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by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Wang, Shaohui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Peter and Nurnberg, Gudrun and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell, ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Journal Article
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 9, pp. 995 - 1003
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Journal Article
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
The American Journal of Human Genetics, ISSN 0002-9297, 09/2014, Volume 95, Issue 3, pp. 257 - 274
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 2013, Volume 9, Issue 12, pp. e1003977 - e1003977
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of... 
COMPLEX | CAENORHABDITIS-ELEGANS | TRANSITION ZONE | ARL13B | SIGNALING PROTEINS | GENETICS & HEREDITY | TRAFFICKING | C-ELEGANS | CILIOGENESIS | SENSORY CILIA | INTRAFLAGELLAR TRANSPORT | Polycystic Kidney Diseases - genetics | Cytoskeletal Proteins - genetics | Humans | Biological Transport, Active - genetics | Cerebellum - abnormalities | Membranes - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | Bardet-Biedl Syndrome - pathology | Kidney Diseases, Cystic - genetics | Bardet-Biedl Syndrome - genetics | Cytoskeletal Proteins - metabolism | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Encephalocele - genetics | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Abnormalities, Multiple | Transcription Factors - genetics | Eye Abnormalities - genetics | Cilia - metabolism | Cilia - genetics | Kidney Diseases, Cystic - pathology | Transcription Factors - metabolism | Animals | Cerebellar Diseases - genetics | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Ciliary Motility Disorders - genetics | Cilia and ciliary motion | Biological transport, Active | Joubert syndrome | Physiological aspects | Genetic research | Genetic aspects | Research | Health aspects | Index Medicus | Proteins | Studies | Genotype & phenotype | Membranes | Motility | Peptides | Proteomics | Diffusion | Experiments
Journal Article