Samuel Refetoff

The pathogenic role of anti-thyroglobulin antibody on pregnancy: evidence from an active immunization model in mice (2003)

Matalon, Shelly Tartakover, Blank, Miri, Levy, Yair, Carp, Howard J.A., Arad, Ayala, Burek, Lynne, ...

BACKGROUND: The presence of antibodies to thyroglobulin (Tg) is associated with fetal loss even in the absence of thyroid dysfunction. The aim of this study was to examine whether active immunization...

Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor a Locus (2001)

Samarut, Jacques, Gauthier, Karine, Plateroti, Michelina, B. Harvey, Clare, R. Williams, Graham, E. Weiss, Roy, ...

Thyroid hormone receptors are encoded by the TRa (NR1A1) and TRb (NR1A2) loci. These genes are transcribed into multiple variants whose functions are unclear. Analysis by gene inactivation in mice...

Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor a Locus (2001)

Samarut, Jacques, Gauthier, Karine, Plateroti, Michelina, B. Harvey, Clare, R. Williams, Graham, E. Weiss, Roy, ...

Thyroid hormone receptors are encoded by the TRa (NR1A1) and TRb (NR1A2) loci. These genes are transcribed into multiple variants whose functions are unclear. Analysis by gene inactivation in mice...

Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor a Locus (2001)

Samarut, Jacques, Gauthier, Karine, Plateroti, Michelina, B. Harvey, Clare, R. Williams, Graham, E. Weiss, Roy, ...

Thyroid hormone receptors are encoded by the TRa (NR1A1) and TRb (NR1A2) loci. These genes are transcribed into multiple variants whose functions are unclear. Analysis by gene inactivation in mice...

Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor a Locus (2001)

Samarut, Jacques, Gauthier, Karine, Plateroti, Michelina, B. Harvey, Clare, R. Williams, Graham, E. Weiss, Roy, ...

Thyroid hormone receptors are encoded by the TRa (NR1A1) and TRb (NR1A2) loci. These genes are transcribed into multiple variants whose functions are unclear. Analysis by gene inactivation in mice...

Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor α

Macchia, Paolo E., Takeuchi, Yoko, Kawai, Tomoko, Cua, Kevin, Gauthier, Karine, Chassande, Olivier, ...

Only three of the four thyroid hormone receptor (TR) isoforms, α1, β1, and β2, bind thyroid hormone (TH) and are considered to be true TRs. TRα2 binds to TH response elements on DNA, but its role...

Torpor in mice is induced by both leptin-dependent and -independent mechanisms

Gavrilova, Oksana, Leon, Lisa R., Marcus-Samuels, Bernice, Mason, Mark M., Castle, Arthur L., Refetoff, Samuel, ...

We tested the effect of chronic leptin treatment on fasting-induced torpor in leptin-deficient A-ZIP/F-1 and ob/ob mice. A-ZIP/F-1 mice have virtually no white adipose tissue and low leptin levels,...

Mice with a targeted mutation in the thyroid hormone β receptor gene exhibit impaired growth and resistance to thyroid hormone

Kaneshige, Masahiro, Kaneshige, Kumiko, Zhu, Xu-guang, Dace, Alexandra, Garrett, Lisa, Carter, Todd A., ...

Patients with mutations in the thyroid hormone receptor β (TRβ) gene manifest resistance to thyroid hormone (RTH), resulting in a constellation of variable phenotypic abnormalities. To understand...

Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor α Locus

Gauthier, Karine, Plateroti, Michelina, Harvey, Clare B., Williams, Graham R., Weiss, Roy E., Refetoff, Samuel, ...

Thyroid hormone receptors are encoded by the TRα (NR1A1) and TRβ (NR1A2) loci. These genes are transcribed into multiple variants whose functions are unclear. Analysis by gene inactivation in mice...

Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

Pohlenz, Joachim, Dumitrescu, Alexandra, Zundel, Dorothee, Martiné, Ursula, Schönberger, Winfried, Koo, Eugene, ...

