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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-81 Sentence denotes Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
TextSentencer_T2 82-139 Sentence denotes One of female MZ twins presented with muscular dystrophy.
TextSentencer_T3 140-266 Sentence denotes Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD).
TextSentencer_T4 267-354 Sentence denotes However, because of her sex she was diagnosed as having limb-girdle muscular dystrophy.
TextSentencer_T5 355-448 Sentence denotes With cDNA probes to the DMD gene, a gene deletion was detected in the twins and their mother.
TextSentencer_T6 449-593 Sentence denotes The de novo mutation which arose in the mother was shown by novel junction fragments generated by HindIII, PstI, or TaqI when probed with cDNA8.
TextSentencer_T7 594-765 Sentence denotes Additional evidence of a large gene deletion was given by novel SfiI junction fragments detected by probes p20, J-Bir, and J-66 on pulsed-field gel electrophoresis (PFGE).
TextSentencer_T8 766-874 Sentence denotes Immunoblot analysis of muscle from the affected twin showed dystrophin of normal size but of reduced amount.
TextSentencer_T9 875-1012 Sentence denotes Immunofluorescent visualization of dystrophin revealed foci of dystrophin-positive fibers adjacent to foci of dystrophin-negative fibers.
TextSentencer_T10 1013-1174 Sentence denotes These data indicate that the affected twin is a manifesting carrier of an abnormal DMD gene, her myopathy being a direct result of underexpression of dystrophin.
TextSentencer_T11 1175-1299 Sentence denotes Cytogenetic analysis revealed normal karyotypes, eliminating the possibility of a translocation affecting DMD gene function.
TextSentencer_T12 1300-1492 Sentence denotes Both linkage analysis and DNA fingerprint analysis revealed that each twin has two different X chromosomes, eliminating the possibility of uniparental disomy as a mechanism for DMD expression.
TextSentencer_T13 1493-1727 Sentence denotes On the basis of methylation differences of the paternal and maternal X chromosomes in these MZ twins, we propose uneven lyonization (X chromosome inactivation) as the underlying mechanism for disease expression in the affected female.
T1 0-81 Sentence denotes Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.
T2 82-139 Sentence denotes One of female MZ twins presented with muscular dystrophy.
T3 140-266 Sentence denotes Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD).
T4 267-354 Sentence denotes However, because of her sex she was diagnosed as having limb-girdle muscular dystrophy.
T5 355-448 Sentence denotes With cDNA probes to the DMD gene, a gene deletion was detected in the twins and their mother.
T6 449-593 Sentence denotes The de novo mutation which arose in the mother was shown by novel junction fragments generated by HindIII, PstI, or TaqI when probed with cDNA8.
T7 594-765 Sentence denotes Additional evidence of a large gene deletion was given by novel SfiI junction fragments detected by probes p20, J-Bir, and J-66 on pulsed-field gel electrophoresis (PFGE).
T8 766-874 Sentence denotes Immunoblot analysis of muscle from the affected twin showed dystrophin of normal size but of reduced amount.
T9 875-1012 Sentence denotes Immunofluorescent visualization of dystrophin revealed foci of dystrophin-positive fibers adjacent to foci of dystrophin-negative fibers.
T10 1013-1174 Sentence denotes These data indicate that the affected twin is a manifesting carrier of an abnormal DMD gene, her myopathy being a direct result of underexpression of dystrophin.
T11 1175-1299 Sentence denotes Cytogenetic analysis revealed normal karyotypes, eliminating the possibility of a translocation affecting DMD gene function.
T12 1300-1492 Sentence denotes Both linkage analysis and DNA fingerprint analysis revealed that each twin has two different X chromosomes, eliminating the possibility of uniparental disomy as a mechanism for DMD expression.
T13 1493-1727 Sentence denotes On the basis of methylation differences of the paternal and maternal X chromosomes in these MZ twins, we propose uneven lyonization (X chromosome inactivation) as the underlying mechanism for disease expression in the affected female.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1163-1173 gene:1756 denotes dystrophin
T1 1110-1118 disease:C0026848 denotes myopathy
R1 T0 T1 associated_with dystrophin,myopathy

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 120-138 HP_0003560 denotes muscular dystrophy
T2 241-259 HP_0003560 denotes muscular dystrophy
T3 323-353 HP_0006785 denotes limb-girdle muscular dystrophy
T4 335-353 HP_0003560 denotes muscular dystrophy
T5 1110-1118 HP_0003198 denotes myopathy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 120-138 HP:0003560 denotes muscular dystrophy
TI1 62-80 HP:0003560 denotes muscular dystrophy
AB2 241-259 HP:0003560 denotes muscular dystrophy
AB3 323-353 HP:0006785 denotes limb-girdle muscular dystrophy
AB4 1110-1118 HP:0003198 denotes myopathy

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 323-327 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limb

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 53-80 ORDO:98896 denotes Duchenne muscular dystrophy
AB1 232-259 ORDO:98896 denotes Duchenne muscular dystrophy
AB2 261-264 ORDO:98896 denotes DMD
AB3 379-382 ORDO:98896 denotes DMD
AB4 1096-1099 ORDO:98896 denotes DMD
AB5 1281-1284 ORDO:98896 denotes DMD
AB6 1477-1480 ORDO:98896 denotes DMD

