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1. Full Text Manifestazioni cliniche delle mutazioni del trasportatore degli ormoni tiroidei MCT8
: Proposto da Aldo Pinchera
by Di Cosmo, Caterina
L’Endocrinologo, ISSN 1590-170X, 4/2013, Volume 14, Issue 2, pp. 57 - 63
Itrasportatori di membrana degli ormoni tiroidei (OT) sono essenziali per l’azione e il metabolismo degli OT. L’importanza clinica dei trasportatori è emersa... 
Internal Medicine | Medicine & Public Health | Medicine/Public Health, general | Endocrinology | Metabolic Diseases
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2. Full Text Infezioni cutanee e mucose multiple in donna con agranulocitosi indotta da metimazolo
by di Cosmo, Caterina and Rago, Teresa and Marinò, Michele and Vignali, Edda
L’Endocrinologo, ISSN 1590-170X, 6/2003, Volume 4, Issue 2, pp. 93 - 93
Internal Medicine | Medicine & Public Health | Medicine/Public Health, general | Endocrinology | Metabolic Diseases
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3. Full Text Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion
by Di Cosmo, Caterina and Liao, Xiao-Hui and Dumitrescu, Alexandra M and Philp, Nancy J and Weiss, Roy E and Refetoff, Samuel
Journal of Clinical Investigation, ISSN 0021-9738, 09/2010, Volume 120, Issue 9, pp. 3377 - 3388
The mechanism of thyroid hormone (TH) secretion from the thyroid gland into blood is unknown. Humans and mice deficient in monocarboxylate transporter 8 (MCT8)... 
MEDICINE, RESEARCH & EXPERIMENTAL | IODINE DEFICIENCY | GENE | METABOLISM | THYROTROPIN RECEPTOR | TISSUE | TRANSCRIPTION | PSYCHOMOTOR RETARDATION | MONOCARBOXYLATE TRANSPORTER-8 | STIMULATING HORMONE | EXPRESSION | Thyroglobulin - metabolism | Mice, Inbred C57BL | Thyroxine - blood | Male | Hormones | Membrane Transport Proteins - physiology | Mice, Knockout | Triiodothyronine - blood | Membrane Transport Proteins - deficiency | Animals | Triiodothyronine - metabolism | Biological Transport | Thyroid Hormones - metabolism | Thyrotropin - pharmacology | Thyroxine - metabolism | Female | Heterozygote | Mice | Thyroid Gland - metabolism | Crosses, Genetic | Physiological aspects | Thyroid gland | Genetic aspects | Gene expression | Secretion
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4. The way forward in Italy for iodine
by Olivieri, Antonella and DI Cosmo, Caterina and DE Angelis, Simona and DA Cas, Roberto and Stacchini, Paolo and Pastorelli, Augusto and Vitti, Paolo and Regional Observatories for Goiter Prevention
Minerva medica, 04/2017, Volume 108, Issue 2, p. 159
Italy is dealing with iodine deficiency since ancient times. In 1848 an ad hoc committee appointed by the king of Sardinia, identified extensive areas... 
Humans | Iodine - deficiency | Sodium Chloride, Dietary - administration & dosage | Goiter, Endemic - prevention & control | Congenital Hypothyroidism - prevention & control | Sodium Chloride, Dietary - supply & distribution | Goiter, Endemic - epidemiology | Program Development | Iodine - administration & dosage | Italy - epidemiology | Trace Elements - administration & dosage | Congenital Hypothyroidism - epidemiology | Iodine - supply & distribution | Trace Elements - deficiency
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5. Full Text Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency
by Verge, Charles F and Konrad, Daniel and Cohen, Michal and Di Cosmo, Caterina and Dumitrescu, Alexandra M and Marcinkowski, Teresa and Hameed, Shihab and Hamilton, Jill and Weiss, Roy E and Refetoff, Samuel
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2012, Volume 97, Issue 12, pp. 4515 - 4523
Context: Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation... 
