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Iodide Transport Defect

 
National Institutes of Health

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5 relations
Endocrine systemHead and neck structureNeckThyroid Gland
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Papers overview

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2019
2019
Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
BACKGROUND Iodide transport defect (ITD) is an autosomal recessive disorder caused by deficient iodide accumulation into the… Expand
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2016
2016
Iodide Transport Defect and Breast Milk Iodine
Background: Iodide transport defect (ITD) is a dyshormonogenetic congenital hypothyroidism caused by sodium/iodide symporter (NIS… Expand
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2011
2011
Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.
CONTEXT Iodide transport defect (ITD) is an autosomal recessive disorder caused by impaired Na(+)/I(-) symporter (NIS)-mediated… Expand
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2010
2010
Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect
Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid… Expand
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Review
2010
Review
2010
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations
Molecular cloning of the NIS gene in 1996 allowed examination of the molecular basis of congenital hypothyroidism due to iodide… Expand
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2010
2010
Diagnosis of iodide transport defect: do we need to measure the saliva/serum radioactive iodide ratio to diagnose iodide transport defect?
BACKGROUND Iodide transport defect (ITD) is an infrequent condition associated with congenital dyshormonogenetic goiter due to… Expand
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Review
2006
Review
2006
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD.
CONTEXT Iodide transport defect (ITD) is an autosomal recessive disorder resulting in varying degrees of congenital… Expand
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2004
2004
The Q267E mutation in the sodium/iodide symporter (NIS) causes congenital iodide transport defect (ITD) by decreasing the NIS turnover number
The Na+/I- symporter (NIS) is a key plasma membrane glycoprotein that mediates active iodide (I-) transport in the thyroid and… Expand
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2003
2003
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
OBJECTIVE Iodide transport defect (ITD) is a rare disorder characterised by an inability of the thyroid to maintain an iodide… Expand
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1998
1998
Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.
Iodide transport defect (ITD) is a rare disorder causing congenital hypothyroidism. We previously reported that homozygous T354P… Expand
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