Key data from the 2023 European Thyroid Association annual meeting: Thyroid hormone resistance syndromes

被引：0

作者：

Grunenwald, Solange ^{[1
]}

Caron, Philippe ^{[1
]}

机构：

[1] CHU Larrey, Dept Endocrinol Metab Dis & Nutr, Cardiovasc & Metab Unit, Toulouse, France

来源：

ANNALES D ENDOCRINOLOGIE | 2024年 / 85卷 / 02期

关键词：

MCT8; MUTATION;

D O I：

10.1016/j.ando.2024.01.008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：161 / 162

页数：2

共 16 条

[1] A Mutation in the Thyroid Hormone Receptor Alpha Gene [J].

Bochukova, Elena ;

Schoenmakers, Nadia ;

Agostini, Maura ;

Schoenmakers, Erik ;

Rajanayagam, Odelia ;

Keogh, Julia M. ;

Henning, Elana ;

Reinemund, Jana ;

Gevers, Evelien ;

Sarri, Margarita ;

Downes, Kate ;

Offiah, Amaka ;

Albanese, Assunta ;

Halsall, David ;

Schwabe, John W. R. ;

Bain, Murray ;

Lindley, Keith ;

Muntoni, Francesco ;

Khadem, Faraneh Vargha ;

Dattani, Mehul ;

Farooqi, I. Sadaf ;

Gurnell, Mark ;

Chatterjee, Krishna .

NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (03) :243-249

[2] The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome [J].

Braun, Doreen ;

Schweizer, Ulrich .

ENDOCRINOLOGY, 2017, 158 (03) :678-691

[3] Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones [J].

Braun, Doreen ;

Schweizer, Ulrich .

ENDOCRINOLOGY, 2015, 156 (12) :4720-4730

[4] Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice [J].

Chen, Jiesi ;

Salveridou, Eva ;

Liebmann, Lutz ;

Sundaram, Sivaraj M. ;

Doycheva, Denica ;

Markova, Boyka ;

Hubner, Christian A. ;

Boelen, Anita ;

Visser, W. Edward ;

Heuer, Heike ;

Mayerl, Steffen .

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (04)

[5] Apparent resistance to thyroid hormones: From biological interference to genetics [J].

Dieu, Xavier ;

Sueur, Guillaume ;

Moal, Valerie ;

de Casson, Florence Boux ;

Bouzamondo, Nathalie ;

Bouhours, Natacha ;

Briet, Claire ;

Illouz, Frederic ;

Reynier, Pascal ;

Coutant, Regis ;

Rodien, Patrice ;

Mirebeau-Prunier, Delphine .

ANNALES D ENDOCRINOLOGIE, 2019, 80 (5-6) :280-285

[6] Thyroid Hormone Transporters [J].

Groeneweg, Stefan ;

van Geest, Ferdy S. ;

Peeters, Robin P. ;

Heuer, Heike ;

Visser, W. Edward .

ENDOCRINE REVIEWS, 2020, 41 (02) :146-201

[7] Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial [J].

Groeneweg, Stefan ;

Peeters, Robin P. ;

Moran, Carla ;

Stoupa, Mb Athanasia ;

Auriol, Francoise ;

Tonduti, Davide ;

Dica, Alice ;

Paone, Laura ;

Rozenkova, Klara ;

Malikova, Jana ;

van der Walt, Adri ;

de Coo, Irenaeus F. M. ;

McGowan, Anne ;

Lyons, Greta ;

Aarsen, Rgn Feke K. ;

Barca, PhD Diana ;

van Beynu, Ingrid M. ;

van der Knoop, Marieke M. ;

Jansen, Jurgen ;

Manshande, Martien ;

Lunsing, Roelineke J. ;

Nowak, Stan ;

den Uil, Corstiaan A. ;

Zillikens, M. Carola ;

Visser, Frank E. ;

Vrijoeth, Paul ;

de Wit, Marie Claire Y. ;

Wolf, Nicole, I ;

Zandstra, Angelique ;

Abegaonkar, Gauta ;

Singh, Yogen ;

de Rijke, Yolanda B. ;

Medici, Marco ;

Bertini, Enrico S. ;

Depoorter, Sylvia ;

Lebl, Jan ;

Cappa, Marco ;

De Meirleir, Linda ;

Krude, Heiko ;

Craiu, Dana ;

Zibordi, Federica ;

Petit, Isabelle Oliver ;

Polak, Michel ;

Chatterjee, Krishna ;

Visser, Theo J. ;

Visser, W. Edward .

LANCET DIABETES & ENDOCRINOLOGY, 2019, 7 (09) :695-706

[8] Effects of Chemical Chaperones on Thyroid Hormone Transport by MCT8 Mutants in Patient-Derived Fibroblasts [J].

Groeneweg, Stefan ;

van den Berge, Amanda ;

Meima, Marcel E. ;

Peeters, Robin P. ;

Visser, Theo J. ;

Visser, W. Edward .

ENDOCRINOLOGY, 2018, 159 (03) :1290-1302

[9] Cardiac complications of thyroid hormone resistance syndromes [J].

Illouz, Frederic ;

Briet, Claire ;

Mirebeau-Prunier, Delphine ;

Bouhours-Nouet, Natacha ;

Coutant, Regis ;

Sibilia, Paul ;

Rodien, Patrice .

ANNALES D ENDOCRINOLOGIE, 2021, 82 (3-4) :167-169

[10] MCT8: From gene to disease and therapeutic approach [J].

Kersseboom, S. ;

Visser, T. J. .

ANNALES D ENDOCRINOLOGIE, 2011, 72 (02) :77-81

← 1 2 →