PubMed:10878391 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10878391","sourcedb":"PubMed","sourceid":"10878391","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10878391","text":"Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells.\nThe Wiskott-Aldrich syndrome (WAS) is caused by defects in the WAS protein (WASP) gene on the X chromosome. Previous study disclosed that flow cytometric analysis of intracellular WASP expression (FCM-WASP analysis) in lymphocytes was useful for the diagnosis of WAS patients. Lymphocytes from all WAS patients showed WASPdim instead of WASPbright. Here we report that FCM-WASP analysis in monocytes could be a useful tool for the WAS carrier diagnosis. Monocytes from all nine WAS carriers showed varied population of WASPdim together with WASPbright. None of control individuals possessed the WASPdim population. In contrast, lymphocytes from all the carriers except two lacked the WASPdim population. The difference of the WASPdim population in monocytes and lymphocytes observed in WAS carriers suggests that WASP plays a more critical role in the development of lymphocytes than in that of monocytes. The present studies suggest that a skewed X-chromosomal inactivation pattern observed in WAS carrier peripheral blood cells is not fixed at the hemopoietic stem cell level but progresses after the lineage commitment.","tracks":[{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":40,"end":64},"obj":"SpecificDisease:D014923"},{"id":"T2","span":{"begin":96,"end":120},"obj":"Modifier:D014923"},{"id":"T3","span":{"begin":183,"end":207},"obj":"SpecificDisease:D014923"},{"id":"T4","span":{"begin":209,"end":212},"obj":"SpecificDisease:D014923"},{"id":"T5","span":{"begin":242,"end":245},"obj":"Modifier:D014923"},{"id":"T6","span":{"begin":442,"end":445},"obj":"Modifier:D014923"},{"id":"T7","span":{"begin":477,"end":480},"obj":"Modifier:D014923"},{"id":"T8","span":{"begin":610,"end":613},"obj":"Modifier:D014923"},{"id":"T9","span":{"begin":657,"end":660},"obj":"Modifier:D014923"},{"id":"T10","span":{"begin":965,"end":968},"obj":"Modifier:D014923"},{"id":"T11","span":{"begin":1174,"end":1177},"obj":"Modifier:D014923"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T2","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T3","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T4","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T5","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T6","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T7","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T8","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T9","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T10","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T11","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":548,"end":551},"obj":"gene:8996"},{"id":"T1","span":{"begin":610,"end":613},"obj":"disease:C0043194"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10878391-0#96#128#gene7454","span":{"begin":96,"end":128},"obj":"gene7454"},{"id":"10878391-0#40#64#diseaseC0043194","span":{"begin":40,"end":64},"obj":"diseaseC0043194"},{"id":"10878391-4#20#23#gene8996","span":{"begin":548,"end":551},"obj":"gene8996"},{"id":"10878391-4#82#85#diseaseC0043194","span":{"begin":610,"end":613},"obj":"diseaseC0043194"}],"relations":[{"id":"96#128#gene745440#64#diseaseC0043194","pred":"associated_with","subj":"10878391-0#96#128#gene7454","obj":"10878391-0#40#64#diseaseC0043194"},{"id":"20#23#gene899682#85#diseaseC0043194","pred":"associated_with","subj":"10878391-4#20#23#gene8996","obj":"10878391-4#82#85#diseaseC0043194"}],"attributes":[{"subj":"10878391-0#96#128#gene7454","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10878391-0#40#64#diseaseC0043194","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10878391-4#20#23#gene8996","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10878391-4#82#85#diseaseC0043194","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"NCBI-Disease-Train","denotations":[{"id":"T912","span":{"begin":40,"end":64},"obj":"SpecificDisease"},{"id":"T913","span":{"begin":96,"end":120},"obj":"Modifier"},{"id":"T914","span":{"begin":183,"end":207},"obj":"SpecificDisease"},{"id":"T915","span":{"begin":209,"end":212},"obj":"SpecificDisease"},{"id":"T916","span":{"begin":242,"end":245},"obj":"Modifier"},{"id":"T917","span":{"begin":442,"end":445},"obj":"Modifier"},{"id":"T918","span":{"begin":477,"end":480},"obj":"Modifier"},{"id":"T919","span":{"begin":610,"end":613},"obj":"Modifier"},{"id":"T920","span":{"begin":657,"end":660},"obj":"Modifier"},{"id":"T921","span":{"begin":965,"end":968},"obj":"Modifier"},{"id":"T922","span":{"begin":1174,"end":1177},"obj":"Modifier"}],"attributes":[{"id":"A912","pred":"database_id","subj":"T912","obj":"D014923"},{"id":"A913","pred":"database_id","subj":"T913","obj":"D014923"},{"id":"A914","pred":"database_id","subj":"T914","obj":"D014923"},{"id":"A915","pred":"database_id","subj":"T915","obj":"D014923"},{"id":"A916","pred":"database_id","subj":"T916","obj":"D014923"},{"id":"A917","pred":"database_id","subj":"T917","obj":"D014923"},{"id":"A918","pred":"database_id","subj":"T918","obj":"D014923"},{"id":"A919","pred":"database_id","subj":"T919","obj":"D014923"},{"id":"A920","pred":"database_id","subj":"T920","obj":"D014923"},{"id":"A921","pred":"database_id","subj":"T921","obj":"D014923"},{"id":"A922","pred":"database_id","subj":"T922","obj":"D014923"},{"subj":"T912","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T913","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T914","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T915","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T916","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T917","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T918","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T919","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T920","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T921","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