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Increased Anaplastic Lymphoma Kinase Activity Induces a Poorly Differentiated Thyroid Carcinoma in Mice.

Kohler H, Latteyer S, Hönes GS, Theurer S, Liao XH, Christoph S, Zwanziger D, Schulte JH, Kero J, Undeutsch H, Refetoff S, Schmid KW, Führer D, Moeller LC.

Thyroid. 2019 Oct;29(10):1438-1446. doi: 10.1089/thy.2018.0526. Epub 2019 Oct 8.


Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.

Fujisawa H, Gagné J, Dumitrescu AM, Refetoff S.

Thyroid. 2019 Oct;29(10):1518-1520. doi: 10.1089/thy.2019.0095. Epub 2019 Sep 20.


Interconnection between circadian clocks and thyroid function.

Ikegami K, Refetoff S, Van Cauter E, Yoshimura T.

Nat Rev Endocrinol. 2019 Oct;15(10):590-600. doi: 10.1038/s41574-019-0237-z. Epub 2019 Aug 12. Review.


Clinical recognition and evaluation of patients with inherited serum thyroid hormone-binding protein mutations.

Mimoto MS, Refetoff S.

J Endocrinol Invest. 2019 Jul 27. doi: 10.1007/s40618-019-01084-9. [Epub ahead of print] Review.


A Liver-Specific Thyromimetic, VK2809, Decreases Hepatosteatosis in Glycogen Storage Disease Type Ia.

Zhou J, Waskowicz LR, Lim A, Liao XH, Lian B, Masamune H, Refetoff S, Tran B, Koeberl DD, Yen PM.

Thyroid. 2019 Aug;29(8):1158-1167. doi: 10.1089/thy.2019.0007.


Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line.

Anselmo J, Scherberg NH, Dumitrescu AM, Refetoff S.

Thyroid. 2019 Jun;29(6):778-782. doi: 10.1089/thy.2019.0080. Epub 2019 May 9. Erratum in: Thyroid. 2019 Sep;29(9):1346.


Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families.

Watanabe Y, Bruellman RJ, Ebrhim RS, Abdullah MA, Dumitrescu AM, Refetoff S, Weiss RE.

Thyroid. 2019 Feb;29(2):302-304. doi: 10.1089/thy.2018.0295. Epub 2018 Dec 18.


Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.

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, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED; UK10K Consortium, Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S, Schoenmakers N.

JCI Insight. 2018 Oct 18;3(20). pii: 99631. doi: 10.1172/jci.insight.99631.


Human Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).

Pappa T, Refetoff S.

Methods Mol Biol. 2018;1801:225-240. doi: 10.1007/978-1-4939-7902-8_18. Review.


NFE2-Related Transcription Factor 2 Coordinates Antioxidant Defense with Thyroglobulin Production and Iodination in the Thyroid Gland.

Ziros PG, Habeos IG, 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, Rossich L, Thomasz L, Juvenal GJ, Refetoff S, Sykiotis GP.

Thyroid. 2018 Jun;28(6):780-798. doi: 10.1089/thy.2018.0018.


A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.

Watanabe Y, Sharwood E, Goodwin B, Creech MK, Hassan HY, Netea MG, Jaeger M, Dumitrescu A, Refetoff S, Huynh T, Weiss RE.

BMC Med Genet. 2018 May 2;19(1):69. doi: 10.1186/s12881-018-0588-7.


Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.

Mimoto MS, Karaca A, Scherberg N, Dumitrescu AM, Refetoff S.

Thyroid. 2018 Jun;28(6):811-814. doi: 10.1089/thy.2017.0564. Epub 2018 May 24.


13th International Workshop on Resistance to Thyroid Hormone and Thyroid Hormone Action.

Williams GR, Boelen A, Refetoff S.

Thyroid. 2018 Jun;28(6):690-691. doi: 10.1089/thy.2018.0173. Epub 2018 May 2. No abstract available.


Noncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo.

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, Rozman J, Gailus-Durner V, Fuchs H, Hrabe de Angelis M, Klein-Hitpass L, Köhrle J, Armstrong DL, Grøntved L, Bassett JHD, Williams GR, Refetoff S, Führer D, Moeller LC.

Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):E11323-E11332. doi: 10.1073/pnas.1706801115. Epub 2017 Dec 11.


GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation.

Kang HS, Kumar D, Liao G, Lichti-Kaiser K, Gerrish K, Liao XH, Refetoff S, Jothi R, Jetten AM.

J Clin Invest. 2017 Dec 1;127(12):4326-4337. doi: 10.1172/JCI94417. Epub 2017 Oct 30.



Lozanov B, Gorcheva D, Lozanov LB, Koleva V, Refetoff S.

Acta Endocrinol (Buchar). 2017 Oct-Dec;13(4):515-518. doi: 10.4183/aeb.2017.515.


Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.

Hermanns P, Kumorowicz-Czoch M, Grasberger H, Refetoff S, Pohlenz J.

