Samuel Refetoff - Publications

Affiliations: 
University of Chicago, Chicago, IL 
Area:
Genetics, Human Development, Neuroscience Biology

126 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Grieco G, Wang T, Delcorte O, Spourquet C, Janssens V, Strickaert A, Gaide Chevronnay H, Liao XH, Bilanges B, Refetoff S, Vanhaesebroeck B, Maenhaut C, Courtoy PJ, Pierreux CE. Vps34 PI 3-kinase controls thyroid hormone production by regulating thyroglobulin iodination, lysosomal proteolysis and tissue homeostasis. Thyroid : Official Journal of the American Thyroid Association. PMID 31650902 DOI: 10.1089/thy.2019.0182  0.44
2019 Kohler H, Latteyer S, Hoenes S, Theurer S, Liao XH, Christoph S, Zwanziger D, Schulte JH, Kero J, Undeutsch H, Refetoff S, Schmid KW, Fuehrer D, Moeller LC. Increased ALK activity induces a poorly differentiated thyroid carcinoma in mice. Thyroid : Official Journal of the American Thyroid Association. PMID 31526103 DOI: 10.1089/thy.2018.0526  0.44
2019 Fujisawa H, Gagné J, Dumitrescu AM, Refetoff S. Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene. Thyroid : Official Journal of the American Thyroid Association. PMID 31432759 DOI: 10.1089/thy.2019.0095  0.92
2019 Zhou J, Waskowicz LR, Lim A, Liao XH, Lian B, Masamune H, Refetoff S, Tran B, Koeberl DD, Yen PM. A liver-specific thyromimetic, VK2809, decreases hepatosteatosis in glycogen storage disease type Ia (GSD Ia). Thyroid : Official Journal of the American Thyroid Association. PMID 31337282 DOI: 10.1089/thy.2019.0007  0.44
2019 Anselmo JD, Scherberg N, Dumitrescu AM, Refetoff S. Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along Human Male Line. Thyroid : Official Journal of the American Thyroid Association. PMID 30938226 DOI: 10.1089/thy.2019.0080  0.92
2018 Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE. Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. Thyroid : Official Journal of the American Thyroid Association. PMID 30375286 DOI: 10.1089/thy.2018.0295  0.92
2018 Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, ... ... Refetoff S, et al. Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. Jci Insight. 3. PMID 30333321 DOI: 10.1172/jci.insight.99631  0.44
2018 Pappa T, Refetoff S. Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ). Methods in Molecular Biology (Clifton, N.J.). 1801: 225-240. PMID 29892828 DOI: 10.1007/978-1-4939-7902-8_18  0.32
2018 Ziros PG, Habeos I, Chartoumpekis DV, Ntalampyra E, Somm E, Renaud CO, Bongiovanni M, Trougakos IP, Yamamoto M, Kensler TW, Santisteban P, Carrasco N, Ris-Stalpers C, Amendola E, Liao XH, ... ... Refetoff S, et al. The NFE2-related transcription factor 2 (Nrf2) coordinates antioxidant defense with thyroglobulin production and iodination in the thyroid gland. Thyroid : Official Journal of the American Thyroid Association. PMID 29742982 DOI: 10.1089/thy.2018.0018  0.44
2018 Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S. Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests. Thyroid : Official Journal of the American Thyroid Association. PMID 29676214 DOI: 10.1089/thy.2017.0564  0.92
2017 Hönes GS, Rakov H, Logan J, Liao XH, Werbenko E, Pollard AS, Præstholm SM, Siersbæk MS, Rijntjes E, Gassen J, Latteyer S, Engels K, Strucksberg KH, Kleinbongard P, Zwanziger D, ... ... Refetoff S, et al. Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo. Proceedings of the National Academy of Sciences of the United States of America. PMID 29229863 DOI: 10.1073/pnas.1706801115  0.44
2017 Kang HS, Kumar D, Liao G, Lichti-Kaiser K, Gerrish K, Liao XH, Refetoff S, Jothi R, Jetten AM. GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation. The Journal of Clinical Investigation. PMID 29083325 DOI: 10.1172/JCI94417  0.44
2017 Pappa T, Anselmo J, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S. Prenatal diagnosis of resistance to thyroid hormone and its clinical implications. The Journal of Clinical Endocrinology and Metabolism. PMID 28938413 DOI: 10.1210/jc.2017-01251  0.92
