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PubMed:15200509 JSONTXT 11 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.
T1 0-112 Sentence denotes De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome.
TextSentencer_T2 113-263 Sentence denotes Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease, characterized phenotypically by mucocutaneous pigmentation and hamartomatous polyposis.
T2 113-263 Sentence denotes Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease, characterized phenotypically by mucocutaneous pigmentation and hamartomatous polyposis.
TextSentencer_T3 264-361 Sentence denotes Affected patients are at an increased risk of developing gastrointestinal and other malignancies.
T3 264-361 Sentence denotes Affected patients are at an increased risk of developing gastrointestinal and other malignancies.
TextSentencer_T4 362-495 Sentence denotes Mutations in the STK11/LKB1 (LKB1) gene, which encodes for a serine-threonine kinase, have been identified as a genetic cause of PJS.
T4 362-495 Sentence denotes Mutations in the STK11/LKB1 (LKB1) gene, which encodes for a serine-threonine kinase, have been identified as a genetic cause of PJS.
TextSentencer_T5 496-671 Sentence denotes Molecular analysis of the LKB1 gene in a simplex case of PJS revealed a substitution of cytosine (C) for guanine (G) at codon 246 in exon 6, resulting in the Tyr246X mutation.
T5 496-671 Sentence denotes Molecular analysis of the LKB1 gene in a simplex case of PJS revealed a substitution of cytosine (C) for guanine (G) at codon 246 in exon 6, resulting in the Tyr246X mutation.
TextSentencer_T6 672-820 Sentence denotes The nucleotide substitution leads to a premature stop codon at the 246 residue, predicting a truncated protein and presumed loss of kinase activity.
T6 672-820 Sentence denotes The nucleotide substitution leads to a premature stop codon at the 246 residue, predicting a truncated protein and presumed loss of kinase activity.
TextSentencer_T7 821-940 Sentence denotes Analysis of DNA from both parents of the PJS patient did not show this mutation, which is therefore a de novo mutation.
T7 821-940 Sentence denotes Analysis of DNA from both parents of the PJS patient did not show this mutation, which is therefore a de novo mutation.
TextSentencer_T8 941-1221 Sentence denotes We isolated DNA from microdissected gastrointestinal hamartomatous polyps in the PJS patient and investigated the loss of heterozygosity (LOH) at the LKB1 locus by real-time fluorescence polymerase chain reaction genotyping using a fluorescent resonance energy transfer technique.
T8 941-1221 Sentence denotes We isolated DNA from microdissected gastrointestinal hamartomatous polyps in the PJS patient and investigated the loss of heterozygosity (LOH) at the LKB1 locus by real-time fluorescence polymerase chain reaction genotyping using a fluorescent resonance energy transfer technique.
TextSentencer_T9 1222-1314 Sentence denotes The results suggest a different mechanism from LOH in the formation of hamartomatous polyps.
T9 1222-1314 Sentence denotes The results suggest a different mechanism from LOH in the formation of hamartomatous polyps.