PubMed:9489699 JSONTXT

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"9489699-3#101#113#gene1641","span":{"begin":515,"end":527},"obj":"gene1641"},{"id":"9489699-3#175#178#diseaseC0266463","span":{"begin":589,"end":592},"obj":"diseaseC0266463"}],"relations":[{"id":"101#113#gene1641175#178#diseaseC0266463","pred":"associated_with","subj":"9489699-3#101#113#gene1641","obj":"9489699-3#175#178#diseaseC0266463"}],"text":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.\nX-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion."}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":74,"end":105},"obj":"Disease"},{"id":"T3","span":{"begin":110,"end":123},"obj":"Disease"},{"id":"T4","span":{"begin":141,"end":144},"obj":"Disease"},{"id":"T5","span":{"begin":248,"end":279},"obj":"Disease"},{"id":"T7","span":{"begin":287,"end":303},"obj":"Disease"},{"id":"T8","span":{"begin":308,"end":321},"obj":"Disease"},{"id":"T9","span":{"begin":338,"end":351},"obj":"Disease"},{"id":"T10","span":{"begin":353,"end":356},"obj":"Disease"},{"id":"T11","span":{"begin":379,"end":387},"obj":"Disease"},{"id":"T12","span":{"begin":589,"end":592},"obj":"Disease"},{"id":"T13","span":{"begin":899,"end":912},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0011830"},{"id":"A2","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0020491"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0018838"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/MONDO_0018838"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0011830"},{"id":"A6","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0020491"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0020491"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/MONDO_0020491"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/MONDO_0018838"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"http://purl.obolibrary.org/obo/MONDO_0018838"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"http://purl.obolibrary.org/obo/MONDO_0005027"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"http://purl.obolibrary.org/obo/MONDO_0018838"},{"id":"A13","pred":"mondo_id","subj":"T13","obj":"http://purl.obolibrary.org/obo/MONDO_0018838"}],"text":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.\nX-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion."}

{"project":"Anatomy-MAT","denotations":[{"id":"T1","span":{"begin":361,"end":366},"obj":"Body_part"},{"id":"T2","span":{"begin":793,"end":798},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"mat_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MAT_0000029"},{"id":"A2","pred":"mat_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MAT_0000098"}],"text":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.\nX-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion."}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":94,"end":105},"obj":"Phenotype"},{"id":"T2","span":{"begin":110,"end":123},"obj":"Phenotype"},{"id":"T3","span":{"begin":141,"end":144},"obj":"Phenotype"},{"id":"T4","span":{"begin":159,"end":186},"obj":"Phenotype"},{"id":"T5","span":{"begin":268,"end":279},"obj":"Phenotype"},{"id":"T6","span":{"begin":292,"end":303},"obj":"Phenotype"},{"id":"T7","span":{"begin":338,"end":351},"obj":"Phenotype"},{"id":"T8","span":{"begin":353,"end":356},"obj":"Phenotype"},{"id":"T9","span":{"begin":379,"end":387},"obj":"Phenotype"},{"id":"T10","span":{"begin":392,"end":412},"obj":"Phenotype"},{"id":"T11","span":{"begin":589,"end":592},"obj":"Phenotype"},{"id":"T12","span":{"begin":899,"end":912},"obj":"Phenotype"},{"id":"T13","span":{"begin":917,"end":928},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0002282"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0001339"},{"id":"A3","pred":"hp_id","subj":"T3","obj":"HP:0001339"},{"id":"A4","pred":"hp_id","subj":"T4","obj":"HP:0002269"},{"id":"A5","pred":"hp_id","subj":"T5","obj":"HP:0002282"},{"id":"A6","pred":"hp_id","subj":"T6","obj":"HP:0002282"},{"id":"A7","pred":"hp_id","subj":"T7","obj":"HP:0001339"},{"id":"A8","pred":"hp_id","subj":"T8","obj":"HP:0001339"},{"id":"A9","pred":"hp_id","subj":"T9","obj":"HP:0001250"},{"id":"A10","pred":"hp_id","subj":"T10","obj":"HP:0100543"},{"id":"A11","pred":"hp_id","subj":"T11","obj":"HP:0001339"},{"id":"A12","pred":"hp_id","subj":"T12","obj":"HP:0001339"},{"id":"A13","pred":"hp_id","subj":"T13","obj":"HP:0002282"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.\nX-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion."}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":214,"end":231},"obj":"Body_part"},{"id":"T2","span":{"begin":315,"end":321},"obj":"Body_part"},{"id":"T3","span":{"begin":670,"end":677},"obj":"Body_part"},{"id":"T4","span":{"begin":793,"end":798},"obj":"Body_part"},{"id":"T6","span":{"begin":993,"end":999},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0002301"},{"id":"A2","pred":"uberon_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/UBERON_0001851"},{"id":"A3","pred":"uberon_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/UBERON_0000914"},{"id":"A4","pred":"uberon_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/UBERON_0000955"},{"id":"A5","pred":"uberon_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/UBERON_6110636"},{"id":"A6","pred":"uberon_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/CL_0000540"}],"text":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.\nX-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion."}

{"project":"CL-cell","denotations":[{"id":"T1","span":{"begin":30,"end":38},"obj":"Cell"},{"id":"T2","span":{"begin":159,"end":167},"obj":"Cell"},{"id":"T3","span":{"begin":287,"end":291},"obj":"Cell"},{"id":"T4","span":{"begin":828,"end":835},"obj":"Cell"},{"id":"T5","span":{"begin":993,"end":999},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0000540"},{"id":"A2","pred":"cl_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/CL:0000540"},{"id":"A3","pred":"cl_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/CL:0000560"},{"id":"A4","pred":"cl_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/CL:0000540"},{"id":"A5","pred":"cl_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/CL:0000540"}],"text":"A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.\nX-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion."}