2017 Pappa T, Moeller LC, Edidin DV, Pannain S, Refetoff S. A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families. European Thyroid Journal. 6: 138-142. PMID 28785540 DOI: 10.1159/000455097  0.44
2017 Leitch VD, Di Cosmo C, Liao XH, O'Boy S, Galliford TM, Evans H, Croucher PI, Boyde A, Dumitrescu A, Weiss RE, Refetoff S, Williams GR, Bassett JHD. An essential physiological role for MCT8 in bone in male mice. Endocrinology. PMID 28637283 DOI: 10.1210/en.2017-00399  0.44
2017 Srichomkwun P, Anselmo J, Liao XH, Hönes GS, Moeller LC, Alonso-Sampedro M, Weiss RE, Dumitrescu AM, Refetoff S. Fetal exposure to high maternal thyroid hormone (TH) levels causes central resistance to TH in adult humans and mice. The Journal of Clinical Endocrinology and Metabolism. PMID 28586435 DOI: 10.1210/jc.2017-00019  0.92
2017 Flamant F, Cheng SY, Hollenberg AN, Moeller LC, Samarut J, Wondisford FE, Yen PM, Refetoff S. Thyroid hormone signaling pathways. Time for a more precise nomenclature. Endocrinology. PMID 28472304 DOI: 10.1210/en.2017-00250  0.44
2017 Ohba K, Sinha RA, Leow MK, Iannucci LF, Singh BK, Zhou J, Kovalik JP, Liao XH, Refetoff S, Sng JCG, Yen PM. Changes in hepatic TRβ protein expression, lipogenic gene expression, and long chain acylcarnitine levels during chronic hyperthyroidism and T3 withdrawal in a mouse model. Thyroid : Official Journal of the American Thyroid Association. PMID 28457184 DOI: 10.1089/thy.2016.0456  0.44
2017 Turgeon MO, Silander TL, Doycheva D, Liao XH, Rigden M, Ongaro L, Zhou X, Joustra SD, Wit JM, Wade MG, Heuer H, Refetoff S, Bernard DJ. TRH action is impaired in pituitaries of male IGSF1-deficient mice. Endocrinology. PMID 28324000 DOI: 10.1210/en.2016-1788  0.44
2017 Srichomkwun P, Scherberg NH, Jakšić J, Refetoff S. Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies. Aace Clinical Case Reports. 3: e22-e25. PMID 28078322 DOI: 10.4158/EP151142.CR  0.44
2016 Neamţu C, Ţupea C, Păun D, Hoisescu A, Ghemigian A, Refetoff S, Sriphrapradang C. A new TRβ mutation in resistance to thyroid hormone syndrome. Hormones (Athens, Greece). 15: 534-539. PMID 28222413 DOI: 10.14310/horm.2002.1700  0.32
2016 Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S. DUOX2 gene mutation manifesting as resistance to thyrotropin (RTSH) phenotype. Thyroid : Official Journal of the American Thyroid Association. PMID 27821020 DOI: 10.1089/thy.2016.0469  0.44
2016 Sriphrapradang C, Srichomkwun P, Refetoff S, Mamanasiri S. A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma. Thyroid : Official Journal of the American Thyroid Association. PMID 27758132 DOI: 10.1089/thy.2016.0450  0.44
2016 Eskalli Z, Achouri Y, Hahn S, Many MC, Craps J, Refetoff S, Liao XH, Dumont JE, Van Sande J, Corvilain B, Miot F, De Deken X. Overexpression of IL-4 in the thyroid of transgenic mice upregulates the expression of Duox1 and the anion transporter pendrin. Thyroid : Official Journal of the American Thyroid Association. PMID 27599561 DOI: 10.1089/thy.2016.0106  0.44
2016 Iwayama H, Liao XH, Braun L, Bárez-López S, Kaspar B, Weiss R, Dumitrescu AM, Guadaño-Ferraz A, Refetoff S. Adeno associated virus 9-based gene therapy delivers a functional monocarboxylate transporter 8 (MCT8) which improves thyroid hormone availability to brain of Mct8 deficient mice. Thyroid : Official Journal of the American Thyroid Association. PMID 27432638 DOI: 10.1089/thy.2016.0060  0.44
2016 Srichomkwun P, Admoni O, Refetoff S, de Vries L. A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. Hormone Research in Paediatrics. PMID 27207603 DOI: 10.1159/000445891  0.44
2016 Ohba K, Khee-Shing Leow M, Singh BK, Sinha RA, Lesmana R, Liao XH, Ghosh S, Refetoff S, Ghee Sng JC, Yen PM. Desensitization and incomplete recovery of hepatic target genes after chronic thyroid hormone treatment and withdrawal in male adult mice. Endocrinology. en20151848. PMID 26866609 DOI: 10.1210/en.2015-1848  0.44
2015 Pappa T, Ferrara AM, Refetoff S. Inherited defects of thyroxine-binding proteins. Best Practice & Research. Clinical Endocrinology & Metabolism. 29: 735-47. PMID 26522458 DOI: 10.1016/j.beem.2015.09.002  0.44
