PubMed:2888021 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/2888021","sourcedb":"PubMed","sourceid":"2888021","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/2888021","text":"Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.\nBilateral acoustic neurofibromatosis (BANF) is a severe autosomal dominant disorder involving development of multiple tumours of the nervous system including meningiomas, gliomas, neurofibromas and particularly bilateral acoustic neuromas. We have used genetic linkage analysis with DNA markers to establish that the defective gene causing BANF is on chromosome 22, and is therefore distinct from the gene for the von Recklinghausen form of neurofibromatosis, which maps to chromosome 17. Linked DNA markers will be particularly valuable in BANF, facilitating early detection of tumours and thereby permitting more effective surgical intervention. In view of the reported loss of genes on chromosome 22 in meningiomas and acoustic neuromas, the genetic localization of the primary BANF defect strongly supports the concept that the disease locus encodes a 'tumour suppressor' gene. Isolation of this gene should provide insights into the pathogenesis of acoustic neuromas and other nervous system tumours, as well as into the control of proliferation and differentiation of neural crest cells.","tracks":[{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":109,"end":126},"obj":"HP_0001067"},{"id":"T2","span":{"begin":146,"end":164},"obj":"HP_0000006"},{"id":"T3","span":{"begin":208,"end":215},"obj":"HP_0002664"},{"id":"T4","span":{"begin":208,"end":237},"obj":"HP_0004375"},{"id":"T5","span":{"begin":248,"end":259},"obj":"HP_0002858"},{"id":"T6","span":{"begin":261,"end":268},"obj":"HP_0009733"},{"id":"T7","span":{"begin":270,"end":283},"obj":"HP_0001067"},{"id":"T8","span":{"begin":301,"end":328},"obj":"HP_0009589"},{"id":"T9","span":{"begin":311,"end":328},"obj":"HP_0009588"},{"id":"T10","span":{"begin":320,"end":328},"obj":"HP_0030430"},{"id":"T11","span":{"begin":531,"end":548},"obj":"HP_0001067"},{"id":"T12","span":{"begin":669,"end":676},"obj":"HP_0002664"},{"id":"T13","span":{"begin":796,"end":807},"obj":"HP_0002858"},{"id":"T14","span":{"begin":812,"end":829},"obj":"HP_0009588"},{"id":"T15","span":{"begin":821,"end":829},"obj":"HP_0030430"},{"id":"T16","span":{"begin":947,"end":953},"obj":"HP_0002664"},{"id":"T17","span":{"begin":1044,"end":1061},"obj":"HP_0009588"},{"id":"T18","span":{"begin":1053,"end":1061},"obj":"HP_0030430"},{"id":"T19","span":{"begin":1072,"end":1094},"obj":"HP_0004375"},{"id":"T20","span":{"begin":1087,"end":1094},"obj":"HP_0002664"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T5","pred":"source","obj":"PubmedHPO"},{"subj":"T6","pred":"source","obj":"PubmedHPO"},{"subj":"T7","pred":"source","obj":"PubmedHPO"},{"subj":"T8","pred":"source","obj":"PubmedHPO"},{"subj":"T9","pred":"source","obj":"PubmedHPO"},{"subj":"T10","pred":"source","obj":"PubmedHPO"},{"subj":"T11","pred":"source","obj":"PubmedHPO"},{"subj":"T12","pred":"source","obj":"PubmedHPO"},{"subj":"T13","pred":"source","obj":"PubmedHPO"},{"subj":"T14","pred":"source","obj":"PubmedHPO"},{"subj":"T15","pred":"source","obj":"PubmedHPO"},{"subj":"T16","pred":"source","obj":"PubmedHPO"},{"subj":"T17","pred":"source","obj":"PubmedHPO"},{"subj":"T18","pred":"source","obj":"PubmedHPO"},{"subj":"T19","pred":"source","obj":"PubmedHPO"},{"subj":"T20","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":947,"end":964},"obj":"gene:7248"},{"id":"T1","span":{"begin":871,"end":875},"obj":"disease:C0027832"}],"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":"BioLarkPubmedHPO","denotations":[{"id":"HP:0006746","span":{"begin":109,"end":126},"obj":"HP:0006746"},{"id":"HP:0009589","span":{"begin":90,"end":126},"obj":"HP:0009589"},{"id":"HP:0009589","span":{"begin":128,"end":132},"obj":"HP:0009589"},{"id":"HP:0000006","span":{"begin":146,"end":164},"obj":"HP:0000006"},{"id":"HP:0003008","span":{"begin":208,"end":215},"obj":"HP:0003008"},{"id":"HP:0004375","span":{"begin":208,"end":237},"obj":"HP:0004375"},{"id":"HP:0002858","span":{"begin":248,"end":259},"obj":"HP:0002858"},{"id":"HP:0009733","span":{"begin":261,"end":268},"obj":"HP:0009733"},{"id":"HP:0001067","span":{"begin":270,"end":283},"obj":"HP:0001067"},{"id":"HP:0009589","span":{"begin":301,"end":328},"obj":"HP:0009589"},{"id":"HP:0006746","span":{"begin":531,"end":548},"obj":"HP:0006746"},{"id":"HP:0002858","span":{"begin":796,"end":807},"obj":"HP:0002858"},{"id":"HP:0009588","span":{"begin":1044,"end":1061},"obj":"HP:0009588"},{"id":"HP:0004375","span":{"begin":1072,"end":1094},"obj":"HP:0004375"},{"id":"T1","span":{"begin":109,"end":126},"obj":"HP:0006746"},{"id":"T2","span":{"begin":90,"end":126},"obj":"HP:0009589"},{"id":"T3","span":{"begin":128,"end":132},"obj":"HP:0009589"},{"id":"T4","span":{"begin":146,"end":164},"obj":"HP:0000006"},{"id":"T5","span":{"begin":208,"end":215},"obj":"HP:0003008"},{"id":"T6","span":{"begin":208,"end":237},"obj":"HP:0004375"},{"id":"T7","span":{"begin":248,"end":259},"obj":"HP:0002858"},{"id":"T8","span":{"begin":261,"end":268},"obj":"HP:0009733"},{"id":"T9","span":{"begin":270,"end":283},"obj":"HP:0001067"},{"id":"T10","span":{"begin":301,"end":328},"obj":"HP:0009589"},{"id":"T11","span":{"begin":531,"end":548},"obj":"HP:0006746"},{"id":"T12","span":{"begin":796,"end":807},"obj":"HP:0002858"},{"id":"T13","span":{"begin":1044,"end":1061},"obj":"HP:0009588"},{"id":"T14","span":{"begin":1072,"end":1094},"obj":"HP:0004375"},{"id":"T1","span":{"begin":109,"end":126},"obj":"HP:0006746"},{"id":"T2","span":{"begin":90,"end":126},"obj":"HP:0009589