Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis
about
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleTbx20 regulates a genetic program essential to adult mouse cardiomyocyte functionVariants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular BlockIdentifying quantitative trait loci affecting resistance to congenital hypothyroidism in 129/SvJcl strain mice.High prevalence of associated birth defects in congenital hypothyroidism.Congenital hypothyroidism.TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.The ambiguous role of NKX2-5 mutations in thyroid dysgenesis.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 dysgenesisMutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.Mutations in ZIC3 and ACVR2B are a common cause of heterotaxy and associated cardiovascular anomalies.The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism.Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glandsHomozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.The Na+/I- symporter (NIS): mechanism and medical impact.Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran.Epidemiology of congenital hypothyroidism: what can be deduced from the Italian registry of infants with congenital hypothyroidism.The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.Defects of Thyroid Hormone Synthesis and Action.Combined promoter haplotypes of the IL10R genes are associated with protection against severe malaria in Gabonese children.DuOx2 Promoter Regulation by Hormones, Transcriptional Factors and the Coactivator TAZ.Co-option of the cardiac transcription factor Nkx2.5 during development of the emu wing.Congenital anomalies in infant with congenital hypothyroidism.Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism.Congenital hypothyroidism: insights into pathogenesis and treatment.Clinical course of infants with congenital heart disease who developed thyroid dysfunction within 100 days.Hypothalamus-Pituitary-Thyroid Axis.High-resolution melting analysis (HRM) for mutational screening of Dnajc17 gene in patients affected by thyroid dysgenesis.Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence?NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.NKX2.5 is expressed in papillary thyroid carcinomas and regulates differentiation in thyroid cells.High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism
P2860
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P2860
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis
description
2006 nî lūn-bûn
@nan
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@ast
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@en
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@en-gb
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@nl
type
label
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@ast
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@en
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@en-gb
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@nl
prefLabel
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@ast
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@en
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@en-gb
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@nl
P2093
P50
P921
P3181
P356
P1476
Missense mutation in the trans ...... ogenesis of thyroid dysgenesis
@en
P2093
Anna Perri
Annamaria Rosica
Cristina Fazzini
Gianfranco Fenzi
Lidia Moschini
Mariangiola Baserga
Mariella Sorcini
Mario De Felice
Monica Dentice
Pietro Costa
P304
P3181
P356
10.1210/JC.2005-1350
P407
P50
P577
2006-04-01T00:00:00Z