Three genes, TTF1, TTF2, and PAX8, involved in thyroid gland development and migration have been identified. Yet systematic screening for defects in these genes in thyroid dysgenesis gave essentially...

Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo

Shibusawa, Nobuyuki, Hashimoto, Koshi, Nikrodhanond, Amisra A., Liberman, M. Charles, Applebury, Meredithe L., Liao, Xiao Hui, ...

Thyroid hormone action is mediated by thyroid hormone receptors (TRs), which are members of the nuclear hormone receptor superfamily. DNA-binding is presumed to be essential for all nuclear actions...

GENETIC POLYMORPHISM OF RHESUS THYROXINE-BINDING PREALBUMIN: EVIDENCE FOR TETRAMERIC STRUCTURE IN PRIMATES*

Alper, Chester A., Robin, Noel I., Refetoff, Samuel

Polymorphism in primate thyroxine-binding prealbumin was investigated with agarose gel electrophoresis at pH 8.6. In the rhesus monkey (Macaca mulatta), three forms of this protein were found in...

Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: A control mechanism for thyroid hormone release

Lisi, Simonetta, Pinchera, Aldo, McCluskey, Robert T., Willnow, Thomas E., Refetoff, Samuel, Marcocci, Claudio, ...

Hormone secretion by thyrocytes occurs by fluid phase uptake and lysosomal degradation of the prohormone thyroglobulin (Tg). However, some Tg internalized by megalin bypasses lysosomes and is...

Study of Four New Kindreds with Inherited Thyroxine-Binding Globulin Abnormalities POSSIBLE MUTATIONS OF A SINGLE GENE LOCUS

Refetoff, Samuel, Robin, Noel I., Alper, Chester A.

Five families with inherited thyroxine-binding globulin (TBG) abnormalities were studied. On the basis of serum thyroxine (T4)- binding capacity of TBG in affected males, three family types were...

Regulation of Glycosaminoglycan Synthesis by Thyroid Hormone in Vitro

Smith, Terry J., Murata, Yoshiharu, Horwitz, Allen L., Philipson, Louis, Refetoff, Samuel

Human skin fibroblasts synthesize and accumulate glycosaminoglycans (GAG). Recently, we reported that fibroblasts incubated in thyroid hormone-deficient media accumulate more GAG than do cultures...

Growth Hormone Responses to Thyroid Hormone in the Neonatal Rat: RESISTANCE AND ANAMNESTIC RESPONSE

Seo, Hisao, Wunderlich, Caryn, Vassart, Gilbert, Refetoff, Samuel

Differences in the growth hormone (GH) responses to primary and to secondary stimulation with triiodothyronine (T3) were studied in rats deprived of thyroid hormone from birth. Neonatal...

Thyroid Function in a Uremic Rat Model: EVIDENCE SUGGESTING TISSUE HYPOTHYROIDISM

Lim, Victoria S., Henriquez, Carlos, Seo, Hisao, Refetoff, Samuel, Martino, Enio

The main objective of this study was to determine whether the principal abnormality of thyroid function observed in patients with chronic renal failure, low serum triiodothyronine (T3) concentration,...

Thyroid Dysfunction in Chronic Renal Failure: A STUDY OF THE PITUITARY-THYROID AXIS AND PERIPHERAL TURNOVER KINETICS OF THYROXINE AND TRIIODOTHYRONINE

Lim, Victoria Sy, Fang, Victor S., Katz, Adrian I., Refetoff, Samuel

Thyroid function was evaluated in 46 patients with end-stage kidney disease and 42 normal subjects. Patients were studied before and after the institution of maintenance hemodialysis (HD) and after...

Genetic immunization of outbred mice with thyrotropin receptor cDNA provides a model of Graves’ disease

Costagliola, Sabine, Many, Marie-Christine, Denef, Jean-François, Pohlenz, Joachim, Refetoff, Samuel, Vassart, Gilbert

We performed genetic immunization of outbred NMRI mice, using a cDNA encoding the human thyrotropin receptor (TSHr). All mice produced antibodies capable of recognizing the recombinant receptor...

