(Q34213679)

31 July 2017

title

A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism (English)

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31 July 2017

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Ieiri T

1

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31 July 2017

Cochaux P

2

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31 July 2017

Targovnik HM

3

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31 July 2017

Suzuki M

4

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31 July 2017

Shimoda S

5

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31 July 2017

Perret J

6

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31 July 2017

Vassart G

7

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31 July 2017

language of work or name

English

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publication date

1 December 1991

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Journal of Clinical Investigation

31 July 2017

published in

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31 July 2017

volume

88

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31 July 2017

issue

6

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31 July 2017

page(s)

1901-1905

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Congenital goiter with iodoalbumin replacing thyroglobulin and defect of deiodination of iodotyrosines. Serum origin of the thyroid iodoalbumin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

The Properties of Thyroglobulin. XIV. The Structure of Reoxidized Thyroglobulin*

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Primary structure of bovine thyroglobulin deduced from the sequence of its 8,431-base complementary DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Structural organization of the 5' region of the thyroglobulin gene. Evidence for intron loss and "exonization" during evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

A nonsense mutation causes hereditary goitre in the Afrikander cattle and unmasks alternative splicing of thyroglobulin transcripts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

The complete structure of the rat thyroglobulin gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kb

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Hormone synthesis in human thyroglobulin: possible cleavage of the polypeptide chain at the tyrosine donor site

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

The congenital goiter mutation is linked to the thyroglobulin gene in the mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

RFLP detected at the 8924 locus by a thyroglobulin cDNA probe

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Consensus sequences for early iodination and hormonogenesis in human thyroglobulin.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Normal-sized thyroglobulin messenger ribonucleic acid in Dutch goats with a thyroglobulin synthesis defect is translated into a 35,000 molecular weight N-terminal fragment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Alternative splicing may be responsible for heterogeneity of thyroglobulin structure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Thyroglobulin structure and function: recent advances.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Towards an antigenic map of human thyroglobulin: identification of ten epitope-bearing sequences within the primary structure of thyroglobulin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Epitope mapping of human thyroglobulin. Heterogeneous recognition by thyroid pathologic sera

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Molecular weight of the thyroglobulin messenger RNA of sheep thyroid gland

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Molecular weight of thyroglobulin 33 S messenger RNA as determined by polyacrylamide gel electrophoresis in the presence of formamide

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Control of thyroglobulin synthesis and secretion. (First of two parts).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295759

Thyroid hormonogenesis. Identification of a sequence containing iodophenyl donor site(s) in calf thyroglobulin

5 July 2018

1 reference

12 December 2020

Location of dehydroalanine residues in the amino acid sequence of bovine thyroglobulin. Identification of "donor" tyrosine sites for hormonogenesis in thyroglobulin

1 reference

12 December 2020

Two abnormal thyroglobulin-like polypeptides are produced from Afrikander cattle congenital goiter mRNA

1 reference

12 December 2020

Cloning of human thyroglobulin complementary DNA

1 reference

12 December 2020

Application of improved coupling assay method for peroxidase of diseased thyroids: report of three cases

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI115513

1 reference

release_b2wvfkouybf7xosr6ntxayczui

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/b2wvfkouybf7xosr6ntxayczui

24 November 2022

mapped directly with Wikidata item

PMC publication ID

295759

1 reference

31 July 2017

1 reference