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Cell, ISSN 0092-8674, 2011, Volume 145, Issue 4, pp. 513 - 528
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2010, Volume 107, Issue 4, pp. 1488 - 1493
Journal Article
Genes and Development, ISSN 0890-9369, 11/2011, Volume 25, Issue 22, pp. 2347 - 2360
The membrane of the primary cilium is a highly specialized compartment that organizes proteins to achieve spatially ordered signaling. Disrupting ciliary... 
UNC119 | ARL3 | Myristoylation | NPHP | RETINAL DEGENERATION | NERVOUS-SYSTEM | PROTEIN | myristoylation | PHOTORECEPTOR | DEVELOPMENTAL BIOLOGY | SENSORY NEURONS | CELL BIOLOGY | DELTA-SUBUNIT | CAENORHABDITIS-ELEGANS | GENE | PDE-DELTA | GENETICS & HEREDITY | C-ELEGANS | Caenorhabditis elegans Proteins - chemistry | Caenorhabditis elegans Proteins - metabolism | Intracellular Signaling Peptides and Proteins - metabolism | Zebrafish - embryology | Gene Knockdown Techniques | Kinesin - genetics | Cilia - enzymology | Intracellular Signaling Peptides and Proteins - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Caenorhabditis elegans - metabolism | Caenorhabditis elegans - genetics | Zebrafish Proteins - metabolism | Monomeric GTP-Binding Proteins - genetics | Cilia - metabolism | Zebrafish - genetics | Kinesin - metabolism | Protein Transport | Phenotype | Sequence Alignment | Animals | GTP Phosphohydrolases - metabolism | Monomeric GTP-Binding Proteins - metabolism | GTP Phosphohydrolases - genetics | Zebrafish - metabolism | Adaptor Proteins, Signal Transducing - genetics | Protein Binding | Mutation | Zebrafish Proteins - genetics | Adaptor Proteins, Signal Transducing - metabolism | Caenorhabditis elegans - enzymology | Care and treatment | Kidney, Cystic | Neural tube | Abnormalities | Index Medicus | Research Paper
Journal Article
The Journal of Cell Biology, ISSN 0021-9525, 7/2010, Volume 190, Issue 2, pp. 263 - 278
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2011, Volume 20, Issue 8, pp. 1467 - 1477
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, pp. e1006936 - e1006936
Mutations in BBS6 cause two clinically distinct syndromes, Bardet-Biedl syndrome (BBS), a syndrome caused by defects in cilia transport and function, as well... 
ZEBRAFISH EMBRYOS | KUPFFERS VESICLE | MCKUSICK-KAUFMAN-SYNDROME | SWI/SNF COMPLEX | PORE COMPLEX | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | SYNDROME GENES | MUTATIONS | BETA-CATENIN | MOUSE EMBRYO | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Uterine Diseases - metabolism | Bardet-Biedl Syndrome - metabolism | Humans | Uterine Diseases - pathology | Chromatin Assembly and Disassembly - genetics | Cytoplasm - metabolism | Polydactyly - metabolism | Group II Chaperonins - genetics | Heart Defects, Congenital - genetics | Hydrocolpos - genetics | Bardet-Biedl Syndrome - pathology | Bardet-Biedl Syndrome - genetics | Hydrocolpos - pathology | Active Transport, Cell Nucleus - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal | Cilia - pathology | Polydactyly - genetics | Heart Defects, Congenital - pathology | Hydrocolpos - metabolism | Transcription Factors - biosynthesis | Transcription Factors - genetics | Cilia - metabolism | Protein Transport - genetics | Zebrafish - genetics | Animals | Animals, Genetically Modified - genetics | Uterine Diseases - genetics | Heart Defects, Congenital - metabolism | Mice | Mutation | Chromatin - genetics | Polydactyly - pathology | Chromatin | Bardet-Biedl syndrome | Genetic aspects | Gene mutations | Health aspects | Heart | Pediatrics | Profiling | Transcription | Funding | Retinitis pigmentosa | Disorders | Transgenic | Cardiovascular disease | Biology | Remodeling | Nuclei | Defects | Proteins | Localization | Heart diseases | Cilia | Genetic disorders | Congenital diseases | Zebrafish | Roles | Gene expression | Patients | Coronary artery disease | Chromatin remodeling | Medicine | Alleles | McKusick-Kaufman syndrome | Genetic engineering | Retinitis | Transport | Position (location) | Cytoplasm | Index Medicus
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2010, Volume 6, Issue 3, pp. e1000884 - e1000884
Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3 (ARL6),... 
