PubMed:18796596 JSONTXT

Annnotations TAB JSON ListView MergeView

    PMID_GLOBAL

    {"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":38,"end":46},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":98,"end":121},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":123,"end":126},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":211,"end":235},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":237,"end":240},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":257,"end":260},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":357,"end":365},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":367,"end":373},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T13","span":{"begin":382,"end":388},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T14","span":{"begin":450,"end":456},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T15","span":{"begin":515,"end":521},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T16","span":{"begin":658,"end":690},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T17","span":{"begin":692,"end":696},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T18","span":{"begin":710,"end":716},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T19","span":{"begin":721,"end":725},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T20","span":{"begin":816,"end":819},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T22","span":{"begin":846,"end":850},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T23","span":{"begin":855,"end":891},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0005336"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0010857"},{"id":"A3","pred":"mondo_id","subj":"T2","obj":"0017276"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0010121"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0010857"},{"id":"A6","pred":"mondo_id","subj":"T5","obj":"0017276"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"0010857"},{"id":"A8","pred":"mondo_id","subj":"T7","obj":"0017276"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"0010857"},{"id":"A10","pred":"mondo_id","subj":"T9","obj":"0017276"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0005336"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"0000507"},{"id":"A13","pred":"mondo_id","subj":"T13","obj":"0000507"},{"id":"A14","pred":"mondo_id","subj":"T14","obj":"0000507"},{"id":"A15","pred":"mondo_id","subj":"T15","obj":"0000507"},{"id":"A16","pred":"mondo_id","subj":"T16","obj":"0007827"},{"id":"A17","pred":"mondo_id","subj":"T17","obj":"0007827"},{"id":"A18","pred":"mondo_id","subj":"T18","obj":"0000507"},{"id":"A19","pred":"mondo_id","subj":"T19","obj":"0007827"},{"id":"A20","pred":"mondo_id","subj":"T20","obj":"0010857"},{"id":"A21","pred":"mondo_id","subj":"T20","obj":"0017276"},{"id":"A22","pred":"mondo_id","subj":"T22","obj":"0007827"},{"id":"A23","pred":"mondo_id","subj":"T23","obj":"0007827"}],"text":"TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.\nTAR DNA binding protein-43 (TDP-43) is found in ubiquitinated inclusions (UBIs) in some frontotemporal dementias (FTD-U). One form of FTD-U, due to mutations in the valosin containing protein (VCP) gene, occurs with an inclusion body myopathy (IBMPFD). Since IBMPFD brain has TDP-43 in UBIs, we looked for TDP-43 inclusions in IBMPFD muscle. In normal muscle, TDP-43 is present in nuclei. In IBMPFD muscle, TDP-43 is additionally present as large inclusions within UBIs in muscle cytoplasm. TDP-43 inclusions were also found in 78% of sporadic inclusion body myositis (sIBM) muscles. In IBMPFD and sIBM muscle, TDP-43 migrated with an additional band on immunoblot similar to that reported in FTD-U brains. This study adds sIBM and hereditary inclusion body myopathies to the growing list of TDP-43 positive inclusion diseases."}

    DisGeNET

    {"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":915,"end":921},"obj":"gene:23435"},{"id":"T1","span":{"begin":846,"end":850},"obj":"disease:C0751713"},{"id":"T2","span":{"begin":915,"end":921},"obj":"gene:23435"},{"id":"T3","span":{"begin":881,"end":891},"obj":"disease:C0026848"},{"id":"T4","span":{"begin":915,"end":921},"obj":"gene:23435"},{"id":"T5","span":{"begin":931,"end":949},"obj":"disease:C0010823"}],"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"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.\nTAR DNA binding protein-43 (TDP-43) is found in ubiquitinated inclusions (UBIs) in some frontotemporal dementias (FTD-U). One form of FTD-U, due to mutations in the valosin containing protein (VCP) gene, occurs with an inclusion body myopathy (IBMPFD). Since IBMPFD brain has TDP-43 in UBIs, we looked for TDP-43 inclusions in IBMPFD muscle. In normal muscle, TDP-43 is present in nuclei. In IBMPFD muscle, TDP-43 is additionally present as large inclusions within UBIs in muscle cytoplasm. TDP-43 inclusions were also found in 78% of sporadic inclusion body myositis (sIBM) muscles. In IBMPFD and sIBM muscle, TDP-43 migrated with an additional band on immunoblot similar to that reported in FTD-U brains. This study adds sIBM and hereditary inclusion body myopathies to the growing list of TDP-43 positive inclusion diseases."}

