LitCoin-sentences  

PubMed:17177139 JSONTXT 28 Projects

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Id Subject Object Predicate Lexical cue
T1 0-109 Sentence denotes A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.
T2 110-353 Sentence denotes Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH.
T3 354-450 Sentence denotes The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta).
T4 451-574 Sentence denotes Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta.
T5 575-697 Sentence denotes The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight.
T6 698-751 Sentence denotes Biochemical tests showed elevated free thyroxine (T4:
T7 752-806 Sentence denotes 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3:
T8 807-934 Sentence denotes 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4).
T9 935-1034 Sentence denotes Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH.
T10 1035-1205 Sentence denotes Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D).
T11 1206-1276 Sentence denotes Further functional analyses of the novel TRbeta mutant were conducted.
T12 1277-1461 Sentence denotes We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA.
T13 1462-1720 Sentence denotes However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter.
T14 1721-1890 Sentence denotes Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter.
T15 1891-2016 Sentence denotes These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family.