PubMed:10024240 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/10024240","sourcedb":"PubMed","sourceid":"10024240","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10024240","text":"A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects.\nMicrodeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion.","tracks":[{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10024240-4#10#15#gene7353","span":{"begin":562,"end":567},"obj":"gene7353"},{"id":"10024240-4#164#169#gene7353","span":{"begin":716,"end":721},"obj":"gene7353"},{"id":"10024240-4#223#246#diseaseC2936346","span":{"begin":775,"end":798},"obj":"diseaseC2936346"}],"relations":[{"id":"10#15#gene7353223#246#diseaseC2936346","pred":"associated_with","subj":"10024240-4#10#15#gene7353","obj":"10024240-4#223#246#diseaseC2936346"},{"id":"164#169#gene7353223#246#diseaseC2936346","pred":"associated_with","subj":"10024240-4#164#169#gene7353","obj":"10024240-4#223#246#diseaseC2936346"}],"attributes":[{"subj":"10024240-4#10#15#gene7353","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10024240-4#164#169#gene7353","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10024240-4#223#246#diseaseC2936346","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"bionlp-st-gro-2013-development","denotations":[{"id":"T1","span":{"begin":50,"end":55},"obj":"Eukaryote"},{"id":"T2","span":{"begin":56,"end":63},"obj":"Tissue"},{"id":"T3","span":{"begin":68,"end":80},"obj":"Tissue"},{"id":"T4","span":{"begin":108,"end":118},"obj":"Chromosome"},{"id":"T5","span":{"begin":177,"end":184},"obj":"Tissue"},{"id":"T6","span":{"begin":189,"end":201},"obj":"Tissue"},{"id":"T7","span":{"begin":215,"end":221},"obj":"Eukaryote"},{"id":"T8","span":{"begin":236,"end":241},"obj":"Eukaryote"},{"id":"T9","span":{"begin":242,"end":247},"obj":"Gene"},{"id":"T10","span":{"begin":261,"end":266},"obj":"TranscriptionFactor"},{"id":"T11","span":{"begin":270,"end":290},"obj":"TranscriptionFactor"},{"id":"T13","span":{"begin":342,"end":346},"obj":"Gene"},{"id":"T14","span":{"begin":362,"end":367},"obj":"Eukaryote"},{"id":"T15","span":{"begin":388,"end":395},"obj":"Protein"},{"id":"T18","span":{"begin":447,"end":452},"obj":"Eukaryote"},{"id":"T19","span":{"begin":453,"end":457},"obj":"Protein"},{"id":"T21","span":{"begin":493,"end":500},"obj":"Tissue"},{"id":"T23","span":{"begin":556,"end":561},"obj":"Eukaryote"},{"id":"T24","span":{"begin":562,"end":572},"obj":"Gene"},{"id":"T25","span":{"begin":700,"end":705},"obj":"Exon"},{"id":"T26","span":{"begin":716,"end":721},"obj":"Gene"},{"id":"T27","span":{"begin":824,"end":829},"obj":"Gene"},{"id":"T30","span":{"begin":305,"end":317},"obj":"Tissue"},{"id":"T31","span":{"begin":368,"end":373},"obj":"Chromosome"},{"id":"T17","span":{"begin":437,"end":445},"obj":"Protein"},{"id":"T22","span":{"begin":527,"end":532},"obj":"Chromosome"},{"id":"T36","span":{"begin":618,"end":623},"obj":"Chromosome"},{"id":"T38","span":{"begin":775,"end":780},"obj":"Chromosome"},{"id":"T41","span":{"begin":879,"end":884},"obj":"Tissue"},{"id":"T42","span":{"begin":889,"end":901},"obj":"Tissue"},{"id":"T43","span":{"begin":918,"end":923},"obj":"Chromosome"},{"id":"E2","span":{"begin":408,"end":419},"obj":"ProteinCatabolism"},{"id":"E3","span":{"begin":475,"end":484},"obj":"GeneExpression"},{"id":"E5","span":{"begin":12,"end":19},"obj":"Pathway"},{"id":"E6","span":{"begin":90,"end":104},"obj":"Mutation"},{"id":"E1","span":{"begin":318,"end":329},"obj":"DevelopmentalProcess"},{"id":"E7","span":{"begin":423,"end":436},"obj":"ProteinModification"},{"id":"E4","span":{"begin":533,"end":541},"obj":"Mutation"},{"id":"E8","span":{"begin":542,"end":550},"obj":"Disease"},{"id":"E9","span":{"begin":577,"end":584},"obj":"Mutation"},{"id":"E10","span":{"begin":624,"end":632},"obj":"Mutation"},{"id":"E11","span":{"begin":781,"end":789},"obj":"Mutation"},{"id":"E12","span":{"begin":790,"end":798},"obj":"Disease"},{"id":"E13","span":{"begin":924,"end":932},"obj":"Mutation"}],"relations":[{"id":"R1","pred":"fromSpecies","subj":"T2","obj":"T1"},{"id":"R2","pred":"fromSpecies","subj":"T3","obj":"T1"},{"id":"R3","pred":"fromSpecies","subj":"T5","obj":"T7"},{"id":"R4","pred":"fromSpecies","subj":"T6","obj":"T7"},{"id":"R5","pred":"fromSpecies","subj":"T9","obj":"T8"},{"id":"R6","pred":"encodes","subj":"T13","obj":"T15"},{"id":"R8","pred":"fromSpecies","subj":"T19","obj":"T18"},{"id":"R9","pred":"locatedIn","subj":"E3","obj":"T21"},{"id":"R10","pred":"fromSpecies","subj":"T24","obj":"T23"},{"id":"R11