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PubMed:1684088 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-98 Sentence denotes Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
TextSentencer_T2 99-274 Sentence denotes Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors.
TextSentencer_T3 275-419 Sentence denotes Clones hybridizing with cDNA for human ARSA were selected, examined for appropriate size inserts, and used to prepare single-stranded phage DNA.
TextSentencer_T4 420-535 Sentence denotes Examination of the entire coding and most of the intronic sequence revealed two putative disease-related mutations.
TextSentencer_T5 536-622 Sentence denotes One, a point mutation in exon 3, resulted in the substitution of isoleucine by serine.
TextSentencer_T6 623-804 Sentence denotes Introduction of this alteration into the normal ARSA cDNA sequence resulted in a substantial decrease in ARSA activity on transient expression in cultured baby hamster kidney cells.
TextSentencer_T7 805-911 Sentence denotes About 5% of the control expression was observed, suggesting a small residual activity in the mutated ARSA.
TextSentencer_T8 912-1078 Sentence denotes The second mutation, a G-to-A transition, occurred in the other allele and resulted in an altered splice-recognition sequence between exon 7 and the following intron.
TextSentencer_T9 1079-1140 Sentence denotes The mutation also resulted in the loss of a restriction site.
TextSentencer_T10 1141-1280 Sentence denotes Apparently normal levels of mRNA were generated from this allele, but no ARSA activity or immuno-cross-reactive material could be detected.
TextSentencer_T11 1281-1427 Sentence denotes A collection of DNA samples from known or suspected MLD patients, members of their families, and normal controls was screened for these mutations.
TextSentencer_T12 1428-1546 Sentence denotes Four additional individuals carrying each of the mutations were found among the nearly 100 MLD patients in the sample.
TextSentencer_T13 1547-1657 Sentence denotes Gene segregation in the original patient's family was consistent with available clinical and biochemical data.
TextSentencer_T14 1658-1734 Sentence denotes No individuals homozygous for either of these two mutations were identified.
TextSentencer_T15 1735-1924 Sentence denotes However, combinations with other MLD mutations suggest that the point mutation in exon 3 does result in some residual enzyme activity and is associated with late-onset forms of the disease.
TextSentencer_T16 1925-2095 Sentence denotes The splice-site mutation following exon 7 produces late-infantile MLD when combined with other enzyme-null mutations, implying that it is completely silent enzymatically.
T1 0-98 Sentence denotes Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.
T2 99-274 Sentence denotes Fragments of the arylsulfatase A (ARSA) gene from a patient with juvenile-onset metachromatic leukodystrophy (MLD) were amplified by PCR and ligated into MP13 cloning vectors.
T3 275-419 Sentence denotes Clones hybridizing with cDNA for human ARSA were selected, examined for appropriate size inserts, and used to prepare single-stranded phage DNA.
T4 420-535 Sentence denotes Examination of the entire coding and most of the intronic sequence revealed two putative disease-related mutations.
T5 536-622 Sentence denotes One, a point mutation in exon 3, resulted in the substitution of isoleucine by serine.
T6 623-804 Sentence denotes Introduction of this alteration into the normal ARSA cDNA sequence resulted in a substantial decrease in ARSA activity on transient expression in cultured baby hamster kidney cells.
T7 805-911 Sentence denotes About 5% of the control expression was observed, suggesting a small residual activity in the mutated ARSA.
T8 912-1078 Sentence denotes The second mutation, a G-to-A transition, occurred in the other allele and resulted in an altered splice-recognition sequence between exon 7 and the following intron.
T9 1079-1140 Sentence denotes The mutation also resulted in the loss of a restriction site.
T10 1141-1280 Sentence denotes Apparently normal levels of mRNA were generated from this allele, but no ARSA activity or immuno-cross-reactive material could be detected.
T11 1281-1427 Sentence denotes A collection of DNA samples from known or suspected MLD patients, members of their families, and normal controls was screened for these mutations.
T12 1428-1546 Sentence denotes Four additional individuals carrying each of the mutations were found among the nearly 100 MLD patients in the sample.
T13 1547-1657 Sentence denotes Gene segregation in the original patient's family was consistent with available clinical and biochemical data.
T14 1658-1734 Sentence denotes No individuals homozygous for either of these two mutations were identified.
T15 1735-1924 Sentence denotes However, combinations with other MLD mutations suggest that the point mutation in exon 3 does result in some residual enzyme activity and is associated with late-onset forms of the disease.
T16 1925-2095 Sentence denotes The splice-site mutation following exon 7 produces late-infantile MLD when combined with other enzyme-null mutations, implying that it is completely silent enzymatically.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1684088-0#8#23#gene410 8-23 gene410 denotes arylsulfatase A
1684088-0#25#29#gene410 25-29 gene410 denotes ARSA
1684088-0#46#83#diseaseC0751276 46-83 diseaseC0751276 denotes juvenile metachromatic leukodystrophy
1684088-0#85#88#diseaseC0023522 85-88 diseaseC0023522 denotes MLD
1684088-0#46#83#diseaseC0751276 46-83 diseaseC0751276 denotes juvenile metachromatic leukodystrophy
1684088-0#85#88#diseaseC0023522 85-88 diseaseC0023522 denotes MLD
8#23#gene41046#83#diseaseC0751276 1684088-0#8#23#gene410 1684088-0#46#83#diseaseC0751276 associated_with arylsulfatase A,juvenile metachromatic leukodystrophy
8#23#gene41085#88#diseaseC0023522 1684088-0#8#23#gene410 1684088-0#85#88#diseaseC0023522 associated_with arylsulfatase A,MLD
8#23#gene41046#83#diseaseC0751276 1684088-0#8#23#gene410 1684088-0#46#83#diseaseC0751276 associated_with arylsulfatase A,juvenile metachromatic leukodystrophy
8#23#gene41085#88#diseaseC0023522 1684088-0#8#23#gene410 1684088-0#85#88#diseaseC0023522 associated_with arylsulfatase A,MLD
25#29#gene41046#83#diseaseC0751276 1684088-0#25#29#gene410 1684088-0#46#83#diseaseC0751276 associated_with ARSA,juvenile metachromatic leukodystrophy
25#29#gene41085#88#diseaseC0023522 1684088-0#25#29#gene410 1684088-0#85#88#diseaseC0023522 associated_with ARSA,MLD
25#29#gene41046#83#diseaseC0751276 1684088-0#25#29#gene410 1684088-0#46#83#diseaseC0751276 associated_with ARSA,juvenile metachromatic leukodystrophy
25#29#gene41085#88#diseaseC0023522 1684088-0#25#29#gene410 1684088-0#85#88#diseaseC0023522 associated_with ARSA,MLD

