(Q46943566)

English

A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels

scientific article published on 14 February 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Sachiko Kitanaka

1

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

Ayaka Takeda

2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

Utako Sato

3

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

Yuko Miki

4

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

Akira Hishinuma

5

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

Tamio Ieiri

6

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

Takashi Igarashi

7

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

publication date

14 February 2006

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

51

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

4

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

379-382

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

https://scigraph.springernature.com/pub.10.1007/s10038-006-0360-2

0 references

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin causes congenital goiter with hypothyroidism in the cog/cog mouse: a model of human endoplasmic reticulum storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital goiter sustaining normal level of serum triiodothyronine

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Measurement of free triiodothyronine in serum in the presence of autoantibodies to it.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Consensus sequences for early iodination and hormonogenesis in human thyroglobulin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No interference by diclofenac with the new Vitros FT3II assay reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Up to date with human thyroglobulin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Antibody interference in thyroid assays: a potential for clinical misinformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic organization of the human thyroglobulin gene: the complete intron-exon structure.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin

1 reference

https://pubmed.ncbi.nlm.nih.gov/16477365

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-006-0360-2

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 December 2017

http://europepmc.org/abstract/MED/16477365

ResearchGate publication ID

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