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The 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 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | 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
DMM Disease Models and Mechanisms, ISSN 1754-8403, 01/2011, Volume 4, Issue 1, pp. 43 - 56
Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We... 
JOUBERT-SYNDROME | MUTANT MICE | FLOOR PLATE | POLYCYSTIC KIDNEY-DISEASE | NODAL FLOW | PLANAR CELL POLARITY | RIGHT AXIS DETERMINATION | LEFT-RIGHT ASYMMETRY | PATHOLOGY | INTRAFLAGELLAR TRANSPORT | BASAL BODY PROTEIN | CELL BIOLOGY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Hair Cells, Auditory - pathology | Epithelial Cells - metabolism | Hedgehog Proteins - metabolism | Molecular Sequence Data | Encephalocele - metabolism | Centrioles - pathology | Neural Tube - pathology | Polycystic Kidney Diseases - pathology | Body Patterning | Cilia - ultrastructure | Fibroblasts - metabolism | Amino Acid Sequence | Polycystic Kidney Diseases - metabolism | Cilia - pathology | Embryo, Mammalian - pathology | Signal Transduction | Epithelial Cells - pathology | Fibroblasts - pathology | Mutation - genetics | Organ Specificity | Cilia - metabolism | Embryo, Mammalian - abnormalities | Kidney Diseases, Cystic - pathology | Protein Transport | Hair Cells, Auditory - ultrastructure | Animals | Ciliary Motility Disorders - pathology | Proteins - metabolism | Encephalocele - pathology | Neural Tube - ultrastructure | Kidney Diseases, Cystic - complications | Mice | Centrioles - metabolism | Ciliary Motility Disorders - metabolism | Proteins - chemistry | Neural Tube - embryology | Neural Tube - abnormalities | Index Medicus
Journal Article
The Lancet, ISSN 0140-6736, 05/2003, Volume 361, Issue 9371, pp. 1773 - 1778
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and... 
VAN-CREVELD-SYNDROME | DYNC2H1 MUTATIONS | GENE | DISEASE | GENETICS & HEREDITY | CILIOPATHY | RIB-POLYDACTYLY SYNDROME | CILIA | KIDNEY | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT PROTEIN | Bone and Bones - pathology | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Intracellular Signaling Peptides and Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Gene Knockdown Techniques | Bone and Bones - metabolism | Kidney Diseases, Cystic - genetics | Ectodermal Dysplasia - pathology | Female | Intracellular Signaling Peptides and Proteins - genetics | Cytoplasmic Dyneins - metabolism | Dyneins - metabolism | Amino Acid Sequence | European Continental Ancestry Group - genetics | Craniosynostoses - genetics | Cytoplasmic Dyneins - genetics | Retinitis Pigmentosa - genetics | Cerebellar Ataxia - pathology | Fibroblasts - pathology | Zebrafish - genetics | Kidney Diseases, Cystic - pathology | Phenotype | Animals | Cerebellar Ataxia - genetics | Epistasis, Genetic | Alleles | Ectodermal Dysplasia - genetics | Dyneins - genetics | Mutation | Bone and Bones - abnormalities | Retinitis Pigmentosa - pathology | Craniosynostoses - pathology | Physiological aspects | Ciliata | Genetic aspects | Research | Gene expression | Biological transport, Active | Proteins | Genotype & phenotype | Zebrafish | Index Medicus | Report
Journal Article
Brain and Development, ISSN 0387-7604, 04/2018, Volume 40, Issue 4, pp. 259 - 267
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 770 - 776
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 12/2017, Volume 26, Issue 23, pp. 4657 - 4667
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multisystem phenotypes, including a... 
LOCALIZATION | ACTIVATION | CILIOPATHIES | PATHWAY | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | LENGTH | GENETICS & HEREDITY | MUTATIONS | CEP290 | CENTROSOMAL PROTEIN | FEATURES | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Polycystic Kidney Diseases - genetics | Retina - metabolism | Epithelial Cells - drug effects | Eye Abnormalities - drug therapy | Humans | Child, Preschool | Kidney Diseases, Cystic - drug therapy | Male | Abnormalities, Multiple - drug therapy | Cerebellum - abnormalities | Neoplasm Proteins - metabolism | Ciliopathies - drug therapy | Cyclin-Dependent Kinase 5 - genetics | Ciliopathies - genetics | Kidney Failure, Chronic - pathology | Antigens, Neoplasm - metabolism | Cilia - drug effects | Kidney Diseases, Cystic - genetics | Roscovitine | Purines - therapeutic use | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Morpholines - therapeutic use | Antigens, Neoplasm - genetics | Cilia - pathology | Signal Transduction | Cerebellum - metabolism | Epithelial Cells - pathology | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Cilia - genetics | Cyclin-Dependent Kinase 5 - metabolism | Kidney Diseases, Cystic - pathology | Kidney Failure, Chronic - metabolism | Kidney Failure, Chronic - genetics | Kidney Diseases, Cystic - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Pedigree | Retina - abnormalities | Mutation | Primary Cell Culture | Retina - pathology | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2012, Volume 109, Issue 42, pp. 16951 - 16956
Joubert syndrome (JS) and Meckel syndrome (MKS) are pleiotropic ciliopathies characterized by severe defects of the cerebellar vermis, ranging from hypoplasia... 
Cerebellum | Hemispheres | Messenger RNA | Neurons | Cell lines | Stem cells | Fetus | Neural stem cells | In situ hybridization | Cilia | Hindbrain | Granular neuron | Developmental pathology | SONIC HEDGEHOG | MULTIDISCIPLINARY SCIENCES | DISORDERS | CELL-PROLIFERATION | hindbrain | BETA-CATENIN | granular neuron | PRIMARY CILIUM | CENTROSOMAL PROTEIN | PROGENITOR POOL | MECKEL-SYNDROME | EXPANSION | cilia | developmental pathology | MOUSE CEREBELLUM | Immunohistochemistry | Retina - metabolism | Cell Proliferation | Humans | Hedgehog Proteins - metabolism | Neoplasm Proteins - metabolism | Encephalocele - metabolism | Cerebellum - embryology | In Situ Hybridization | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Cerebellar Diseases - pathology | RNA Interference | Statistics, Nonparametric | Antigens, Neoplasm - metabolism | Neoplasm Proteins - genetics | Eye Abnormalities - metabolism | Antigens, Neoplasm - genetics | Microscopy, Electron, Transmission | Polycystic Kidney Diseases - metabolism | Cerebellar Diseases - metabolism | Cerebellum - metabolism | Abnormalities, Multiple | Cerebellum - pathology | Granulocyte Precursor Cells - physiology | Kidney Diseases, Cystic - pathology | Kidney Diseases, Cystic - metabolism | Animals | Ciliary Motility Disorders - pathology | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Signal Transduction - physiology | Mice | Ciliary Motility Disorders - metabolism | Retina - pathology | Microscopy, Fluorescence | Cell proliferation | Brain | Joubert syndrome | Physiological aspects | Development and progression | Meckel-Gruber syndrome | Research | Health aspects | Signal transduction | Pathology | Mutation | Rodents | Index Medicus | Biological Sciences
Journal Article