Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.
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Inherited defects in thyroid hormone cell-membrane transport and metabolismGenetic disorders of thyroid metabolism and brain developmentFurther Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 MutationIn vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiencyMutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distributionMinireview: thyroid hormone transporters: the knowns and the unknowns.Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.Thyroid hormone action: astrocyte-neuron communication.Structure and function of thyroid hormone plasma membrane transporters.Thyroid hormone transporters--functions and clinical implications.Evidence for a homodimeric structure of human monocarboxylate transporter 8.Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.Understanding the hypothalamus-pituitary-thyroid axis in mct8 deficiency.Few Amino Acid Exchanges Expand the Substrate Spectrum of Monocarboxylate Transporter 10Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.Hypotonic male infant and MCT8 deficiency - a diagnosis to think about.White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.Membrane-traversing mechanism of thyroid hormone transport by monocarboxylate transporter 8.
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P2860
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 10 January 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Genotype-phenotype relationshi ...... roid hormone transporter MCT8.
@en
Genotype-phenotype relationshi ...... roid hormone transporter MCT8.
@nl
type
label
Genotype-phenotype relationshi ...... roid hormone transporter MCT8.
@en
Genotype-phenotype relationshi ...... roid hormone transporter MCT8.
@nl
prefLabel
Genotype-phenotype relationshi ...... roid hormone transporter MCT8.
@en
Genotype-phenotype relationshi ...... roid hormone transporter MCT8.
@nl
P2093
P2860
P356
P1433
P1476
Genotype-phenotype relationshi ...... roid hormone transporter MCT8.
@en
P2093
Charles E Schwartz
Edith C H Friesema
Jurgen Jansen
Monique H A Kester
Theo J Visser
P2860
P304
P356
10.1210/EN.2007-1475
P407
P577
2008-01-10T00:00:00Z