Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter. (Q46978981)

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8 January 2020

title

Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter (English)

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10

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author name string

Noriyuki Namba

1

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Yuri Etani

2

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Taichi Kitaoka

3

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Yasuko Nakamoto

4

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Mariko Nakacho

5

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Kazuhiko Bessho

6

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Yoko Miyoshi

7

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Sotaro Mushiake

8

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Ikuko Mohri

9

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Masako Taniike

11

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Keiichi Ozono

12

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publication date

25 September 2007

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European Journal of Pediatrics

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published in

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volume

167

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page(s)

785-791

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issue

7

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https://scigraph.springernature.com/pub.10.1007/s00431-007-0589-6

8 January 2020

exact match

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cites work

Outcome of a baby born from a mother with acquired juvenile hypothyroidism having undetectable thyroid hormone concentrations.

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12 December 2020

Thyroid hormone transporters: recent advances.

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Functional characterization of rat brain-specific organic anion transporter (Oatp14) at the blood-brain barrier: high affinity transporter for thyroxine

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Neuroanatomical pathways for thyroid hormone feedback in the human hypothalamus

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

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Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8

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12 December 2020

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.

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The SLC16 gene family?from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond

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Novel neuroanatomical pathways for thyroid hormone action in the human anterior pituitary

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The neurology of endemic cretinism. A study of two endemias

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A novel transmembrane transporter encoded by the XPCT gene in Xq13.2

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

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12 December 2020

Molecular basis of thyroid hormone-dependent brain development

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12 December 2020

Fetal tissues are exposed to biologically relevant free thyroxine concentrations during early phases of development

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Magnetic resonance imaging of brain and the neuromotor disorder in endemic cretinism.

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12 December 2020

Identification of a novel human organic anion transporting polypeptide as a high affinity thyroxine transporter

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12 December 2020

Thyroid hormone transporters

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12 December 2020

Atypical expression of type 2 iodothyronine deiodinase in thyrotrophs explains the thyroxine-mediated pituitary thyrotropin feedback mechanism.

1 reference

12 December 2020

Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter

1 reference

12 December 2020

Endemic cretinism: toward a unifying hypothesis

1 reference

12 December 2020

A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00431-007-0589-6

Identifiers

DOI

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