Congenital hypothyroidism caused by a mutation in the Na+/I- symporter

scientific article (publication date: June 1997)

Congenital hypothyroidism caused by a mutation in the Na+/I- symporter is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/NG0697-124
P3181OpenCitations bibliographic resource ID2213844
P698PubMed publication ID9171822
P5875ResearchGate publication ID14046568

P2093author name stringS Takai
T Harada
H Fujiwara
K Tatsumi
N Amino
K Miki
K Miyai
P2860cites workDefects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorptionQ24317312
Cloning of the human sodium lodide symporterQ24323256
Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiterQ28115343
Cretinism with combined hormone deficiency caused by a mutation in the PIT1 geneQ28207803
Cloning and characterization of the thyroid iodide transporterQ28273142
A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidismQ34213679
A functional superfamily of sodium/solute symportersQ34330234
Congenital Goiter with Defective Iodide TransportQ40137796
The syndromes of resistance to thyroid hormoneQ40820044
Iodide transport in a continuous line of cultured cells from rat thyroidQ71296565
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectcongenital hypothyroidismQ531012
congenital disorderQ727096
P304page(s)124-5
P577publication date1997-06-01
P1433published inNature GeneticsQ976454
P1476titleCongenital hypothyroidism caused by a mutation in the Na+/I- symporter
P478volume16

Reverse relations

cites work (P2860)
Q34269861An Outline of Inherited Disorders of the Thyroid Hormone Generating System
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Q60923387Clinical genetics of defects in thyroid hormone synthesis
Q42408436Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect
Q24564737Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site
Q77179737DIDS (4,4'-diisothiocyanatostilbene-2,2'-disulfonic acid) increases iodide trapping, inhibits thyroperoxidase and antagonizes the TSH-induced apical iodide efflux in porcine thyroid cells
Q50289046Defective SLC5A5 does not cotransport Na+ with I- from extracellular region to cytosol
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