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Weiss, Roy Emanuel
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Weiss, Roy Emanuel
Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters.
A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
Changes in thyroid status during perinatal development of MCT8-deficient male mice.
Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.
Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels.
The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.
Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice.
An Essential Physiological Role for MCT8 in Bone in Male Mice.
A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism.
Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
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.