosomes and primary cilia. Ubiquitylation of... 
Deubiquitylation | PCM1 | Centriolar satellites | Deubiquitylase | USP9X | LOCALIZATION | CILIOPATHIES | CILIUM | CENTROSOMAL PROTEIN | CELL BIOLOGY | GENE | INTERACTS | COMPONENT | MUTATIONS | CEP290 | DEUBIQUITINASE USP9X
Journal Article
Molecular Biology of the Cell, ISSN 1059-1524, 12/2018, Volume 29, Issue 26, pp. 3105 - 3118
Microtubule nucleation was uncovered as a key principle of spindle assembly. However, the mechanistic details about microtubule nucleation and the organization... 
MOLECULAR CHARACTERIZATION | RECRUITMENT | CENTRIOLAR SATELLITE | PROTEIN | APPENDAGES | MOTHER CENTRIOLES | TARGETS CEP290 | PCM-1 | MICROTUBULE DYNAMICS | CYCLE | CELL BIOLOGY
Journal Article
Cilia, ISSN 2046-2530, 07/2013, Volume 2, Issue 1, pp. 9 - 9
Cilia are hair-like protrusions found at the surface of most eukaryotic cells. They can be divided into two types, motile and non-motile. Motile cilia are... 
CP110 | IFT | Centrosomes | Ciliogenesis | Cep290 | BBSome | Protein network | Cilia
Journal Article
Journal of cell science, ISSN 0021-9533, 2018, Volume 131, Issue 24, p. jcs221218
The primary cilium is a tiny cell protrusion known to transduce key extracellular signals, including those of the sonic hedgehog pathway, which activates Gli... 
Primary cilium | Ofd1 | CRISPR/Cas9 technology | Autophagy | Cell cycle | Gli2 | ACTIVATION | MEMBRANE | HEDGEHOG | CELL BIOLOGY | INHIBITION | PATHWAY | GENES | CILIOGENESIS | DYSFUNCTION | CEP290
Journal Article
Ophthalmology, ISSN 0161-6420, 12/2018, Volume 125, Issue 12, pp. 1937 - 1952
Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. This study... 
KIDNEY-DISEASE | INDIVIDUALS | CHORIORETINAL COLOBOMA | CEP290 MUTATIONS | NEPHRONOPHTHISIS | OPHTHALMOLOGY | DISORDERS | CILIOPATHY | MOLAR TOOTH | CONGENITAL RETINAL BLINDNESS | PRIMARY CILIUM | Medicine, Experimental | Medical research
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 2012, Volume 1, Issue 3, pp. e14 - e14
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal degeneration, with an onset in the first year of life. The most frequent mutation... 
AON | LCA | genetic therapy | CEP290 | antisense oligonucleotides | Genetic therapy | Antisense oligonucleotides | MEDICINE, RESEARCH & EXPERIMENTAL | Original
Journal Article
BRAIN & DEVELOPMENT, ISSN 0387-7604, 04/2018, Volume 40, Issue 4, pp. 259 - 267
Objective: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD).... 
Joubert syndrome related diseases | Cilium | CILIOPATHIES | GENE | OCULO-RENAL SYNDROMES | Joubert syndrome | NEPHRONOPHTHISIS | Arima syndrome | DISORDERS | LEBER | CEP290 | CLINICAL NEUROLOGY
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, pp. 233 - 233
Journal Article
Turkish Journal of Biology, ISSN 1300-0152, 2018, Volume 42, Issue 5, pp. 371 - 381
The mammalian centrosome/cilium complex is composed of the centrosome, the primary cilium, and the centriolar satellites, which together function in key... 
Primary cilium | Ciliopathy | cep290 | Centriolar satellites | Microtubules | Centrosome | centriolar satellites | microtubules | Cep290 | centrosome | CENTROSOMAL PROTEIN | ciliopathy | TRANSITION | primary cilium | INTERACTS | BIOLOGY | DUPLICATION | MUTATIONS | CILIOGENESIS
Journal Article
Journal of Cell Science, ISSN 0021-9533, 08/2018, Volume 131, Issue 16
Cilia are cellular antennae that are essential for human development and physiology. A large number of genetic disorders linked to cilium dysfunction are... 
PtdIns(4,5)P | Skittles | Cep290 | Transition zone | Basal body | Cilia | CELLS | EXOCYST | PLASMA-MEMBRANE | PHOSPHOINOSITIDES | CENTRIOLE DUPLICATION | MICROTUBULE ORGANIZATION | CELL BIOLOGY | IN-VITRO | CILIARY PROTEIN TRAFFICKING | PIPKI-GAMMA | PtdIns(4,5) P-2 | CILIOGENESIS
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1032 - 1036
Journal Article