Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical ph
about
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice siteApproach to the patient with resistance to thyroid hormone and pregnancyThe syndromes of reduced sensitivity to thyroid hormoneThyroid hormone receptor α and regulation of type 3 deiodinase.Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locusA natural transactivation mutation in the thyroid hormone beta receptor: impaired interaction with putative transcriptional mediators.Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease.Unliganded thyroid hormone receptor beta1 inhibits proliferation of murine fibroblasts by delaying the onset of the G1 cell-cycle signals.A potential role of activated NF-kappa B in the pathogenesis of euthyroid sick syndromeA role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone.A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRα and TRβ isoforms.Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience.RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor.
P2860
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P2860
Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical ph
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Mutations of CpG dinucleotides ...... ely to produce the clinical ph
@en
type
label
Mutations of CpG dinucleotides ...... ely to produce the clinical ph
@en
prefLabel
Mutations of CpG dinucleotides ...... ely to produce the clinical ph
@en
P2093
P2860
P356
P1476
Mutations of CpG dinucleotides ...... ely to produce the clinical ph
@en
P2093
S Refetoff
T Sunthornthepvarakul
P2860
P304
P356
10.1172/JCI117376
P407
P577
1994-08-01T00:00:00Z