PubMed:11157981 JSONTXT

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":104,"end":119},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":125,"end":140},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":147,"end":173},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":971,"end":986},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":1130,"end":1173},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":1242,"end":1257},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0019187"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0019187"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0000426"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0019187"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0016002"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"0019187"}],"text":"PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.\nThe Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (Plod)-2 gene was enriched for by chromatin precipitation using a PITX2/Pitx2-specific antibody. Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements. We show these elements to bind PITX2 specifically in vitro. The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments. The Rieger syndrome causing PITX2 mutant T68P fails to induce PLOD-1-luciferase. Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]). Several of the same organ systems are involved in Rieger syndrome and EDVI."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"11157981-8#41#45#geners104893858","span":{"begin":1008,"end":1012},"obj":"geners104893858"},{"id":"11157981-8#4#19#diseaseC0265341","span":{"begin":971,"end":986},"obj":"diseaseC0265341"},{"id":"11157981-8#4#19#diseaseC3495488","span":{"begin":971,"end":986},"obj":"diseaseC3495488"}],"relations":[{"id":"41#45#geners1048938584#19#diseaseC0265341","pred":"associated_with","subj":"11157981-8#41#45#geners104893858","obj":"11157981-8#4#19#diseaseC0265341"},{"id":"41#45#geners1048938584#19#diseaseC3495488","pred":"associated_with","subj":"11157981-8#41#45#geners104893858","obj":"11157981-8#4#19#diseaseC3495488"}],"text":"PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.\nThe Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (Plod)-2 gene was enriched for by chromatin precipitation using a PITX2/Pitx2-specific antibody. Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements. We show these elements to bind PITX2 specifically in vitro. The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments. The Rieger syndrome causing PITX2 mutant T68P fails to induce PLOD-1-luciferase. Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]). Several of the same organ systems are involved in Rieger syndrome and EDVI."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"11157981-0#0#5#gene5308","span":{"begin":0,"end":5},"obj":"gene5308"},{"id":"11157981-0#47#51#gene5351","span":{"begin":47,"end":51},"obj":"gene5351"},{"id":"11157981-0#104#119#diseaseC0265341","span":{"begin":104,"end":119},"obj":"diseaseC0265341"},{"id":"11157981-0#104#119#diseaseC3495488","span":{"begin":104,"end":119},"obj":"diseaseC3495488"},{"id":"11157981-0#104#119#diseaseC0265341","span":{"begin":104,"end":119},"obj":"diseaseC0265341"},{"id":"11157981-0#104#119#diseaseC3495488","span":{"begin":104,"end":119},"obj":"diseaseC3495488"},{"id":"11157981-9#32#38#gene5351","span":{"begin":1080,"end":1086},"obj":"gene5351"},{"id":"11157981-9#82#104#diseaseC0013720","span":{"begin":1130,"end":1152},"obj":"diseaseC0013720"},{"id":"11157981-9#106#125#diseaseC0268342","span":{"begin":1154,"end":1173},"obj":"diseaseC0268342"}],"relations":[{"id":"0#5#gene5308104#119#diseaseC0265341","pred":"associated_with","subj":"11157981-0#0#5#gene5308","obj":"11157981-0#104#119#diseaseC0265341"},{"id":"0#5#gene5308104#119#diseaseC3495488","pred":"associated_with","subj":"11157981-0#0#5#gene5308","obj":"11157981-0#104#119#diseaseC3495488"},{"id":"0#5#gene5308104#119#diseaseC0265341","pred":"associated_with","subj":"11157981-0#0#5#gene5308","obj":"11157981-0#104#119#diseaseC0265341"},{"id":"0#5#gene5308104#119#diseaseC3495488","pred":"associated_with","subj":"11157981-0#0#5#gene5308","obj":"11157981-0#104#119#diseaseC3495488"},{"id":"47#51#gene5351104#119#diseaseC0265341","pred":"associated_with","subj":"11157981-0#47#51#gene5351","obj":"11157981-0#104#119#diseaseC0265341"},{"id":"47