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Nature Cell Biology, ISSN 1465-7392, 2015, Volume 17, Issue 8, pp. 1074 - 1087
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
JOUBERT-SYNDROME | RPGRIP1 | TRANSPORT | CENTRIOLE BIOGENESIS | PROTEIN | C-ELEGANS | MUTATIONS | PHOTORECEPTOR CELLS | MASTER REGULATOR | PRIMARY CILIA | CELL BIOLOGY | Humans | Pregnancy Proteins - genetics | Databases, Genetic | Suppressor Factors, Immunologic - genetics | Photoreceptor Cells - ultrastructure | Pregnancy Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Cerebellum - abnormalities | Genetic Testing - methods | Suppressor Factors, Immunologic - metabolism | Membrane Proteins - deficiency | Transfection | RNA Interference | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genomics - methods | Genetic Predisposition to Disease | Genome-Wide Association Study | Reproducibility of Results | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Membrane Proteins - genetics | Mice, Inbred C57BL | Abnormalities, Multiple | Genetic Markers | Eye Abnormalities - genetics | Cilia - metabolism | Zebrafish - genetics | Cilia - genetics | Mice, Knockout | Proteins - genetics | Caenorhabditis elegans - ultrastructure | Phenotype | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Proteins - metabolism | Photoreceptor Cells - metabolism | Zebrafish - metabolism | Retina - abnormalities | High-Throughput Nucleotide Sequencing | Ciliary Motility Disorders - metabolism | Mutation | Ciliary Motility Disorders - genetics | RNA | Cilia and ciliary motion | Genetic research | Biosynthesis | Genetic aspects | Research | Gene expression | Properties | reverse genetics | cilia | ciliopathies | Joubert syndrome | whole-genome siRNA screen | Jeune syndrome
Journal Article
Genome Biology, ISSN 1474-7596, 2015, Volume 16, Issue 1, p. 293
BACKGROUND: Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of... 
KIAA0556 | Joubert syndrome | Katanin | K04F10.2 | Microtubule | Basal body | Cilia | PROTEIN | PRIMARY CILIUM | FLAGELLAR LENGTH CONTROL | CAENORHABDITIS-ELEGANS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | CILIOPATHY | MUTATIONS | CILIOGENESIS | INTRAFLAGELLAR TRANSPORT | MOLECULAR-BASIS | Abnormalities, Multiple - pathology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Child, Preschool | Male | Cerebellum - abnormalities | Brain - metabolism | Exome | Microtubules - metabolism | Basal Bodies - pathology | Kidney Diseases, Cystic - genetics | Adult | Female | ADP-Ribosylation Factors - metabolism | Child | Abnormalities, Multiple - genetics | Caenorhabditis elegans - metabolism | Cilia - pathology | Caenorhabditis elegans - genetics | Mice, Inbred C57BL | Cells, Cultured | Adenosine Triphosphatases - metabolism | Eye Abnormalities - genetics | Basal Bodies - metabolism | Cerebellum - pathology | Cilia - genetics | Kidney Diseases, Cystic - pathology | Animals | Eye Abnormalities - pathology | Pedigree | Retina - abnormalities | Brain - pathology | Protein Binding | Mice | Mutation | Retina - pathology | Cerebellum | Brain | Phenotypes | Nuclear magnetic resonance--NMR | Kidneys | Disease | Congenital defects | Teeth | Neurodevelopmental disorders | Defects | Proteins | Microtubules | Fibroblasts | Nematodes | Growth hormones | Research
Journal Article
Journal Article
Experimental Eye Research, ISSN 0014-4835, 08/2018, Volume 173, pp. 148 - 159
Mutations in are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms... 
Zebrafish | Retinal dysfunction | Usherin | Retinitis pigmentosa | Usher syndrome | ush2a | PROTEIN NETWORK | SYNDROME TYPE-II | MYOSIN VIIA | PHOTORECEPTOR CELLS | ACCESSORY OUTER SEGMENT | HARMONIN USH1C | USH2A GENE | COCHLEAR HAIR-CELLS | OPHTHALMOLOGY | LARVAL ZEBRAFISH | RETINITIS-PIGMENTOSA | retinitis pigmentosa | usherin | zebrafish | retinal dysfunction
Journal Article
Journal Article
Journal Article
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 09/2013, Volume 22, Issue 18, pp. 3773 - 3788
Mutations in the myosin VIIa gene cause Usher syndrome type IB (USH1B), characterized by deaf-blindness. A delay of opsin trafficking has been observed in the... 
RETINAL DEGENERATION | CONNECTING CILIUM | MAMMALIAN PHOTORECEPTOR CELLS | ROD PHOTORECEPTORS | LINK COMPLEX | EAR SENSORY CELLS | MYOSIN-VIIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | HAIR-BUNDLE | OUTER SEGMENT | INTRAFLAGELLAR TRANSPORT
Journal Article
Cilia, ISSN 2046-2530, 11/2012, Volume 1, Issue S1, pp. P48 - P48
Journal Article
by Wheway, Gabrielle and Schmidts, Miriam and Mans, Dorus A and Szymanska, Katarzyna and Nguyen, Thanh-Minh T and Racher, Hilary and Phelps, Ian G and Toedt, Grischa and Kennedy, Julie and Wunderlich, Kirsten A and Sorusch, Nasrin and Abdelhamed, Zakia A and Natarajan, Subaashini and Herridge, Warren and van Reeuwijk, Jeroen and Horn, Nicola and Boldt, Karsten and Parry, David A and Letteboer, Stef J F and Roosing, Susanne and Adams, Matthew and Bell, Sana M and Bond, Jacquelyn and Higgins, Julie and Morrison, Ewan E and Tomlinson, Darren C and Slaats, Gisela G and van Dam, Teunis J P and Huang, Lijia and Kessler, Kristin and Giessl, Aneas and Logan, Clare V and Boyle, Evan A and Shendure, Jay and Anazi, Shamsa and Aldahmesh, Mohammed and Al Hazzaa, Selwa and Hegele, Robert A and Ober, Carole and Frosk, Patrick and Mhanni, Aizeddin A and Chodirker, Bernard N and Chudley, Albert E and Lamont, Ryan and Bernier, Francois P and Beaulieu, Chanee L and Gordon, Paul and Pon, Richard T and Donahue, Clem and Barkovich, A James and Wolf, Louis and Toomes, Carmel and Thiel, Christian T and Boycott, Kym M and McKibbin, Martin and Inglehearn, Chris F and Stewart, Fiona and Omran, Heymut and Huynen, Martijn A and Sergouniotis, Panagiotis I and Alkuraya, Fowzan S and Parboosingh, Jillian S and Innes, A Micheil and Willoughby, Colin E and Giles, Rachel H and Webster, Anew R and Ueffing, Marius and Blacque, Oliver and Gleeson, Joseph G and Wolfrum, Uwe and Beales, Philip L and Gibson, Toby and Doherty, Dan and Mitchison, Hannah M and Roepman, Ronald and Johnson, Colin A
Nature Cell Biology, ISSN 1465-7392, 08/2015, Volume 17, Issue 8, p. 1074
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics... 
Journal Article
Cilia, ISSN 2046-2530, 07/2015, Volume 4, Issue 1
Journal Article
Frontiers in Cell and Developmental Biology, ISSN 2296-634X, 10/2019, Volume 7
The human Usher syndrome (USH) is a retinal ciliopathy, characterized by profound congenital deafness, variable vestibular dysfunction and pre-pubertal onset... 
USH1G | Usher syndrome | IFT | ciliary transport | primary cilia | photoreceptor cell
Journal Article
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