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sentences

Id Subject Object Predicate Lexical cue
T1 0-106 Sentence denotes Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.
T2 107-195 Sentence denotes We report the molecular defect in an individual with homozygous hypobetalipoproteinemia.
T3 196-345 Sentence denotes A unique TaqI restriction fragment length polymorphism was found in the midportion of the apolipoprotein B (apoB) gene using the genomic probe, pB51.
T4 346-495 Sentence denotes The probe, which identifies TaqI fragments of 8.4 and 2.8 kilobases (kb) in normal individuals, hybridized to a single 11-kb fragment in the proband.
T5 496-620 Sentence denotes The parents of the proband showed all three TaqI fragments, implying that they are heterozygotes for the mutant apoB allele.
T6 621-815 Sentence denotes In this family, the mutant allele cosegregated with low total cholesterol levels and formal linkage analysis gave a decimal logarithm of the ratio score of 3.3 at a recombination frequency of 0.
T7 816-907 Sentence denotes The polymorphic TaqI site was localized to an EcoRI fragment of 4 kb in normal individuals.
T8 908-1012 Sentence denotes The corresponding fragment in the proband was 3.4 kb, suggesting a 0.6-kb deletion in the mutant allele.
T9 1013-1112 Sentence denotes Both the normal 4-kb EcoRI fragment and the mutant 3.4-kb EcoRI fragment were cloned and sequenced.
T10 1113-1188 Sentence denotes In the normal allele, the 4-kb EcoRI fragment extends from intron 20 to 23.
T11 1189-1258 Sentence denotes Exon 21 is flanked by Alu sequences that are in the same orientation.
T12 1259-1438 Sentence denotes The mutant allele had a 694-bp deletion in this region which included a small part of the Alu sequence in intron 20, the entire exon 21, and most of the Alu sequence in intron 21.
T13 1439-1569 Sentence denotes The polymorphic TaqI site, which lies within the Alu sequence in intron 21, was absent in the proband as a result of the deletion.
T14 1570-1665 Sentence denotes The deletion of exon 21 results in a frame shift mutation and the introduction of a stop codon.
T15 1666-1743 Sentence denotes Translation of the encoded mRNA would yield a prematurely terminated protein.
T16 1744-1852 Sentence denotes This mutant apoB protein would be 1085 amino acids long with the 73 carboxyl-terminal residues out of frame.
T17 1853-2042 Sentence denotes We postulate that the deletion of exon 21 is the consequence of a crossover event between the Alu sequences in introns 20 and 21 resulting in nonreciprocal exchange between two chromosomes.
T1 0-106 Sentence denotes Hypobetalipoproteinemia due to an apolipoprotein B gene exon 21 deletion derived by Alu-Alu recombination.
T2 107-195 Sentence denotes We report the molecular defect in an individual with homozygous hypobetalipoproteinemia.
T3 196-345 Sentence denotes A unique TaqI restriction fragment length polymorphism was found in the midportion of the apolipoprotein B (apoB) gene using the genomic probe, pB51.
T4 346-495 Sentence denotes The probe, which identifies TaqI fragments of 8.4 and 2.8 kilobases (kb) in normal individuals, hybridized to a single 11-kb fragment in the proband.
T5 496-620 Sentence denotes The parents of the proband showed all three TaqI fragments, implying that they are heterozygotes for the mutant apoB allele.
T6 621-815 Sentence denotes In this family, the mutant allele cosegregated with low total cholesterol levels and formal linkage analysis gave a decimal logarithm of the ratio score of 3.3 at a recombination frequency of 0.
T7 816-907 Sentence denotes The polymorphic TaqI site was localized to an EcoRI fragment of 4 kb in normal individuals.
T8 908-1012 Sentence denotes The corresponding fragment in the proband was 3.4 kb, suggesting a 0.6-kb deletion in the mutant allele.
T9 1013-1112 Sentence denotes Both the normal 4-kb EcoRI fragment and the mutant 3.4-kb EcoRI fragment were cloned and sequenced.
T10 1113-1188 Sentence denotes In the normal allele, the 4-kb EcoRI fragment extends from intron 20 to 23.
T11 1189-1258 Sentence denotes Exon 21 is flanked by Alu sequences that are in the same orientation.
T12 1259-1438 Sentence denotes The mutant allele had a 694-bp deletion in this region which included a small part of the Alu sequence in intron 20, the entire exon 21, and most of the Alu sequence in intron 21.
T13 1439-1569 Sentence denotes The polymorphic TaqI site, which lies within the Alu sequence in intron 21, was absent in the proband as a result of the deletion.
T14 1570-1665 Sentence denotes The deletion of exon 21 results in a frame shift mutation and the introduction of a stop codon.
T15 1666-1743 Sentence denotes Translation of the encoded mRNA would yield a prematurely terminated protein.
T16 1744-1852 Sentence denotes This mutant apoB protein would be 1085 amino acids long with the 73 carboxyl-terminal residues out of frame.
T17 1853-2042 Sentence denotes We postulate that the deletion of exon 21 is the consequence of a crossover event between the Alu sequences in introns 20 and 21 resulting in nonreciprocal exchange between two chromosomes.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 34-50 gene:338 denotes apolipoprotein B
T1 0-23 disease:C0020597 denotes Hypobetalipoproteinemia
R1 T0 T1 associated_with apolipoprotein B,Hypobetalipoproteinemia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 171-194 HP_0003563 denotes hypobetalipoproteinemia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
2567736-0#34#50#gene338 34-50 gene338 denotes apolipoprotein B
2567736-0#0#23#diseaseC0020597 0-23 diseaseC0020597 denotes Hypobetalipoproteinemia
34#50#gene3380#23#diseaseC0020597 2567736-0#34#50#gene338 2567736-0#0#23#diseaseC0020597 associated_with apolipoprotein B,Hypobetalipoproteinemia

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 0-23 HP:0003563 denotes Hypobetalipoproteinemia
AB1 171-194 HP:0003563 denotes hypobetalipoproteinemia

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 0-23 Disease denotes Hypobetalipoproteinemia http://purl.obolibrary.org/obo/MONDO_0017774
T2 171-194 Disease denotes hypobetalipoproteinemia http://purl.obolibrary.org/obo/MONDO_0017774

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 0-23 Phenotype denotes Hypobetalipoproteinemia HP:0003563
T2 171-194 Phenotype denotes hypobetalipoproteinemia HP:0003563

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 2030-2041 Body_part denotes chromosomes http://purl.obolibrary.org/obo/GO_0005694