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 323-327 http://purl.obolibrary.org/obo/UBERON_0002101 denotes limb

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 53-80 SpecificDisease:D020388 denotes Duchenne muscular dystrophy
T2 120-138 DiseaseClass:D009136 denotes muscular dystrophy
T3 232-259 SpecificDisease:D020388 denotes Duchenne muscular dystrophy
T4 261-264 SpecificDisease:D020388 denotes DMD
T5 323-353 SpecificDisease:D049288 denotes limb-girdle muscular dystrophy
T6 379-382 Modifier:D020388 denotes DMD
T7 1096-1099 Modifier:D020388 denotes DMD
T8 1110-1118 DiseaseClass:D009135 denotes myopathy
T9 1281-1284 Modifier:D020388 denotes DMD
T10 1439-1457 SpecificDisease:D024182 denotes uniparental disomy
T11 1477-1480 Modifier:D020388 denotes DMD

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T1046 53-80 SpecificDisease denotes Duchenne muscular dystrophy D020388
T1047 120-138 DiseaseClass denotes muscular dystrophy D009136
T1048 232-259 SpecificDisease denotes Duchenne muscular dystrophy D020388
T1049 261-264 SpecificDisease denotes DMD D020388
T1050 323-353 SpecificDisease denotes limb-girdle muscular dystrophy D049288
T1051 379-382 Modifier denotes DMD D020388
T1052 1096-1099 Modifier denotes DMD D020388
T1053 1110-1118 DiseaseClass denotes myopathy D009135
T1054 1281-1284 Modifier denotes DMD D020388
T1055 1439-1457 SpecificDisease denotes uniparental disomy D024182
T1056 1477-1480 Modifier denotes DMD D020388

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T1046 53-80 SpecificDisease denotes Duchenne muscular dystrophy D020388
T1047 120-138 DiseaseClass denotes muscular dystrophy D009136
T1048 232-259 SpecificDisease denotes Duchenne muscular dystrophy D020388
T1049 261-264 SpecificDisease denotes DMD D020388
T1050 323-353 SpecificDisease denotes limb-girdle muscular dystrophy D049288
T1051 379-382 Modifier denotes DMD D020388
T1052 1096-1099 Modifier denotes DMD D020388
T1053 1110-1118 DiseaseClass denotes myopathy D009135
T1054 1281-1284 Modifier denotes DMD D020388
T1055 1439-1457 SpecificDisease denotes uniparental disomy D024182
T1056 1477-1480 Modifier denotes DMD D020388

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 53-80 SpecificDisease denotes Duchenne muscular dystrophy
T2 120-138 DiseaseClass denotes muscular dystrophy
T3 232-259 SpecificDisease denotes Duchenne muscular dystrophy
T4 261-264 SpecificDisease denotes DMD
T5 323-353 SpecificDisease denotes limb-girdle muscular dystrophy
T6 379-382 Modifier denotes DMD
T7 1096-1099 Modifier denotes DMD
T8 1110-1118 DiseaseClass denotes myopathy
T9 1281-1284 Modifier denotes DMD
T10 1477-1480 SpecificDisease denotes DMD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 53-80 SpecificDisease denotes Duchenne muscular dystrophy
T2 120-138 DiseaseClass denotes muscular dystrophy
T3 232-259 SpecificDisease denotes Duchenne muscular dystrophy
T4 261-264 SpecificDisease denotes DMD
T5 323-353 SpecificDisease denotes limb-girdle muscular dystrophy
T6 379-382 Modifier denotes DMD
T7 1096-1099 Modifier denotes DMD
T8 1110-1118 SpecificDisease denotes myopathy
T9 1281-1284 Modifier denotes DMD
T10 1477-1480 SpecificDisease denotes DMD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 53-80 SpecificDisease denotes Duchenne muscular dystrophy
T2 120-138 DiseaseClass denotes muscular dystrophy
T3 232-259 SpecificDisease denotes Duchenne muscular dystrophy
T4 261-264 SpecificDisease denotes DMD
T5 323-353 SpecificDisease denotes limb-girdle muscular dystrophy
T6 379-387 Modifier denotes DMD gene
T7 1096-1104 Modifier denotes DMD gene
T8 1110-1118 DiseaseClass denotes myopathy
T9 1281-1289 Modifier denotes DMD gene
T10 1477-1491 Modifier denotes DMD expression
T11 1685-1703 Modifier denotes disease expression

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 53-80 SpecificDisease denotes Duchenne muscular dystrophy
T2 120-138 DiseaseClass denotes muscular dystrophy
T3 232-265 SpecificDisease denotes Duchenne muscular dystrophy (DMD)
T4 323-353 SpecificDisease denotes limb-girdle muscular dystrophy
T5 1110-1118 DiseaseClass denotes myopathy
T6 1477-1480 SpecificDisease denotes DMD