HERNDON-DUDLEY-SYNDROME | 3,5-DIIODOTHYROPROPIONIC ACID | GENE | METABOLISM | HEART-FAILURE | ENDOCRINOLOGY & METABOLISM | THYROID-HORMONE ANALOG | MICE | MUTATIONS | T-3 | MONOCARBOXYLATE TRANSPORTER 8 | Thyroid Function Tests | Compassionate Use Trials | Monocarboxylic Acid Transporters - deficiency | Humans | Child, Preschool | Mental Retardation, X-Linked - physiopathology | Infant | Male | Brain - growth & development | Mental Retardation, X-Linked - drug therapy | Psychomotor Performance - physiology | Cardiotonic Agents - therapeutic use | Muscle Hypotonia - blood | Multicenter Studies as Topic | Muscular Atrophy - physiopathology | Child Development - drug effects | Diiodothyronines - therapeutic use | Mental Retardation, X-Linked - blood | Muscular Atrophy - blood | Propionates - therapeutic use | Diseases in Twins - drug therapy | Psychomotor Performance - drug effects | Muscular Atrophy - drug therapy | Brain - drug effects | Diseases in Twins - physiopathology | Muscle Hypotonia - drug therapy | Muscle Hypotonia - physiopathology | Diseases in Twins - blood | 100 | 500 | Endocrine Care
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6. The different requirement of L-T4therapy in congenital athyreosis compared with adult-acquired hypothyroidism suggests a persisting thyroid hormone resistance at the hypothalamic-pituitary level
by Bagattini, Brunella and Di Cosmo, Caterina and Montanelli, Lucia and Piaggi, Paolo and Ciampi, Mariella and Agretti, Patrizia and De Marco, Giuseppina and Vitti, Paolo and Tonacchera, Massimo
European Journal of Endocrinology, ISSN 0804-4643, 11/2014, Volume 171, Issue 5, pp. 615 - 621
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7. Full Text A Thyroid Hormone Analog with Reduced Dependence on the Monocarboxylate Transporter 8 for Tissue Transport
by Di Cosmo, Caterina and Liao, Xiao-Hui and Dumitrescu, Alexandra M and Weiss, Roy E and Refetoff, Samuel
Endocrinology, ISSN 0013-7227, 09/2009, Volume 150, Issue 9, pp. 4450 - 4458
Mutations of the thyroid hormone (TH) cell membrane transporter MCT8, on chromosome-X, produce severe mental and neurological impairment in men. We generated a... 
HERNDON-DUDLEY-SYNDROME | 3,5-DIIODOTHYROPROPIONIC ACID | METABOLISM | BETA-DEFICIENT MICE | MUTATION | ENDOCRINOLOGY & METABOLISM | MCT8 GENE | SENSITIVITY | PATIENT | STEROID-RECEPTOR COACTIVATOR-1 | CLINICAL PHENOTYPE | Propionates - pharmacology | Propionates - metabolism | Diiodothyronines - metabolism | Male | Mice, Knockout | Brain - drug effects | Animals | Receptors, Thyroid Hormone - agonists | Liver - drug effects | Membrane Transport Proteins - genetics | Thyroxine - metabolism | Iodide Peroxidase - metabolism | Diiodothyronines - pharmacology | Membrane Transport Proteins - metabolism | Mice | Thyroxine - pharmacology | Thyrotropin - blood
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8. Full Text Thyroid Hormone-Regulated Mouse Cerebral Cortex Genes Are Differentially Dependent on the Source of the Hormone: A Study in Monocarboxylate Transporter-8- and Deiodinase-2-Deficient Mice
by Morte, Beatriz and Ceballos, Ainhoa and Diez, Diego and Grijota-Martínez, Carmen and Dumitrescu, Alexandra M and Di Cosmo, Caterina and Galton, Valerie Anne and Refetoff, Samuel and Bernal, Juan
Endocrinology, ISSN 0013-7227, 05/2010, Volume 151, Issue 5, pp. 2381 - 2387
Thyroid hormones influence brain development through the control of gene expression. The concentration of the active hormone T3 in the brain depends on T3... 
TYPE-2 IODOTHYRONINE DEIODINASE | METABOLISM | DEFICIENT | ENDOCRINOLOGY & METABOLISM | PHENOTYPE | RECEPTOR | RAT-BRAIN | MUTATIONS | BLOOD-BRAIN-BARRIER | EXPRESSION | MCT8 | Methimazole - administration & dosage | Oligonucleotide Array Sequence Analysis | Male | Gene Expression Profiling | Cerebral Cortex - metabolism | Membrane Transport Proteins - deficiency | Triiodothyronine - metabolism | Membrane Transport Proteins - genetics | Iodide Peroxidase - metabolism | Female | Membrane Transport Proteins - metabolism | Hypothyroidism - genetics | Iodide Peroxidase - deficiency | Animals, Newborn | Mice, Inbred C57BL | Gene Expression Regulation, Developmental - drug effects | Antithyroid Agents - administration & dosage | Reverse Transcriptase Polymerase Chain Reaction | Mice, Knockout | Pregnancy | Animals | Cerebral Cortex - embryology | Thyroid Hormones - metabolism | Thyroxine - metabolism | Cerebral Cortex - growth & development | Mice | Iodide Peroxidase - genetics
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9. Full Text Identification and Functional Analysis of Novel Dual Oxidase 2 (DUOX2) Mutations in Children with Congenital or Subclinical Hypothyroidism
by De Marco, Giuseppina and Agretti, Patrizia and Montanelli, Lucia and Di Cosmo, Caterina and Bagattini, Brunella and De Servi, Melissa and Ferrarini, Eleonora and Dimida, Antonio and Freitas Ferreira, Andrea Claudia and Molinaro, Angelo and Ceccarelli, Claudia and Brozzi, Federica and Pinchera, Aldo and Vitti, Paolo and Tonacchera, Massimo
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2011, Volume 96, Issue 8, pp. E1335 - E1339
Context: Congenital hypothyroidism (CH) associated with goiter or a gland of normal size has been linked to dual oxidase 2 (DUOX2) mutations in the presence of... 
NADPH OXIDASE | RECEPTOR TSHR | GENE | THOX2 | CLONING | ENDOCRINOLOGY & METABOLISM | MATURATION FACTOR | CDNAS | Severity of Illness Index | Oligonucleotide Array Sequence Analysis | Humans | Middle Aged | Child, Preschool | Male | Congenital Hypothyroidism - physiopathology | Point Mutation | Thyroid Gland - physiology | Gene Deletion | Congenital Hypothyroidism - genetics | NADPH Oxidases - genetics | Adult | Female | Aged | HeLa Cells | Dual Oxidases | Child
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10. Full Text A Combined Therapy with Myo-Inositol and D-Chiro-Inositol Improves Endocrine Parameters and Insulin Resistance in PCOS Young Overweight Women
by Benelli, Elena and Del Ghianda, Scilla and Di Cosmo, Caterina and Tonacchera, Massimo
International Journal of Endocrinology, ISSN 1687-8337, 2016, Volume 2016, pp. 3204083 - 5
Introduction. We evaluated the effects of a therapy that combines myo-inositol (MI) and D-chiro-inositol (DCI) in young overweight women affected by polycystic... 
POLYCYSTIC-OVARY-SYNDROME | RATIOS | INTERNATIONAL CONSENSUS CONFERENCE | METFORMIN | METABOLIC FACTORS | OBSTETRICS | ENDOCRINOLOGY & METABOLISM | DROSPIRENONE | HYPERINSULINEMIA | RISK | GYNECOLOGY | Prevention | Obesity | Complications and side effects | Inositol | Stein-Leventhal syndrome | Insulin resistance | Dosage and administration | Research | Drug therapy | Clinical Study
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11. Full Text Mct8-Deficient Mice Have Increased Energy Expenditure and Reduced Fat Mass That Is Abrogated by Normalization of Serum T3 Levels
by Di Cosmo, Caterina and Liao, Xiao-Hui and Ye, Honggang and Ferrara, Alfonso Massimiliano and Weiss, Roy E and Refetoff, Samuel and Dumitrescu, Alexandra M
Endocrinology, ISSN 0013-7227, 12/2013, Volume 154, Issue 12, pp. 4885 - 4895
Children with monocarboxylate transporter 8 (MCT8) deficiency lose weight, even when adequately nourished. Changes in serum markers of thyroid hormone (TH)... 
Body Composition | Adipose Tissue - physiology | Oxidation-Reduction | Adipose Tissue, Brown | Gene Expression Regulation - physiology | Mice, Knockout | Triiodothyronine - blood | Animals | Triiodothyronine - metabolism | Membrane Transport Proteins - genetics | Membrane Transport Proteins - metabolism | Mice | Cerebrum - physiology | Muscle, Skeletal | Energy Metabolism - genetics | Energy Metabolism - physiology | 500 | Thyroid-TRH-TSH | 300
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12. Full Text Papillary thyroid cancer in a patient with congenital goitrous hypothyroidism due to a novel deletion in NIS gene
by Agretti, Patrizia and Agretti, Patrizia and Bagattini, Brunella and Bagattini, Brunella and De Marco, Giuseppina and De Marco, Giuseppina and Di Cosmo, Caterina and Di Cosmo, Caterina and Dionigi, Gianlorenzo and Dionigi, Gianlorenzo and Vitti, Paolo and Vitti, Paolo and Tonacchera, Massimo and Tonacchera, Massimo
Endocrine, ISSN 1355-008X, 10/2016, Volume 54, Issue 1, pp. 256 - 258
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s12020-015-0790-8 
Internal Medicine | Diabetes | Medicine & Public Health | Science, Humanities and Social Sciences, multidisciplinary | Endocrinology | GOITER | IODIDE TRANSPORT | MECHANISM | ENDOCRINOLOGY & METABOLISM | Sequence Deletion | Carcinoma, Papillary - genetics | Goiter - pathology | Humans | Carcinoma, Papillary - pathology | Goiter - genetics | Biopsy, Fine-Needle | Thyroid Neoplasms - genetics | Symporters - genetics | Congenital Hypothyroidism - genetics | Congenital Hypothyroidism - pathology | Adult | Female | Thyroid Neoplasms - pathology | Thyroid cancer | Gene mutations | Hypothyroidism | Analysis | Risk factors
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13. Full Text An essential physiological role for MCT8 in bone in male mice
by Leitch, Victoria D and Di Cosmo, Caterina and Liao, Xiao-Hui and O'Boy, Sam and Galliford, Thomas M and Evans, Holly and Croucher, Peter I and Boyde, Alan and Dumitrescu, Alexandra and Weiss, Roy E and Refetoff, Samuel and Williams, Graham R and Bassett, J. H. Duncan
Endocrinology, ISSN 0013-7227, 09/2017, Volume 158, Issue 9, pp. 3055 - 3066
T3 is an important regulator of skeletal development and adult bone maintenance. Thyroid hormone action requires efficient transport of T4 and T3 into target... 
MAINTENANCE | OSTEOBLASTOGENESIS | THYROID-STIMULATING HORMONE | IODOTHYRONINE DEIODINASE | TRANSPORTER GENE | MUTATION | MINERALIZATION | ENDOCRINOLOGY & METABOLISM | TSH | TNF-ALPHA | SKELETAL DEVELOPMENT | Bone and Bones - physiology | Mice, Inbred C57BL | Male | Membrane Transport Proteins - physiology | Mice, Knockout | Phenotype | Thyroid Gland - physiology | Animals | Chondrocytes - physiology | Membrane Transport Proteins - genetics | Thyroid Hormones - blood | Bone and Bones - metabolism | Thyroid Diseases - genetics | Thyroid Diseases - metabolism | Fetal Development - genetics | Mice | Bone Development - genetics | Iodide Peroxidase - genetics | Bone and Bones - embryology | Thyroid Gland - metabolism | Thyroid gland | Maintenance | Mutants | Ossification | Osteoporosis | Growth plate | Biomedical materials | Bone mass | Coding | Mineralization | Rodents | Chondrocytes | Thyroxine | Biocompatibility | Physiology | Triiodothyronine | Bone | Bone strength | Transporter | Bone (endochondral) | Thyroid
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14. Full Text The syndrome of inherited partial SBP2 deficiency in humans
by Dumitrescu, Alexandra M and Cosmo, Caterina Di and Liao, Xiao-Hui and Weiss, Roy E and Refetoff, Samuel
Antioxidants and Redox Signaling, ISSN 1523-0864, 04/2010, Volume 12, Issue 7, pp. 905 - 920
Selenium (Se) is an essential trace element required for the biosynthesis of selenoproteins. Selenocysteine insertion sequence (SECIS) binding protein 2 (SBP2)... 
EUTHYROID SICK SYNDROME | CONSUMPTIVE HYPOTHYROIDISM | TUMOR-NECROSIS-FACTOR | TARGETED DISRUPTION | THYROID-HORMONE METABOLISM | BONE-MARROW-TRANSPLANTATION | SELENOCYSTEINE TRANSFER-RNA | BIOCHEMISTRY & MOLECULAR BIOLOGY | ENDOCRINOLOGY & METABOLISM | SELENOPROTEIN SYNTHESIS | TYPE-3 IODOTHYRONINE DEIODINASE | NONTHYROIDAL ILLNESS SYNDROME | Cell Line | RNA-Binding Proteins - genetics | Thyroid Function Tests | Humans | Male | Syndrome | Thyroid Hormones - chemistry | Pregnancy | Phenotype | Animals | Selenium - metabolism | Pedigree | Thyroid Hormones - metabolism | Adolescent | Adult | Female | Molecular Structure | Mutation | Child | Dietary Supplements | RNA-Binding Proteins - metabolism | Selenium - administration & dosage | Physiological aspects | Genetic aspects | Selenium | Research | Selenoproteins | Thyroid hormones | Health aspects | Forum Review
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15. The different requirement of L-T4 therapy in congenital athyreosis compared with adult-acquired hypothyroidism suggests a persisting thyroid hormone resistance at the hypothalamic-pituitary level
by Bagattini, Brunella and Cosmo, Caterina Di and Montanelli, Lucia and Piaggi, Paolo and Ciampi, Mariella and Agretti, Patrizia and Marco, Giuseppina De and Vitti, Paolo and Tonacchera, Massimo
European journal of endocrinology, 11/2014, Volume 171, Issue 5, p. 615
Levothyroxine (l-T4) is commonly employed to correct hormone deficiency in children with congenital hypothyroidism (CH) and in adult patients with iatrogenic... 
Congenital Hypothyroidism - blood | Humans | Thyroxine - administration & dosage | Thyroid Hormone Resistance Syndrome - drug therapy | Thyroxine - blood | Male | Congenital Hypothyroidism - drug therapy | Thyroid Dysgenesis - blood | Young Adult | Thyroid Hormone Resistance Syndrome - blood | Thyroid Hormones - blood | Adult | Female | Hypothyroidism - epidemiology | Thyroxine - therapeutic use | Hypothalamo-Hypophyseal System - pathology | Hormone Replacement Therapy - statistics & numerical data | Thyroid Dysgenesis - epidemiology | Thyroidectomy | Thyroid Hormone Resistance Syndrome - epidemiology | Adolescent | Hypothyroidism - drug therapy | Hormone Replacement Therapy - methods | Thyroid Dysgenesis - drug therapy | Hypothyroidism - blood | Congenital Hypothyroidism - epidemiology
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16. Full Text Mct8-Deficient Mice Have Increased Energy Expenditure and Reduced Fat Mass That Is Abrogated by Normalization of Serum T3Levels
by Di Cosmo, Caterina and Liao, Xiao-Hui and Ye, Honggang and Ferrara, Alfonso Massimiliano and Weiss, Roy E and Refetoff, Samuel and Dumitrescu, Alexandra M
Endocrinology, ISSN 0013-7227, 12/2013, Volume 154, Issue 12, pp. 4885 - 4895
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17. Full Text Clinical and Molecular Characterization of a Novel Selenocysteine Insertion Sequence-Binding Protein 2 (SBP2) Gene Mutation (R128X)
by Di Cosmo, Caterina and McLellan, Neil and Liao, Xiao-Hui and Khanna, Kum Kum and Weiss, Roy E and Papp, Laura and Refetoff, Samuel
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 10/2009, Volume 94, Issue 10, pp. 4003 - 4009
Context: Although acquired abnormalities of thyroid hormone metabolism are common, inherited defects in humans involving the synthesis of selenoproteins,... 