Exp Clin Endocrinol Diabetes. 2018 Feb;126(2):85-90. doi: 10.1055/s-0043-119875. Epub 2017 Sep 27.


Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.

Pappa T, Anselmo J, Mamanasiri S, Dumitrescu AM, Weiss RE, Refetoff S.

J Clin Endocrinol Metab. 2017 Oct 1;102(10):3775-3782. doi: 10.1210/jc.2017-01251.


A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families.

Pappa T, Moeller LC, Edidin DV, Pannain S, Refetoff S.

Eur Thyroid J. 2017 Jul;6(3):138-142. doi: 10.1159/000455097. Epub 2017 Feb 2.


Oncogene-induced senescence and its evasion in a mouse model of thyroid neoplasia.

Bellelli R, Vitagliano D, Federico G, Marotta P, Tamburrino A, Salerno P, Paciello O, Papparella S, Knauf JA, Fagin JA, Refetoff S, Troncone G, Santoro M.

Mol Cell Endocrinol. 2018 Jan 15;460:24-35. doi: 10.1016/j.mce.2017.06.023. Epub 2017 Jun 23.


Resistance to thyrotropin.

Grasberger H, Refetoff S.

Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):183-194. doi: 10.1016/j.beem.2017.03.004. Epub 2017 Mar 30. Review.


An Essential Physiological Role for MCT8 in Bone in Male Mice.

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.

Endocrinology. 2017 Sep 1;158(9):3055-3066. doi: 10.1210/en.2017-00399.


Fetal Exposure to High Maternal Thyroid Hormone Levels Causes Central Resistance to Thyroid Hormone in Adult Humans and Mice.

Srichomkwun P, Anselmo J, Liao XH, Hönes GS, Moeller LC, Alonso-Sampedro M, Weiss RE, Dumitrescu AM, Refetoff S.

J Clin Endocrinol Metab. 2017 Sep 1;102(9):3234-3240. doi: 10.1210/jc.2017-00019.


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

Vatine GD, Al-Ahmad A, Barriga BK, Svendsen S, Salim A, Garcia L, Garcia VJ, Ho R, Yucer N, Qian T, Lim RG, Wu J, Thompson LM, Spivia WR, Chen Z, Van Eyk J, Palecek SP, Refetoff S, Shusta EV, Svendsen CN.

Cell Stem Cell. 2017 Jun 1;20(6):831-843.e5. doi: 10.1016/j.stem.2017.04.002. Epub 2017 May 16.


Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature.

Flamant F, Cheng SY, Hollenberg AN, Moeller LC, Samarut J, Wondisford FE, Yen PM, Refetoff S.

Endocrinology. 2017 Jul 1;158(7):2052-2057. doi: 10.1210/en.2017-00250.


Changes in Hepatic TRβ Protein Expression, Lipogenic Gene Expression, and Long-Chain Acylcarnitine Levels During Chronic Hyperthyroidism and Triiodothyronine Withdrawal in a Mouse Model.

Ohba K, Sinha RA, Singh BK, Iannucci LF, Zhou J, Kovalik JP, Liao XH, Refetoff S, Sng JCG, Leow MK, Yen PM.

Thyroid. 2017 Jun;27(6):852-860. doi: 10.1089/thy.2016.0456. Epub 2017 May 24.


TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.

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.

Endocrinology. 2017 Apr 1;158(4):815-830. doi: 10.1210/en.2016-1788.


A new TRβ mutation in resistance to thyroid hormone syndrome.

Neamţu C, Ţupea C, Păun D, Hoisescu A, Ghemigian A, Refetoff S, Sriphrapradang C.

Hormones (Athens). 2016 Oct;15(4):534-539. doi: 10.14310/horm.2002.1700.


Diagnostic Dilemma in Discordant Thyroid Function Tests Due to Thyroid Hormone Autoantibodies.

Srichomkwun P, Scherberg NH, Jakšić J, Refetoff S.

AACE Clin Case Rep. 2017 Winter;3(1):e22-e25. doi: 10.4158/EP151142.CR.


DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S.

Thyroid. 2017 Jan;27(1):129-131. doi: 10.1089/thy.2016.0469. Epub 2016 Dec 7.


A Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma.

Sriphrapradang C, Srichomkwun P, Refetoff S, Mamanasiri S.

Thyroid. 2016 Dec;26(12):1804-1806. Epub 2016 Oct 31.


Overexpression of Interleukin-4 in the Thyroid of Transgenic Mice Upregulates the Expression of Duox1 and the Anion Transporter Pendrin.

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.

Thyroid. 2016 Oct;26(10):1499-1512.


Adeno Associated Virus 9-Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice.

Iwayama H, Liao XH, Braun L, Bárez-López S, Kaspar B, Weiss RE, Dumitrescu AM, Guadaño-Ferraz A, Refetoff S.

