Search: onr:"swepub:oai:lup.lub.lu.se:d7ef26be-ca48-4b3e-b55a-5e6ce7904565" >
Association between...
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
-
Friesema, ECH (author)
-
Grueters, A (author)
-
Biebermann, H (author)
-
show more...
-
Krude, H (author)
-
von Moers, A (author)
-
Reeser, M (author)
-
Barrett, TG (author)
-
Mancilla, EE (author)
-
- Svensson, Johan (author)
- Lund University,Lunds universitet,Pediatrisk endokrinologi,Forskargrupper vid Lunds universitet,Paediatric Endocrinology,Lund University Research Groups
-
Kester, MHA (author)
-
Kuiper, GGJM (author)
-
Balkassmi, S (author)
-
Uitterlinden, AG (author)
-
Koehrle, J (author)
-
Rodien, P (author)
-
Halestrap, AP (author)
-
Visser, T (author)
-
show less...
-
(creator_code:org_t)
- 2004
- 2004
- English.
-
In: The Lancet. - 1474-547X. ; 364:9443, s. 1435-1437
- Related links:
-
http://dx.doi.org/10...
-
show more...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T,) concentrations in five unrelated young boys. The coding sequence of MCT8 was analysed by PCR and direct sequencing of its six exons. In two patients, gene deletions of 2.4 kb and 24 kb were recorded and in three patients missense mutations Ala150Va1, Arg171stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T-3 entry into neurons through MCT8, resulting in impaired T-3 action and metabolism.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
-
The Lancet
(Search for host publication in LIBRIS)
To the university's database
- By the author/editor
-
Friesema, ECH
-
Grueters, A
-
Biebermann, H
-
Krude, H
-
von Moers, A
-
Reeser, M
-
show more...
-
Barrett, TG
-
Mancilla, EE
-
Svensson, Johan
-
Kester, MHA
-
Kuiper, GGJM
-
Balkassmi, S
-
Uitterlinden, AG
-
Koehrle, J
-
Rodien, P
-
Halestrap, AP
-
Visser, T
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Pediatrics
- Articles in the publication
-
The Lancet
- By the university
-
Lund University