(Q43172140)

English

Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter

scientific article published on 24 June 2005

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scholarly article

1 reference

Europe PubMed Central

15 November 2017

0 references

Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter (English)

1 reference

Europe PubMed Central

15 November 2017

Allan-Herndon-Dudley syndrome

1 reference

based on heuristic

inferred from title

Maria Rita Passos-Bueno

7

object named as

M R Passos-Bueno

1 reference

Europe PubMed Central

15 November 2017

author name string

C M C Maranduba

1

1 reference

Europe PubMed Central

15 November 2017

E C H Friesema

2

1 reference

Europe PubMed Central

15 November 2017

F Kok

3

1 reference

Europe PubMed Central

15 November 2017

M H A Kester

4

1 reference

Europe PubMed Central

15 November 2017

J Jansen

5

1 reference

Europe PubMed Central

15 November 2017

A L Sertié

6

1 reference

Europe PubMed Central

15 November 2017

T J Visser

8

1 reference

Europe PubMed Central

15 November 2017

language of work or name

0 references

publication date

24 June 2005

1 reference

Europe PubMed Central

15 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

15 November 2017

43

1 reference

Europe PubMed Central

15 November 2017

5

1 reference

Europe PubMed Central

15 November 2017

457-460

1 reference

Europe PubMed Central

15 November 2017

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

An mRNA surveillance mechanism that eliminates transcripts lacking termination codons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

Allan-Herndon syndrome. I. Clinical studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

Allan-Herndon syndrome--or X-linked cerebral palsy?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

25 May 2018

Iodothyronine levels in the human developing brain: major regulatory roles of iodothyronine deiodinases in different areas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

15 August 2018

Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

15 August 2018

Triiodothyronine but not thyroxine accelerates myofibrillar proteolysis via ATP production in cultured muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

15 August 2018

Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649011

15 August 2018

Dose response of protein turnover in rat skeletal muscle to triiodothyronine treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/15980113

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.035840

1 reference

Europe PubMed Central

15 November 2017

1 reference

Europe PubMed Central

15 November 2017

1 reference

Europe PubMed Central

15 November 2017

ResearchGate publication ID

0 references

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