Comparison of primary and secondary stimulation of male rats by estradiol in terms of prolactin synthesis and mRNA accumulation in the pituitary

Seo, Hisao, Refetoff, Samuel, Vassart, Gilbert, Brocas, Huguette

Male rats received acute or chronic primary or acute secondary stimulation with estradiol, and the effects on pituitary prolactin synthesis and its mRNA accumulation were examined. Prolactin...

Nuclear Triiodothyronine-Binding Protein: Partial Characterization and Binding to Chromatin*

Degroot, Leslie J., Refetoff, Samuel, Strausser, John, Barsano, Charles

Nuclei were prepared by sucrose sedimentation of liver homogenates from rats given 125I-labeled triiodothyronine in vivo. The nuclear extract obtained by treatment of the nuclear pellet with 0.4 M...

Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface

Ortiga-Carvalho, Tania M., Shibusawa, Nobuyuki, Nikrodhanond, Amisra, Oliveira, Karen J., Machado, Danielle S., Liao, Xiao-Hui, ...

Thyroid hormone (TH) action is mediated by TH receptors (TRs), which are members of the nuclear hormone receptor superfamily. In vitro studies have demonstrated that TR activity is regulated by...

Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice

Yen, Paul M., Feng, Xu, Flamant, Frederic, Chen, Yidong, Walker, Robert L., Weiss, Roy E., ...

Little is known about the overall patterns of thyroid hormone (Th)-mediated gene regulation by the main Th receptor (Tr) isoforms, Tr-α and Tr-β, in vivo. We used 48 complementary DNA microarrays...

Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor β through the phosphatidylinositol 3-kinase pathway

Moeller, Lars C., Cao, Xia, Dumitrescu, Alexandra M., Seo, Hisao, Refetoff, Samuel

Thyroid hormone (TH) action is mediated principally through binding of the hormone ligand, 3,3,5-triiodothyronine (T3), to TH receptors (TRs). This hormone-receptor interaction recruits other...

Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor α

Macchia, Paolo E., Takeuchi, Yoko, Kawai, Tomoko, Cua, Kevin, Gauthier, Karine, Chassande, Olivier, ...

Only three of the four thyroid hormone receptor (TR) isoforms, α1, β1, and β2, bind thyroid hormone (TH) and are considered to be true TRs. TRα2 binds to TH response elements on DNA, but its role...

Torpor in mice is induced by both leptin-dependent and -independent mechanisms

Gavrilova, Oksana, Leon, Lisa R., Marcus-Samuels, Bernice, Mason, Mark M., Castle, Arthur L., Refetoff, Samuel, ...

We tested the effect of chronic leptin treatment on fasting-induced torpor in leptin-deficient A-ZIP/F-1 and ob/ob mice. A-ZIP/F-1 mice have virtually no white adipose tissue and low leptin levels,...

Mice with a targeted mutation in the thyroid hormone β receptor gene exhibit impaired growth and resistance to thyroid hormone

Kaneshige, Masahiro, Kaneshige, Kumiko, Zhu, Xu-guang, Dace, Alexandra, Garrett, Lisa, Carter, Todd A., ...

Patients with mutations in the thyroid hormone receptor β (TRβ) gene manifest resistance to thyroid hormone (RTH), resulting in a constellation of variable phenotypic abnormalities. To understand...

Genetic Analysis Reveals Different Functions for the Products of the Thyroid Hormone Receptor α Locus

Gauthier, Karine, Plateroti, Michelina, Harvey, Clare B., Williams, Graham R., Weiss, Roy E., Refetoff, Samuel, ...

Thyroid hormone receptors are encoded by the TRα (NR1A1) and TRβ (NR1A2) loci. These genes are transcribed into multiple variants whose functions are unclear. Analysis by gene inactivation in mice...