","pred":"hasPart","subj":"T26","obj":"T25"},{"id":"R12","pred":"locatedIn","subj":"E6","obj":"T4"},{"id":"R13","pred":"locatedIn","subj":"T13","obj":"T31"},{"id":"R7","pred":"fromSpecies","subj":"T31","obj":"T14"},{"id":"R14","pred":"locatedIn","subj":"E4","obj":"T22"},{"id":"R15","pred":"locatedIn","subj":"E10","obj":"T36"},{"id":"R16","pred":"locatedIn","subj":"E11","obj":"T38"},{"id":"R17","pred":"locatedIn","subj":"E13","obj":"T43"},{"id":"R19","pred":"hasPatient","subj":"T17","obj":"E2"},{"id":"R20","pred":"hasPatient","subj":"T19","obj":"E3"},{"id":"R21","pred":"hasAgent","subj":"T11","obj":"E1"},{"id":"R22","pred":"hasPatient","subj":"T30","obj":"E1"},{"id":"R23","pred":"hasPatient","subj":"T17","obj":"E7"},{"id":"R24","pred":"hasPatient","subj":"T24","obj":"E9"}],"attributes":[{"subj":"T1","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T2","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T3","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T4","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T5","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T6","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T7","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T8","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T9","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T10","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T11","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T13","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T14","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T15","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T18","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T19","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T21","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T23","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T24","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T25","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T26","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T27","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T30","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T31","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T17","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T22","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T36","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T38","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T41","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T42","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"T43","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E2","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E3","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E5","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E6","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E1","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E7","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E4","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E8","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E9","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E10","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E11","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E12","pred":"source","obj":"bionlp-st-gro-2013-development"},{"subj":"E13","pred":"source","obj":"bionlp-st-gro-2013-development"}]},{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":177,"end":211},"obj":"HP_0001627"},{"id":"T2","span":{"begin":189,"end":211},"obj":"HP_0001999"},{"id":"T3","span":{"begin":868,"end":909},"obj":"HP_0002564"},{"id":"T4","span":{"begin":879,"end":909},"obj":"HP_0001627"},{"id":"T5","span":{"begin":889,"end":909},"obj":"HP_0001999"}],"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"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":453,"end":457},"obj":"gene:7353"},{"id":"T1","span":{"begin":527,"end":550},"obj":"disease:C2936346"},{"id":"T2","span":{"begin":716,"end":721},"obj":"gene:7353"},{"id":"T3","span":{"begin":775,"end":798},"obj":"disease:C2936346"},{"id":"T4","span":{"begin":562,"end":567},"obj":"gene:7353"},{"id":"T5","span":{"begin":775,"end":798},"obj":"disease:C2936346"}],"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/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET5_gene_disease","color":"#ecbe93","default":true},{"id":"bionlp-st-gro-2013-development","color":"#a493ec"},{"id":"PubmedHPO","color":"#9bec93"},{"id":"DisGeNET","color":"#ec93b5"}]}]}}