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Items: 1 to 20 of 86

1.
Effectiveness and safety of Triac in children and adults with MCT8 deficiency: an international, multicentre, single group, open-label, phase 2 trial
Stefan Groeneweg, Prof Robin P. Peeters, Carla Moran, Athanasia Stoupa, Françoise Auriol, Davide Tonduti, Alice Dica, Laura Paone, Klara Rozenkova, Jana Malikova, Adri van der Walt, Irenaeus F.M. de Coo, Anne McGowan, Greta Lyons, Femke K. Aarsen, Diana Barca, Ingrid. M. van Beynum, Marieke M. van der Knoop, Jurgen Jansen, Martien Manshande, Roelineke J. Lunsing, Stan Nowak, Corstiaan A. den Uil, Prof M. Carola Zillikens, Frank E. Visser, Paul Vrijmoeth, Marie Claire Y. de Wit, Nicole I. Wolf, Angelique Zandstra, Gautam Ambegaonkar, Yogen Singh, Prof Yolanda B. de Rijke, Marco Medici, Prof Enrico S. Bertini, Sylvia Depoorter, Prof Jan Lebl, Marco Cappa, Prof Linda De Meirleir, Prof Heiko Krude, Prof Dana Craiu, Federica Zibordi, Isabelle Oliver Petit, Prof Michel Polak, Krishna Chatterjee, Prof Theo J. Visser, W. Edward Visser
Lancet Diabetes Endocrinol. Author manuscript; available in PMC 2021 Nov 8.
Published in final edited form as: Lancet Diabetes Endocrinol. 2019 Sep 1; 7(9): 695–706. Published online 2019 Jul 31. doi: 10.1016/S2213-8587(19)30155-X
PMCID:
PMC7611958
AbstractArticlePDF–1.0M
2.
A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance
Manassawee Korwutthikulrangsri, Chrysoula Dosiou, Alexandra M. Dumitrescu, Samuel Refetoff
Eur Thyroid J. 2019 Dec; 8(6): 293–297. Published online 2019 Oct 30. doi: 10.1159/000503860
PMCID:
PMC6944928
AbstractArticlePDF–349K
3.
Reduced Sensitivity to Thyroid Hormone as a Transgenerational Epigenetic Marker Transmitted Along the Human Male Line
João Anselmo, Neal H. Scherberg, Alexandra M. Dumitrescu, Samuel Refetoff
Thyroid. 2019 Jun 1; 29(6): 778–782. Published online 2019 Jun 3. doi: 10.1089/thy.2019.0080
Correction in:
Thyroid. 2019 Sep 1; 29(9): 1346.
PMCID:
PMC6588120
AbstractArticlePDF–574K
4.
Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature
Frédéric Flamant, Sheue-Yann Cheng, Anthony N. Hollenberg, Lars C. Moeller, Jacques Samarut, Fredric E. Wondisford, Paul M. Yen, Samuel Refetoff
Endocrinology. 2017 Jul 1; 158(7): 2052–2057. Published online 2017 May 1. doi: 10.1210/en.2017-00250
PMCID:
PMC6283428
AbstractArticle
5.
A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy
Gönül Çatli, Haruki Fujisawa, Özgür Kirbiyik, Mizuho S. Mimoto, Pinar Gençpinar, Taha Reşid Özdemir, Bumin Nuri Dündar, Alexandra M. Dumitrescu
Thyroid. 2018 Sep 1; 28(9): 1221–1223. Published online 2018 Sep 11. doi: 10.1089/thy.2018.0015
PMCID:
PMC6154453
AbstractArticlePDF–187K
6.
Resistance to Thyroid Hormone due to a mutation in thyroid hormone receptor a1 and the a2 variant protein
Carla Moran, Maura Agostini, W. Edward Visser, Erik Schoenmakers, Nadia Schoenmakers, Amaka C. Offiah, Ken Poole, Odelia Rajanayagam, Greta Lyons, David Halsall, Mark Gurnell, Dionisios Chrysis, Alexandra Efthymiadou, Charles Buchanan, Simon Aylwin, Krishna Chatterjee
Lancet Diabetes Endocrinol. Author manuscript; available in PMC 2018 Jun 6.
Published in final edited form as: Lancet Diabetes Endocrinol. 2014 Aug; 2(8): 619–626. Published online 2014 Jun 23. doi: 10.1016/S2213-8587(14)70111-1
PMCID:
PMC5989926
AbstractArticlePDF–1.3M
7.
White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene
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
Dev Med Child Neurol. Author manuscript; available in PMC 2018 Feb 6.
Published in final edited form as: Dev Med Child Neurol. 2010 May; 52(5): 475–482. Published online 2009 Oct 7. doi: 10.1111/j.1469-8749.2009.03471.x
PMCID:
PMC5800746
AbstractArticlePDF–973K
8.
Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency
Jiao Fu, Haruki Fujisawa, Benjamin Follman, Xiao-Hui Liao, Alexandra M. Dumitrescu
Endocrinology. 2017 Dec 1; 158(12): 4317–4330. Published online 2017 Sep 28. doi: 10.1210/en.2017-00618
PMCID:
PMC5711384
AbstractArticle
9.
Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination
Jae Young Lee, Min Joung Kim, Devy Deliyanti, Michael F. Azari, Fernando Rossello, Adam Costin, Georg Ramm, Edouard G. Stanley, Andrew G. Elefanty, Jennifer L. Wilkinson-Berka, Steven Petratos
EBioMedicine. 2017 Nov; 25: 122–135. Published online 2017 Oct 19. doi: 10.1016/j.ebiom.2017.10.016
PMCID:
PMC5704066
AbstractArticlePDF–2.7M
10.