Partial deficiency of Thyroid transcription factor 1 produces predominantly neurological defects in humans and mice

Pohlenz, Joachim, Dumitrescu, Alexandra, Zundel, Dorothee, Martiné, Ursula, Schönberger, Winfried, Koo, Eugene, ...

Three genes, TTF1, TTF2, and PAX8, involved in thyroid gland development and migration have been identified. Yet systematic screening for defects in these genes in thyroid dysgenesis gave essentially...

Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo

Shibusawa, Nobuyuki, Hashimoto, Koshi, Nikrodhanond, Amisra A., Liberman, M. Charles, Applebury, Meredithe L., Liao, Xiao Hui, ...

Thyroid hormone action is mediated by thyroid hormone receptors (TRs), which are members of the nuclear hormone receptor superfamily. DNA-binding is presumed to be essential for all nuclear actions...

GENETIC POLYMORPHISM OF RHESUS THYROXINE-BINDING PREALBUMIN: EVIDENCE FOR TETRAMERIC STRUCTURE IN PRIMATES*

Alper, Chester A., Robin, Noel I., Refetoff, Samuel

Polymorphism in primate thyroxine-binding prealbumin was investigated with agarose gel electrophoresis at pH 8.6. In the rhesus monkey (Macaca mulatta), three forms of this protein were found in...

Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: A control mechanism for thyroid hormone release

Lisi, Simonetta, Pinchera, Aldo, McCluskey, Robert T., Willnow, Thomas E., Refetoff, Samuel, Marcocci, Claudio, ...

Hormone secretion by thyrocytes occurs by fluid phase uptake and lysosomal degradation of the prohormone thyroglobulin (Tg). However, some Tg internalized by megalin bypasses lysosomes and is...

Study of Four New Kindreds with Inherited Thyroxine-Binding Globulin Abnormalities POSSIBLE MUTATIONS OF A SINGLE GENE LOCUS

Refetoff, Samuel, Robin, Noel I., Alper, Chester A.

Five families with inherited thyroxine-binding globulin (TBG) abnormalities were studied. On the basis of serum thyroxine (T4)- binding capacity of TBG in affected males, three family types were...

Regulation of Glycosaminoglycan Synthesis by Thyroid Hormone in Vitro

Smith, Terry J., Murata, Yoshiharu, Horwitz, Allen L., Philipson, Louis, Refetoff, Samuel

Human skin fibroblasts synthesize and accumulate glycosaminoglycans (GAG). Recently, we reported that fibroblasts incubated in thyroid hormone-deficient media accumulate more GAG than do cultures...

Growth Hormone Responses to Thyroid Hormone in the Neonatal Rat: RESISTANCE AND ANAMNESTIC RESPONSE

Seo, Hisao, Wunderlich, Caryn, Vassart, Gilbert, Refetoff, Samuel

Differences in the growth hormone (GH) responses to primary and to secondary stimulation with triiodothyronine (T3) were studied in rats deprived of thyroid hormone from birth. Neonatal...

Thyroid Function in a Uremic Rat Model: EVIDENCE SUGGESTING TISSUE HYPOTHYROIDISM

Lim, Victoria S., Henriquez, Carlos, Seo, Hisao, Refetoff, Samuel, Martino, Enio

The main objective of this study was to determine whether the principal abnormality of thyroid function observed in patients with chronic renal failure, low serum triiodothyronine (T3) concentration,...

Thyroid Dysfunction in Chronic Renal Failure: A STUDY OF THE PITUITARY-THYROID AXIS AND PERIPHERAL TURNOVER KINETICS OF THYROXINE AND TRIIODOTHYRONINE

Lim, Victoria Sy, Fang, Victor S., Katz, Adrian I., Refetoff, Samuel

Thyroid function was evaluated in 46 patients with end-stage kidney disease and 42 normal subjects. Patients were studied before and after the institution of maintenance hemodialysis (HD) and after...