2015 Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S. The thyroid hormone analogue DITPA ameliorates metabolic parameters of male mice with Mct8 deficiency. Endocrinology. en20151234. PMID 26322373 DOI: 10.1210/en.2015-1234  0.44
2015 Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S. A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications. Thyroid : Official Journal of the American Thyroid Association. 25: 869-76. PMID 25950606 DOI: 10.1089/thy.2015.0096  0.52
2015 Ferrara AM, Pappa T, Fu J, Brown CD, Peterson A, Moeller LC, Wyne K, White KP, Pluzhnikov A, Trubetskoy V, Nobrega M, Weiss RE, Dumitrescu AM, Refetoff S. A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer. The Journal of Clinical Endocrinology and Metabolism. 100: E173-81. PMID 25361180 DOI: 10.1210/jc.2014-3490  0.92
2015 Choudhary A, Sriphrapradang C, Refetoff S, Antal Z. Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading. Journal of Pediatric Endocrinology & Metabolism : Jpem. 28: 241-5. PMID 25153218 DOI: 10.1515/jpem-2014-0019  0.44
2014 Larsen CC, Karaviti LP, Seghers V, Weiss RE, Refetoff S, Dumitrescu AM. A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature. International Journal of Pediatric Endocrinology. 2014: 23. PMID 25873976 DOI: 10.1186/1687-9856-2014-23  0.92
2014 Ikegami K, Liao XH, Hoshino Y, Ono H, Ota W, Ito Y, Nishiwaki-Ohkawa T, Sato C, Kitajima K, Iigo M, Shigeyoshi Y, Yamada M, Murata Y, Refetoff S, Yoshimura T. Tissue-specific posttranslational modification allows functional targeting of thyrotropin. Cell Reports. 9: 801-10. PMID 25437536 DOI: 10.1016/j.celrep.2014.10.006  0.44
2014 López-Espíndola D, Morales-Bastos C, Grijota-Martínez C, Liao XH, Lev D, Sugo E, Verge CF, Refetoff S, Bernal J, Guadaño-Ferraz A. Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. The Journal of Clinical Endocrinology and Metabolism. 99: E2799-804. PMID 25222753 DOI: 10.1210/jc.2014-2162  0.44
2014 Ferrara AM, Liao XH, Gil-Ibáñez P, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S. Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice. Endocrinology. 155: 4088-93. PMID 25051435 DOI: 10.1210/en.2014-1085  0.44
2014 Champa D, Russo MA, Liao XH, Refetoff S, Ghossein RA, Di Cristofano A. Obatoclax overcomes resistance to cell death in aggressive thyroid carcinomas by countering Bcl2a1 and Mcl1 overexpression. Endocrine-Related Cancer. 21: 755-67. PMID 25012986 DOI: 10.1530/ERC-14-0268  0.44
2014 Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. European Thyroid Journal. 3: 7-9. PMID 24847459 DOI: 10.1159/000358180  0.92
2014 Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. The Journal of Clinical Endocrinology and Metabolism. 99: 768-70. PMID 24823702 DOI: 10.1210/jc.2013-3393  0.44
2014 Refetoff S, Bassett JH, Beck-Peccoz P, Bernal J, Brent G, Chatterjee K, De Groot LJ, Dumitrescu AM, Jameson JL, Kopp PA, Murata Y, Persani L, Samarut J, Weiss RE, Williams GR, et al. Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. Thyroid : Official Journal of the American Thyroid Association. 24: 407-9. PMID 24588711 DOI: 10.1089/thy.2013.3393.nomen  0.44
2014 Greenberg SM, Ferrara AM, Nicholas ES, Dumitrescu AM, Cody V, Weiss RE, Refetoff S. A novel mutation in the Albumin gene (R218S) causing familial dysalbuminemic hyperthyroxinemia in a family of Bangladeshi extraction. Thyroid : Official Journal of the American Thyroid Association. 24: 945-50. PMID 24494774 DOI: 10.1089/thy.2013.0540  0.44
2014 Bianco AC, Anderson G, Forrest D, Galton VA, Gereben B, Kim BW, Kopp PA, Liao XH, Obregon MJ, Peeters RP, Refetoff S, Sharlin DS, Simonides WS, Weiss RE, Williams GR, et al. American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models. Thyroid : Official Journal of the American Thyroid Association. 24: 88-168. PMID 24001133 DOI: 10.1089/thy.2013.0109  0.44
2013 Di Cosmo C, Liao XH, Ye H, Ferrara AM, Weiss RE, Refetoff S, Dumitrescu AM. Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels. Endocrinology. 154: 4885-95. PMID 24029243 DOI: 10.1210/en.2013-1150  0.44
