Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism (Q37686783)

22 August 2017

Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism (English)

1 reference

congenital hypothyroidism

22 August 2017

0 references

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Fatimah Harun

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Muhammad Yazid Jalaludin

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Chor Yin Lim

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Khoon Leong Ng

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

language of work or name

English

0 references

publication date

17 March 2014

1 reference

BioMed Research International

22 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

370538

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 3.0 Unported

31 May 2020

start time

1 January 2014

1 reference

April 2022 Public Data File from Crossref

copyrighted

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Genetics and phenomics of hypothyroidism and goiter due to TPO mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Increase in congenital hypothyroidism in New York State and in the United States

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

The nonsense-mediated decay RNA surveillance pathway

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Messenger RNA surveillance: neutralizing natural nonsense

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Intracellular trafficking of thyroid peroxidase to the cell surface

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Nonsense-mediated mRNA decay in mammals

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Perspective: genetic defects in the etiology of congenital hypothyroidism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Listening to silence and understanding nonsense: exonic mutations that affect splicing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Nonsense-mediated mRNA decay in health and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Isolation of a complementary DNA clone for thyroid microsomal antigen. Homology with the gene for thyroid peroxidase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Human thyroid peroxidase: complete cDNA and protein sequence, chromosome mapping, and identification of two alternately spliced mRNAs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Thyroperoxidase, an auto-antigen with a mosaic structure made of nuclear and mitochondrial gene modules.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Molecular cloning of the complementary deoxyribonucleic acid for human thyroid peroxidase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Evidence for an alternate splicing in the thyroperoxidase messenger from patients with Graves' disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Thyroid peroxidase forms thionamide-sensitive homodimers: relevance for immunomodulation of thyroid autoimmunity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Nonsense-mediated mRNA decay (NMD) mechanisms

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Inborn errors of thyroid hormone biosynthesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Determination at the Molecular Level of a B-Cell Epitope on Thyroid Peroxidase Likely to Be Associated with Autoimmune Thyroid Disease*

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Expression of tpo mRNA in thyroid tumors: quantitative PCR analysis and correlation with alterations of ret, Braf , ras and pax8 genes.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Increasing diversity of human thyroperoxidase generated by alternative splicing. Characterized by molecular cloning of new transcripts with single- and multispliced mRNAs.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

mRNA surveillance in mammalian cells: the relationship between introns and translation termination

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Congenital hypothyroid screening using cord blood TSH.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3976875

Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1155%2F2014%2F370538

The association of nonsense codons with exon skipping

21 January 2018

1 reference

12 December 2020

Mutation analysis of thyroid peroxidase gene in Chinese patients with total iodide organification defect: identification of five novel mutations

1 reference

12 December 2020

Regional localization of the gene for thyroid peroxidase to human chromosome 2p25 and mouse chromosome 12C

1 reference

12 December 2020

Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect

1 reference

12 December 2020

Human Thyroperoxidase in Its Alternatively Spliced Form (TPO2) Is Enzymatically Inactive and Exhibits Changes in Intracellular Processing and Trafficking

1 reference

12 December 2020

High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect

1 reference

12 December 2020

Alternatively spliced form of human thyroperoxidase, TPOzanelli: activity, intracellular trafficking, and role in hormonogenesis

1 reference

12 December 2020

Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors

1 reference

12 December 2020

Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies

1 reference

12 December 2020

Identifiers

DOI

10.1155/2014/370538

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

release_rpld4o5czvccxi42u3eloy3vw4

31 May 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rpld4o5czvccxi42u3eloy3vw4

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

PubMed publication ID

24745015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24745015%20AND%20SRC:MED&resulttype=core&format=json