Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. (Q35197836)

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21 September 2019

title

Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene (English)

1 reference

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21 September 2019

author name string

C Dacou-Voutetakis

1

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21 September 2019

D M Feltquate

2

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21 September 2019

M Drakopoulou

3

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21 September 2019

I A Kourides

4

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21 September 2019

N C Dracopoli

5

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21 September 2019

language of work or name

English

0 references

publication date

1 May 1990

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American Journal of Human Genetics

21 September 2019

published in

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21 September 2019

volume

46

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21 September 2019

issue

5

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21 September 2019

page(s)

988-993

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Structural gene for beta-nerve growth factor not defective in familial dysautonomia

21 September 2019

cites work

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28 July 2018

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DNA methylation and the frequency of CpG in animal DNA.

28 July 2018

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Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia

28 July 2018

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Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.

28 July 2018

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Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

28 July 2018

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Molecular cloning of the human thyrotropin-beta subunit gene

28 July 2018

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DNA sequence analysis with a modified bacteriophage T7 DNA polymerase

28 July 2018

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The human thyrotropin beta-subunit gene differs in 5' structure from murine TSH-beta genes

28 July 2018

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Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

28 July 2018

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Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy

28 July 2018

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Identification of a missense mutation in the factor VIII gene of a mild hemophiliac

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4.

28 July 2018

1 reference

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Assignment of the gene for the beta subunit of thyroid-stimulating hormone to the short arm of human chromosome 1.

28 July 2018

1 reference

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

28 July 2018

1 reference

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Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Twenty-eight loci form a continuous linkage map of markers for human chromosome 1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

A genetic linkage map of 27 loci from PND to FY on the short arm of human chromosome I.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Loss of heterozygosity at autosomal and X-linked loci during tumor progression in a patient with melanoma

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene

28 July 2018

1 reference

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Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Isolation and characterization of the human thyrotropin beta-subunit gene. Differences in gene structure and promoter function from murine species

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683608

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

28 July 2018

1 reference

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Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene

28 July 2018

1 reference

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Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

28 July 2018

1 reference

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Familial isolated thyrotropin deficiency with cretinism

26 September 2018

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12 December 2020

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

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12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

Familial growth retardation with isolated thyroid-stimulating hormone deficiency

1 reference

12 December 2020

Two thyroid hormone regulated genes, the beta-subunits of nerve growth factor (NGFB) and thyroid stimulating hormone (TSHB), are located less than 310 kb apart in both human and mouse genomes

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1971148 AND SRC:MED&resulttype=core&format=json

21 September 2019

PubMed publication ID

1971148

1 reference