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications
Theodora Pappa, João Anselmo, Sunnee Mamanasiri, Alexandra M. Dumitrescu, Roy E. Weiss, Samuel Refetoff
J Clin Endocrinol Metab. 2017 Oct 1; 102(10): 3775–3782. Published online 2017 Aug 4. doi: 10.1210/jc.2017-01251
PMCID:
PMC5630247
AbstractArticle
11.
Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis
Anja L. M. van Gucht, Marcel E. Meima, Carla Moran, Maura Agostini, Anna Tylki-Szymanska, Malgorzata Krajewska, Walasek, Krystyna Chrzanowska, Alexandra Efthymiadou, Dionisios Chrysis, Korcan Demir, W. Edward Visser, Theo J. Visser, Krishna Chatterjee, Thamar B. van Dijk, Robin P. Peeters
J Clin Endocrinol Metab. 2017 Sep 1; 102(9): 3517–3525. Published online 2017 Jul 11. doi: 10.1210/jc.2017-00840
PMCID:
PMC5587074
AbstractArticle
12.
Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins
Carla Moran, Maura Agostini, Anne McGowan, Erik Schoenmakers, Louise Fairall, Greta Lyons, Odelia Rajanayagam, Laura Watson, Amaka Offiah, John Barton, Susan Price, John Schwabe, Krishna Chatterjee
Thyroid. 2017 Jul 1; 27(7): 973–982. Published online 2017 Jul 1. doi: 10.1089/thy.2017.0157
PMCID:
PMC5561448
AbstractArticlePDF–1.1M
13.
Effective Cellular Uptake and Efflux of Thyroid Hormone by Human Monocarboxylate Transporter 10
Edith C. H. Friesema, Jurgen Jansen, Jan-willem Jachtenberg, W. Edward Visser, Monique H. A. Kester, Theo J. Visser
Mol Endocrinol. June 1, 2008; 22(6): 1357–1369. doi: 10.1210/me.2007-0112
PMCID:
PMC5419535
AbstractArticle
14.
Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns
W. Edward Visser, Edith C. H. Friesema, Theo J. Visser
Mol Endocrinol. January 1, 2011; 25(1): 1–14. doi: 10.1210/me.2010-0095
PMCID:
PMC5417302
AbstractArticle
15.
Adeno Associated Virus 9–Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice
Hideyuki Iwayama, Xiao-Hui Liao, Lyndsey Braun, Soledad Bárez-López, Brian Kaspar, Roy E. Weiss, Alexandra M. Dumitrescu, Ana Guadaño-Ferraz, Samuel Refetoff
Thyroid. 2016 Sep 1; 26(9): 1311–1319. Published online 2016 Sep 1. doi: 10.1089/thy.2016.0060
PMCID:
PMC5036314
AbstractArticlePDF–822K
16.
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis
Erik Schoenmakers, Bradley Carlson, Maura Agostini, Carla Moran, Odelia Rajanayagam, Elena Bochukova, Ryuta Tobe, Rachel Peat, Evelien Gevers, Francesco Muntoni, Pascale Guicheney, Nadia Schoenmakers, Sadaf Farooqi, Greta Lyons, Dolph Hatfield, Krishna Chatterjee
J Clin Invest. 2016 Mar 1; 126(3): 992–996. Published online 2016 Feb 8. doi: 10.1172/JCI84747
PMCID:
PMC4767355
AbstractArticlePDF–906K
17.
Enhancement of lipid peroxidation and its amelioration by vitamin E in a subject with mutations in the SBP2 gene
Yoshiro Saito, Mototada Shichiri, Takashi Hamajima, Noriko Ishida, Yuichiro Mita, Shohei Nakao, Yoshihisa Hagihara, Yasukazu Yoshida, Kazuhiko Takahashi, Etsuo Niki, Noriko Noguchi
J Lipid Res. 2015 Nov; 56(11): 2172–2182. doi: 10.1194/jlr.M059105
PMCID:
PMC4617404
AbstractArticlePDF–1.1M
18.
The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency
Alfonso Massimiliano Ferrara, Xiao-Hui Liao, Honggang Ye, Roy E. Weiss, Alexandra M. Dumitrescu, Samuel Refetoff
Endocrinology. 2015 Nov; 156(11): 3889–3894. Published online 2015 Aug 31. doi: 10.1210/en.2015-1234
PMCID:
PMC4606752
AbstractArticle
19.
Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination
Daniela López-Espíndola, Carmen Morales-Bastos, Carmen Grijota-Martínez, Xiao-Hui Liao, Dorit Lev, Ella Sugo, Charles F. Verge, Samuel Refetoff, Juan Bernal, Ana Guadaño-Ferraz
J Clin Endocrinol Metab. 2014 Dec; 99(12): E2799–E2804. Published online 2014 Sep 15. doi: 10.1210/jc.2014-2162
PMCID:
PMC4255116
AbstractArticle
20.
Placenta Passage of the Thyroid Hormone Analog DITPA to Male Wild-Type and Mct8-Deficient Mice
Alfonso Massimiliano Ferrara, Xiao-Hui Liao, Pilar Gil-Ibáñez, Juan Bernal, Roy E. Weiss, Alexandra M. Dumitrescu, Samuel Refetoff
Endocrinology. 2014 Oct; 155(10): 4088–4093. Published online 2014 Jul 22. doi: 10.1210/en.2014-1085
PMCID:
PMC4164925
AbstractArticle

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