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PLoS genetics, ISSN 1553-7404, 10/2015, Volume 11, Issue 10, pp. e1005575 - e1005575
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Polycystic Kidney Diseases - genetics | Retina - metabolism | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Mixed Function Oxygenases - metabolism | rab GTP-Binding Proteins - genetics | Cerebellum - abnormalities | Encephalocele - metabolism | Gene Knockdown Techniques | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Kidney Diseases, Cystic - genetics | Nuclear Proteins - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Encephalocele - genetics | rab GTP-Binding Proteins - metabolism | Polycystic Kidney Diseases - metabolism | Cilia - pathology | Signal Transduction | Cerebellum - metabolism | Nuclear Proteins - metabolism | Zebrafish | Eye Abnormalities - genetics | Cilia - metabolism | Protein Transport - genetics | Cerebellum - pathology | Cilia - genetics | Kidney Diseases, Cystic - pathology | Proteins - genetics | Kidney Diseases, Cystic - metabolism | Animals | Ciliary Motility Disorders - pathology | Proteins - metabolism | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Ciliary Motility Disorders - metabolism | Mutation | Mixed Function Oxygenases - genetics | Retina - pathology | Ciliary Motility Disorders - genetics | Physiological aspects | Phenotype | Cell organelles | Cilia and ciliary motion | Analysis | Index Medicus | Research & development | Proteins | R&D | Signal transduction | Genotype & phenotype | Photoreceptors | Grants | Localization | Experiments | Defects
Journal Article
American journal of human genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 468 - 474
Journal Article
Journal of medical genetics, ISSN 0022-2593, 08/2015, Volume 52, Issue 8, pp. 514 - 522
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 09/2015, Volume 125, Issue 9, pp. 3657 - 3666
Juvenile ciliopathy syndromes that are associated with renal cysts and premature renal failure are commonly the result of mutations in the gene encoding... 
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Retina - metabolism | Kidney - pathology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Cerebellum - abnormalities | Neoplasm Proteins - metabolism | Centrioles - pathology | Kidney - metabolism | Antigens, Neoplasm - metabolism | Kidney Diseases, Cystic - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Cell Line | Zebrafish Proteins - metabolism | Cerebellum - metabolism | DNA Replication | Nuclear Proteins - metabolism | Eye Abnormalities - genetics | Zebrafish - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Kidney Diseases, Cystic - metabolism | Animals | Eye Abnormalities - pathology | Zebrafish - metabolism | Centrioles - genetics | Retina - abnormalities | Mice | Centrioles - metabolism | DNA Damage | Zebrafish Proteins - genetics | Retina - pathology | Physiological aspects | Cellular proteins | DNA replication | Research | Joubert syndrome | Risk factors | Mutation | Kinases | DNA damage | Rodents | Cell cycle | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
American journal of human genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | Congenital ataxia | Hypomorphic variants | Developmental defects | Ciliopathies | Polymicrogyria | Molar tooth sign | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 05/2015, Volume 112, Issue 18, pp. E2395 - E2402
Journal Article