Different causes of Reduced Sensitivity to Thyroid Hormone: Diagnosis and Clinical management

Tetrac Can Replace Thyroid Hormone During Brain Development in Mouse Mutants Deficient in the Thyroid Hormone Transporter Mct8

(2013) Sigrun Horn et al.   ENDOCRINOLOGY

Clinical Phenotype of a New Type of Thyroid Hormone Resistance Caused by a Mutation of the TRα1 Receptor: Consequences of LT4 Treatment

(2013) Alies A. van Mullem et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Role of the type 2 iodothyronine deiodinase (D2) in the control of thyroid hormone signaling

(2012) Rafael Arrojo e Drigo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

The syndromes of reduced sensitivity to thyroid hormone

(2012) Alexandra M. Dumitrescu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Cerebellar Abnormalities in Mice Lacking Type 3 Deiodinase and Partial Reversal of Phenotype by Deletion of Thyroid Hormone Receptor α1

(2012) Robin P. Peeters et al.   ENDOCRINOLOGY

Homozygous Thyroid Hormone Receptor β-Gene Mutations in Resistance to Thyroid Hormone: Three New Cases and Review of the Literature

(2012) Alfonso Massimiliano Ferrara et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency

(2012) Charles F. Verge et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical Phenotype and Mutant TRα1

(2012) Alies van Mullem et al.   NEW ENGLAND JOURNAL OF MEDICINE

Thyroid status in a large cohort of patients with mental retardation: the TOP-R (Thyroid Origin of Psychomotor Retardation) study

(2011) Willem Edward Visser et al.   CLINICAL ENDOCRINOLOGY

Distinct Roles of Deiodinases on the Phenotype of Mct8 Defect: A Comparison of Eight Different Mouse Genotypes

(2011) Xiao-Hui Liao et al.   ENDOCRINOLOGY

Thyroid Hormone Receptor α and Regulation of Type 3 Deiodinase

(2011) Olga Barca-Mayo et al.   MOLECULAR ENDOCRINOLOGY

A Mutation in the Thyroid Hormone Receptor Alpha Gene

(2011) Elena Bochukova et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular Aspects of Thyroid Hormone Actions

(2010) Sheue-Yann Cheng et al.   ENDOCRINE REVIEWS

Impact of Monocarboxylate Transporter-8 Deficiency on the Hypothalamus-Pituitary-Thyroid Axis in Mice

(2010) Marija Trajkovic-Arsic et al.   ENDOCRINOLOGY

Approach to the Patient with Resistance to Thyroid Hormone and Pregnancy

(2010) Roy E. Weiss et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

(2010) Erik Schoenmakers et al.   JOURNAL OF CLINICAL INVESTIGATION

Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

(2010) Caterina Di Cosmo et al.   JOURNAL OF CLINICAL INVESTIGATION

Resistance to thyroid hormone is associated with raised energy expenditure, muscle mitochondrial uncoupling, and hyperphagia

(2010) Catherine S. Mitchell et al.   JOURNAL OF CLINICAL INVESTIGATION

Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns

(2010) W. Edward Visser et al.   MOLECULAR ENDOCRINOLOGY

Familial Dysalbuminemic Hyperthyroxinemia: A Persistent Diagnostic Challenge

(2009) D. Cartwright et al.   CLINICAL CHEMISTRY

A Thyroid Hormone Analog with Reduced Dependence on the Monocarboxylate Transporter 8 for Tissue Transport

(2009) Caterina Di Cosmo et al.   ENDOCRINOLOGY

Consequences of Monocarboxylate Transporter 8 Deficiency for Renal Transport and Metabolism of Thyroid Hormones in Mice

(2009) Marija Trajkovic-Arsic et al.   ENDOCRINOLOGY

Clinical and Molecular Characterization of a Novel Selenocysteine Insertion Sequence-Binding Protein 2 (SBP2) Gene Mutation (R128X)

(2009) Caterina Di Cosmo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Selenium Supplementation Fails to Correct the Selenoprotein Synthesis Defect in Subjects with SBP2 Gene Mutations

(2009) Lutz Schomburg et al.   THYROID

Severe psychomotor and metabolic damages caused by a mutant thyroid hormone receptor alpha 1 in mice: can patients with a similar mutation be found and treated?

(2008) Björn Vennström et al.   ACTA PAEDIATRICA

Cellular and Molecular Basis of Deiodinase-Regulated Thyroid Hormone Signaling1

(2008) Balázs Gereben et al.   ENDOCRINE REVIEWS

Expression of the Thyroid Hormone Transporters Monocarboxylate Transporter-8 (SLC16A2) and Organic Ion Transporter-14 (SLCO1C1) at the Blood-Brain Barrier

(2008) Lori M. Roberts et al.   ENDOCRINOLOGY

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

(2008) W. Edward Visser et al.   HUMAN MUTATION

Beneficial Effects of Propylthiouracil plusl-Thyroxine Treatment in a Patient with a Mutation inMCT8

(2008) J. L. Wémeau et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The skeletal phenotypes of TRα and TRβ mutant mice

(2008) J H Duncan Bassett et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Locomotor Deficiencies and Aberrant Development of Subtype-Specific GABAergic Interneurons Caused by an Unliganded Thyroid Hormone Receptor  1

(2008) K. Wallis et al.   JOURNAL OF NEUROSCIENCE

Multigenic control of thyroid hormone functions in the nervous system

(2008) Jacques Nunez et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Effective Cellular Uptake and Efflux of Thyroid Hormone by Human Monocarboxylate Transporter 10

(2008) Edith C. H. Friesema et al.   MOLECULAR ENDOCRINOLOGY

Thyroid hormone transport in and out of cells

(2008) W. Edward Visser et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM