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Nature Medicine, ISSN 1078-8956, 12/2012, Volume 18, Issue 12, p. 1797
  Hydrocephalus is a common neurological disorder that leads to expansion of the cerebral ventricles and is associated with a high rate of morbidity and... 
Neonatal care | Neural networks | Rodents | Models | Cells
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2011, Volume 121, Issue 9, pp. 3542 - 3553
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2017, Volume 13, Issue 10, pp. e1007057 - e1007057
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2004, Volume 101, Issue 47, pp. 16588 - 16593
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
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2007, Volume 104, Issue 49, pp. 19422 - 19427
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2006, Volume 103, Issue 16, pp. 6287 - 6292
Journal Article
Journal of Cell Science, ISSN 0021-9533, 03/2019, Volume 132, Issue 5, p. jcs222331
Bardet-Beidl syndrome (BBS) manifests from genetic mutations encoding for one or more BBS proteins. BBS4 loss impacts olfactory ciliation and odor detection,... 
Intraflagellar transport | Gene therapy | Olfactory cilia | Peripheral olfactory system | Basal body | Bardet–Biedl syndrome | PROGENITOR CELLS | SYNDROME PROTEIN COMPLEX | Bardet-Biedl syndrome | SENSORY CILIA | CELL BIOLOGY | CARGO | GENE | IFT PARTICLES | MOUSE MODEL | BARDET-BIEDL-SYNDROME | BBSOME | TYROSINE-HYDROXYLASE EXPRESSION
Journal Article
Molecular Therapy, ISSN 1525-0016, 04/2017, Volume 25, Issue 4, pp. 904 - 916
Olfactory dysfunction is a pervasive but underappreciated health concern that affects personal safety and quality of life. Patients with olfactory dysfunctions... 
BBS1 | gene therapy | Bardet-Biedl syndrome | cilia | olfactory sensory neuron | olfactory | MEDICINE, RESEARCH & EXPERIMENTAL | ADENOASSOCIATED VIRUS | SENSORY NEURONS | CILIA DEFECTS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | SYNDROME PROTEINS | MICE | QUANTITATIVE FREEZE-FRACTURE | BBSOME | TYROSINE-HYDROXYLASE EXPRESSION | INTRAFLAGELLAR TRANSPORT | Dependovirus - genetics | Genetic Therapy | Genetic Vectors - administration & dosage | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Bardet-Biedl Syndrome - therapy | Olfactory Perception - genetics | Bardet-Biedl Syndrome - genetics | Disease Models, Animal | Gene Transfer Techniques | Gene Expression | Cilia - pathology | Transduction, Genetic | Ectopic Gene Expression | Bardet-Biedl Syndrome - physiopathology | Cilia - metabolism | Genetic Vectors - genetics | Olfactory Receptor Neurons - metabolism | Mice, Knockout | Protein Transport | Phenotype | Animals | Alleles | Mice | Mutation | Disease | Cytology | Recovery of function | Biosynthesis | Mammals | Quality of life | Proteins | Sensory evaluation | Adenoviruses | Olfaction | Conflicts of interest | Sensory neurons | Serotypes | Olfactory receptor neurons | Gene therapy | Protein transport | Localization | Odor | Cilia | Index Medicus | Original
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
Nature Medicine, ISSN 1078-8956, 12/2012, Volume 18, Issue 12, pp. 1797 - 1804
Journal Article