Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice
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Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiencyThyroid toxicants: assessing reproductive health effectsAn official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancyNkx2-1: a novel tumor biomarker of lung cancerThe requirement of Nkx2-1 in the temporal specification of cortical interneuron subtypesThyroid-specific enhancer-binding protein/NKX2.1 is required for the maintenance of ordered architecture and function of the differentiated thyroidWnt-independent role of β-catenin in thyroid cell proliferation and differentiation.Altered parvalbumin-positive neuron distribution in basal ganglia of individuals with Tourette syndrome.Congenital hypothyroidism.TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.Interstitial lung diseases in children.A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.Sequence-specific DNA binding by the vnd/NK-2 homeodomain of Drosophila.European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.Identification of a proximal progenitor population from murine fetal lungs with clonogenic and multilineage differentiation potential.Transcription factor haploinsufficiency: when half a loaf is not enough.Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.Thyroid-specific transcription factors and their roles in thyroid cancer.Surfactant dysfunction.Genetics of congenital hypothyroidismGenetic Basis of Children's Interstitial Lung Disease.Excess folate during adolescence suppresses thyroid function with permanent deficits in motivation and spatial memoryA national internet-linked based database for pediatric interstitial lung diseases: the French network.The integrity of cholinergic basal forebrain neurons depends on expression of Nkx2-1High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role?Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanismsHeterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.A mutation in TTF1/NKX2.1 is associated with familial neuroendocrine cell hyperplasia of infancy.Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glandsThe Na+/I- symporter (NIS): mechanism and medical impact.Lung development: orchestrating the generation and regeneration of a complex organ.Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.Homologs of genes expressed in Caenorhabditis elegans GABAergic neurons are also found in the developing mouse forebrain.Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.Regenerative therapy for hypothyroidism: Mechanisms and possibilities.The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.Resistance to thyrotropin.DuOx2 Promoter Regulation by Hormones, Transcriptional Factors and the Coactivator TAZ.Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.Gbetagamma dimers released in response to thyrotropin activate phosphoinositide 3-kinase and regulate gene expression in thyroid cells.
P2860
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P2860
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice
description
2002 nî lūn-bûn
@nan
2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Partial deficiency of thyroid ...... cal defects in humans and mice
@ast
Partial deficiency of thyroid ...... cal defects in humans and mice
@en
Partial deficiency of thyroid ...... cal defects in humans and mice
@nl
type
label
Partial deficiency of thyroid ...... cal defects in humans and mice
@ast
Partial deficiency of thyroid ...... cal defects in humans and mice
@en
Partial deficiency of thyroid ...... cal defects in humans and mice
@nl
prefLabel
Partial deficiency of thyroid ...... cal defects in humans and mice
@ast
Partial deficiency of thyroid ...... cal defects in humans and mice
@en
Partial deficiency of thyroid ...... cal defects in humans and mice
@nl
P2093
P2860
P356
P1476
Partial deficiency of thyroid ...... cal defects in humans and mice
@en
P2093
Alexandra Dumitrescu
Dorothee Zundel
Eugene Koo
Joachim Pohlenz
Ronald N Cohen
Roy E Weiss
Samuel Refetoff
Shioko Kimura
Ursula Martiné
Winfried Schönberger
P2860
P304
P356
10.1172/JCI14192
P407
P577
2002-02-01T00:00:00Z