PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
about
Expression and function of the homeodomain-containing protein Hex in thyroid cells.WBP-2, a WW domain binding protein, interacts with the thyroid-specific transcription factor Pax8Structural defects of a Pax8 mutant that give rise to congenital hypothyroidismPartial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and miceThe paired-domain transcription factor Pax8 binds to the upstream enhancer of the rat sodium/iodide symporter gene and participates in both thyroid-specific and cyclic-AMP-dependent transcriptionGene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regionsThe Solution Structure of DNA-free Pax-8 Paired Box Domain Accounts for Redox Regulation of Transcriptional Activity in the Pax Protein FamilyA missense mutation in PAX9 in a family with distinct phenotype of oligodontiaPax-8-PPAR-γ fusion protein in thyroid carcinomaThyroid transcription factors in development, differentiation and diseaseFollicular cells of the thyroid gland require Pax8 gene functionTRANSFAC: an integrated system for gene expression regulation.Determination of the embryonic inner ear.Mutations in proteasome-related genes are associated with thyroid hemiagenesisIncreased paired box transcription factor 8 has a survival function in gliomaSemantic prioritization of novel causative genomic variantsAn essential role for Pax8 in the transcriptional regulation of cadherin-16 in thyroid cells.Transcription factors in dysmorphology.Monoallelic expression of Pax5: a paradigm for the haploinsufficiency of mammalian Pax genes?Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.The role of the PAX8/PPARgamma fusion oncogene in the pathogenesis of follicular thyroid cancerGeneration of thyroid follicular cells from pluripotent stem cells: potential for regenerative medicine.Season of conception in rural gambia affects DNA methylation at putative human metastable epialleles.Congenital hypothyroidism.Thyroid disease in relation to pregnancy: a decade of change.TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.PAX8 promotes tumor cell growth by transcriptionally regulating E2F1 and stabilizing RB protein.Genome-wide analysis of Pax8 binding provides new insights into thyroid functions.Pax8 modulates the expression of Wnt4 that is necessary for the maintenance of the epithelial phenotype of thyroid cellsEuropean Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.The spectrum of thyroid diseases in childhood and its evolution during transition to adulthood: natural history, diagnosis, differential diagnosis and management.Congenital thyroid hemiagenesis with multinodular goiterThe ambiguous role of NKX2-5 mutations in thyroid dysgenesis.Lingual thyroid and hyperthyroidism: a new case and review of the literature.Detection and treatment of congenital hypothyroidism.Functional zebrafish studies based on human genotyping point to netrin-1 as a link between aberrant cardiovascular development and thyroid dysgenesisAn epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysisPioglitazone induces a proadipogenic antitumor response in mice with PAX8-PPARgamma fusion protein thyroid carcinoma.
P2860
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P2860
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
description
1998 nî lūn-bûn
@nan
1998 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@ast
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@en
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@en-gb
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@nl
type
label
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@ast
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@en
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@en-gb
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@nl
prefLabel
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@ast
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@en
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@en-gb
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@nl
P2093
P2860
P50
P921
P3181
P356
P1433
P1476
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis
@en
P2093
A Pinchera
L Chiovato
R Di Lauro
P2860
P2888
P3181
P356
10.1038/NG0598-83
P407
P577
1998-05-01T00:00:00Z
P6179
1045620366