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PubMed:10441571 JSONTXT 17 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-85 Sentence denotes Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
T1 0-85 Sentence denotes Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
TextSentencer_T2 86-311 Sentence denotes The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.
T2 86-311 Sentence denotes The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.
TextSentencer_T3 312-429 Sentence denotes The gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain.
T3 312-429 Sentence denotes The gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain.
TextSentencer_T4 430-613 Sentence denotes The paired domain is composed of two distinct DNA-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus DNA sequences.
T4 430-613 Sentence denotes The paired domain is composed of two distinct DNA-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus DNA sequences.
TextSentencer_T5 614-729 Sentence denotes The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain.
T5 614-729 Sentence denotes The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain.
TextSentencer_T6 730-900 Sentence denotes The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the DNA-binding activity of the NTS and unmasks the DNA-binding ability of the CTS.
T6 730-900 Sentence denotes The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the DNA-binding activity of the NTS and unmasks the DNA-binding ability of the CTS.
TextSentencer_T7 901-985 Sentence denotes Thus, exon 5a appears to function as a molecular switch that specifies target genes.
T7 901-985 Sentence denotes Thus, exon 5a appears to function as a molecular switch that specifies target genes.
TextSentencer_T8 986-1219 Sentence denotes We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region.
T8 986-1219 Sentence denotes We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region.
TextSentencer_T9 1220-1380 Sentence denotes A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region.
T9 1220-1380 Sentence denotes A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region.
TextSentencer_T10 1381-1526 Sentence denotes Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.
T10 1381-1526 Sentence denotes Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.