DANIO-RERIO | HUMAN OBESITY SYNDROME | VERTEBRATE PHOTORECEPTORS | MOUSE MODEL | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | GENE-EXPRESSION ANALYSIS | GTP-BINDING PROTEINS | HOMEOBOX GENE | INTRAFLAGELLAR TRANSPORT PROTEIN | CILIA DEFECTS | Organ Specificity - drug effects | Ganglia - metabolism | Humans | Photoreceptor Cells, Vertebrate - drug effects | Molecular Sequence Data | Protein Transport - drug effects | Vision, Ocular - drug effects | RNA, Messenger - metabolism | Gene Knockdown Techniques | Protein Isoforms - metabolism | Mice, Mutant Strains | Protein Isoforms - chemistry | Bardet-Biedl Syndrome - pathology | Rod Opsins - metabolism | Reflex, Startle - drug effects | Bardet-Biedl Syndrome - genetics | ADP-Ribosylation Factors - metabolism | ADP-Ribosylation Factors - genetics | Bardet-Biedl Syndrome - complications | Amino Acid Sequence | Oligonucleotides, Antisense - pharmacology | Zebrafish Proteins - chemistry | Zebrafish Proteins - metabolism | RNA, Messenger - genetics | Zebrafish | Ganglia - pathology | Bardet-Biedl Syndrome - physiopathology | ADP-Ribosylation Factors - deficiency | Gene Expression Regulation - drug effects | Ganglia - drug effects | ADP-Ribosylation Factors - chemistry | Phenotype | Animals | Eye Abnormalities - pathology | Eye Abnormalities - physiopathology | Mice | Photoreceptor Cells, Vertebrate - metabolism | Zebrafish Proteins - genetics | Photoreceptor Cells, Vertebrate - pathology | Eye Abnormalities - complications | Protein Isoforms - genetics | Retinal degeneration | Physiological aspects | Development and progression | Genetic aspects | Genetic transcription | Vision | Index Medicus | Proteins | Hypertension | Obesity | Genotype & phenotype | Scholarships & fellowships | Genes | Colleges & universities | Retina | Diabetes | Eyes & eyesight | Embryos | Defects
Journal Article
Developmental Biology, ISSN 0012-1606, 08/2011, Volume 356, Issue 1, pp. 140 - 140
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/2011, Volume 108, Issue 7, pp. 2759 - 2764
Sensory and signaling pathways are exquisitely organized in primary cilia. Bardet-Biedl syndrome (BBS) patients have compromised cilia and signaling. BBS... 
Yeasts | Starvation | Microscopy | Melanosomes | Imaging | Centrosomes | Cell lines | Cell membranes | Embryos | Cilia
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2010, Volume 6, Issue 3
Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3 (ARL6),... 
Retinal degeneration | Physiological aspects | Development and progression | Genetic aspects | Genetic transcription | Vision
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2010, Volume 6, Issue 3
  Bardet-Biedl Syndrome (BBS) is a heterogeneous syndromic form of retinal degeneration. We have identified a novel transcript of a known BBS gene, BBS3... 
Proteins | Hypertension | Obesity | Genotype & phenotype | Scholarships & fellowships | Genes | Colleges & universities | Retina | Diabetes | Eyes & eyesight | Embryos | Defects
Journal Article