2013 Fu J, Refetoff S, Dumitrescu AM. Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. Current Opinion in Endocrinology, Diabetes, and Obesity. 20: 434-40. PMID 23974772 DOI: 10.1097/01.med.0000432531.03233.ad  0.92
2013 Larsen CC, Dumitrescu A, Guerra-Argüero LM, Gállego-Suárez C, Vazquez-Mellado A, Vinogradova M, Fletterick R, Refetoff S, Weiss RE. Incidental identification of a thyroid hormone receptor beta (THRB) gene variant in a family with autoimmune thyroid disease Thyroid. 23: 1638-1643. PMID 23806029 DOI: 10.1089/thy.2013.0174  0.44
2013 Ferrara AM, Liao XH, Gil-Ibáñez P, Marcinkowski T, Bernal J, Weiss RE, Dumitrescu AM, Refetoff S. Changes in thyroid status during perinatal development of MCT8-deficient male mice. Endocrinology. 154: 2533-41. PMID 23696569 DOI: 10.1210/en.2012-2031  0.44
2013 Ferrara AM, Cakir M, Henry PH, Refetoff S. Coexistence of THRB and TBG gene mutations in a Turkish family. The Journal of Clinical Endocrinology and Metabolism. 98: E1148-51. PMID 23633200 DOI: 10.1210/jc.2013-1413  0.44
2013 Ünlütürk U, Sriphrapradang C, Erdoğan MF, Emral R, Güldiken S, Refetoff S, Güllü S. Management of differentiated thyroid cancer in the presence of resistance to thyroid hormone and TSH-secreting adenomas: a report of four cases and review of the literature. The Journal of Clinical Endocrinology and Metabolism. 98: 2210-7. PMID 23553855 DOI: 10.1210/jc.2012-4142  0.32
2013 Hermanns P, Refetoff S, Sriphrapradang C, Pohlenz J, Okamato J, Slyper L, Slyper AH. 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. 26: 119-23. PMID 23457313 DOI: 10.1515/jpem-2012-0287  0.32
2013 Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochimica Et Biophysica Acta. 1830: 3987-4003. PMID 22986150 DOI: 10.1016/j.bbagen.2012.08.005  0.92
2012 Antonica F, Kasprzyk DF, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S. Generation of functional thyroid from embryonic stem cells. Nature. 491: 66-71. PMID 23051751 DOI: 10.1038/nature11525  0.44
2012 Chung S, Liao XH, Di Cosmo C, Van Sande J, Wang Z, Refetoff S, Civelli O. Disruption of the melanin-concentrating hormone receptor 1 (MCH1R) affects thyroid function. Endocrinology. 153: 6145-54. PMID 23024261 DOI: 10.1210/en.2011-1435  0.44
2012 Verge CF, Konrad D, Cohen M, Di Cosmo C, Dumitrescu AM, Marcinkowski T, Hameed S, Hamilton J, Weiss RE, Refetoff S. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. The Journal of Clinical Endocrinology and Metabolism. 97: 4515-23. PMID 22993035 DOI: 10.1210/jc.2012-2556  0.44
2012 Ozaki T, Matsubara T, Seo D, Okamoto M, Nagashima K, Sasaki Y, Hayase S, Murata T, Liao XH, Hanson J, Rodriguez-Canales J, Thorgeirsson SS, Kakudo K, Refetoff S, Kimura S. Thyroid regeneration: characterization of clear cells after partial thyroidectomy. Endocrinology. 153: 2514-25. PMID 22454152 DOI: 10.1210/en.2011-1365  0.44
2012 Ferrara AM, Onigata K, Ercan O, Woodhead H, Weiss RE, Refetoff S. 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. 97: 1328-36. PMID 22319036 DOI: 10.1210/jc.2011-2642  0.44
2012 Sriphrapradang C, German A, Dumitrescu AM, Refetoff S. Consecutive mutational events in a TSHR allele of Arab families with resistance to thyroid stimulating hormone. Thyroid : Official Journal of the American Thyroid Association. 22: 252-7. PMID 22313426 DOI: 10.1089/thy.2011.0402  0.92
2012 Grasberger H, De Deken X, Mayo OB, Raad H, Weiss M, Liao XH, Refetoff S. Mice deficient in dual oxidase maturation factors are severely hypothyroid. Molecular Endocrinology (Baltimore, Md.). 26: 481-92. PMID 22301785 DOI: 10.1210/me.2011-1320  0.44
2012 Ciric I, Zhao JC, Du H, Findling JW, Molitch ME, Weiss RE, Refetoff S, Kerr WD, Meyer J. Transsphenoidal surgery for Cushing disease: experience with 136 patients. Neurosurgery. 70: 70-80; discussion 80. PMID 21772221 DOI: 10.1227/NEU.0b013e31822dda2c  0.44
2011 Plateroti M, Bernal J, Refetoff S, Sachs L. Thyroid hormones and their receptors: from development to disease. Journal of Thyroid Research. 2011: 284737. PMID 22570805 DOI: 10.4061/2011/284737  0.44
