PubMed:10192386 JSON TXT

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Id	Subject	Object	Predicate	Lexical cue
T1	2-37	DNA	denotes	human IFNGR1 small deletion hotspot
T2	366-411	DNA	denotes	overlapping IFNGR1 frameshift small deletions
T3	418-441	DNA	denotes	wild-type IFNGR1 allele
T4	490-510	DNA	denotes	single mutation site
T5	523-545	DNA	denotes	small deletion hotspot
T6	684-715	protein	denotes	cell-surface IFNgamma receptors
T7	730-754	protein	denotes	intra-cytoplasmic domain
T8	851-859	protein	denotes	IFNgamma
T9	923-951	DNA	denotes	human IFNGR1 small deletions

Id	Subject	Object	Predicate	Lexical cue
10192386-0#8#14#gene3459	8-14	gene3459	denotes	IFNGR1
10192386-0#81#104#diseaseC0026918	81-104	diseaseC0026918	denotes	mycobacterial infection
8#14#gene345981#104#diseaseC0026918	10192386-0#8#14#gene3459	10192386-0#81#104#diseaseC0026918	associated_with	IFNGR1,mycobacterial infection

Id	Subject	Object	Predicate	Lexical cue
S1	0-105	Sentence	denotes	A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.
S2	106-258	Sentence	denotes	The immunogenetic basis of severe infections caused by bacille Calmette-Guérin vaccine and environmental mycobacteria in humans remains largely unknown.
S3	259-442	Sentence	denotes	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.
S4	443-546	Sentence	denotes	There were 12 independent mutation events at a single mutation site, defining a small deletion hotspot.
S5	547-657	Sentence	denotes	Neighbouring sequence analysis favours a small deletion model of slipped mispairing events during replication.
S6	658-893	Sentence	denotes	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.
S7	894-1041	Sentence	denotes	We thus report a hotspot for human IFNGR1 small deletions that confer dominant susceptibility to infections caused by poorly virulent mycobacteria.

Id	Subject	Object	Predicate	Lexical cue
C1	271-332	NP	denotes	18 patients from several generations of 12 unrelated families
C2	333-336	NP	denotes	who
C3	684-715	NP	denotes	cell-surface IFNgamma receptors
C4	716-720	NP	denotes	that
C5	726-754	NP	denotes	the intra-cytoplasmic domain
C6	756-761	NP	denotes	which
C7	923-951	NP	denotes	human IFNGR1 small deletions
C8	952-956	NP	denotes	that
R1	C2	C1	coref-relat	who,18 patients from several generations of 12 unrelated families
R2	C4	C3	coref-relat	that,cell-surface IFNgamma receptors
R3	C6	C5	coref-relat	which,the intra-cytoplasmic domain
R4	C8	C7	coref-relat	that,human IFNGR1 small deletions

Id	Subject	Object	Predicate	Lexical cue
T1	2-37	DNA_domain_or_region	denotes	human IFNGR1 small deletion hotspot
T2	54-77	other_name	denotes	dominant susceptibility
T3	81-104	other_name	denotes	mycobacterial infection
T4	110-129	other_name	denotes	immunogenetic basis
T5	133-150	other_name	denotes	severe infections
T6	161-192	other_name	denotes	bacille Calmette-Guérin vaccine
T7	197-223	mono_cell	denotes	environmental mycobacteria
T8	227-241	tissue	denotes	humans remains
T9	274-282	multi_cell	denotes	patients
T10	366-411	DNA_domain_or_region	denotes	overlapping IFNGR1 frameshift small deletions
T11	418-441	DNA_domain_or_region	denotes	wild-type IFNGR1 allele
T12	457-484	other_name	denotes	independent mutation events
T13	490-510	DNA_domain_or_region	denotes	single mutation site
T14	523-545	DNA_domain_or_region	denotes	small deletion hotspot
T15	560-577	other_name	denotes	sequence analysis
T16	612-637	other_name	denotes	slipped mispairing events
T17	645-656	other_name	denotes	replication
T18	684-715	protein_family_or_group	denotes	cell-surface IFNgamma receptors
T19	730-754	protein_domain_or_region	denotes	intra-cytoplasmic domain
T20	788-806	other_name	denotes	impaired recycling
T21	808-828	other_name	denotes	abrogated signalling
T22	851-859	protein_molecule	denotes	IFNgamma
T23	868-892	other_name	denotes	dominant-negative effect
T24	923-951	DNA_domain_or_region	denotes	human IFNGR1 small deletions
T25	964-987	other_name	denotes	dominant susceptibility
T26	1012-1040	mono_cell	denotes	poorly virulent mycobacteria

Id	Subject	Object	Predicate	Lexical cue
T0	8-14	gene:3459	denotes	IFNGR1
T1	81-104	disease:C0026918	denotes	mycobacterial infection
R1	T0	T1	associated_with	IFNGR1,mycobacterial infection

Id	Subject	Object	Predicate	Lexical cue
T1	973-1001	HP_0002719	denotes	susceptibility to infections