(Q46476670)

22 December 2017

title

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations (English)

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22 December 2017

author name string

W Edward Visser

1

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22 December 2017

Jurgen Jansen

2

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22 December 2017

Edith C H Friesema

3

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22 December 2017

Monique H A Kester

4

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22 December 2017

Edna Mancilla

5

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22 December 2017

Johan Lundgren

6

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22 December 2017

Marjo S van der Knaap

7

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22 December 2017

Roelineke J Lunsing

8

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22 December 2017

Oebele F Brouwer

9

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22 December 2017

Theo J Visser

10

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22 December 2017

publication date

1 January 2009

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22 December 2017

published in

Human Mutation

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22 December 2017

volume

30

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22 December 2017

issue

1

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22 December 2017

page(s)

29-38

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22 December 2017

Deiodinases: implications of the local control of thyroid hormone action

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Predictive identification of exonic splicing enhancers in human genes

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https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Alternative splicing and diversity of renal transporters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Plasma Membrane Transport of Thyroid Hormones and Its Role in Thyroid Hormone Metabolism and Bioavailability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene

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https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Thyroid hormone responsive genes in cultured human fibroblasts.

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https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Stimulation of glucose transport by thyroid hormone in 3T3-L1 adipocytes: increased abundance of GLUT1 and GLUT4 glucose transporter proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Thyroid hormone transport in and out of cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Thyroid hormone action at the cellular, genomic and target gene levels.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20808

7 January 2021

Identifiers

DOI

10.1002/HUMU.20808

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22 December 2017

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22 December 2017