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Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation
scientific journal article
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scholarly article
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
title
Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation
(English)
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
main subject
Solute carrier family 16 member 2
1 reference
stated in
GOA release 2020-03-11
thyroid hormone transport
1 reference
stated in
GOA release 2020-03-11
Allan-Herndon-Dudley syndrome
1 reference
based on heuristic
inferred from title
author name string
Christine M. Armour
series ordinal
1
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
Simone Kersseboom
series ordinal
2
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
Grace Yoon
series ordinal
3
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
Theo J. Visser
series ordinal
4
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
language of work or name
English
0 references
publication date
1 January 2015
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
published in
PLOS One
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
volume
10
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
issue
10
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
page(s)
e0139343
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
copyright license
Creative Commons Attribution 4.0 International
start time
1 October 2015
1 reference
stated in
April 2022 Public Data File from Crossref
copyright status
copyrighted
0 references
cites work
Cloning and sequencing of four new mammalian monocarboxylate transporter (MCT) homologues confirms the existence of a transporter family with an ancient past
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
20 March 2017
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
20 March 2017
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
20 March 2017
Fiji: an open-source platform for biological-image analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
6 April 2017
Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
20 March 2017
A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
The pathophysiological consequences of thyroid hormone transporter deficiencies: Insights from mouse models
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Developmental and cell type-specific expression of thyroid hormone transporters in the mouse brain and in primary brain cells
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Genetics and phenomics of thyroid hormone transport by MCT8.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type-dependent
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Thyroid hormone receptors in brain development and function
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
Synthesis and some properties of sulfate esters and sulfamates of iodothyronines
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
29 September 2017
X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4591285
retrieved
2 June 2018
Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0139343
retrieved
21 January 2018
Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0139343
retrieved
21 January 2018
Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0139343
retrieved
21 January 2018
Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0139343
retrieved
21 January 2018
Neuroanatomical pathways for thyroid hormone feedback in the human hypothalamus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0139343
retrieved
21 January 2018
Tetrac can replace thyroid hormone during brain development in mouse mutants deficient in the thyroid hormone transporter mct8.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0139343
retrieved
21 January 2018
MCT8: from gene to disease and therapeutic approach
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0139343
retrieved
21 January 2018
Identifiers
DOI
10.1371/JOURNAL.PONE.0139343
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ADS bibcode
2015PLoSO..1039343A
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PMCID
4591285
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PubMed ID
26426690
1 reference
stated in
PubMed
PubMed ID
26426690
retrieved
4 January 2017
ResearchGate publication ID
282361930
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