Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
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The sodium iodide symporter (NIS) as an imaging reporter for gene, viral, and cell-based therapiesGenetic causes of congenital hypothyroidism due to dyshormonogenesisGenomics and phenomics of Hashimoto's thyroiditis in children and adolescents: a prospective study from Southern IndiaSterol regulatory element-binding proteins are regulators of the NIS gene in thyroid cells.Regulation of thyroid oxidative state by thioredoxin reductase has a crucial role in thyroid responses to iodide excess.Iodide transport: implications for health and disease.Common subclinical hypothyroidism during Whipple's disease.Mechanism of anion selectivity and stoichiometry of the Na+/I- symporter (NIS).Rare thyroid non-neoplastic diseasesHigh-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis.Asn441 plays a key role in folding and function of the Na+/I- symporter (NIS).The iodide-transport-defect-causing mutation R124H: a δ-amino group at position 124 is critical for maturation and trafficking of the Na+/I- symporter.Oral contrast enhances the resolution of in-life NIS reporter gene imaging.Genotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South IndiaThe G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital HypothyroidismDefective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter.A Novel Missense Mutation in SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism.Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.
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P2860
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 12 February 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
@en
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
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type
label
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
@en
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
@nl
prefLabel
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
@en
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
@nl
P2860
P1476
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
@en
P2093
Christine Spitzweg
John C Morris
P2860
P356
10.1016/J.MCE.2010.02.007
P577
2010-02-12T00:00:00Z