    DisGeNET5_gene_disease

    {"project":"DisGeNET5_gene_disease","denotations":[{"id":"18796596-0#0#6#gene23435","span":{"begin":0,"end":6},"obj":"gene23435"},{"id":"18796596-0#0#6#gene23435","span":{"begin":0,"end":6},"obj":"gene23435"},{"id":"18796596-0#98#121#diseaseC0236642","span":{"begin":98,"end":121},"obj":"diseaseC0236642"},{"id":"18796596-0#98#121#diseaseC0338451","span":{"begin":98,"end":121},"obj":"diseaseC0338451"},{"id":"18796596-0#38#46#diseaseC0026848","span":{"begin":38,"end":46},"obj":"diseaseC0026848"},{"id":"18796596-2#43#69#gene7415","span":{"begin":288,"end":314},"obj":"gene7415"},{"id":"18796596-2#71#74#gene7415","span":{"begin":316,"end":319},"obj":"gene7415"},{"id":"18796596-2#112#120#diseaseC0026848","span":{"begin":357,"end":365},"obj":"diseaseC0026848"},{"id":"18796596-2#122#128#diseaseC1833662","span":{"begin":367,"end":373},"obj":"diseaseC1833662"},{"id":"18796596-3#53#59#gene23435","span":{"begin":429,"end":435},"obj":"gene23435"},{"id":"18796596-3#74#80#diseaseC1833662","span":{"begin":450,"end":456},"obj":"diseaseC1833662"},{"id":"18796596-8#85#91#gene23435","span":{"begin":915,"end":921},"obj":"gene23435"},{"id":"18796596-8#16#20#diseaseC0751713","span":{"begin":846,"end":850},"obj":"diseaseC0751713"},{"id":"18796596-8#101#119#diseaseC0010823","span":{"begin":931,"end":949},"obj":"diseaseC0010823"}],"relations":[{"id":"0#6#gene2343598#121#diseaseC0236642","pred":"associated_with","subj":"18796596-0#0#6#gene23435","obj":"18796596-0#98#121#diseaseC0236642"},{"id":"0#6#gene2343598#121#diseaseC0338451","pred":"associated_with","subj":"18796596-0#0#6#gene23435","obj":"18796596-0#98#121#diseaseC0338451"},{"id":"0#6#gene2343538#46#diseaseC0026848","pred":"associated_with","subj":"18796596-0#0#6#gene23435","obj":"18796596-0#38#46#diseaseC0026848"},{"id":"0#6#gene2343598#121#diseaseC0236642","pred":"associated_with","subj":"18796596-0#0#6#gene23435","obj":"18796596-0#98#121#diseaseC0236642"},{"id":"0#6#gene2343598#121#diseaseC0338451","pred":"associated_with","subj":"18796596-0#0#6#gene23435","obj":"18796596-0#98#121#diseaseC0338451"},{"id":"0#6#gene2343538#46#diseaseC0026848","pred":"associated_with","subj":"18796596-0#0#6#gene23435","obj":"18796596-0#38#46#diseaseC0026848"},{"id":"43#69#gene7415112#120#diseaseC0026848","pred":"associated_with","subj":"18796596-2#43#69#gene7415","obj":"18796596-2#112#120#diseaseC0026848"},{"id":"43#69#gene7415122#128#diseaseC1833662","pred":"associated_with","subj":"18796596-2#43#69#gene7415","obj":"18796596-2#122#128#diseaseC1833662"},{"id":"71#74#gene7415112#120#diseaseC0026848","pred":"associated_with","subj":"18796596-2#71#74#gene7415","obj":"18796596-2#112#120#diseaseC0026848"},{"id":"71#74#gene7415122#128#diseaseC1833662","pred":"associated_with","subj":"18796596-2#71#74#gene7415","obj":"18796596-2#122#128#diseaseC1833662"},{"id":"53#59#gene2343574#80#diseaseC1833662","pred":"associated_with","subj":"18796596-3#53#59#gene23435","obj":"18796596-3#74#80#diseaseC1833662"},{"id":"85#91#gene2343516#20#diseaseC0751713","pred":"associated_with","subj":"18796596-8#85#91#gene23435","obj":"18796596-8#16#20#diseaseC0751713"},{"id":"85#91#gene23435101#119#diseaseC0010823","pred":"associated_with","subj":"18796596-8#85#91#gene23435","obj":"18796596-8#101#119#diseaseC0010823"}],"text":"TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia.\nTAR DNA binding protein-43 (TDP-43) is found in ubiquitinated inclusions (UBIs) in some frontotemporal dementias (FTD-U). One form of FTD-U, due to mutations in the valosin containing protein (VCP) gene, occurs with an inclusion body myopathy (IBMPFD). Since IBMPFD brain has TDP-43 in UBIs, we looked for TDP-43 inclusions in IBMPFD muscle. In normal muscle, TDP-43 is present in nuclei. In IBMPFD muscle, TDP-43 is additionally present as large inclusions within UBIs in muscle cytoplasm. TDP-43 inclusions were also found in 78% of sporadic inclusion body myositis (sIBM) muscles. In IBMPFD and sIBM muscle, TDP-43 migrated with an additional band on immunoblot similar to that reported in FTD-U brains. This study adds sIBM and hereditary inclusion body myopathies to the growing list of TDP-43 positive inclusion diseases."}