Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.
about
A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40-repeat protein linked to deafnessGeneralized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor betaApproach to the patient with resistance to thyroid hormone and pregnancyA base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindredsCharacterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domainRole and Mechanisms of Actions of Thyroid Hormone on the Skeletal DevelopmentThe syndromes of reduced sensitivity to thyroid hormoneHomozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.Divergent roles for thyroid hormone receptor beta isoforms in the endocrine axis and auditory system.Transcriptional regulation by nonclassical action of thyroid hormoneThyroid hormone receptor beta-dependent expression of a potassium conductance in inner hair cells at the onset of hearing.Abnormal heart rate and body temperature in mice lacking thyroid hormone receptor alpha 1Guidelines for the treatment of hypothyroidism: prepared by the american thyroid association task force on thyroid hormone replacementAn evo-devo approach to thyroid hormones in cerebral and cerebellar cortical development: etiological implications for autismGestational and early postnatal hypothyroidism alters VGluT1 and VGAT bouton distribution in the neocortex and hippocampus, and behavior in rats.Complete activation of thyroid hormone receptor β by T3 is essential for normal cochlear function and morphology in mice.A protective role for type 3 deiodinase, a thyroid hormone-inactivating enzyme, in cochlear development and auditory function.Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor functionHyperthyroidism due to familial pituitary resistance to thyroid hormone: successful control with 3, 5, 3' triiodothyroacetic associated to propranolol.Phenotypic variability in patients with generalised resistance to thyroid hormone.Thyroid hormones regulate selenoprotein expression and selenium status in mice.Dual functions of thyroid hormone receptors in vertebrate development: the roles of histone-modifying cofactor complexesAn arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.Retardation of post-natal development caused by a negatively acting thyroid hormone receptor alpha1Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutationMechanisms of thyroid hormone action[Thyroid hormone resistance syndrome].Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of "inappropriate secretion of TSH".Partial target organ resistance to thyroid hormone.Alpha and beta thyroid hormone receptor (TR) gene expression during auditory neurogenesis: evidence for TR isoform-specific transcriptional regulation in vivoUnliganded thyroid hormone receptor α controls developmental timing in Xenopus tropicalisType 2 iodothyronine deiodinase expression in the cochlea before the onset of hearingHyperactivity and learning deficits in transgenic mice bearing a human mutant thyroid hormone beta1 receptor geneResistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene.Thyroid hormone receptor mutations in cancer and resistance to thyroid hormone: perspective and prognosisAn intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone.Differentiated thyroid cancer in patients with resistance to thyroid hormone syndrome. A novel case and a review of the literature.Germline and somatic thyroid hormone receptor mutations in man.
P2860
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P2860
Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.
description
1967 nî lūn-bûn
@nan
1967 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1967 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1967年の論文
@ja
1967年論文
@yue
1967年論文
@zh-hant
1967年論文
@zh-hk
1967年論文
@zh-mo
1967年論文
@zh-tw
1967年论文
@wuu
name
Familial syndrome combining de ...... actoriness to thyroid hormone.
@ast
Familial syndrome combining de ...... actoriness to thyroid hormone.
@en
Familial syndrome combining de ...... actoriness to thyroid hormone.
@nl
type
label
Familial syndrome combining de ...... actoriness to thyroid hormone.
@ast
Familial syndrome combining de ...... actoriness to thyroid hormone.
@en
Familial syndrome combining de ...... actoriness to thyroid hormone.
@nl
prefLabel
Familial syndrome combining de ...... actoriness to thyroid hormone.
@ast
Familial syndrome combining de ...... actoriness to thyroid hormone.
@en
Familial syndrome combining de ...... actoriness to thyroid hormone.
@nl
P2093
P356
P1476
Familial syndrome combining de ...... actoriness to thyroid hormone.
@en
P2093
P304
P356
10.1210/JCEM-27-2-279
P407
P577
1967-02-01T00:00:00Z