Literature DB >> 16227048

A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid.

Hiroaki Kakinuma1, Masatsune Itoh, Hiroaki Takahashi.   

Abstract

We describe brain lesions in a patient with a monocarboxylate transporter 8 mutation. Imaging showed a high T2 lesion in the left putamen at age 3 and a right putamen lesion at age 6. Cerebrospinal fluid free thyroxine concentrations were low, with normal 3,3',5-triiodothyronine concentrations.

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Year:  2005        PMID： 16227048     DOI： 10.1016/j.jpeds.2005.05.012

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  21 in total

Review 1.  Thyroid hormone and cerebellar development.

Authors:  Grant W Anderson
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

Review 2.  SLC and ABC Transporters: Expression, Localization, and Species Differences at the Blood-Brain and the Blood-Cerebrospinal Fluid Barriers.

Authors:  Marilyn E Morris; Vivian Rodriguez-Cruz; Melanie A Felmlee
Journal:  AAPS J       Date:  2017-06-29       Impact factor: 4.009

3.  Sobetirome and its Amide Prodrug Sob-AM2 Exert Thyromimetic Actions in Mct8-Deficient Brain.

Authors:  Soledad Bárez-López; Meredith D Hartley; Carmen Grijota-Martínez; Thomas S Scanlan; Ana Guadaño-Ferraz
Journal:  Thyroid       Date:  2018-06-29       Impact factor: 6.568

4.  MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

Authors:  Davide Tonduti; Adeline Vanderver; Angela Berardinelli; Johanna L Schmidt; Christin D Collins; Francesca Novara; Antonia Di Genni; Alda Mita; Fabio Triulzi; Janice E Brunstrom-Hernandez; Orsetta Zuffardi; Umberto Balottin; Simona Orcesi
Journal:  J Child Neurol       Date:  2012-07-17       Impact factor: 1.987

Review 5.  Thyroid hormone transporters--functions and clinical implications.

Authors:  Juan Bernal; Ana Guadaño-Ferraz; Beatriz Morte
Journal:  Nat Rev Endocrinol       Date:  2015-05-05       Impact factor: 43.330

Review 6.  The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.

Authors:  Charles E Schwartz; Roger E Stevenson
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2007-06       Impact factor: 4.690

7.  A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.

Authors:  Caterina Di Cosmo; Xiao-Hui Liao; Alexandra M Dumitrescu; Roy E Weiss; Samuel Refetoff
Journal:  Endocrinology       Date:  2009-06-04       Impact factor: 4.736

8.  Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.

Authors:  Noriyuki Namba; Yuri Etani; Taichi Kitaoka; Yasuko Nakamoto; Mariko Nakacho; Kazuhiko Bessho; Yoko Miyoshi; Sotaro Mushiake; Ikuko Mohri; Hiroshi Arai; Masako Taniike; Keiichi Ozono
Journal:  Eur J Pediatr       Date:  2007-09-25       Impact factor: 3.183

9.  Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10.

Authors:  Edith C H Friesema; Jurgen Jansen; Jan-Willem Jachtenberg; W Edward Visser; Monique H A Kester; Theo J Visser
Journal:  Mol Endocrinol       Date:  2008-03-12

Review 10.  The syndromes of reduced sensitivity to thyroid hormone.

Authors:  Alexandra M Dumitrescu; Samuel Refetoff
Journal:  Biochim Biophys Acta       Date:  2012-08-16
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