#51#gene5351104#119#diseaseC3495488","pred":"associated_with","subj":"11157981-0#47#51#gene5351","obj":"11157981-0#104#119#diseaseC3495488"},{"id":"47#51#gene5351104#119#diseaseC0265341","pred":"associated_with","subj":"11157981-0#47#51#gene5351","obj":"11157981-0#104#119#diseaseC0265341"},{"id":"47#51#gene5351104#119#diseaseC3495488","pred":"associated_with","subj":"11157981-0#47#51#gene5351","obj":"11157981-0#104#119#diseaseC3495488"},{"id":"32#38#gene535182#104#diseaseC0013720","pred":"associated_with","subj":"11157981-9#32#38#gene5351","obj":"11157981-9#82#104#diseaseC0013720"},{"id":"32#38#gene5351106#125#diseaseC0268342","pred":"associated_with","subj":"11157981-9#32#38#gene5351","obj":"11157981-9#106#125#diseaseC0268342"}],"text":"PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.\nThe Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (Plod)-2 gene was enriched for by chromatin precipitation using a PITX2/Pitx2-specific antibody. Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements. We show these elements to bind PITX2 specifically in vitro. The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments. The Rieger syndrome causing PITX2 mutant T68P fails to induce PLOD-1-luciferase. Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]). Several of the same organ systems are involved in Rieger syndrome and EDVI."}

{"project":"2015-BEL-Sample-2","denotations":[{"id":"BEL:20070100","span":{"begin":778,"end":965},"obj":"tscript(p(MGI:Pitx2)) directlyIncreases r(MGI:Plod1)"},{"id":"BEL:20070102","span":{"begin":778,"end":965},"obj":"tscript(p(MGI:Pitx2)) directlyIncreases r(MGI:Plod2)"},{"id":"BEL:20070100","span":{"begin":778,"end":965},"obj":"tscript(p(MGI:Pitx2)) directlyIncreases r(MGI:Plod1)"},{"id":"BEL:20070102","span":{"begin":778,"end":965},"obj":"tscript(p(MGI:Pitx2)) directlyIncreases r(MGI:Plod2)"}],"text":"PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.\nThe Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (Plod)-2 gene was enriched for by chromatin precipitation using a PITX2/Pitx2-specific antibody. Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements. We show these elements to bind PITX2 specifically in vitro. The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments. The Rieger syndrome causing PITX2 mutant T68P fails to induce PLOD-1-luciferase. Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]). Several of the same organ systems are involved in Rieger syndrome and EDVI."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":995,"end":1000},"obj":"gene:5308"},{"id":"T1","span":{"begin":971,"end":986},"obj":"disease:C0265341"},{"id":"T2","span":{"begin":995,"end":1000},"obj":"gene:5308"},{"id":"T3","span":{"begin":971,"end":986},"obj":"disease:C3495488"},{"id":"T4","span":{"begin":995,"end":1000},"obj":"gene:5308"},{"id":"T5","span":{"begin":971,"end":986},"obj":"disease:C3495489"},{"id":"T6","span":{"begin":1080,"end":1086},"obj":"gene:5351"},{"id":"T7","span":{"begin":1130,"end":1152},"obj":"disease:C0013720"},{"id":"T8","span":{"begin":1080,"end":1086},"obj":"gene:5351"},{"id":"T9","span":{"begin":1154,"end":1173},"obj":"disease:C0268342"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.\nThe Rieger syndrome is an autosomal dominant disease characterized by ocular, craniofacial, and umbilical defects. Patients have mutations in PITX2, a paired-bicoid homeobox gene, also involved in left/right polarity determination. In this study we have identified a family of genes for enzymes responsible for hydroxylizing lysines in collagens as one group of likely cognate targets of PITX2 transcriptional regulation. The mouse procollagen lysyl hydroxylase (Plod)-2 gene was enriched for by chromatin precipitation using a PITX2/Pitx2-specific antibody. Plod-2, as well as the human PLOD-1 promoters, contains multiple bicoid (PITX2) binding elements. We show these elements to bind PITX2 specifically in vitro. The PLOD-1 promoter induces the expression of a luciferase reporter gene in the presence of PITX2 in cotransfection experiments. The Rieger syndrome causing PITX2 mutant T68P fails to induce PLOD-1-luciferase. Mutations and rearrangements in PLOD-1 are known to be prevalent in patients with Ehlers-Danlos syndrome, kyphoscoliosis type (type VI [EDVI]). Several of the same organ systems are involved in Rieger syndrome and EDVI."}