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 791-797 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 69-83 HP:0002415 denotes leukodystrophy
AB1 193-207 HP:0002415 denotes leukodystrophy

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 55-83 ORDO:512 denotes metachromatic leukodystrophy
AB1 179-207 ORDO:512 denotes metachromatic leukodystrophy
AB2 209-212 ORDO:512 denotes MLD
AB3 1333-1336 ORDO:512 denotes MLD
AB4 1519-1522 ORDO:512 denotes MLD
AB5 1768-1771 ORDO:512 denotes MLD
AB6 1991-1994 ORDO:512 denotes MLD

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 55-83 Modifier:D007966 denotes metachromatic leukodystrophy
T2 85-88 Modifier:D007966 denotes MLD
T3 179-207 SpecificDisease:D007966 denotes metachromatic leukodystrophy
T4 209-212 SpecificDisease:D007966 denotes MLD
T5 1333-1336 Modifier:D007966 denotes MLD
T6 1519-1522 Modifier:D007966 denotes MLD
T7 1768-1771 Modifier:D007966 denotes MLD
T8 1991-1994 SpecificDisease:D007966 denotes MLD

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T2166 55-83 Modifier denotes metachromatic leukodystrophy D007966
T2167 85-88 Modifier denotes MLD D007966
T2168 179-207 SpecificDisease denotes metachromatic leukodystrophy D007966
T2169 209-212 SpecificDisease denotes MLD D007966
T2170 1333-1336 Modifier denotes MLD D007966
T2171 1519-1522 Modifier denotes MLD D007966
T2172 1768-1771 Modifier denotes MLD D007966
T2173 1991-1994 SpecificDisease denotes MLD D007966

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T2166 55-83 Modifier denotes metachromatic leukodystrophy D007966
T2167 85-88 Modifier denotes MLD D007966
T2168 179-207 SpecificDisease denotes metachromatic leukodystrophy D007966
T2169 209-212 SpecificDisease denotes MLD D007966
T2170 1333-1336 Modifier denotes MLD D007966
T2171 1519-1522 Modifier denotes MLD D007966
T2172 1768-1771 Modifier denotes MLD D007966
T2173 1991-1994 SpecificDisease denotes MLD D007966

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 55-83 SpecificDisease denotes metachromatic leukodystrophy
T2 85-88 SpecificDisease denotes MLD
T3 179-207 SpecificDisease denotes metachromatic leukodystrophy
T4 209-212 SpecificDisease denotes MLD
T5 1333-1336 SpecificDisease denotes MLD
T6 1519-1522 SpecificDisease denotes MLD
T7 1768-1771 SpecificDisease denotes MLD
T8 1991-1994 SpecificDisease denotes MLD

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 55-83 SpecificDisease denotes metachromatic leukodystrophy
T2 85-88 SpecificDisease denotes MLD
T3 179-207 SpecificDisease denotes metachromatic leukodystrophy
T4 209-212 SpecificDisease denotes MLD
T5 1333-1336 SpecificDisease denotes MLD
T6 1519-1522 SpecificDisease denotes MLD
T7 1768-1771 SpecificDisease denotes MLD
T8 1991-1994 SpecificDisease denotes MLD

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 55-83 SpecificDisease denotes metachromatic leukodystrophy
T2 179-207 SpecificDisease denotes metachromatic leukodystrophy
T3 1333-1336 SpecificDisease denotes MLD
T4 1519-1522 SpecificDisease denotes MLD
T5 1768-1771 SpecificDisease denotes MLD
T6 1991-1994 SpecificDisease denotes MLD

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 55-83 SpecificDisease denotes metachromatic leukodystrophy
T2 85-88 SpecificDisease denotes MLD
T3 164-178 Modifier denotes juvenile-onset
T4 179-207 SpecificDisease denotes metachromatic leukodystrophy
T5 209-212 SpecificDisease denotes MLD
T6 1333-1336 SpecificDisease denotes MLD
T7 1519-1522 SpecificDisease denotes MLD
T8 1768-1771 SpecificDisease denotes MLD
T9 1976-1990 Modifier denotes late-infantile
T10 1991-1994 SpecificDisease denotes MLD