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Samuel Refetoff

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TOP 3
Alexandra M Dumitrescu; Samuel Refetoff
The syndromes of reduced sensitivity to thyroid hormone.
Pia Hermanns; Jessica Okamato; Joachim Pohlenz; Samuel Refetoff; Leeyat Slyper; Chutintorn Sriphrapradang; Arnold H Slyper
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.
Shinjae Chung; Caterina Di Cosmo; Xiao-Hui Liao; Samuel Refetoff; Jacqueline Van Sande; Zhiwei Wang; Olivier Civelli
Disruption of the melanin-concentrating hormone receptor 1 (MCH1R) affects thyroid function.

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All Publications

2013: Alexandra M Dumitrescu; Samuel Refetoff
The syndromes of reduced sensitivity to thyroid hormone.
Biochimica et biophysica acta 2013;1830(7):3987-4003.
2013: Pia Hermanns; Jessica Okamato; Joachim Pohlenz; Samuel Refetoff; Leeyat Slyper; Chutintorn Sriphrapradang; Arnold H Slyper
A clinically euthyroid child with a large goiter due to a thyroglobulin gene defect: clinical features and genetic studies.
Journal of pediatric endocrinology & metabolism : JPEM 2013;26(1-2):119-23.
2012: Shinjae Chung; Caterina Di Cosmo; Xiao-Hui Liao; Samuel Refetoff; Jacqueline Van Sande; Zhiwei Wang; Olivier Civelli
Disruption of the melanin-concentrating hormone receptor 1 (MCH1R) affects thyroid function.
Endocrinology 2012;153(12):6145-54.
2012: Charles F Verge; Roy E Weiss; Michal Cohen; Caterina Di Cosmo; Alexandra M Dumitrescu; Shihab Hameed; Jill Hamilton; Daniel Konrad; Teresa Marcinkowski; Samuel Refetoff
Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.
The Journal of clinical endocrinology and metabolism 2012;97(12):4515-23.
2012: Francesco Antonica; Alexandra Mihaela Dumitrescu; Michelina Iacovino; Dominika Figini Kasprzyk; Michael Kyba; Xiao-Hui Liao; Mario Manto; Robert Opitz; Kathelijne Peremans; Samuel Refetoff; Sabine Costagliola
Generation of functional thyroid from embryonic stem cells.
Nature 2012;491(7422):66-71.
2012: Takashi Ozaki; Samuel Refetoff; Jaime Rodriguez-Canales; Yoshihito Sasaki; Daekwan Seo; Snorri S Thorgeirsson; Jeffrey Hanson; Suguru Hayase; Kennichi Kakudo; Xiao-Hui Liao; Tsutomu Matsubara; Tsubasa Murata; Kunio Nagashima; Minoru Okamoto; Shioko Kimura
Thyroid regeneration: characterization of clear cells after partial thyroidectomy.
Endocrinology 2012;153(5):2514-25.
2012: Alfonso Massimiliano Ferrara; Kazumichi Onigata; Roy E Weiss; Helen Woodhead; Oya Ercan; Samuel Refetoff
Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.
The Journal of clinical endocrinology and metabolism 2012;97(4):1328-36.
2012: Chutintorn Sriphrapradang; Alexandra M Dumitrescu; Alina German; Samuel Refetoff
Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone.
Thyroid : official journal of the American Thyroid Association 2012;22(3):252-7.
2012: Helmut Grasberger; Xiao-Hui Liao; Olga Barca Mayo; Houssam Raad; Xavier De Deken; Mia Weiss; Samuel Refetoff
Mice deficient in dual oxidase maturation factors are severely hypothyroid.
Molecular endocrinology (Baltimore, Md.) 2012;26(3):481-92.
2011: Olga Barca-Mayo; Caterina DiCosmo; Alexandra M Dumitrescu; Joe G. N. Garcia; Xiao-Hui Liao; Tamara Mirzapoiazova; Liliana Moreno Vinasco; Samuel Refetoff; Saad Sammani; Michael S Wade; Roy E Weiss
Role of type 2 deiodinase in response to acute lung injury (ALI) in mice.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(49):E1321-9.
2011: Valeria G Antico Arciuch; Florence Dasrath; Mariavittoria Dima; Kristy S Kang; Xiao-Hui Liao; Cristina Montagna; Samuel Refetoff; Marika A Russo; Antonio Di Cristofano
Thyrocyte-specific inactivation of p53 and Pten results in anaplastic thyroid carcinomas faithfully recapitulating human tumors.
Oncotarget 2011;2(12):1109-26.
2011: Debyani Chakravarty; Gideon Bollag; Ronald Ghossein; Jeffrey A Knauf; Richard Kolesnick; Steven M Larson; Xiao-Hui Liao; Samuel Refetoff; Neal Rosen; Mabel Ryder; Elmer Santos; Tin Htwe Thin; Brian L West; Pat Zanzonico; James A Fagin
Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation.
The Journal of clinical investigation 2011;121(12):4700-11.
2011: Chutintorn Sriphrapradang; Yardena Tenenbaum-Rakover; Mia Weiss; Marla S Barkoff; Osnat Admoni; Dallasheh Kawthar; Gianluigi Caltabiano; Leonardo Pardo; Alexandra M Dumitrescu; Samuel Refetoff
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
The Journal of clinical endocrinology and metabolism 2011;96(6):E1001-6.
2011: Pia Hermanns; Helmut Grasberger; Samuel Refetoff; Joachim Pohlenz
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
The Journal of clinical endocrinology and metabolism 2011;96(6):E977-81.
2011: Imge Hulur; Pia Hermanns; Claudia Nestoris; Sabine Heger; Samuel Refetoff; Joachim Pohlenz; Helmut Grasberger
A single copy of the recently identified dual oxidase maturation factor (DUOXA) 1 gene produces only mild transient hypothyroidism in a patient with a novel biallelic DUOXA2 mutation and monoallelic DUOXA1 deletion.
The Journal of clinical endocrinology and metabolism 2011;96(5):E841-5.
2011: Olga Barca-Mayo; Xiao-Hui Liao; Manuela Alonso; Caterina Di Cosmo; Arturo Hernandez; Samuel Refetoff; Roy E Weiss
Thyroid hormone receptor α and regulation of type 3 deiodinase.
Molecular endocrinology (Baltimore, Md.) 2011;25(4):575-83.
2011: Xiao-Hui Liao; Caterina Di Cosmo; Alexandra M Dumitrescu; Arturo Hernandez; Jacqueline Van Sande; Donald L St Germain; Roy E Weiss; Valerie Anne Galton; Samuel Refetoff
Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes.
Endocrinology 2011;152(3):1180-91.
2011: Lars C Moeller; N E Haselhorst; A M Dumitrescu; X Cao; H Seo; Samuel Refetoff; Klaus Mann; Onno Eilard Janssen
Stanniocalcin 1 induction by thyroid hormone depends on thyroid hormone receptor β and phosphatidylinositol 3-kinase activation.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2011;119(2):81-5.
2011: Aime T Franco; Roberta Malaguarnera; Samuel Refetoff; Xiao-Hui Liao; Emma Lundsmith; Shioko Kimura; Catrin Pritchard; Richard Marais; Terry F Davies; Lee S Weinstein; Min Chen; Neal Rosen; Ronald A Ghossein; Jeffrey A Knauf; James A Fagin
Thyrotrophin receptor signaling dependence of Braf-induced thyroid tumor initiation in mice.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(4):1615-20.
2011: Michelina Plateroti; Samuel Refetoff; Juan Bernal; Laurent Sachs
Thyroid hormones and their receptors: from development to disease.
Journal of thyroid research 2011;2011():284737.
2010: Caterina Di Cosmo; Xiao-Hui Liao; Alexandra M Dumitrescu; Nancy J Philp; Roy E Weiss; Samuel Refetoff
Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion.
The Journal of clinical investigation 2010;120(9):3377-88.
2010: Roy E Weiss; Alexandra M Dumitrescu; Samuel Refetoff
Approach to the patient with resistance to thyroid hormone and pregnancy.
The Journal of clinical endocrinology and metabolism 2010;95(7):3094-102.
2010: Marla S Barkoff; Masha Kocherginsky; João Anselmo; Roy E Weiss; Samuel Refetoff
Autoimmunity in patients with resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism 2010;95(7):3189-93.
2010: Artemis D Gika; Ata Siddiqui; Anthony J Hulse; Selvakumari Edward; Penny Fallon; Meriel E McEntagart; Wajanat Jan; Dragana Josifova; Tally Lerman-Sagie; James Drummond; Edward Thompson; Samuel Refetoff; Carsten G Bönnemann; Heinz Jungbluth
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.
Developmental medicine and child neurology 2010;52(5):475-82.
2010: Alexandra M Dumitrescu; Caterina Di Cosmo; Xiao-Hui Liao; Roy E Weiss; Samuel Refetoff
The syndrome of inherited partial SBP2 deficiency in humans.
Antioxidants & redox signaling 2010;12(7):905-20.
2010: Dongqing Wang; Xianmin Xia; Roy E Weiss; Samuel Refetoff; Paul M Yen
Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHalpha promoter.
PloS one 2010;5(3):e9853.
2009: Caterina Di Cosmo; Neil McLellan; Xiao-Hui Liao; Kum Kum Khanna; Roy E Weiss; Laura Papp; Samuel Refetoff
Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).
The Journal of clinical endocrinology and metabolism 2009;94(10):4003-9.
2009: Caterina Di Cosmo; Xiao-Hui Liao; Alexandra M Dumitrescu; Roy E Weiss; Samuel Refetoff
A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.
Endocrinology 2009;150(9):4450-8.
2009: Manuela Alonso; Charles Goodwin; Xiaohui Liao; Tania Ortiga-Carvalho; Danielle S Machado; Fredric E Wondisford; Samuel Refetoff; Roy E Weiss
In vivo interaction of steroid receptor coactivator (SRC)-1 and the activation function-2 domain of the thyroid hormone receptor (TR) beta in TRbeta E457A knock-in and SRC-1 knockout mice.
Endocrinology 2009;150(8):3927-34.
2009: Lars C Moeller; Craig Wardrip; Marek Niekrasz; Samuel Refetoff; Roy E Weiss
Comparison of thyroidectomized calf serum and stripped serum for the study of thyroid hormone action in human skin fibroblasts in vitro.
Thyroid : official journal of the American Thyroid Association 2009;19(6):639-44.
2009: Yardena Tenenbaum-Rakover; Helmut Grasberger; Sunee Mamanasiri; Usanee Ringkananont; Lucia Montanelli; Marla S Barkoff; Ahmad Mahameed-Hag Dahood; Samuel Refetoff
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
The Journal of clinical endocrinology and metabolism 2009;94(5):1706-12.
2009: Ainhoa Ceballos; Monica M Belinchon; Eduardo Sanchez-Mendoza; Carmen Grijota-Martinez; Alexandra M Dumitrescu; Samuel Refetoff; Beatriz Morte; Juan Bernal
Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine.
Endocrinology 2009;150(5):2491-6.
2009: Kelly A Miller; Nicole Yeager; Kristen Baker; Xiao-Hui Liao; Samuel Refetoff; Antonio Di Cristofano
Oncogenic Kras requires simultaneous PI3K signaling to induce ERK activation and transform thyroid epithelial cells in vivo.
Cancer research 2009;69(8):3689-94.
2009: Lutz Schomburg; Alexandra M Dumitrescu; Xiao-Hui Liao; Bassam Bin-Abbas; Johanna Hoeflich; Josef Köhrle; Samuel Refetoff
Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations.
Thyroid : official journal of the American Thyroid Association 2009;19(3):277-81.
2009: Brenda Kohn; Helmut Grasberger; Leslie L Lam; Alfonso Massimiliano Ferrara; Samuel Refetoff
A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.
Thyroid : official journal of the American Thyroid Association 2009;19(2):187-91.
2008: Jeremy Chester; Deborah Rotenstein; Usanee Ringkananont; Guy Steuer; Beatrice Carlin; Lindsay Stewart; Helmut Grasberger; Samuel Refetoff
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
Journal of pediatric endocrinology & metabolism : JPEM 2008;21(5):479-86.
2008: Ilaria Zamproni; Helmut Grasberger; Francesca Cortinovis; Maria Cristina Vigone; Giuseppe Chiumello; Stefano Mora; Kazumichi Onigata; Laura Fugazzola; Samuel Refetoff; Luca Persani; Giovanna Weber
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
The Journal of clinical endocrinology and metabolism 2008;93(2):605-10.
2008: J H Duncan Bassett; Allan J Williams; Elaine Murphy; Alan Boyde; Peter G T Howell; Rowan Swinhoe; Marta Archanco; Frédéric Flamant; Jacques Samarut; Sabine Costagliola; Gilbert Vassart; Roy E Weiss; Samuel Refetoff; Graham R Williams
A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism.
Molecular endocrinology (Baltimore, Md.) 2008;22(2):501-12.
2008: Alexandros Papadimitriou; Alexandra Mihaela Dumitrescu; Antigone Papavasiliou; Andreas Fretzayas; Polyxeni Nicolaidou; Samuel Refetoff
A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.
Pediatrics 2008;121(1):e199-202.
2008: Samuel Refetoff
Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone.
Nature clinical practice. Endocrinology & metabolism 2008;4(1):1.
2008: Fernando Palos; María E R García-Rendueles; David Araujo-Vilar; Maria Jesus Obregón; Rosa M Calvo; José Cameselle-Teijeiro; Susana B Bravo; Oscar Perez-Guerra; Lourdes Loidi; Barbara Czarnocka; Paula Alvarez; Samuel Refetoff; Lourdes Dominguez-Gerpe; Clara V Alvarez; Joaquin Lado-Abeal
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
The Journal of clinical endocrinology and metabolism 2008;93(1):267-77.
2007: Arturo Hernandez; M Elena Martinez; Xiao-Hui Liao; Jacqueline Van Sande; Samuel Refetoff; Valerie Anne Galton; Donald L St Germain
Type 3 deiodinase deficiency results in functional abnormalities at multiple levels of the thyroid axis.
Endocrinology 2007;148(12):5680-7.
2007: Manuela Alonso; Charles Goodwin; XiaoHui Liao; David Page; Samuel Refetoff; Roy E Weiss
Effects of maternal levels of thyroid hormone (TH) on the hypothalamus-pituitary-thyroid set point: studies in TH receptor beta knockout mice.
Endocrinology 2007;148(11):5305-12.
2007: Lars C Moeller; Manuela Alonso; Xiaohui Liao; Vance Broach; Alexandra M Dumitrescu; Jacqueline Van Sande; Lucia Montanelli; Stephen Skjei; Charles Goodwin; Helmut Grasberger; Samuel Refetoff; Roy E Weiss
Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats.
Endocrinology 2007;148(10):4727-33.
2007: Helmut Grasberger; Jacqueline Van Sande; Ahmad Hag-Dahood Mahameed; Yardena Tenenbaum-Rakover; Samuel Refetoff
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis.
The Journal of clinical endocrinology and metabolism 2007;92(7):2816-20.
2007: Samuel Refetoff; Alexandra M Dumitrescu
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Best practice & research. Clinical endocrinology & metabolism 2007;21(2):277-305.
2007: Helmut Grasberger; Xavier De Deken; Françoise Miot; Joachim Pohlenz; Samuel Refetoff
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor.
Molecular endocrinology (Baltimore, Md.) 2007;21(6):1408-21.
2007: Yardena Tenenbaum-Rakover; Sunee Mamanasiri; Carrie Ris Stalpers; Alina German; Joseph Sack; Stavit Allon-Shalev; Joachim Pohlenz; Samuel Refetoff
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Clinical endocrinology 2007;66(5):695-702.
2007: Alexandra M Dumitrescu; Samuel Refetoff
Novel biological and clinical aspects of thyroid hormone metabolism.
Endocrine development 2007;10():127-39.
2006: Frédéric Flamant; John D Baxter; Douglas Forrest; Samuel Refetoff; Herbert Samuels; Thomas S Scanlan; Björn Vennström; Jacques Samarut
International Union of Pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: thyroid hormone receptors.
Pharmacological reviews 2006;58(4):705-11.
2006: Deborah Mannavola; Guia Vannucchi; Laura Fugazzola; Valentina Cirello; Irene Campi; Giorgio Radetti; Luca Persani; Samuel Refetoff; Paolo Beck-Peccoz
TBG deficiency: description of two novel mutations associated with complete TBG deficiency and review of the literature.
Journal of molecular medicine (Berlin, Germany) 2006;84(10):864-71.
2006: Sunee Mamanasiri; Sena Yesil; Alexandra M Dumitrescu; Xiao-Hui Liao; tevfik demir; Roy E Weiss; Samuel Refetoff
Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism 2006;91(9):3471-7.
2006: Alexandra M Dumitrescu; Xiao-Hui Liao; Roy E Weiss; Kathleen J Millen; Samuel Refetoff
Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.
Endocrinology 2006;147(9):4036-43.
2006: Helmut Grasberger; Samuel Refetoff
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent.
The Journal of biological chemistry 2006;281(27):18269-72.
2006: Sharon Y Wu; Ronald N Cohen; Enver Simsek; Dursun A Senses; Nese E Yar; Helmut Grasberger; Janet Noel; Samuel Refetoff; Roy E Weiss
A novel thyroid hormone receptor-beta mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism 2006;91(5):1887-95.
2006: Yoko Takeuchi; Daisuke Suzuki; Sen-Ichi Oda; Samuel Refetoff; Koji Seki; Katsuhiko Tsunekawa; Takayuki Kasahara; Masami Murakami; Yoshiharu Murata
Unique regulation of thyroid hormone metabolism during fasting in the house musk shrew (Suncus murinus, Insectivora: Soricidae).
General and comparative endocrinology 2006;146(3):236-41.
2006: Usanee Ringkananont; Joost Van Durme; Lucia Montanelli; Figen Ugrasbul; Y Miles Yu; Roy E Weiss; Samuel Refetoff; Helmut Grasberger
Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
Molecular endocrinology (Baltimore, Md.) 2006;20(4):893-903.
2006: Simonetta Lisi; Roberta Botta; Aldo Pinchera; A Bernard Collins; Samuel Refetoff; Peter Arvan; Guojun Bu; Lucia Grasso; Vladimir Marshansky; Shaliha Bechoua; Andres Hurtado-Lorenzo; Claudio Marcocci; Dennis Brown; Robert T McCluskey; Michele Marinò
Defective thyroglobulin storage in LDL receptor-associated protein-deficient mice.
American journal of physiology. Cell physiology 2006;290(4):C1160-7.
2006: Amisra A Nikrodhanond; Tania M Ortiga-Carvalho; Nobuyuki Shibusawa; Koshi Hashimoto; Xiao-Hui Liao; Samuel Refetoff; Masanobu Yamada; Masatomo Mori; Fredric E Wondisford
Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis.
The Journal of biological chemistry 2006;281(8):5000-7.
2006: Lars C Moeller; Xia Cao; Alexandra M Dumitrescu; Hisao Seo; Samuel Refetoff
Thyroid hormone mediated changes in gene expression can be initiated by cytosolic action of the thyroid hormone receptor beta through the phosphatidylinositol 3-kinase pathway.
Nuclear receptor signaling 2006;4():e020.
2006: Kenan Qin; David A Ehrmann; Nancy Cox; Samuel Refetoff; Robert L Rosenfield
Identification of a functional polymorphism of the human type 5 17beta-hydroxysteroid dehydrogenase gene associated with polycystic ovary syndrome.
The Journal of clinical endocrinology and metabolism 2006;91(1):270-6.
2005: Helmut Grasberger; Martine Vaxillaire; Silvana Pannain; John C Beck; Aviva Mimouni-Bloch; Vincent Vatin; Gilbert Vassart; philippe froguel; Samuel Refetoff
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1.
Human genetics 2005;118(3-4):348-55.
2005: Lars C Moeller; Alexandra M Dumitrescu; Samuel Refetoff
Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes.
Molecular endocrinology (Baltimore, Md.) 2005;19(12):2955-63.
2005: Alexandra M Dumitrescu; Xiao-Hui Liao; Mohamed S Y Abdullah; Joaquin Lado-Abeal; Fathia Abdul Majed; Lars C Moeller; Gerard Boran; Lutz Schomburg; Roy E Weiss; Samuel Refetoff
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.
Nature genetics 2005;37(11):1247-52.
2005: J H McDermott; A Agha; M McMahon; D Gasparro; Lars C Moeller; A M Dumitrescu; Samuel Refetoff; S Sreenan
A case of Resistance to Thyroid Hormone without mutation in the thyroid hormone receptor beta.
Irish journal of medical science 2005;174(4):60-4.
2005: Tania M Ortiga-Carvalho; Nobuyuki Shibusawa; Amisra A Nikrodhanond; Karen Jesus Oliveira; Danielle S Machado; Xiao-Hui Liao; Ronald N Cohen; Samuel Refetoff; Fredric E Wondisford
Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface.
The Journal of clinical investigation 2005;115(9):2517-23.
2005: Sharon Y Wu; Peter M Sadow; Samuel Refetoff; Roy E Weiss
Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T).
The Journal of laboratory and clinical medicine 2005;146(2):85-94.
2005: Helmut Grasberger; Usanee Ringkananont; Michael Croxson; Samuel Refetoff
Resistance to thyroid hormone in a patient with thyroid dysgenesis.
Thyroid : official journal of the American Thyroid Association 2005;15(7):730-3.
2005: Helmut Grasberger; Aviva Mimouni-Bloch; Marie-Christine Vantyghem; Guy Van Vliet; Marc J Abramowicz; Daniel L Metzger; Hussein Abdullatif; Catherine Rydlewski; Paolo Emidio Macchia; Neal H Scherberg; Jacqueline Van Sande; Marc Mimouni; Roy E Weiss; Gilbert Vassart; Samuel Refetoff
Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds: clinical characterization and exclusion of candidate loci.
The Journal of clinical endocrinology and metabolism 2005;90(7):4025-34.
2005: Helmut Grasberger; Usanee Ringkananont; Paule Lefrancois; Marc J Abramowicz; Gilbert Vassart; Samuel Refetoff
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
Molecular endocrinology (Baltimore, Md.) 2005;19(7):1779-91.
2005: Knut Brockmann; Alexandra M Dumitrescu; Thomas T Best; Folker Hanefeld; Samuel Refetoff
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
Journal of neurology 2005;252(6):663-6.
2005: Jeffrey A Knauf; Xiaolan Ma; Eric P Smith; Lei Zhang; Norisato Mitsutake; Xiao-Hui Liao; Samuel Refetoff; Yuri E Nikiforov; James A Fagin
Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation.
Cancer research 2005;65(10):4238-45.
2005: Joaquin Lado-Abeal; Alexandra M Dumitrescu; Xiao-Hui Liao; Ronald N Cohen; Joachim Pohlenz; Roy E Weiss; Marie-Christine Lebrethon; Alain Verloes; Samuel Refetoff
A de novo mutation in an already mutant nucleotide of the thyroid hormone receptor beta gene perpetuates resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism 2005;90(3):1760-7.
2005: Lars C Moeller; Alexandra M Dumitrescu; Robert L Walker; Paul S Meltzer; Samuel Refetoff
Thyroid hormone responsive genes in cultured human fibroblasts.
The Journal of clinical endocrinology and metabolism 2005;90(2):936-43.
2005: Xia Cao; Fukushi Kambe; Lars C Moeller; Samuel Refetoff; Hisao Seo
Thyroid hormone induces rapid activation of Akt/protein kinase B-mammalian target of rapamycin-p70S6K cascade through phosphatidylinositol 3-kinase in human fibroblasts.
Molecular endocrinology (Baltimore, Md.) 2005;19(1):102-12.
2004: Jaime Kim; Sirimon Reutrakul; Dawn Belt Davis; Edwin L Kaplan; Samuel Refetoff
Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess.
European journal of endocrinology / European Federation of Endocrine Societies 2004;151(6):771-7.
2004: Sabine Costagliola; Marco Bonomi; Nils G. Morgenthaler; Joost Van Durme; Valérie Panneels; Samuel Refetoff; Gilbert Vassart
Delineation of the discontinuous-conformational epitope of a monoclonal antibody displaying full in vitro and in vivo thyrotropin activity.
Molecular endocrinology (Baltimore, Md.) 2004;18(12):3020-34.
2004: João Anselmo; Dingcai Cao; Theodore Karrison; Roy E Weiss; Samuel Refetoff
Fetal loss associated with excess thyroid hormone exposure.
JAMA : the journal of the American Medical Association 2004;292(6):691-5.
2004: Guntram Borck; A Kemal Topaloglu; Eckhard Korsch; Ursula Martiné; Gabriele Wildhardt; Neslihan Onenli-Mungan; Bilgin Yuksel; Ulrich Aumann; Gerhard Koch; Güler Ozer; Roland Pfäffle; Neal H Scherberg; Samuel Refetoff; Joachim Pohlenz
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
The Journal of clinical endocrinology and metabolism 2004;89(8):4136-41.
2004: Abdullah Bereket; Xiao-Hui Liao; Turgut Turoglu; Erkin ARIBAL; Samuel Refetoff
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
Journal of pediatric endocrinology & metabolism : JPEM 2004;17(7):1021-9.
2004: Anja Fingerhut; Sirimon Reutrakul; Sebastian D Knuedeler; Lars C Moeller; Carol Greenlee; Samuel Refetoff; Onno Eilard Janssen
Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide.
The Journal of clinical endocrinology and metabolism 2004;89(5):2477-83.
2004: Deborah Mannavola; Lars C Moeller; Paolo Beck-Peccoz; Luca Persani; Roy E Weiss; Samuel Refetoff
A novel splice variant involving the 5' untranslated region of thyroid hormone receptor beta1 (TRbeta1).
Journal of endocrinological investigation 2004;27(4):318-22.
2004: Sirimon Reutrakul; Eba H Hathout; Donald Janner; Manami Hara; Joseph Donfack; Joseph Bass; Samuel Refetoff
Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance.
Thyroid : official journal of the American Thyroid Association 2004;14(4):311-9.
2004: Yutaka Mizuno; Yasuhiko Kanou; Margarita B Rogatcheva; Tsuneo Imai; Samuel Refetoff; Hisao Seo; Yoshiharu Murata
Genomic organization of mouse ZAKI-4 gene that encodes ZAKI-4 alpha and beta isoforms, endogenous calcineurin inhibitors, and changes in the expression of these isoforms by thyroid hormone in adult mouse brain and heart.
European journal of endocrinology / European Federation of Endocrine Societies 2004;150(3):371-80.
2004: João Anselmo; Samuel Refetoff
Regression of a large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine.
Thyroid : official journal of the American Thyroid Association 2004;14(1):71-4.
2004: Alexandra M Dumitrescu; Xiao-Hui Liao; Thomas B Best; Knut Brockmann; Samuel Refetoff
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
American journal of human genetics 2004;74(1):168-75.
2003: Simonetta Lisi; Aldo Pinchera; Robert T McCluskey; Thomas E Willnow; Samuel Refetoff; Claudio Marcocci; Paolo Vitti; Francesca Menconi; Lucia Grasso; Fabiana Luchetti; A Bernard Collins; Michele Marino
Preferential megalin-mediated transcytosis of low-hormonogenic thyroglobulin: a control mechanism for thyroid hormone release.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(25):14858-63.
2003: Parth Narendran; Joaquin Lado-Abeal; Lars C Moeller; Samuel Refetoff
Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene.
Clinical endocrinology 2003;59(6):824-5.
2003: Lars C Moeller; Shioko Kimura; Takashi Kusakabe; Xiao-Hui Liao; Jacqueline Van Sande; Samuel Refetoff
Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor.
Molecular endocrinology (Baltimore, Md.) 2003;17(11):2295-302.
2003: Massimo Tonacchera; Patrizia Agretti; Giuseppina de Marco; Rossella Elisei; Anna Perri; Elena Ambrogini; Melissa de Servi; Claudia Ceccarelli; Paolo Viacava; Samuel Refetoff; Claudio Panunzi; Maria Luisa Manca Bitti; Paolo Vitti; Luca Chiovato; Aldo Pinchera
Congenital hypothyroidism due to a new deletion in the sodium/iodide symporter protein.
Clinical endocrinology 2003;59(4):500-6.
2003: Samuel Refetoff
Resistance to thyrotropin.
Journal of endocrinological investigation 2003;26(8):770-9.
2003: Samuel Refetoff
The syndrome of resistance to thyroid stimulating hormone.
Journal of the Chinese Medical Association : JCMA 2003;66(8):441-52.
2003: Nobuyuki Shibusawa; Koshi Hashimoto; Amisra A Nikrodhanond; M Charles Liberman; Meredithe L Applebury; Xiao-Hui Liao; Janet T Robbins; Samuel Refetoff; Ronald N Cohen; Fredric E Wondisford
Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo.
The Journal of clinical investigation 2003;112(4):588-97.
2003: Joaquin Lado-Abeal; Eleonora Molinaro; Erin DeValk; Furio Pacini; Samuel Refetoff
The effect of short-term treatment with recombinant human thyroid-stimulating hormones on leydig cell function in men.
Thyroid : official journal of the American Thyroid Association 2003;13(7):649-52.
2003: Paul M Yen; Xu Feng; Frédéric Flamant; Yidong Chen; Robert L Walker; Roy E Weiss; Olivier Chassande; Jacques Samarut; Samuel Refetoff; Paul S Meltzer
Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice.
EMBO reports 2003;4(6):581-7.
2003: Shelly Tartakover Matalon; Miri Blank; Yair Levy; Howard Carp; Ayala Arad; CAROL BUREK; Eyal Grunebaum; Yaniv Sherer; Asher Ornoy; Samuel Refetoff; Roy E Weiss; Noel R Rose; Yehuda Shoenfeld
The pathogenic role of anti-thyroglobulin antibody on pregnancy: evidence from an active immunization model in mice.
Human reproduction (Oxford, England) 2003;18(5):1094-9.
2003: Avraham Ishay; Alexandra Dumitrescu; Rafael Luboshitzky; Yardena Rakover; Samuel Refetoff
A new case of resistance to thyroid hormone caused by a de novo P453T mutation in the thyroid hormone receptor gene in an Israeli child.
Thyroid : official journal of the American Thyroid Association 2003;13(4):409-12.
2003: Samuel Refetoff
Resistance to thyroid hormone with and without receptor gene mutations.
Annales d'endocrinologie 2003;64(1):23-5.
2002: Paolo Emidio Macchia; Ping Jiang; Yan-Dar Yuan; Roshantha A S Chandarardna; Roy E Weiss; Olivier Chassande; Jacques Samarut; Samuel Refetoff; Charles F Burant
RXR receptor agonist suppression of thyroid function: central effects in the absence of thyroid hormone receptor.
American journal of physiology. Endocrinology and metabolism 2002;283(2):E326-31.
2002: Margarita B Rogatcheva; Yoshitaka Hayashi; Sen Oda; Hisao Seo; Kevin Cua; Samuel Refetoff; Masami Murakami; Masatomo Mori; Yoshiharu Murata
Type 1 iodothyronine deiodinase in the house musk shrew (Suncus murinus, Insectivora: Soricidae): cloning and characterization of complementary DNA, unique tissue distribution and regulation by T(3).
General and comparative endocrinology 2002;127(1):48-58.
2002: Roy E Weiss; Martine Gehin; Jianming Xu; Peter M Sadow; Bert W O'Malley; Pierre Chambon; Samuel Refetoff
Thyroid function in mice with compound heterozygous and homozygous disruptions of SRC-1 and TIF-2 coactivators: evidence for haploinsufficiency.
Endocrinology 2002;143(4):1554-7.
2002: Yoko Takeuchi; Yoshiharu Murata; Peter Sadow; Yoshitaka Hayashi; Hisao Seo; Jianming Xu; Bert W O'Malley; Roy E Weiss; Samuel Refetoff
Steroid receptor coactivator-1 deficiency causes variable alterations in the modulation of T(3)-regulated transcription of genes in vivo.
Endocrinology 2002;143(4):1346-52.
2002: Onno Eilard Janssen; Henriette M B Golcher; Helmut Grasberger; Bernhard Saller; Klaus Mann; Samuel Refetoff
Characterization of T(4)-binding globulin cleaved by human leukocyte elastase.
The Journal of clinical endocrinology and metabolism 2002;87(3):1217-22.
2002: Sirimon Reutrakul; Alexandra M Dumitrescu; Paolo Emidio Macchia; George William Moll; H Vierhapper; Samuel Refetoff
Complete thyroxine-binding globulin (TBG) deficiency in two families without mutations in coding or promoter regions of the TBG genes: in vitro demonstration of exon skipping.
The Journal of clinical endocrinology and metabolism 2002;87(3):1045-51.
2002: Joachim Pohlenz; Alexandra M Dumitrescu; Dorothee Zundel; Ursula Martiné; Winfried Schönberger; Edward H Koo; Roy E Weiss; Ronald N Cohen; Shioko Kimura; Samuel Refetoff
Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice.
The Journal of clinical investigation 2002;109(4):469-73.
2002: Onno Eilard Janssen; Harald Lahner; Helmut Grasberger; Sabine A Spring; Bernhard Saller; Klaus Mann; Samuel Refetoff; Ralf Einspanier
Characterization and primary structures of bovine and porcine thyroxine-binding globulin.
Molecular and cellular endocrinology 2002;186(1):27-35.
2002: Joachim Pohlenz; Alexandra M Dumitrescu; Ulrich Aumann; Gerhard Koch; Ralph Melchior; Dirk Prawitt; Samuel Refetoff
Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.
The Journal of clinical endocrinology and metabolism 2002;87(1):336-9.
2002: Roy E Weiss; Olivier Chassande; E K Koo; Paolo Emidio Macchia; Kevin Cua; Jacques Samarut; Samuel Refetoff; S Refetoff
Thyroid function and effect of aging in combined hetero/homozygous mice deficient in thyroid hormone receptors alpha and beta genes.
The Journal of endocrinology 2002;172(1):177-85.
2001: Joachim Pohlenz; Peter M Sadow; T Koffler; Winfried Schönberger; Roy E Weiss; Samuel Refetoff
Congenital hypothyroidism in a child with unsuspected familial dysalbuminemic hyperthyroxinemia caused by a mutation (R218H) in the human albumin gene.
The Journal of pediatrics 2001;139(6):887-91.
2001: Serge Clément; Samuel Refetoff; Bernard Robaye; Jacques E Dumont; Stéphane Schurmans
Low TSH requirement and goiter in transgenic mice overexpressing IGF-I and IGF-Ir receptor in the thyroid gland.
Endocrinology 2001;142(12):5131-9.
2001: Sirimon Reutrakul; Onno Eilard Janssen; Samuel Refetoff
Three novel mutations causing complete T(4)-binding globulin deficiency.
The Journal of clinical endocrinology and metabolism 2001;86(10):5039-44.
2001: Shinichiro Ando; Nicholas Sarlis; J Krishnan; Xu Feng; Samuel Refetoff; M Q Zhang; Edward H Oldfield; Paul M Yen
Aberrant alternative splicing of thyroid hormone receptor in a TSH-secreting pituitary tumor is a mechanism for hormone resistance.
Molecular endocrinology (Baltimore, Md.) 2001;15(9):1529-38.
2001: Karine Gauthier; Michelina Plateroti; Clare B Harvey; Graham R Williams; Roy E Weiss; Samuel Refetoff; James F Willott; VS Sundin; Jean-Paul Roux; Luc Malaval; M Hara; Jacques Samarut; Olivier Chassande
Genetic analysis reveals different functions for the products of the thyroid hormone receptor alpha locus.
Molecular and cellular biology 2001;21(14):4748-60.
2001: Massimo Tonacchera; Patrizia Agretti; Giovanni Ceccarini; R Lenza; Samuel Refetoff; Ferruccio Santini; Aldo Pinchera; Luca Chiovato; Paolo Vitti
Autoantibodies from patients with autoimmune thyroid disease do not interfere with the activity of the human iodide symporter gene stably transfected in CHO cells.
European journal of endocrinology / European Federation of Endocrine Societies 2001;144(6):611-8.
2001: Paolo Emidio Macchia; Y Takeuchi; T Kawai; Kevin Cua; Karine Gauthier; Olivier Chassande; Hisao Seo; Y Hayashi; Jacques Samarut; Yoshiharu Murata; Roy E Weiss; Samuel Refetoff
Increased sensitivity to thyroid hormone in mice with complete deficiency of thyroid hormone receptor alpha.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(1):349-54.
2000: Sirimon Reutrakul; Peter M Sadow; Silvana Pannain; Joachim Pohlenz; GA Carvalho; Paolo Emidio Macchia; Roy E Weiss; Samuel Refetoff
Search for abnormalities of nuclear corepressors, coactivators, and a coregulator in families with resistance to thyroid hormone without mutations in thyroid hormone receptor beta or alpha genes.
The Journal of clinical endocrinology and metabolism 2000;85(10):3609-17.
2000: Silvana Pannain; M Feldman; U Eiholzer; Roy E Weiss; Neal H Scherberg; Samuel Refetoff
Familial dysalbuminemic hyperthyroxinemia in a Swiss family caused by a mutant albumin (R218P) shows an apparent discrepancy between serum concentration and affinity for thyroxine.
The Journal of clinical endocrinology and metabolism 2000;85(8):2786-92.
2000: Joachim Pohlenz; Laurence Duprez; Roy E Weiss; Gilbert Vassart; Samuel Refetoff; Sabine Costagliola
Failure of membrane targeting causes the functional defect of two mutant sodium iodide symporters.
The Journal of clinical endocrinology and metabolism 2000;85(7):2366-9.
2000: Claudine Heinrichs; Jasmine Parma; Neal H Scherberg; F Delange; Guy Van Vliet; Laurence Duprez; Pierre Bourdoux; P Bergmann; Gilbert Vassart; Samuel Refetoff
Congenital central isolated hypothyroidism caused by a homozygous mutation in the TSH-beta subunit gene.
Thyroid : official journal of the American Thyroid Association 2000;10(5):387-91.
2000: Roy E Weiss; Samuel Refetoff
Resistance to thyroid hormone.
Reviews in endocrine & metabolic disorders 2000;1(1-2):97-108.
2000: Onno Eilard Janssen; ST Astner; Helmut Grasberger; S K Gunn; Samuel Refetoff
Identification of thyroxine-binding globulin-San Diego in a family from Houston and its characterization by in vitro expression using Xenopus oocytes.
The Journal of clinical endocrinology and metabolism 2000;85(1):368-72.
1999: Oksana Gavrilova; LR Leon; Bernice Marcus-Samuels; MM Mason; AL Castle; Samuel Refetoff; Charles Vinson; Marc L Reitman
Torpor in mice is induced by both leptin-dependent and -independent mechanisms.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(25):14623-8.
1999: Joachim Pohlenz; A Maqueem; Kevin Cua; Roy E Weiss; Jacqueline Van Sande; Samuel Refetoff
Improved radioimmunoassay for measurement of mouse thyrotropin in serum: strain differences in thyrotropin concentration and thyrotroph sensitivity to thyroid hormone.
Thyroid : official journal of the American Thyroid Association 1999;9(12):1265-71.
1999: Joachim Pohlenz; L Manders; Peter M Sadow; P C Kansal; Samuel Refetoff; Roy E Weiss
A novel point mutation in cluster 3 of the thyroid hormone receptor beta gene (P247L) causing mild resistance to thyroid hormone.
Thyroid : official journal of the American Thyroid Association 1999;9(12):1195-203.
1999: Joachim Pohlenz; Roy E Weiss; Paolo Emidio Macchia; Silvana Pannain; I T Lau; H Ho; Samuel Refetoff
Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene.
The Journal of clinical endocrinology and metabolism 1999;84(11):3919-28.
1999: Joachim Pohlenz; Winfried Schönberger; T Koffler; Samuel Refetoff
Resistance to thyroid hormone caused by a new mutation (V336M) in the thyroid hormone receptor beta gene.
Thyroid : official journal of the American Thyroid Association 1999;9(10):1001-4.
1999: M Menjo; Satoru Yamaguchi; Yoshiharu Murata; Yoshitaka Hayashi; Takashi Nagaya; Sachiko Ohmori; Samuel Refetoff; Hisao Seo
Responsiveness to thyroid hormone is enhanced in rat hepatocytes cultured as spheroids compared with that in monolayers: altered responsiveness to thyroid hormone possibly involves complex formed on thyroid hormone response elements.
Thyroid : official journal of the American Thyroid Association 1999;9(9):959-67.
1999: Dov Tiosano; Silvana Pannain; Gilbert Vassart; J Parma; Ruth Gershoni-Baruch; Hanna Mandel; R Lotan; Y Zaharan; Menucha Pery; Roy E Weiss; Samuel Refetoff; Ze'ev Hochberg
The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
Thyroid : official journal of the American Thyroid Association 1999;9(9):887-94.
1999: Joachim Pohlenz; Samuel Refetoff
Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.
Biochimie 1999;81(5):469-76.
1999: Roy E Weiss; Jinhua Xu; G Ning; J Pohlenz; Bert W O'Malley; Samuel Refetoff
Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone.
The EMBO journal 1999;18(7):1900-4.
1999: Silvana Pannain; Roy E Weiss; C E Jackson; D Dian; J C Beck; V C Sheffield; N Cox; Samuel Refetoff
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
The Journal of clinical endocrinology and metabolism 1999;84(3):1061-71.
1998: Roy E Weiss; Yoshiharu Murata; Kevin Cua; Y Hayashi; Hisao Seo; Samuel Refetoff
Thyroid hormone action on liver, heart, and energy expenditure in thyroid hormone receptor beta-deficient mice.
Endocrinology 1998;139(12):4945-52.
1998: GA Carvalho; Roy E Weiss; Samuel Refetoff
Complete thyroxine-binding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-Kankakee).
The Journal of clinical endocrinology and metabolism 1998;83(10):3604-8.
1998: Y Hayashi; J Xie; Roy E Weiss; Joachim Pohlenz; Samuel Refetoff
Selective pituitary resistance to thyroid hormone produced by expression of a mutant thyroid hormone receptor beta gene in the pituitary gland of transgenic mice.
Biochemical and biophysical research communications 1998;245(1):204-10.
1998: Joachim Pohlenz; I M Rosenthal; Roy E Weiss; S M Jhiang; Charles F Burant; Samuel Refetoff
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
The Journal of clinical investigation 1998;101(5):1028-35.
1998: GA Carvalho; Roy E Weiss; A O Vladutiu; Samuel Refetoff
Complete deficiency of thyroxine-binding globulin (TBG-CD Buffalo) caused by a new nonsense mutation in the thyroxine-binding globulin gene.
Thyroid : official journal of the American Thyroid Association 1998;8(2):161-5.
1997: Jun Xie; Silvana Pannain; Joachim Pohlenz; Roy E Weiss; K Moltz; M Morlot; Carmela Asteria; Luca Persani; Paolo Beck-Peccoz; J Parma; Gilbert Vassart; Samuel Refetoff
Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
The Journal of clinical endocrinology and metabolism 1997;82(12):3933-40.
1997: Joachim Pohlenz; Geraldo Medeiros-Neto; J L Gross; S P Silveiro; Meyer Knobel; Samuel Refetoff
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
Biochemical and biophysical research communications 1997;240(2):488-91.
1997: Roy E Weiss; D Forrest; Joachim Pohlenz; Kevin Cua; T Curran; Samuel Refetoff
Thyrotropin regulation by thyroid hormone in thyroid hormone receptor beta-deficient mice.
Endocrinology 1997;138(9):3624-9.
1997: Yoshitaka Hayashi; Satoru Yamaguchi; J Pohlenz; Yoshiharu Murata; Samuel Refetoff; Hisao Seo
Modification of thyroid hormone and 9-cis retinoic acid signaling by overexpression of their cognate receptors using adenoviral vector.
Molecular and cellular endocrinology 1997;131(1):59-66.
1997: Seamus Sreenan; JF Caro; Samuel Refetoff
Thyroid dysfunction is not associated with alterations in serum leptin levels.
Thyroid : official journal of the American Thyroid Association 1997;7(3):407-9.
1997: Roy E Weiss; Mark Stein; Samuel Refetoff
Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone.
Thyroid : official journal of the American Thyroid Association 1997;7(3):389-93.
1997: H Yagi; Joachim Pohlenz; Y Hayashi; A Sakurai; Samuel Refetoff
Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,3'-triiodothyroinine binding affinity.
The Journal of clinical endocrinology and metabolism 1997;82(5):1608-14.
1997: Roy E Weiss; H Tunca; W L Knapple; F H Faas; Samuel Refetoff
Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor beta gene (R320C).
Thyroid : official journal of the American Thyroid Association 1997;7(1):35-8.
1997: Samuel Refetoff
Resistance to thyroid hormone.
Current therapy in endocrinology and metabolism 1997;6():132-4.
1996: Samuel Refetoff; H Tunca; D L Wilansky; V C Mussey; Roy E Weiss
Mutation in the thyroid hormone receptor (TR) beta gene (M313T) not previously reported in two unrelated families with resistance to thyroid hormone (RTH).
Thyroid : official journal of the American Thyroid Association 1996;6(6):571-3.
1996: Roy E Weiss; Y Hayashi; T Nagaya; Petty Kevin; Y Murata; H Tunca; H Seo; Samuel Refetoff
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.
The Journal of clinical endocrinology and metabolism 1996;81(12):4196-203.
1996: I M Rosenthal; Samuel Refetoff; B Rich; Randall B Barnes; T Sunthornthepvarakul; J Parma; Robert L Rosenfield
Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor--a clinical research center study.
The Journal of clinical endocrinology and metabolism 1996;81(10):3802-6.
1996: Roy E Weiss; Samuel Refetoff
Effect of thyroid hormone on growth. Lessons from the syndrome of resistance to thyroid hormone.
Endocrinology and metabolism clinics of North America 1996;25(3):719-30.
1996: Samuel Refetoff; V S Marinov; H Tunca; Maria M Byrne; T Sunthornthepvarakul; Roy E Weiss
A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.
The Journal of clinical endocrinology and metabolism 1996;81(9):3335-40.
1996: Roy E Weiss; H Tunca; H C Gerstein; Samuel Refetoff
A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH).
Thyroid : official journal of the American Thyroid Association 1996;6(4):311-2.
1996: Y Hidaka; Y Hayashi; Maria E Fisfalen; S Suzuki; T Takeda; Samuel Refetoff; Leslie J DeGroot
Expression of thyroid peroxidase in EBV-transformed B cell lines using adenovirus.
Thyroid : official journal of the American Thyroid Association 1996;6(1):23-8.
1996: Samuel Refetoff; Y Murata; Y Mori; Onno Eilard Janssen; K Takeda; Y Hayashi
Thyroxine-binding globulin: organization of the gene and variants.
Hormone research 1996;45(3-5):128-38.
1996: Y Hayashi; Dimitra Mangoura; Samuel Refetoff
A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor.
Molecular endocrinology (Baltimore, Md.) 1996;10(1):100-6.
1996: Samuel Refetoff; T Sunthornthepvarakul; M E Gottschalk; Y Hayashi
Resistance to thyrotropin and other abnormalities of the thyrotropin receptor.
Recent progress in hormone research 1996;51():97-120; discussion 120-2.
1995: Mark Stein; Roy E Weiss; Samuel Refetoff
Neurocognitive characteristics of individuals with resistance to thyroid hormone: comparisons with individuals with attention-deficit hyperactivity disorder.
Journal of developmental and behavioral pediatrics : JDBP 1995;16(6):406-11.
1995: S A Frank; D C Roland; Jeppe Sturis; Maria M Byrne; Samuel Refetoff; Kenneth S Polonsky; Eve Van Cauter
Effects of aging on glucose regulation during wakefulness and sleep.
The American journal of physiology 1995;269(6 Pt 1):E1006-16.
1995: Paolo Emidio Macchia; H H Harrison; Neal H Scherberg; T Sunthornthepfvarakul; J Jaeken; Samuel Refetoff
Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I.
The Journal of clinical endocrinology and metabolism 1995;80(12):3744-9.
1995: Y Hayashi; Roy E Weiss; David H Sarne; Paul M Yen; T Sunthornthepvarakul; Claudio Marcocci; W W Chin; Samuel Refetoff
Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?
The Journal of clinical endocrinology and metabolism 1995;80(11):3246-56.
1995: Bernard M Bergmann; M A Gilliland; S Balzano; Samuel Refetoff; Allan Rechtschaffen
Sleep deprivation in the rat: XIX. Effects of thyroxine administration.
Sleep 1995;18(5):317-24.
1995: T Sunthornthepvarakui; M E Gottschalk; Y Hayashi; Samuel Refetoff
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.
The New England journal of medicine 1995;332(3):155-60.
1995: Roy E Weiss; T Sunthornthepvarakul; P Angkeow; D Marcus-Bagley; N Cox; C A Alper; Samuel Refetoff
Linkage of familial dysalbuminemic hyperthyroxinemia to the albumin gene in a large Amish kindred.
The Journal of clinical endocrinology and metabolism 1995;80(1):116-21.
1994: Y Hayashi; A M DePaoli; Charles F Burant; Samuel Refetoff
Expression of a thyroid hormone-responsive recombinant gene introduced into adult mice livers by replication-defective adenovirus can be regulated by endogenous thyroid hormone receptor.
The Journal of biological chemistry 1994;269(39):23872-5.
1994: Y Hayashi; T Sunthornthepvarakul; Samuel Refetoff
Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.
The Journal of clinical investigation 1994;94(2):607-15.
1994: T Sunthornthepvarakul; P Angkeow; Roy E Weiss; Y Hayashi; Samuel Refetoff
An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families.
Biochemical and biophysical research communications 1994;202(2):781-7.
1994: Roy E Weiss; Mark Stein; S C Duck; B Chyna; W Phillips; T O'Brien; L Gutermuth; Samuel Refetoff
Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor beta gene.
The Journal of clinical endocrinology and metabolism 1994;78(6):1525-8.
1994: Olivier Van Reeth; Jeppe Sturis; Maria M Byrne; J D Blackman; Mireille L'hermite-Balériaux; Rachel Leproult; C Oliner; Samuel Refetoff; F W Turek; Eve Van Cauter
Nocturnal exercise phase delays circadian rhythms of melatonin and thyrotropin secretion in normal men.
The American journal of physiology 1994;266(6 Pt 1):E964-74.
1994: Eve Van Cauter; Jeppe Sturis; Maria M Byrne; J D Blackman; Rachel Leproult; G Ofek; Mireille L'hermite-Balériaux; Samuel Refetoff; F W Turek; Olivier Van Reeth
Demonstration of rapid light-induced advances and delays of the human circadian clock using hormonal phase markers.
The American journal of physiology 1994;266(6 Pt 1):E953-63.
1994: Roy E Weiss; B Chyna; P Barton Duell; Y Hayashi; T Sunthornthepvarakul; Samuel Refetoff
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism 1994;78(5):1253-6.
1994: Samuel Refetoff
Resistance to thyroid hormone and its molecular basis.
Acta paediatrica Japonica; Overseas edition 1994;36(1):1-15.
1994: Samuel Refetoff
How clinical observations of a congenital disease can be translated in terms of molecular biology.
Perspectives in biology and medicine 1994;37(3):315-26.
1994: T Sunthornthepvarakul; Y Hayashi; Samuel Refetoff
Polymorphism of a variant human thyrotropin receptor (hTSHR) gene.
Thyroid : official journal of the American Thyroid Association 1994;4(2):147-9.
1994: Samuel Refetoff
Resistance to thyroid hormone: an historical overview.
Thyroid : official journal of the American Thyroid Association 1994;4(3):345-9.
1994: Samuel Refetoff; Roy E Weiss; J R Wing; David H Sarne; B Chyna; Y Hayashi
Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of the normal proline 453 with serine.
Thyroid : official journal of the American Thyroid Association 1994;4(3):249-54.
1994: Samuel Refetoff
Resistance to thyroid hormone.
Current therapy in endocrinology and metabolism 1994;5():117-9.
1993: Roy E Weiss; Mark Stein; B Trommer; Samuel Refetoff
Attention-deficit hyperactivity disorder and thyroid function.
The Journal of pediatrics 1993;123(4):539-45.
1993: Samuel Refetoff
Resistance to thyroid hormone.
Clinics in laboratory medicine 1993;13(3):563-81.
1993: Y Hayashi; Y Mori; Onno Eilard Janssen; T Sunthornthepvarakul; Roy E Weiss; K Takeda; M Weinberg; H Seo; Graeme I Bell; Samuel Refetoff
Human thyroxine-binding globulin gene: complete sequence and transcriptional regulation.
Molecular endocrinology (Baltimore, Md.) 1993;7(8):1049-60.
1993: Roy E Weiss; M Weinberg; Samuel Refetoff
Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.
The Journal of clinical investigation 1993;91(6):2408-15.
1993: Samuel Refetoff; Roy E Weiss; stephen usala
The syndromes of resistance to thyroid hormone.
Endocrine reviews 1993;14(3):348-99.
1993: Y Hayashi; Onno Eilard Janssen; Roy E Weiss; Y Murata; H Seo; Samuel Refetoff
The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.
The Journal of clinical endocrinology and metabolism 1993;76(1):64-9.
1993: Roy E Weiss; Claudio Marcocci; G Bruno-Bossio; Samuel Refetoff
Multiple genetic factors in the heterogeneity of thyroid hormone resistance.
The Journal of clinical endocrinology and metabolism 1993;76(1):257-9.
1993: Eve Van Cauter; Jeppe Sturis; Maria M Byrne; J D Blackman; Neal H Scherberg; Rachel Leproult; Samuel Refetoff; Olivier Van Reeth
Preliminary studies on the immediate phase-shifting effects of light and exercise on the human circadian clock.
Journal of biological rhythms 1993;8 Suppl():S99-108.
1992: R Bertenshaw; David H Sarne; J Tornari; M Weinberg; Samuel Refetoff
Sequencing of the variant thyroxine-binding globulin (TBG)-San Diego reveals two nucleotide substitutions.
Biochimica et biophysica acta 1992;1139(4):307-10.
1992: Onno Eilard Janssen; Samuel Refetoff
In vitro expression of thyroxine-binding globulin (TBG) variants. Impaired secretion of TBGPRO-227 but not TBGPRO-113.
The Journal of biological chemistry 1992;267(20):13998-4004.
1992: K Takeda; Roy E Weiss; Samuel Refetoff
Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.
The Journal of clinical endocrinology and metabolism 1992;74(4):712-9.
1992: K Takeda; A Sakurai; Leslie J DeGroot; Samuel Refetoff
Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.
The Journal of clinical endocrinology and metabolism 1992;74(1):49-55.
1992: Roy E Weiss; Samuel Refetoff
Thyroid hormone resistance.
Annual review of medicine 1992;43():363-75.
1991: P Li; Onno Eilard Janssen; K Takeda; R H Bertenshaw; Samuel Refetoff
Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene.
Metabolism: clinical and experimental 1991;40(11):1231-4.
1991: Gary F Lewis; C A Alessi; Jacqueline Imperial; Samuel Refetoff
Low serum free thyroxine index in ambulating elderly is due to a resetting of the threshold of thyrotropin feedback suppression.
The Journal of clinical endocrinology and metabolism 1991;73(4):843-9.
1991: Eve Van Cauter; J D Blackman; D Roland; Jean-Paul Spire; Samuel Refetoff; Kenneth S Polonsky
Modulation of glucose regulation and insulin secretion by circadian rhythmicity and sleep.
The Journal of clinical investigation 1991;88(3):934-42.
1991: Onno Eilard Janssen; K Takeda; Samuel Refetoff
Sequence of the variant thyroxine-binding globulin (TBG) in a Montreal family with partial TBG deficiency.
Human genetics 1991;87(2):119-22.
1991: J J Pilcher; Bernard M Bergmann; Samuel Refetoff; V S Fang; Allan Rechtschaffen
Sleep deprivation in the rat: XIII. The effect of hypothyroidism on sleep deprivation symptoms.
Sleep 1991;14(3):201-10.
1991: R Bertenshaw; K Takeda; Samuel Refetoff
Sequencing of the variant thyroxine-binding globulin (TBG)-Quebec reveals two nucleotide substitutions.
American journal of human genetics 1991;48(4):741-4.
1991: K Takeda; S Balzano; A Sakurai; Leslie J DeGroot; Samuel Refetoff
Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.
The Journal of clinical investigation 1991;87(2):496-502.
1991: H Harrison; K Miller; Carole Ober; Samuel Refetoff; M Dick; S Elias
Identification of a serum protein polymorphism via two-dimensional electrophoresis. Family and population studies in two genetically isolated groups: North American Hutterites and Australian aborigines.
American journal of human genetics 1991;48(2):362-9.
1990: A Sakurai; T Miyamoto; Samuel Refetoff; Leslie J DeGroot
Dominant negative transcriptional regulation by a mutant thyroid hormone receptor-beta in a family with generalized resistance to thyroid hormone.
Molecular endocrinology (Baltimore, Md.) 1990;4(12):1988-94.
1990: Roy E Weiss; S Balzano; Neal H Scherberg; Samuel Refetoff
Neonatal detection of generalized resistance to thyroid hormone.
JAMA : the journal of the American Medical Association 1990;264(17):2245-50.
1990: S Balzano; Bernard M Bergmann; M A Gilliland; J E Silva; Allan Rechtschaffen; Samuel Refetoff
Effect of total sleep deprivation on 5'-deiodinase activity of rat brown adipose tissue.
Endocrinology 1990;127(2):882-90.
1990: J J Pilcher; Bernard M Bergmann; V S Fang; Samuel Refetoff; Allan Rechtschaffen
Sleep deprivation in the rat: XI. The effect of guanethidine-induced sympathetic blockade on the sleep deprivation syndrome.
Sleep 1990;13(3):218-31.
1990: David H Sarne; S Sobieszczyk; K B Ain; Samuel Refetoff
Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression.
The Journal of clinical endocrinology and metabolism 1990;70(5):1305-11.
1990: M R Waltz; T N Pullman; K Takeda; P Sobieszczyk; Samuel Refetoff
Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American blacks.
Journal of endocrinological investigation 1990;13(4):343-9.
1990: Y Mori; K Takeda; M Charbonneau; Samuel Refetoff
Replacement of Leu227 by Pro in thyroxine-binding globulin (TBG) is associated with complete TBG deficiency in three of eight families with this inherited defect.
The Journal of clinical endocrinology and metabolism 1990;70(3):804-9.
1989: A Sakurai; K Takeda; K Ain; P Ceccarelli; A Nakai; S Seino; Graeme I Bell; Samuel Refetoff; Leslie J DeGroot
Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(22):8977-81.
1989: Samuel Refetoff
Inherited thyroxine-binding globulin abnormalities in man.
Endocrine reviews 1989;10(3):275-93.
1989: K Takeda; Y Mori; S Sobieszczyk; H Seo; M Dick; F Watson; Irwin L Flink; S Seino; Graeme I Bell; Samuel Refetoff
Sequence of the variant thyroxine-binding globulin of Australian aborigines. Only one of two amino acid replacements is responsible for its altered properties.
The Journal of clinical investigation 1989;83(4):1344-8.
1989: Y Mori; S Seino; K Takeda; Irwin L Flink; Y Murata; Graeme I Bell; Samuel Refetoff
A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule.
Molecular endocrinology (Baltimore, Md.) 1989;3(3):575-9.
1989: C A Everson; M A Gilliland; C A Kushida; J J Pilcher; V S Fang; Samuel Refetoff; Bernard M Bergmann; Allan Rechtschaffen
Sleep deprivation in the rat: IX. Recovery.
Sleep 1989;12(1):60-7.
1989: Bernard M Bergmann; C A Everson; C A Kushida; V S Fang; C A Leitch; DA Schoeller; Samuel Refetoff; Allan Rechtschaffen
Sleep deprivation in the rat: V. Energy use and mediation.
Sleep 1989;12(1):31-41.
1989: Samuel Refetoff
The syndrome of generalized resistance to thyroid hormone (GRTH).
Endocrine research 1989;15(4):717-43.
1989: David H Sarne; Samuel Refetoff; J C Nelson; L G Linarelli
A new inherited abnormality of thyroxine-binding globulin (TBG-San Diego) with decreased affinity for thyroxine and triiodothyronine.
The Journal of clinical endocrinology and metabolism 1989;68(1):114-9.
1988: David H Sarne; Samuel Refetoff
Normal cellular uptake of thyroxine from serum of patients with familial dysalbuminemic hyperthyroxinemia or elevated thyroxine-binding globulin.
The Journal of clinical endocrinology and metabolism 1988;67(6):1166-70.
1988: Y Mori; Samuel Refetoff; Irwin L Flink; M Charbonneau; Y Murata; H Seo; Eugene Morkin; J H Dussault
Detection of the thyroxine-binding globulin (TBG) gene in six unrelated families with complete TBG deficiency.
The Journal of clinical endocrinology and metabolism 1988;67(4):727-33.
1988: K B Ain; Samuel Refetoff
Relationship of oligosaccharide modification to the cause of serum thyroxine-binding globulin excess.
The Journal of clinical endocrinology and metabolism 1988;66(5):1037-43.
1988: David H Sarne; Samuel Refetoff; Robert L Rosenfield; J P Farriaux
Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration.
The Journal of clinical endocrinology and metabolism 1988;66(4):740-6.
1988: K B Ain; Samuel Refetoff; David H Sarne; Y Murata
Effect of estrogen on the synthesis and secretion of thyroxine-binding globulin by a human hepatoma cell line, Hep G2.
Molecular endocrinology (Baltimore, Md.) 1988;2(4):313-23.
1987: K B Ain; Y Mori; Samuel Refetoff
Reduced clearance rate of thyroxine-binding globulin (TBG) with increased sialylation: a mechanism for estrogen-induced elevation of serum TBG concentration.
The Journal of clinical endocrinology and metabolism 1987;65(4):689-96.