Genetic immunization of outbred mice with thyrotropin receptor cDNA provides a model of Graves’ disease

Costagliola, Sabine, Many, Marie-Christine, Denef, Jean-François, Pohlenz, Joachim, Refetoff, Samuel, Vassart, Gilbert

We performed genetic immunization of outbred NMRI mice, using a cDNA encoding the human thyrotropin receptor (TSHr). All mice produced antibodies capable of recognizing the recombinant receptor...

Comparison of primary and secondary stimulation of male rats by estradiol in terms of prolactin synthesis and mRNA accumulation in the pituitary

Seo, Hisao, Refetoff, Samuel, Vassart, Gilbert, Brocas, Huguette

Male rats received acute or chronic primary or acute secondary stimulation with estradiol, and the effects on pituitary prolactin synthesis and its mRNA accumulation were examined. Prolactin...

Nuclear Triiodothyronine-Binding Protein: Partial Characterization and Binding to Chromatin*

Degroot, Leslie J., Refetoff, Samuel, Strausser, John, Barsano, Charles

Nuclei were prepared by sucrose sedimentation of liver homogenates from rats given 125I-labeled triiodothyronine in vivo. The nuclear extract obtained by treatment of the nuclear pellet with 0.4 M...

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

Dumitrescu, Alexandra M., Liao, Xiao-Hui, Best, Thomas B., Brockmann, Knut, Refetoff, Samuel

Thyroid hormones are iodothyronines that control growth and development, as well as brain function and metabolism. Although thyroid hormone deficiency can be caused by defects of hormone synthesis...

Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface

Ortiga-Carvalho, Tania M., Shibusawa, Nobuyuki, Nikrodhanond, Amisra, Oliveira, Karen J., Machado, Danielle S., Liao, Xiao-Hui, ...

Thyroid hormone (TH) action is mediated by TH receptors (TRs), which are members of the nuclear hormone receptor superfamily. In vitro studies have demonstrated that TR activity is regulated by...

Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice

Yen, Paul M., Feng, Xu, Flamant, Frederic, Chen, Yidong, Walker, Robert L., Weiss, Roy E., ...

Little is known about the overall patterns of thyroid hormone (Th)-mediated gene regulation by the main Th receptor (Tr) isoforms, Tr-α and Tr-β, in vivo. We used 48 complementary DNA microarrays...

Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor β through the phosphatidylinositol 3-kinase pathway

Moeller, Lars C., Cao, Xia, Dumitrescu, Alexandra M., Seo, Hisao, Refetoff, Samuel

Thyroid hormone (TH) action is mediated principally through binding of the hormone ligand, 3,3,5-triiodothyronine (T3), to TH receptors (TRs). This hormone-receptor interaction recruits other...

Pendred Syndrome in Two Galician Families: Insights into Clinical Phenotypes through Cellular, Genetic, and Molecular Studies

Palos, Fernando, Araujo-Vilar, David, Obregon, Maria Jesús, Calvo, Rosa Maria, Cameselle-Teijeiro, Jose, ...

Context: We studied two families from Galicia (northwest Spain) with Pendred syndrome (PS) and unusual thyroid phenotypes. In family A, the proposita had a large goiter and hypothyroxinemia but...

A Lack of Thyroid Hormones Rather than Excess Thyrotropin Causes Abnormal Skeletal Development in Hypothyroidism

Bassett, J. H. Duncan, Williams, Allan J., Murphy, Elaine, Boyde, Alan, Howell, Peter G. T., Swinhoe, Rowan, ...

By proposing TSH as a key negative regulator of bone turnover, recent studies in TSH receptor (TSHR) null mice challenged the established view that skeletal responses to disruption of the...

Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism

Zamproni, Ilaria, Grasberger, Helmut, Cortinovis, Francesca, Vigone, Maria Cristina, Chiumello, Giuseppe, Mora, Stefano, ...

Context: Dual oxidase 2 (DUOX2) is the catalytic core of the H2O2 generator crucial for the iodination of thyroglobulin in thyroid hormone synthesis. DUOX2 deficiency produces congenital...