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Developmental Biology, ISSN 0012-1606, 06/2019, Volume 450, Issue 2, pp. 141 - 154
Since 1967, it is known that the loss of GLI3 causes very severe defects in murine eye development. GLI3 is able to act as a transcriptional activator (GLI3-A)... 
Hedgehog | DKK | Retina | Lens | β-CATENIN | Eye development | WNT | SONIC HEDGEHOG | CELL-PROLIFERATION | DEVELOPMENTAL BIOLOGY | RETINALDEHYDE DEHYDROGENASE | OPTIC CUP | RETINOIC ACID | beta-CATENIN | GENE RPGRIP1L | LENS DEVELOPMENT | GAMMA-CRYSTALLIN | PROTEIN RPGRIP1L | Molecular biology
Journal Article
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 6, pp. 601 - 606
Journal Article
Nature Cell Biology, ISSN 1465-7392, 09/2017, Volume 19, Issue 10, pp. 1178 - 1188
Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the... 
GENE | MEMBRANE | MECKEL-SYNDROME | PERICENTRIOLAR MATERIAL | NEPHRONOPHTHISIS | MUTATIONS | RPGRIP1L | PRIMARY CILIUM | HUMAN HOMOLOG | BASAL BODY PROTEIN | CELL BIOLOGY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Retina - metabolism | Humans | Male | Smoothened Receptor - metabolism | Cerebellum - abnormalities | Patched-1 Receptor - genetics | Smoothened Receptor - genetics | Young Adult | Ciliopathies - genetics | Patched-1 Receptor - metabolism | Stochastic Processes | Kidney Diseases, Cystic - genetics | Adult | Female | Membrane Proteins - metabolism | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Cell Line | Genetic Predisposition to Disease | Cilia - pathology | Signal Transduction | Membrane Proteins - genetics | Cerebellum - metabolism | Mice, Inbred C57BL | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Carrier Proteins - genetics | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Image Processing, Computer-Assisted | Microscopy, Fluorescence - methods | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Retina - abnormalities | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Retina - pathology | Ciliopathies - pathology | Brain | Meckel's syndrome | Nephronophthisis | Architecture | Congenital defects | Transition zone | Neurodevelopmental disorders | Membrane proteins | Proteins | Signaling | Protein composition | Microscopy | Animal behavior | Stochasticity | Disruption | Localization | Index Medicus
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2008, Volume 40, Issue 4, pp. 443 - 448
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 372 - 378
Journal Article
Nephron, ISSN 1660-8151, 08/2018, Volume 140, Issue 1, pp. 74 - 78
Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal recessive disorders characterized by renal corticomedullary cysts with the extrarenal symptoms.... 
Experimental Nephrology and Genetics: Case Study of Genetic Interest | Ciliopathy | End-stage kidney disease | Nephronophthisis-related ciliopathies | Nephronophthisis | Next-generation sequencing | Renal replacement therapy | RPGRIP1L | Liver cirrhosis | SYNDROME JOUBERT-SYNDROME | GENE | DISEASE | UROLOGY & NEPHROLOGY
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 08/2017, Volume 114, Issue 35, pp. 9421 - 9426
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 110 - 117
Journal Article
PLoS genetics, ISSN 1553-7404, 01/2019, Volume 15, Issue 1, pp. e1007914 - e1007914
Journal Article