Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site (Q24564737)

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Language	Label	Description	Also known as
English	Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site	scientific article

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scholarly article

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Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site (English)

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congenital disorder

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congenital hypothyroidism

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based on heuristic

inferred from title

Samuel Refetoff

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ORCID Public Data File 2021

author name string

J Pohlenz

1

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I M Rosenthal

2

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R E Weiss

3

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S M Jhiang

4

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C Burant

5

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S Refetoff

6

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language of work or name

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publication date

1 March 1998

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Journal of Clinical Investigation

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101

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5

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1028-35

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Cloning of the human sodium lodide symporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

24 March 2017

Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

24 March 2017

Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan

1 reference

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24 March 2017

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

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24 March 2017

Expression, exon-intron organization, and chromosome mapping of the human sodium iodide symporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

24 March 2017

Membrane topology of the human Na+/glucose cotransporter SGLT1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

24 March 2017

Cloning and characterization of the thyroid iodide transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

24 March 2017

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

24 March 2017

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

27 September 2017

Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

27 September 2017

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

27 September 2017

Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical ph

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

27 September 2017

Comparison of Epidemiological Data on Congenital Hypothyroidism in Europe with Those of Other Parts in the World

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

27 September 2017

Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

27 September 2017

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

30 May 2018

Defects in RNA splicing and the consequence of shortened translational reading frames

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

30 May 2018

Deoxyribonucleic acid analyses of five families with familial inherited thyroid stimulating hormone deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

30 May 2018

Mammalian facilitative glucose transporters: evidence for similar substrate recognition sites in functionally monomeric proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

30 May 2018

Compound missense mutations in the sodium/D-glucose cotransporter result in trafficking defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

28 November 2018

Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=508654

28 November 2018

The Salivary Iodide Trap in Nontoxic Goiter

1 reference

https://pubmed.ncbi.nlm.nih.gov/9486973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Iodide transport in a continuous line of cultured cells from rat thyroid

1 reference

https://pubmed.ncbi.nlm.nih.gov/9486973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of the thyroid sodium/iodide symporter in Xenopus laevis oocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9486973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9486973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Some observations on cretinism and its treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/9486973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9486973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence-based typing of HLA-A2 alleles using a primer with an extra base mismatch

1 reference

https://pubmed.ncbi.nlm.nih.gov/9486973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial Defect of Iodide Trapping Mechanism in Two Siblings with Congenital Goiter and Hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/9486973

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1172/JCI1504

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