Refetoff, Samuel

A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene

Dumitrescu, A. M., Liao, X.-H., Best, T. B., Brockmann, K., & Refetoff, S. (2004) · The American Journal of Human Genetics

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 706

Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone12

REFETOFF, S., DEWIND, L. T., & DEGROOT, L. J. (1967) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 568

Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep

Van Cauter, E., Blackman, J. D., Roland, D., Spire, J. P., Refetoff, S., & Polonsky, K. S. (1991) · Journal of Clinical Investigation

Circadian rhythm and melatoninPancreatic function and diabetes

Cited by 448

Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation

Knauf, J. A., Ma, X., Smith, E. P., Zhang, L., Mitsutake, N., Liao, X.-H., Refetoff, S., Nikiforov, Y. E., & Fagin, J. A. (2005) · Cancer Research

Thyroid Cancer Diagnosis and TreatmentThyroid and Parathyroid Surgery

Cited by 414

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism

Dumitrescu, A. M., Liao, X.-H., Abdullah, M. S. Y., Lado-Abeal, J., Majed, F. A., Moeller, L. C., Boran, G., Schomburg, L., Weiss, R. E., & Refetoff, S. (2005) · Nature Genetics

Selenium in Biological SystemsThyroid Disorders and Treatments

Cited by 412

Generation of functional thyroid from embryonic stem cells

Antonica, F., Kasprzyk, D. F., Opitz, R., Iacovino, M., Liao, X.-H., Dumitrescu, A. M., Refetoff, S., Peremans, K., Manto, M., Kyba, M., et al. (2012) · Nature

Pluripotent Stem Cells ResearchThyroid Disorders and Treatments

Cited by 359

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

Dumitrescu, A. M., Liao, X.-H., Weiss, R. E., Millen, K., & Refetoff, S. (2006) · Endocrinology

Thyroid Disorders and TreatmentsDrug Transport and Resistance Mechanisms

Cited by 318

Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

Sakurai, A., Takeda, K., Ain, K., Ceccarelli, P., Nakai, A., Seino, S., Bell, G. I., Refetoff, S., & DeGroot, L. J. (1989) · Proceedings of the National Academy of Sciences

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 268

The syndromes of reduced sensitivity to thyroid hormone

Dumitrescu, A. M., & Refetoff, S. (2013) · Biochimica et Biophysica Acta (BBA) - General Subjects

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 253

Interconnection between circadian clocks and thyroid function

Ikegami, K., Refetoff, S., Van Cauter, E., & Yoshimura, T. (2019) · Nature Reviews Endocrinology

Circadian rhythm and melatoninThyroid Disorders and Treatments

Cited by 251

Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier

Vatine, G. D., Al-Ahmad, A., Barriga, B. K., Svendsen, S., Salim, A., Garcia, L., Garcia, V. J., Ho, R., Yucer, N., Qian, T., et al. (2017) · Cell Stem Cell

Barrier Structure and Function StudiesPluripotent Stem Cells Research

Cited by 233

American Thyroid Association Guide to Investigating Thyroid Hormone Economy and Action in Rodent and Cell Models: Report of the American Thyroid Association Task Force on Approaches and Strategies to Investigate Thyroid Hormone Economy and Action

Bianco, A. C., Anderson, G., Forrest, D., Galton, V. A., Gereben, B., Kim, B. W., Kopp, P. A., Liao, X. H., Obregon, M. J., Peeters, R. P., et al. (2014) · Thyroid

Thyroid Disorders and TreatmentsThyroid Cancer Diagnosis and Treatment

Cited by 205

Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3′-triiodo-L-thyronine

Ceballos, A., Belinchon, M. M., Sanchez-Mendoza, E., Grijota-Martinez, C., Dumitrescu, A. M., Refetoff, S., Morte, B., & Bernal, J. (2009) · Endocrinology

Thyroid Disorders and TreatmentsBarrier Structure and Function Studies

Cited by 173

Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature

Flamant, F., Cheng, S.-Y., Hollenberg, A. N., Moeller, L. C., Samarut, J., Wondisford, F. E., Yen, P. M., & Refetoff, S. (2017) · Endocrinology

Thyroid Disorders and TreatmentsEstrogen and related hormone effects

Cited by 165

Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination

López-Espíndola, D., Morales-Bastos, C., Grijota-Martínez, C., Liao, X.-H., Lev, D., Sugo, E., Verge, C. F., Refetoff, S., Bernal, J., & Guadaño-Ferraz, A. (2014) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenetics and Neurodevelopmental Disorders

Cited by 155

Inherited defects of thyroxine-binding proteins

Pappa, T., Ferrara, A. M., & Refetoff, S. (2015) · Best Practice & Research Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsProtein Interaction Studies and Fluorescence Analysis

Cited by 139

Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency

Verge, C. F., Konrad, D., Cohen, M., Di Cosmo, C., Dumitrescu, A. M., Marcinkowski, T., Hameed, S., Hamilton, J., Weiss, R. E., & Refetoff, S. (2012) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 134

Resistance to thyroid hormone beta: a focused review

Pappa, T., & Refetoff, S. (2021) · Frontiers in Endocrinology

Thyroid Disorders and TreatmentsThyroid Cancer Diagnosis and Treatment

Cited by 119

Effects of “Jet Lag” on Hormonal Patterns. I. Procedures, Variations in Total Plasma Proteins, and Disruption of Adrenocorticotropin-Cortisol Periodicity*

DÉSIR, D., VAN CAUTER, E., FANG, V. S., MARTINO, E., JADOT, C., SPIRE, J.-P., NOEL, P., REFETOFF, S., COPINSCHI, G., & GOLSTEIN, J. (1981) · The Journal of Clinical Endocrinology & Metabolism

Stress Responses and CortisolCircadian rhythm and melatonin

Cited by 112

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

Ferrara, A. M., Onigata, K., Ercan, O., Woodhead, H., Weiss, R. E., & Refetoff, S. (2012) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 110

Multifactorial control of the 24-hour secretory profiles of pituitary hormones

Van Cauter, E., & Refetoff, S. (1985) · Journal of Endocrinological Investigation

Circadian rhythm and melatoninHypothalamic control of reproductive hormones

Cited by 104

Tissue-specific posttranslational modification allows functional targeting of thyrotropin

Ikegami, K., Liao, X.-H., Hoshino, Y., Ono, H., Ota, W., Ito, Y., Nishiwaki-Ohkawa, T., Sato, C., Kitajima, K., Iigo, M., et al. (2014) · Cell Reports

Glycosylation and Glycoproteins ResearchThyroid Disorders and Treatments

Cited by 102

Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis

Nikrodhanond, A. A., Ortiga-Carvalho, T. M., Shibusawa, N., Hashimoto, K., Liao, X. H., Refetoff, S., Yamada, M., Mori, M., & Wondisford, F. E. (2006) · Journal of Biological Chemistry

Thyroid Disorders and TreatmentsGrowth Hormone and Insulin-like Growth Factors

Cited by 100

Effects of “Jet Lag ” on Hormonal Patterns. II. Adaptation of Melatonin Circadian Periodicity*

MONTANGE, M. F., CAUTER, E. V., REFETOFF, S., DÉSIR, D., TOURNIAIRE, J., & COPINSCHI, G. (1981) · The Journal of Clinical Endocrinology & Metabolism

Circadian rhythm and melatoninSleep and Work-Related Fatigue

Cited by 83