Associated Papers
MCT8 Deficiency in Females.
Groeneweg S et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S et al.
Nature Communications, 2025
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Iwayama H et al.
Thyroid : Official Journal of the American Thyroid Association, 2021
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.
Iwayama H et al.
Frontiers in Neurology, 2021
Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
Choi JH et al.
Hormone Research in Paediatrics, 2018
Disorder of thyroid hormone transport into the tissues.
Groeneweg S et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings.
Fu J et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2013
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
Capri Y et al.
Human Mutation, 2013
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
Kersseboom S et al.
Molecular Endocrinology (baltimore, Md.), 2013
Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.
Kleinau G et al.
Thyroid Research, 2011
Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.
Kinne A et al.
The Journal of Biological Chemistry, 2010
Genetics and phenomics of thyroid hormone transport by MCT8.
Friesema EC et al.
Molecular and Cellular Endocrinology, 2010
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.
Vaurs-Barrière C et al.
Annals of Neurology, 2009