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PubMed:20534762 JSONTXT 33 Projects

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Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-133 Sentence denotes Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
T1 0-133 Sentence denotes Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening.
TextSentencer_T2 134-142 Sentence denotes CONTEXT:
T2 134-142 Sentence denotes CONTEXT:
TextSentencer_T3 143-255 Sentence denotes Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening.
T3 143-255 Sentence denotes Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening.
TextSentencer_T4 256-266 Sentence denotes OBJECTIVE:
T4 256-266 Sentence denotes OBJECTIVE:
TextSentencer_T5 267-522 Sentence denotes Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital central hypothyroidism and conventional treatment-resistant anemia.
T5 267-522 Sentence denotes Our objective was to report the molecular consequences of a novel splice-junction mutation and a novel missense mutation in the TSH-beta subunit gene found in two patients with congenital central hypothyroidism and conventional treatment-resistant anemia.
TextSentencer_T6 523-531 Sentence denotes RESULTS:
T6 523-531 Sentence denotes RESULTS:
TextSentencer_T7 532-629 Sentence denotes Patient 1 had a homozygous G to A nucleotide change at the 5' donor splice site of exon/intron 2.
T7 532-629 Sentence denotes Patient 1 had a homozygous G to A nucleotide change at the 5' donor splice site of exon/intron 2.
TextSentencer_T8 630-697 Sentence denotes This resulted in a silent change at codon 34 of the mature protein.
T8 630-697 Sentence denotes This resulted in a silent change at codon 34 of the mature protein.
TextSentencer_T9 698-838 Sentence denotes In vitro splicing assays showed that the mutant minigene dramatically affected pre-mRNA processing, causing exon 2 to be completely skipped.
T9 698-838 Sentence denotes In vitro splicing assays showed that the mutant minigene dramatically affected pre-mRNA processing, causing exon 2 to be completely skipped.
TextSentencer_T10 839-974 Sentence denotes The putative product from a new out-of-frame translational start point in exon 3 is expected to yield a nonsense 25-amino-acid peptide.
T10 839-974 Sentence denotes The putative product from a new out-of-frame translational start point in exon 3 is expected to yield a nonsense 25-amino-acid peptide.
TextSentencer_T11 975-1221 Sentence denotes In patient 2, sequence analysis revealed a compound heterozygosis for the already reported 313delT (C105Vfs114X) mutation and for a second novel mutation in exon 3, substituting G for A at cDNA nucleotide position 323, resulting in a C88Y change.
T11 975-1221 Sentence denotes In patient 2, sequence analysis revealed a compound heterozygosis for the already reported 313delT (C105Vfs114X) mutation and for a second novel mutation in exon 3, substituting G for A at cDNA nucleotide position 323, resulting in a C88Y change.
TextSentencer_T12 1222-1334 Sentence denotes This cysteine residue is conserved among all dimeric pituitary and placental glycoprotein hormone-beta subunits.
T12 1222-1334 Sentence denotes This cysteine residue is conserved among all dimeric pituitary and placental glycoprotein hormone-beta subunits.
TextSentencer_T13 1335-1431 Sentence denotes Data from in silico analysis confirmed that the C88Y mutation would affect subunit conformation.
T13 1335-1431 Sentence denotes Data from in silico analysis confirmed that the C88Y mutation would affect subunit conformation.
TextSentencer_T14 1432-1554 Sentence denotes Indeed, two different bioinformatics approaches, PolyPhen and SIFT analysis, predicted C88Y to be a damaging substitution.
T14 1432-1554 Sentence denotes Indeed, two different bioinformatics approaches, PolyPhen and SIFT analysis, predicted C88Y to be a damaging substitution.
TextSentencer_T15 1555-1567 Sentence denotes CONCLUSIONS:
T15 1555-1567 Sentence denotes CONCLUSIONS:
TextSentencer_T16 1568-1736 Sentence denotes In isolated TSH deficiency, the exact molecular diagnosis is mandatory for diagnosis of isolated pituitary deficiency, delineation of prognosis, and genetic counseling.
T16 1568-1736 Sentence denotes In isolated TSH deficiency, the exact molecular diagnosis is mandatory for diagnosis of isolated pituitary deficiency, delineation of prognosis, and genetic counseling.
TextSentencer_T17 1737-1862 Sentence denotes Moreover, diagnosis of central hypothyroidism should be considered in the face of severe infant anemia of uncertain etiology.
T17 1737-1862 Sentence denotes Moreover, diagnosis of central hypothyroidism should be considered in the face of severe infant anemia of uncertain etiology.