T922","pred":"source","obj":"NCBI-Disease-Train"}]},{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T912","span":{"begin":40,"end":64},"obj":"SpecificDisease"},{"id":"T913","span":{"begin":96,"end":120},"obj":"Modifier"},{"id":"T914","span":{"begin":183,"end":207},"obj":"SpecificDisease"},{"id":"T915","span":{"begin":209,"end":212},"obj":"SpecificDisease"},{"id":"T916","span":{"begin":242,"end":245},"obj":"Modifier"},{"id":"T917","span":{"begin":442,"end":445},"obj":"Modifier"},{"id":"T918","span":{"begin":477,"end":480},"obj":"Modifier"},{"id":"T919","span":{"begin":610,"end":613},"obj":"Modifier"},{"id":"T920","span":{"begin":657,"end":660},"obj":"Modifier"},{"id":"T921","span":{"begin":965,"end":968},"obj":"Modifier"},{"id":"T922","span":{"begin":1174,"end":1177},"obj":"Modifier"}],"attributes":[{"id":"A912","pred":"database_id","subj":"T912","obj":"D014923"},{"id":"A913","pred":"database_id","subj":"T913","obj":"D014923"},{"id":"A914","pred":"database_id","subj":"T914","obj":"D014923"},{"id":"A915","pred":"database_id","subj":"T915","obj":"D014923"},{"id":"A916","pred":"database_id","subj":"T916","obj":"D014923"},{"id":"A917","pred":"database_id","subj":"T917","obj":"D014923"},{"id":"A918","pred":"database_id","subj":"T918","obj":"D014923"},{"id":"A919","pred":"database_id","subj":"T919","obj":"D014923"},{"id":"A920","pred":"database_id","subj":"T920","obj":"D014923"},{"id":"A921","pred":"database_id","subj":"T921","obj":"D014923"},{"id":"A922","pred":"database_id","subj":"T922","obj":"D014923"},{"subj":"T912","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T913","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T914","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T915","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T916","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T917","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T918","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T919","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T920","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T921","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T922","pred":"source","obj":"NCBI-Disease-Corpus-All"}]},{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":40,"end":64},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":120},"obj":"Modifier"},{"id":"T3","span":{"begin":183,"end":207},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":209,"end":212},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":242,"end":245},"obj":"Modifier"},{"id":"T6","span":{"begin":255,"end":259},"obj":"Modifier"},{"id":"T7","span":{"begin":359,"end":363},"obj":"Modifier"},{"id":"T8","span":{"begin":380,"end":384},"obj":"Modifier"},{"id":"T9","span":{"begin":442,"end":445},"obj":"SpecificDisease"},{"id":"T10","span":{"begin":477,"end":480},"obj":"SpecificDisease"},{"id":"T11","span":{"begin":497,"end":501},"obj":"Modifier"},{"id":"T12","span":{"begin":516,"end":520},"obj":"Modifier"},{"id":"T13","span":{"begin":552,"end":556},"obj":"Modifier"},{"id":"T14","span":{"begin":610,"end":613},"obj":"Modifier"},{"id":"T15","span":{"begin":657,"end":660},"obj":"SpecificDisease"},{"id":"T16","span":{"begin":698,"end":702},"obj":"Modifier"},{"id":"T17","span":{"begin":720,"end":724},"obj":"Modifier"},{"id":"T18","span":{"begin":774,"end":778},"obj":"Modifier"},{"id":"T19","span":{"begin":863,"end":867},"obj":"Modifier"},{"id":"T20","span":{"begin":905,"end":909},"obj":"Modifier"},{"id":"T21","span":{"begin":965,"end":968},"obj":"SpecificDisease"},{"id":"T22","span":{"begin":992,"end":996},"obj":"Modifier"},{"id":"T23","span":{"begin":1174,"end":1177},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T7","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T8","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T9","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T10","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T11","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T12","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T13","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T14","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T15","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T16","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T17","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T18","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T19","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T20","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T21","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T22","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T23","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"}]},{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":40,"end":64},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":120},"obj":"Modifier"},{"id":"T3","span":{"begin":183,"end":207},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"}]},{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":40,"end":64},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":183,"end":213},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":442,"end":454},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":477,"end":489},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"}]},{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":40,"end":64},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":120},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":183,"end":213},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"NCBIDiseaseCorpus","color":"#93ecdf","default":true},{"id":"DisGeNET","color":"#ecc593"},{"id":"DisGeNET5_gene_disease","color":"#ab93ec"},{"id":"NCBI-Disease-Train","color":"#94ec93"},{"id":"NCBI-Disease-Corpus-All","color":"#ec93ae"},{"id":"NCBI-Disease-Corpus-2stage-All","color":"#93c8ec"},{"id":"NCBI-Disease-Corpus-rezarta-All","color":"#e2ec93"},{"id":"NCBI-Disease-Corpus-4oGuideline-All","color":"#dc93ec"},{"id":"NCBI-Disease-Corpus-Simple-All","color":"#93ecc1"}]}]}}