"},{"id":"T3","span":{"begin":128,"end":132},"obj":"HP:0009589"},{"id":"T4","span":{"begin":146,"end":164},"obj":"HP:0000006"},{"id":"T5","span":{"begin":208,"end":215},"obj":"HP:0003008"},{"id":"T6","span":{"begin":208,"end":237},"obj":"HP:0004375"},{"id":"T7","span":{"begin":248,"end":259},"obj":"HP:0002858"},{"id":"T8","span":{"begin":261,"end":268},"obj":"HP:0009733"},{"id":"T9","span":{"begin":270,"end":283},"obj":"HP:0001067"},{"id":"T10","span":{"begin":301,"end":328},"obj":"HP:0009589"},{"id":"T11","span":{"begin":531,"end":548},"obj":"HP:0006746"},{"id":"T12","span":{"begin":796,"end":807},"obj":"HP:0002858"},{"id":"T13","span":{"begin":1044,"end":1061},"obj":"HP:0009588"},{"id":"T14","span":{"begin":1072,"end":1094},"obj":"HP:0004375"},{"id":"T1","span":{"begin":109,"end":126},"obj":"HP:0006746"},{"id":"T2","span":{"begin":90,"end":126},"obj":"HP:0009589"},{"id":"T3","span":{"begin":128,"end":132},"obj":"HP:0009589"},{"id":"T4","span":{"begin":146,"end":164},"obj":"HP:0000006"},{"id":"T5","span":{"begin":208,"end":215},"obj":"HP:0003008"},{"id":"T6","span":{"begin":208,"end":237},"obj":"HP:0004375"},{"id":"T7","span":{"begin":248,"end":259},"obj":"HP:0002858"},{"id":"T8","span":{"begin":261,"end":268},"obj":"HP:0009733"},{"id":"T9","span":{"begin":270,"end":283},"obj":"HP:0001067"},{"id":"T10","span":{"begin":301,"end":328},"obj":"HP:0009589"},{"id":"T11","span":{"begin":531,"end":548},"obj":"HP:0006746"},{"id":"T12","span":{"begin":796,"end":807},"obj":"HP:0002858"},{"id":"T13","span":{"begin":1044,"end":1061},"obj":"HP:0009588"},{"id":"T14","span":{"begin":1072,"end":1094},"obj":"HP:0004375"}],"namespaces":[{"prefix":"HP:","uri":"http://compbio.charite.de/hpoweb/showterm?id=HP:"}],"attributes":[{"subj":"HP:0006746","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0009589","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0009589","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0000006","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0003008","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0004375","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0002858","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0009733","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0001067","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0009589","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0006746","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0002858","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0009588","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"HP:0004375","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T3","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T4","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T5","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T6","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T7","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T8","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T9","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T10","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T11","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T12","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T13","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T14","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T3","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T4","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T5","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T6","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T7","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T8","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T9","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T10","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T11","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T12","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T13","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T14","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T1","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T2","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T3","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T4","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T5","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T6","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T7","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T8","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T9","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T10","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T11","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T12","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T13","pred":"source","obj":"BioLarkPubmedHPO"},{"subj":"T14","pred":"source","obj":"BioLarkPubmedHPO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"2888021-4#209#226#gene7248","span":{"begin":947,"end":964},"obj":"gene7248"},{"id":"2888021-4#133#137#diseaseC0027832","span":{"begin":871,"end":875},"obj":"diseaseC0027832"}],"relations":[{"id":"209#226#gene7248133#137#diseaseC0027832","pred":"associated_with","subj":"2888021-4#209#226#gene7248","obj":"2888021-4#133#137#diseaseC0027832"}],"attributes":[{"subj":"2888021-4#209#226#gene7248","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"2888021-4#133#137#diseaseC0027832","pred":"source","obj":"DisGeNET5_gene_disease"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubmedHPO","color":"#ec93bc","default":true},{"id":"DisGeNET","color":"#93d6ec"},{"id":"BioLarkPubmedHPO","color":"#ece793"},{"id":"DisGeNET5_gene_disease","color":"#cd93ec"}]}]}}