2011 Antico Arciuch VG, Russo MA, Dima M, Kang KS, Dasrath F, Liao XH, Refetoff S, Montagna C, Di Cristofano A. Thyrocyte-specific inactivation of p53 and Pten results in anaplastic thyroid carcinomas faithfully recapitulating human tumors. Oncotarget. 2: 1109-26. PMID 22190384 DOI: 10.18632/oncotarget.380  0.44
2011 Chakravarty D, Santos E, Ryder M, Knauf JA, Liao XH, West BL, Bollag G, Kolesnick R, Thin TH, Rosen N, Zanzonico P, Larson SM, Refetoff S, Ghossein R, Fagin JA. Small-molecule MAPK inhibitors restore radioiodine incorporation in mouse thyroid cancers with conditional BRAF activation. The Journal of Clinical Investigation. 121: 4700-11. PMID 22105174 DOI: 10.1172/JCI46382  0.44
2011 Barca-Mayo O, Liao XH, DiCosmo C, Dumitrescu A, Moreno-Vinasco L, Wade MS, Sammani S, Mirzapoiazova T, Garcia JG, Refetoff S, Weiss RE. 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. 108: E1321-9. PMID 22065740 DOI: 10.1073/pnas.1109926108  0.44
2011 Dumitrescu AM, Refetoff S. Inherited defects of thyroid hormone metabolism. Annales D'Endocrinologie. 72: 95-8. PMID 21511232 DOI: 10.1016/j.ando.2011.03.011  0.92
2011 Sriphrapradang C, Tenenbaum-Rakover Y, Weiss M, Barkoff MS, Admoni O, Kawthar D, Caltabiano G, Pardo L, Dumitrescu AM, Refetoff S. 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. 96: E1001-6. PMID 21490078 DOI: 10.1210/jc.2011-0127  0.92
2011 Hulur I, Hermanns P, Nestoris C, Heger S, Refetoff S, Pohlenz J, Grasberger H. 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. 96: E841-5. PMID 21367925 DOI: 10.1210/jc.2010-2321  0.44
2011 Barca-Mayo O, Liao XH, Alonso M, Di Cosmo C, Hernandez A, Refetoff S, Weiss RE. Thyroid hormone receptor α and regulation of type 3 deiodinase. Molecular Endocrinology (Baltimore, Md.). 25: 575-83. PMID 21292823 DOI: 10.1210/me.2010-0213  0.44
2011 Liao XH, Di Cosmo C, Dumitrescu AM, Hernandez A, Van Sande J, St Germain DL, Weiss RE, Galton VA, Refetoff S. Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. Endocrinology. 152: 1180-91. PMID 21285310 DOI: 10.1210/en.2010-0900  0.44
2011 Franco AT, Malaguarnera R, Refetoff S, Liao XH, Lundsmith E, Kimura S, Pritchard C, Marais R, Davies TF, Weinstein LS, Chen M, Rosen N, Ghossein R, Knauf JA, Fagin JA. 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. 108: 1615-1620. PMID 21220306 DOI: 10.1073/pnas.1015557108  0.44
2011 Moeller LC, Haselhorst NE, Dumitrescu AM, Cao X, Seo H, Refetoff S, Mann K, Janssen OE. 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. 119: 81-5. PMID 20827662 DOI: 10.1055/s-0030-1262860  0.92
2010 Di Cosmo C, Liao XH, Dumitrescu AM, Philp NJ, Weiss RE, Refetoff S. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. The Journal of Clinical Investigation. 120: 3377-88. PMID 20679730 DOI: 10.1172/JCI42113  0.44
2010 Weiss RE, Dumitrescu A, Refetoff S. Approach to the patient with resistance to thyroid hormone and pregnancy. The Journal of Clinical Endocrinology and Metabolism. 95: 3094-102. PMID 20610605 DOI: 10.1210/jc.2010-0409  0.44
2010 Barkoff MS, Kocherginsky M, Anselmo J, Weiss RE, Refetoff S. Autoimmunity in patients with resistance to thyroid hormone. The Journal of Clinical Endocrinology and Metabolism. 95: 3189-93. PMID 20444926 DOI: 10.1210/jc.2009-2179  0.44
2010 Wang D, Xia X, Weiss RE, Refetoff S, Yen PM. Distinct and histone-specific modifications mediate positive versus negative transcriptional regulation of TSHalpha promoter. Plos One. 5: e9853. PMID 20352046 DOI: 10.1371/journal.pone.0009853  0.44
2010 Morte B, Ceballos A, Diez D, Grijota-Martínez C, Dumitrescu AM, Di Cosmo C, Galton VA, Refetoff S, Bernal J. 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. Endocrinology. 151: 2381-7. PMID 20211971 DOI: 10.1210/en.2009-0944  0.92
2010 Gika AD, Siddiqui A, Hulse AJ, Edward S, Fallon P, McEntagart ME, Jan W, Josifova D, Lerman-Sagie T, Drummond J, Thompson E, Refetoff S, Bönnemann CG, Jungbluth H. White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Developmental Medicine and Child Neurology. 52: 475-82. PMID 19811520 DOI: 10.1111/j.1469-8749.2009.03471.x  0.44
