PubMed:10192386 JSONTXT

{"project":"jnlpba-st-training","denotations":[{"id":"T1","span":{"begin":2,"end":37},"obj":"DNA"},{"id":"T2","span":{"begin":366,"end":411},"obj":"DNA"},{"id":"T3","span":{"begin":418,"end":441},"obj":"DNA"},{"id":"T4","span":{"begin":490,"end":510},"obj":"DNA"},{"id":"T5","span":{"begin":523,"end":545},"obj":"DNA"},{"id":"T6","span":{"begin":684,"end":715},"obj":"protein"},{"id":"T7","span":{"begin":730,"end":754},"obj":"protein"},{"id":"T8","span":{"begin":851,"end":859},"obj":"protein"},{"id":"T9","span":{"begin":923,"end":951},"obj":"DNA"}],"text":"A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.\nThe immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10192386-0#8#14#gene3459","span":{"begin":8,"end":14},"obj":"gene3459"},{"id":"10192386-0#81#104#diseaseC0026918","span":{"begin":81,"end":104},"obj":"diseaseC0026918"}],"relations":[{"id":"8#14#gene345981#104#diseaseC0026918","pred":"associated_with","subj":"10192386-0#8#14#gene3459","obj":"10192386-0#81#104#diseaseC0026918"}],"text":"A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.\nThe immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria."}

{"project":"pubmed-sentences-benchmark","denotations":[{"id":"S1","span":{"begin":0,"end":105},"obj":"Sentence"},{"id":"S2","span":{"begin":106,"end":258},"obj":"Sentence"},{"id":"S3","span":{"begin":259,"end":442},"obj":"Sentence"},{"id":"S4","span":{"begin":443,"end":546},"obj":"Sentence"},{"id":"S5","span":{"begin":547,"end":657},"obj":"Sentence"},{"id":"S6","span":{"begin":658,"end":893},"obj":"Sentence"},{"id":"S7","span":{"begin":894,"end":1041},"obj":"Sentence"}],"text":"A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.\nThe immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria."}

{"project":"genia-medco-coref","denotations":[{"id":"C1","span":{"begin":271,"end":332},"obj":"NP"},{"id":"C2","span":{"begin":333,"end":336},"obj":"NP"},{"id":"C3","span":{"begin":684,"end":715},"obj":"NP"},{"id":"C4","span":{"begin":716,"end":720},"obj":"NP"},{"id":"C5","span":{"begin":726,"end":754},"obj":"NP"},{"id":"C6","span":{"begin":756,"end":761},"obj":"NP"},{"id":"C7","span":{"begin":923,"end":951},"obj":"NP"},{"id":"C8","span":{"begin":952,"end":956},"obj":"NP"}],"relations":[{"id":"R1","pred":"coref-relat","subj":"C2","obj":"C1"},{"id":"R2","pred":"coref-relat","subj":"C4","obj":"C3"},{"id":"R3","pred":"coref-relat","subj":"C6","obj":"C5"},{"id":"R4","pred":"coref-relat","subj":"C8","obj":"C7"}],"text":"A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.\nThe immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria."}

{"project":"GENIAcorpus","denotations":[{"id":"T1","span":{"begin":2,"end":37},"obj":"DNA_domain_or_region"},{"id":"T2","span":{"begin":54,"end":77},"obj":"other_name"},{"id":"T3","span":{"begin":81,"end":104},"obj":"other_name"},{"id":"T4","span":{"begin":110,"end":129},"obj":"other_name"},{"id":"T5","span":{"begin":133,"end":150},"obj":"other_name"},{"id":"T6","span":{"begin":161,"end":192},"obj":"other_name"},{"id":"T7","span":{"begin":197,"end":223},"obj":"mono_cell"},{"id":"T8","span":{"begin":227,"end":241},"obj":"tissue"},{"id":"T9","span":{"begin":274,"end":282},"obj":"multi_cell"},{"id":"T10","span":{"begin":366,"end":411},"obj":"DNA_domain_or_region"},{"id":"T11","span":{"begin":418,"end":441},"obj":"DNA_domain_or_region"},{"id":"T12","span":{"begin":457,"end":484},"obj":"other_name"},{"id":"T13","span":{"begin":490,"end":510},"obj":"DNA_domain_or_region"},{"id":"T14","span":{"begin":523,"end":545},"obj":"DNA_domain_or_region"},{"id":"T15","span":{"begin":560,"end":577},"obj":"other_name"},{"id":"T16","span":{"begin":612,"end":637},"obj":"other_name"},{"id":"T17","span":{"begin":645,"end":656},"obj":"other_name"},{"id":"T18","span":{"begin":684,"end":715},"obj":"protein_family_or_group"},{"id":"T19","span":{"begin":730,"end":754},"obj":"protein_domain_or_region"},{"id":"T20","span":{"begin":788,"end":806},"obj":"other_name"},{"id":"T21","span":{"begin":808,"end":828},"obj":"other_name"},{"id":"T22","span":{"begin":851,"end":859},"obj":"protein_molecule"},{"id":"T23","span":{"begin":868,"end":892},"obj":"other_name"},{"id":"T24","span":{"begin":923,"end":951},"obj":"DNA_domain_or_region"},{"id":"T25","span":{"begin":964,"end":987},"obj":"other_name"},{"id":"T26","span":{"begin":1012,"end":1040},"obj":"mono_cell"}],"text":"A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.\nThe immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":8,"end":14},"obj":"gene:3459"},{"id":"T1","span":{"begin":81,"end":104},"obj":"disease:C0026918"}],"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/"}],"text":"A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.\nThe immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":973,"end":1001},"obj":"HP_0002719"}],"text":"A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.\nThe immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown. We describe 18 patients from several generations of 12 unrelated families who were heterozygous for 1 to 5 overlapping IFNGR1 frameshift small deletions and a wild-type IFNGR1 allele. There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot. Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication. The mutant alleles encode cell-surface IFNgamma receptors that lack the intra-cytoplasmic domain, which, through a combination of impaired recycling, abrogated signalling and normal binding to IFNgamma exert a dominant-negative effect. We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria."}