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Glia, ISSN 0894-1491, 09/2018, Volume 66, Issue 9, pp. 1929 - 1946
Sox2 is a transcription factor active in the nervous system, within different cell types, ranging from radial glia neural stem cells to a few specific types of... 
Sox2 | ataxia | Bergmann glia | transcription factors | mouse genetic models | cerebellum | EXOCYTOTIC RELEASE | GLUTAMATE RELEASE | TRANSPORTERS | MID/HINDBRAIN ORGANIZER | SPINAL-CORD | NEURODEGENERATION | AMYOTROPHIC-LATERAL-SCLEROSIS | NEUROSCIENCES | NEURAL STEM-CELLS | EXPRESSION | BRAIN | Animals, Newborn | Cerebellar Vermis - growth & development | Cerebellar Vermis - metabolism | Synaptic Transmission - physiology | Neuroglia - pathology | Homeodomain Proteins - metabolism | Cells, Cultured | Gene Expression Regulation - physiology | Otx Transcription Factors - metabolism | Mice, Transgenic | Neural Stem Cells - pathology | SOXB1 Transcription Factors - metabolism | Animals | SOXB1 Transcription Factors - genetics | Neuroglia - metabolism | Glutamic Acid - metabolism | Mutation | Ataxia - metabolism | Cerebellar Vermis - pathology | Neural Stem Cells - metabolism | Ataxia - pathology | Animal genetics | Neurosciences | Neurons | Analysis | Stem cells | Genetic aspects | Genetic transcription | Cerebellum | Regulators | Deregulation | Transcription factors | Central nervous system | Radial glial cells | Stem cell transplantation | Nervous system | Motor task performance | Neuronal-glial interactions | Defects | Embryogenesis | Clonal deletion | Purkinje cells | Deletion | Ataxia | Otx2 protein | Transgenes | Hypoplasia | Abnormalities | Ablation | Embryos | Mutants | Embryonic growth stage | Neural stem cells | Hippocampus | Index Medicus
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 03/2016, Volume 61, Issue 3, pp. 235 - 239
CHARGE syndrome (OMIM 214800) is a rare autosomal-dominant congenital malformation syndrome that results from haploinsufficiency of the chromodomain helicase... 
PHENOTYPE | CHD7 GENE | MUTATIONS | SPECTRUM | ASSOCIATION | GENETICS & HEREDITY | Genetic Predisposition to Disease | Humans | Child, Preschool | Infant | Male | Young Adult | CHARGE Syndrome - pathology | Adolescent | Female | CHARGE Syndrome - genetics | Cerebellar Vermis - pathology | Child | Infant, Newborn | Republic of Korea
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 824 - 832
The Rab GTPase family comprises ∼70 GTP-binding proteins, functioning in vesicle formation, transport and fusion. They are activated by a conformational change... 
PROTEIN | GTPASES | SPECIFICITY | RECYCLING ENDOSOME | STRUCTURAL BASIS | MEMBRANE | IMAGE-ANALYSIS | GENETICS & HEREDITY | T-CELL LYMPHOMA | CILIOGENESIS | RHOA | Corpus Callosum - metabolism | White Matter - metabolism | Humans | Epilepsy - diagnostic imaging | Child, Preschool | Male | rab GTP-Binding Proteins - genetics | Guanosine Triphosphate - metabolism | Intellectual Disability - genetics | Optic Nerve Diseases - congenital | Optic Nerve Diseases - pathology | Epilepsy - genetics | Female | Guanosine Triphosphate - chemistry | Guanosine Diphosphate - chemistry | Guanosine Diphosphate - metabolism | Binding Sites | Child | rab GTP-Binding Proteins - deficiency | Amino Acid Sequence | Cerebellar Vermis - metabolism | Gene Expression | Muscle Hypotonia - genetics | Muscle Hypotonia - diagnostic imaging | Intellectual Disability - diagnostic imaging | Intellectual Disability - pathology | Models, Molecular | Optic Nerve Diseases - genetics | White Matter - pathology | Cerebellar Vermis - diagnostic imaging | Corpus Callosum - diagnostic imaging | Magnetic Resonance Imaging | Muscle Hypotonia - pathology | Phenotype | White Matter - diagnostic imaging | Optic Nerve Diseases - diagnostic imaging | Corpus Callosum - pathology | Adolescent | Protein Binding | rab GTP-Binding Proteins - chemistry | Mutation | Cerebellar Vermis - pathology | Epilepsy - pathology | Index Medicus | Report
Journal Article
Turkish Neurosurgery, ISSN 1019-5149, 2015, Volume 25, Issue 5, pp. 828 - 830
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 06/2015, Volume 84, Issue 22, pp. 2238 - 2246
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2014, Volume 9, Issue 6, pp. e100204 - e100204
Studies of bipolar disorder (BD) suggest a genetic basis of the illness that alters brain function and morphology. In recent years, a number of genetic... 
FALSE DISCOVERY RATE | GRAY-MATTER VOLUME | CORTICAL THICKNESS | ABNORMALITIES | MULTIDISCIPLINARY SCIENCES | SCHIZOPHRENIA | END RULE PATHWAY | UBIQUITIN LIGASES | MICE LACKING | VOXEL-BASED MORPHOMETRY | GENOME-WIDE ASSOCIATION | Bipolar Disorder - metabolism | Cerebellar Vermis - physiopathology | Multigene Family | Genetic Testing | Humans | Bipolar Disorder - physiopathology | Transcriptome | Gene Expression Profiling | Parahippocampal Gyrus - physiopathology | Temporal Lobe - pathology | Cerebellar Vermis - metabolism | Gene Expression | Genetic Predisposition to Disease | Genome-Wide Association Study | Atlases as Topic | Temporal Lobe - metabolism | Bipolar Disorder - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Magnetic Resonance Imaging | Temporal Lobe - physiopathology | Parahippocampal Gyrus - pathology | Bipolar Disorder - pathology | Brain Mapping | Polymorphism, Single Nucleotide | Models, Neurological | Cerebellar Vermis - pathology | Parahippocampal Gyrus - metabolism | Brain | Genes | Genomics | Genetic research | Bipolar disorder | Genomes | Single nucleotide polymorphisms | Cerebellum | Brain architecture | Veterans | temporal gyrus | Abnormalities | Values | Systematic review | Single-nucleotide polymorphism | Gene expression | Anatomy | Parahippocampal gyrus | Studies | Genetic variance | Brain research | Superior temporal gyrus | Magnetic resonance imaging | Neural networks | Genetic analysis | Psychiatry | Index Medicus
Journal Article