2010 Dumitrescu AM, Di Cosmo C, Liao XH, Weiss RE, Refetoff S. The syndrome of inherited partial SBP2 deficiency in humans. Antioxidants & Redox Signaling. 12: 905-20. PMID 19769464 DOI: 10.1089/ars.2009.2892  0.44
2009 Di Cosmo C, McLellan N, Liao XH, Khanna KK, Weiss RE, Papp L, Refetoff S. Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). The Journal of Clinical Endocrinology and Metabolism. 94: 4003-9. PMID 19602558 DOI: 10.1210/jc.2009-0686  0.44
2009 Di Cosmo C, Liao XH, Dumitrescu AM, Weiss RE, Refetoff S. A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. Endocrinology. 150: 4450-8. PMID 19497976 DOI: 10.1210/en.2009-0209  0.44
2009 Moeller LC, Wardrip C, Niekrasz M, Refetoff S, Weiss RE. 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. 19: 639-44. PMID 19445627 DOI: 10.1089/thy.2008.0293  0.44
2009 Alonso M, Goodwin C, Liao X, Ortiga-Carvalho T, Machado DS, Wondisford FE, Refetoff S, Weiss RE. 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. 150: 3927-34. PMID 19406944 DOI: 10.1210/en.2009-0093  0.44
2009 Miller KA, Yeager N, Baker K, Liao XH, Refetoff S, Di Cristofano A. Oncogenic Kras requires simultaneous PI3K signaling to induce ERK activation and transform thyroid epithelial cells in vivo. Cancer Research. 69: 3689-94. PMID 19351816 DOI: 10.1158/0008-5472.CAN-09-0024  0.44
2009 Schomburg L, Dumitrescu AM, Liao XH, Bin-Abbas B, Hoeflich J, Köhrle J, Refetoff S. Selenium supplementation fails to correct the selenoprotein synthesis defect in subjects with SBP2 gene mutations. Thyroid : Official Journal of the American Thyroid Association. 19: 277-81. PMID 19265499 DOI: 10.1089/thy.2008.0397  0.92
2009 Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, Ringkananont U, Montanelli L, Barkoff MS, Dahood AM, Refetoff S. 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. 94: 1706-12. PMID 19240155 DOI: 10.1210/jc.2008-1938  0.32
2009 Kohn B, Grasberger H, Lam LL, Ferrara AM, Refetoff S. 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. 19: 187-91. PMID 19191749 DOI: 10.1089/thy.2008.0302  0.44
2009 Ceballos A, Belinchon MM, Sanchez-Mendoza E, Grijota-Martinez C, Dumitrescu AM, Refetoff S, Morte B, Bernal J. Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. Endocrinology. 150: 2491-6. PMID 19147674 DOI: 10.1210/en.2008-1616  0.92
2008 Papadimitriou A, Dumitrescu AM, Papavasiliou A, Fretzayas A, Nicolaidou P, Refetoff S. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics. 121: e199-202. PMID 18166539 DOI: 10.1542/peds.2007-1247  0.44
2008 Bassett JH, Williams AJ, Murphy E, Boyde A, Howell PG, Swinhoe R, Archanco M, Flamant F, Samarut J, Costagliola S, Vassart G, Weiss RE, Refetoff S, Williams GR. A lack of thyroid hormones rather than excess thyrotropin causes abnormal skeletal development in hypothyroidism. Molecular Endocrinology (Baltimore, Md.). 22: 501-12. PMID 17932107 DOI: 10.1210/me.2007-0221  0.44
2007 Hernandez A, Martinez ME, Liao XH, Van Sande J, Refetoff S, Galton VA, St Germain DL. Type 3 deiodinase deficiency results in functional abnormalities at multiple levels of the thyroid axis. Endocrinology. 148: 5680-7. PMID 17823249 DOI: 10.1210/en.2007-0652  0.44
2007 Alonso M, Goodwin C, Liao X, Page D, Refetoff S, Weiss RE. Effects of maternal levels of thyroid hormone (TH) on the hypothalamus-pituitary-thyroid set point: studies in TH receptor beta knockout mice. Endocrinology. 148: 5305-12. PMID 17690164 DOI: 10.1210/en.2007-0677  0.44
2007 Dumitrescu AM, Refetoff S. Novel biological and clinical aspects of thyroid hormone metabolism. Endocrine Development. 10: 127-39. PMID 17684394 DOI: 10.1159/0000106824  0.92
2007 Moeller LC, Alonso M, Liao X, Broach V, Dumitrescu A, Van Sande J, Montanelli L, Skjei S, Goodwin C, Grasberger H, Refetoff S, Weiss RE. Pituitary-thyroid setpoint and thyrotropin receptor expression in consomic rats. Endocrinology. 148: 4727-33. PMID 17640981 DOI: 10.1210/en.2007-0236  0.44