TARGETED DISRUPTION | RESCUE | SELENOPROTEIN-P | NONSENSE | THYROID-HORMONE METABOLISM | ENDOCRINOLOGY & METABOLISM | MICE | TRANSFER-RNA | EXPRESSION | DEIODINASE DEFICIENCY | SELENIUM DEFICIENCY | RNA-Binding Proteins - genetics | Protein Biosynthesis | Thyroid Function Tests | Humans | Selenium - deficiency | Male | Ghana | Triiodothyronine - therapeutic use | Body Height - genetics | RNA-Binding Proteins - biosynthesis | Phenotype | Arginine | Thyroid Hormones - blood | Polymerase Chain Reaction | African Continental Ancestry Group - genetics | Codon - genetics | Mutation | Child | Triiodothyronine - administration & dosage | Thyrotropin - blood | Original
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18. Full Text Distinct Roles of Deiodinases on the Phenotype of Mct8 Defect: A Comparison of Eight Different Mouse Genotypes
by Liao, Xiao-Hui and Di Cosmo, Caterina and Dumitrescu, Alexandra M and Hernandez, Arturo and Van Sande, Jacqueline and St. Germain, Donald L and Weiss, Roy E and Galton, Valerie Anne and Refetoff, Samuel
Endocrinology, ISSN 0013-7227, 03/2011, Volume 152, Issue 3, pp. 1180 - 1191
Mice with combined gene deletion demonstrate that iodothyronine deiodinases (D1 and D2) are important in the manifestations and levels of impairment caused by... 
TYPE-2 IODOTHYRONINE DEIODINASE | RAT | METABOLISM | ENDOCRINOLOGY & METABOLISM | GENE-EXPRESSION | RECEPTOR | MICE | MONOCARBOXYLATE TRANSPORTER-8 | MUTATIONS | DEFICIENCY | THYROID-HORMONE TRANSPORTER | Brain - metabolism | Animals | Membrane Transport Proteins - genetics | Liver - metabolism | Iodide Peroxidase - metabolism | Genotype | Male | Mice | Gene Expression Regulation, Enzymologic - physiology | Iodide Peroxidase - genetics | Thyroid-TRH-TSH
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19. Full Text Thyroid Hormone Receptor α and Regulation of Type 3 Deiodinase
by Barca-Mayo, Olga and Liao, Xiao-Hui and Alonso, Manuela and Di Cosmo, Caterina and Hernandez, Arturo and Refetoff, Samuel and Weiss, Roy E
Molecular Endocrinology, ISSN 0888-8809, 04/2011, Volume 25, Issue 4, pp. 575 - 583
Thyroid hormone metabolism regulated by deiodinase type 3 is dependent on the thyroid hormone receptor alpha isoform. Mice deficient in thyroid hormone... 
RESPONSE ELEMENT | CELLS | TRIIODOTHYRONINE | GENE | ENDOCRINOLOGY & METABOLISM | VARIANT ALPHA-2 | CENTRAL-NERVOUS-SYSTEM | SERUM | RAT-BRAIN | TR-BETA | EXPRESSION | Promoter Regions, Genetic | Cells, Cultured | Gene Expression Regulation | RNA, Messenger - analysis | Male | Mice, Knockout | Thyroid Hormone Receptors alpha - deficiency | Animals | Triiodothyronine - metabolism | Thyroxine - metabolism | Iodide Peroxidase - metabolism | Polymerase Chain Reaction | Thyroid Hormone Receptors alpha - metabolism | Mice | Iodide Peroxidase - genetics | 500 | Original Research | 200
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