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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2013, Volume 110, Issue 24, pp. 9856 - 9861
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which... 
Cardiovascular system | Exome | COS cells | Phenotypes | Blood vessels | Genetic mutation | Embryos | Sequencing | Zinc | Mutant proteins | SET DOMAIN | ZINC FINGERS | GENE | FZD4 | IKAROS | MULTIDISCIPLINARY SCIENCES | NORRIE DISEASE | LRP5 | MUTATIONS | IDENTIFICATION | LOCUS | Gene mutations | Zebra fish | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Retinal diseases | Health aspects | DNA sequencing | Biological Sciences
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1035 - 1039
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
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 5446 - 15
Primary cilia defects result in a group of related pleiotropic malformation syndromes known as ciliopathies, often characterised by cerebellar developmental... 
JOUBERT-SYNDROME | PROTEIN | NPHP1 GENE DELETION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | EXPANSION | MICE | CILIOGENESIS | WNT | PRIMARY CILIUM | MECKEL-GRUBER-SYNDROME | Hypoplasia | Cerebellum | Pattern formation | Phenotypes | Transcription factors | Wnt protein | Frizzled protein | Gestation | Gene expression | Defects | Homeobox | β-catenin | Hedgehog protein | Purkinje cells | Hindbrain | Cilia | Apoptosis
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2013, Volume 22, Issue 7, pp. 1358 - 1372
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS)... 
Polycystic Kidney Diseases - genetics | Humans | Hedgehog Proteins - metabolism | Mice, 129 Strain | Cerebellum - abnormalities | Encephalocele - metabolism | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Dishevelled Proteins | Eye Abnormalities - metabolism | Wnt Signaling Pathway | Disease Models, Animal | Polycystic Kidney Diseases - metabolism | Cerebellar Diseases - metabolism | Membrane Proteins - genetics | Abnormalities, Multiple | Mice, Knockout | Kidney Diseases, Cystic - metabolism | Luciferases, Firefly - biosynthesis | Phenotype | Ciliary Motility Disorders - pathology | Eye Abnormalities - pathology | Mice | Retina - pathology | Retina - metabolism | Neural Tube Defects - genetics | Neural Tube Defects - pathology | Neural Tube Defects - metabolism | Phosphoproteins - metabolism | Membrane Proteins - deficiency | Cerebellar Diseases - pathology | HEK293 Cells | Kidney Diseases, Cystic - genetics | Genes, Reporter | Encephalocele - genetics | Cilia - pathology | Mice, Inbred C57BL | Gene Expression Regulation | Eye Abnormalities - genetics | Kidney Diseases, Cystic - pathology | Protein Transport | Animals | Cerebellar Diseases - genetics | Encephalocele - pathology | Retina - abnormalities | Luciferases, Firefly - genetics | Ciliary Motility Disorders - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Body Patterning - genetics | Ciliary Motility Disorders - genetics
Journal Article
DMM Disease Models and Mechanisms, ISSN 1754-8403, 06/2015, Volume 8, Issue 6, pp. 527 - 541
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 248 - 253
Familial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder of the retinal vascular system. Although mutations in three genes ( , , and ) are... 
VASCULARIZATION | ANGIOGENESIS | VASCULATURE | NORRIE-DISEASE GENE | FZD4 MUTATIONS | GENETICS & HEREDITY | LRP5 | FRIZZLED-4 GENE | DOMAINS | LOCUS | TETRASPANIN PROTEINS | Heterozygosis | Research | Gene mutations | Genetic screening | Heterozygosity
Journal Article
Developmental Biology, ISSN 0012-1606, 05/2013, Volume 377, Issue 1, pp. 55 - 66
Journal Article
PLoS ONE, ISSN 1932-6203, 2014, Volume 9, Issue 8, p. e104281
Journal Article
Journal Article