2007 Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Practice & Research. Clinical Endocrinology & Metabolism. 21: 277-305. PMID 17574009 DOI: 10.1016/j.beem.2007.03.005  0.92
2007 Grasberger H, Van Sande J, Hag-Dahood Mahameed A, Tenenbaum-Rakover Y, Refetoff S. 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. 92: 2816-20. PMID 17456567 DOI: 10.1210/jc.2007-0366  0.32
2007 Tenenbaum-Rakover Y, Mamanasiri S, Ris-Stalpers C, German A, Sack J, Allon-Shalev S, Pohlenz J, Refetoff S. Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. Clinical Endocrinology. 66: 695-702. PMID 17381485 DOI: 10.1111/j.1365-2265.2007.02804.x  0.44
2006 Flamant F, Baxter JD, Forrest D, Refetoff S, Samuels H, Scanlan TS, Vennström B, Samarut J. International union of pharmacology. LIX. The pharmacology and classification of the nuclear receptor superfamily: Thyroid hormone receptors Pharmacological Reviews. 58: 705-711. PMID 17132849 DOI: 10.1124/pr.58.4.3  0.44
2006 Moeller LC, Cao X, Dumitrescu AM, Seo H, Refetoff S. 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. 4: e020. PMID 16862226 DOI: 10.1621/nrs.04020  0.92
2006 Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S. Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone. The Journal of Clinical Endocrinology and Metabolism. 91: 3471-7. PMID 16804041 DOI: 10.1210/jc.2006-0727  0.44
2006 Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology. 147: 4036-43. PMID 16709608 DOI: 10.1210/en.2006-0390  0.44
2006 Wu SY, Cohen RN, Simsek E, Senses DA, Yar NE, Grasberger H, Noel J, Refetoff S, Weiss RE. 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. 91: 1887-95. PMID 16464943 DOI: 10.1210/jc.2005-2428  0.44
2006 Ringkananont U, Van Durme J, Montanelli L, Ugrasbul F, Yu YM, Weiss RE, Refetoff S, Grasberger H. 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.). 20: 893-903. PMID 16339276 DOI: 10.1210/me.2005-0339  0.44
2006 Nikrodhanond AA, Ortiga-Carvalho TM, Shibusawa N, Hashimoto K, Liao XH, Refetoff S, Yamada M, Mori M, Wondisford FE. Dominant role of thyrotropin-releasing hormone in the hypothalamic-pituitary-thyroid axis. The Journal of Biological Chemistry. 281: 5000-7. PMID 16339138 DOI: 10.1074/jbc.M511530200  0.44
2005 Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nature Genetics. 37: 1247-52. PMID 16228000 DOI: 10.1038/ng1654  0.44
2005 Grasberger H, Vaxillaire M, Pannain S, Beck JC, Mimouni-Bloch A, Vatin V, Vassart G, Froguel P, Refetoff S. Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1 Human Genetics. 118: 348-355. PMID 16189712 DOI: 10.1007/s00439-005-0036-6  0.44
2005 Ortiga-Carvalho TM, Shibusawa N, Nikrodhanond A, Oliveira KJ, Machado DS, Liao XH, Cohen RN, Refetoff S, Wondisford FE. Negative regulation by thyroid hormone receptor requires an intact coactivator-binding surface. The Journal of Clinical Investigation. 115: 2517-23. PMID 16100573 DOI: 10.1172/JCI24109  0.44
2005 Wu SY, Sadow PM, Refetoff S, Weiss RE. 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. 146: 85-94. PMID 16099238 DOI: 10.1016/j.lab.2005.04.005  0.44
2005 Moeller LC, Dumitrescu AM, Refetoff S. Cytosolic action of thyroid hormone leads to induction of hypoxia-inducible factor-1alpha and glycolytic genes. Molecular Endocrinology (Baltimore, Md.). 19: 2955-63. PMID 16051672 DOI: 10.1210/me.2004-0542  0.92
2005 Knauf JA, Ma X, Smith EP, Zhang L, Mitsutake N, Liao XH, Refetoff S, Nikiforov YE, Fagin JA. Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Research. 65: 4238-45. PMID 15899815 DOI: 10.1158/0008-5472.CAN-05-0047  0.44
2005 Grasberger H, Mimouni-Bloch A, Vantyghem MC, van Vliet G, Abramowicz M, Metzger DL, Abdullatif H, Rydlewski C, Macchia PE, Scherberg NH, van Sande J, Mimouni M, Weiss RE, Vassart G, Refetoff S. 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. 90: 4025-34. PMID 15870119 DOI: 10.1210/jc.2005-0572  0.44
2005 Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. Journal of Neurology. 252: 663-6. PMID 15834651 DOI: 10.1007/s00415-005-0713-3  0.44