Thyroid. 2016 Sep;26(9):1311-9. doi: 10.1089/thy.2016.0060. Epub 2016 Aug 23.


A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals.

Srichomkwun P, Admoni O, Refetoff S, de Vries L.

Horm Res Paediatr. 2016;86(2):137-142. Epub 2016 May 21.


Thyroid follicle development requires Smad1/5- and endothelial cell-dependent basement membrane assembly.

Villacorte M, Delmarcelle AS, Lernoux M, Bouquet M, Lemoine P, Bolsée J, Umans L, de Sousa Lopes SC, Van Der Smissen P, Sasaki T, Bommer G, Henriet P, Refetoff S, Lemaigre FP, Zwijsen A, Courtoy PJ, Pierreux CE.

Development. 2016 Jun 1;143(11):1958-70. doi: 10.1242/dev.134171. Epub 2016 Apr 11.


Aberrant Cerebellar Development in Mice Lacking Dual Oxidase Maturation Factors.

Amano I, Takatsuru Y, Toya S, Haijima A, Iwasaki T, Grasberger H, Refetoff S, Koibuchi N.

Thyroid. 2016 May;26(5):741-52. doi: 10.1089/thy.2015.0034. Epub 2016 Mar 23.


Desensitization and Incomplete Recovery of Hepatic Target Genes After Chronic Thyroid Hormone Treatment and Withdrawal in Male Adult Mice.

Ohba K, Leow MK, Singh BK, Sinha RA, Lesmana R, Liao XH, Ghosh S, Refetoff S, Sng JC, Yen PM.

Endocrinology. 2016 Apr;157(4):1660-72. doi: 10.1210/en.2015-1848. Epub 2016 Feb 11.


Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Rocca CJ, Liao XH, Refetoff S, Pierreux CE, Cherqui S, Courtoy PJ.

Endocrinology. 2016 Apr;157(4):1363-71. doi: 10.1210/en.2015-1762. Epub 2016 Jan 26.


Diiodothyropropionic acid (DITPA) cross-reacts with thyroid function assays on different immunoassay platforms.

Leung EK, Yi X, Refetoff S, Yeo KT.

Clin Chim Acta. 2016 Jan 30;453:203-4. doi: 10.1016/j.cca.2015.12.008. Epub 2015 Dec 10. No abstract available.


Inherited defects of thyroxine-binding proteins.

Pappa T, Ferrara AM, Refetoff S.

Best Pract Res Clin Endocrinol Metab. 2015 Oct;29(5):735-47. doi: 10.1016/j.beem.2015.09.002. Epub 2015 Sep 30. Review.


The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.

Ferrara AM, Liao XH, Ye H, Weiss RE, Dumitrescu AM, Refetoff S.

Endocrinology. 2015 Nov;156(11):3889-94. doi: 10.1210/en.2015-1234. Epub 2015 Aug 31.


A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.

Pappa T, Johannesen J, Scherberg N, Torrent M, Dumitrescu A, Refetoff S.

Thyroid. 2015 Aug;25(8):869-76. doi: 10.1089/thy.2015.0096. Epub 2015 Jun 15.


Thyroid Hormone Serum Transport Proteins.

Refetoff S.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA):, Inc.; 2000-.
2015 Jun 7.


Abnormal Thyroid Hormone Transport.

Refetoff S.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA):, Inc.; 2000-.
2015 Jul 15.


Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action.

Dumitrescu AM, Refetoff S.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA):, Inc.; 2000-.
2015 Aug 20.


A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Liao XH, Abid Y, Nevo N, Antignac C, Refetoff S, Cherqui S, Pierreux CE, Courtoy PJ.

Endocrinology. 2015 Jun;156(6):2349-64. doi: 10.1210/en.2014-1672. Epub 2015 Mar 26.


Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.

Tenenbaum-Rakover Y, Almashanu S, Hess O, Admoni O, Hag-Dahood Mahameed A, Schwartz N, Allon-Shalev S, Bercovich D, Refetoff S.

Thyroid. 2015 Mar;25(3):292-9. doi: 10.1089/thy.2014.0311. Epub 2015 Jan 28. Erratum in: Thyroid. 2015 Aug;25(8):977.


Tissue-specific posttranslational modification allows functional targeting of thyrotropin.

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.

Cell Rep. 2014 Nov 6;9(3):801-10. doi: 10.1016/j.celrep.2014.10.006. Epub 2014 Oct 30.


A novel mechanism of inherited TBG deficiency: mutation in a liver-specific enhancer.

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.

J Clin Endocrinol Metab. 2015 Jan;100(1):E173-81. doi: 10.1210/jc.2014-3490.


Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.

López-Espíndola D, Morales-Bastos C, Grijota-Martínez C, Liao XH, Lev D, Sugo E, Verge CF, Refetoff S, Bernal J, Guadaño-Ferraz A.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2799-804. doi: 10.1210/jc.2014-2162.

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