2005 Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S. Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. Molecular Endocrinology (Baltimore, Md.). 19: 1779-91. PMID 15718293 DOI: 10.1210/me.2004-0426  0.44
2005 Lado-Abeal J, Dumitrescu AM, Liao XH, Cohen RN, Pohlenz J, Weiss RE, Lebrethon MC, Verloes A, Refetoff S. 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. 90: 1760-7. PMID 15598685 DOI: 10.1210/jc.2004-1488  0.44
2005 Moeller LC, Dumitrescu AM, Walker RL, Meltzer PS, Refetoff S. Thyroid hormone responsive genes in cultured human fibroblasts. The Journal of Clinical Endocrinology and Metabolism. 90: 936-43. PMID 15507505 DOI: 10.1210/jc.2004-1768  0.44
2005 Cao X, Kambe F, Moeller LC, Refetoff S, Seo H. 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.). 19: 102-12. PMID 15388791 DOI: 10.1210/me.2004-0093  0.44
2004 Kim J, Reutrakul S, Davis DB, Kaplan EL, Refetoff S. Multiple endocrine neoplasia 2A syndrome presenting as peripartum cardiomyopathy due to catecholamine excess. European Journal of Endocrinology / European Federation of Endocrine Societies. 151: 771-7. PMID 15588245 DOI: 10.1530/eje.0.1510771  0.44
2004 Anselmo J, Cao D, Karrison T, Weiss RE, Refetoff S. Fetal loss associated with excess thyroid hormone exposure. Jama. 292: 691-5. PMID 15304465 DOI: 10.1001/jama.292.6.691  0.44
2004 Bereket A, Liao XH, Turoglu T, Aribal E, Refetoff S. 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. 17: 1021-9. PMID 15301052  0.44
2004 Borck G, Topaloglu AK, Korsch E, Martiné U, Wildhardt G, Onenli-Mungan N, Yuksel B, Aumann U, Koch G, Ozer G, Pfäffle R, Scherberg NH, Refetoff S, Pohlenz J. 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. 89: 4136-41. PMID 15292359 DOI: 10.1210/jc.2004-0494  0.44
2004 Reutrakul S, Hathout EH, Janner D, Hara M, Donfack J, Bass J, Refetoff S. Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance. Thyroid : Official Journal of the American Thyroid Association. 14: 311-9. PMID 15142366 DOI: 10.1089/105072504323030988  0.44
2004 Fingerhut A, Reutrakul S, Knuedeler SD, Moeller LC, Greenlee C, Refetoff S, Janssen OE. Partial deficiency of thyroxine-binding globulin-Allentown is due to a mutation in the signal peptide. The Journal of Clinical Endocrinology and Metabolism. 89: 2477-83. PMID 15126580 DOI: 10.1210/jc.2003-031613  0.44
2004 Anselmo J, Refetoff S. 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. 14: 71-4. PMID 15009917 DOI: 10.1089/105072504322783876  0.44
2004 Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. American Journal of Human Genetics. 74: 168-75. PMID 14661163 DOI: 10.1086/380999  0.44
2003 Narendran P, Lado-Abeal J, Moeller LC, Refetoff S. Partial thyroxine-binding globulin (TBG) deficiency in a family with no detectable mutation of the TBG gene. Clinical Endocrinology. 59: 824-5. PMID 14974930 DOI: 10.1046/j.1365-2265.2003.01924.x  0.44
2003 Shibusawa N, Hashimoto K, Nikrodhanond AA, Liberman MC, Applebury ML, Liao XH, Robbins JT, Refetoff S, Cohen RN, Wondisford FE. Thyroid hormone action in the absence of thyroid hormone receptor DNA-binding in vivo. The Journal of Clinical Investigation. 112: 588-97. PMID 12925699 DOI: 10.1172/JCI18377  0.44
2003 Moeller LC, Kimura S, Kusakabe T, Liao XH, Van Sande J, Refetoff S. Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Molecular Endocrinology (Baltimore, Md.). 17: 2295-302. PMID 12907760 DOI: 10.1210/me.2003-0175  0.44
2003 Yen PM, Feng X, Flamant F, Chen Y, Walker RL, Weiss RE, Chassande O, Samarut J, Refetoff S, Meltzer PS. Effects of ligand and thyroid hormone receptor isoforms on hepatic gene expression profiles of thyroid hormone receptor knockout mice. Embo Reports. 4: 581-7. PMID 12776178 DOI: 10.1038/sj.embor.embor862  0.44
2003 Matalon ST, Blank M, Levy Y, Carp HJ, Arad A, Burek L, Grunebaum E, Sherer Y, Ornoy A, Refetoff S, Weiss RE, Rose NR, Shoenfeld Y. The pathogenic role of anti-thyroglobulin antibody on pregnancy: evidence from an active immunization model in mice. Human Reproduction (Oxford, England). 18: 1094-9. PMID 12721190  0.44
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