File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormone

TitleDNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormone
Authors
Issue Date2005
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2005, v. 358 n. 1-2, p. 55-59 How to Cite?
AbstractBackground: Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was initially misdiagnosed and treated as having thyrotoxicosis. Methods: We used direct DNA sequencing of the THRB gene. Results: We identified a novel missense mutation, I276L, located in exon 8 of the gene. The mutation is located in cluster 3 of the ligand-binding domain, a protein domain associated with resistance to thyroid hormone. Conclusion: DNA-based diagnosis of thyroid hormone resistance syndrome is simple, reliable, and economical compared to traditional biochemical tests. Once the mutation is identified, targeted screening for the whole family can be performed and the unnecessary use of anti-thyroid drugs or thyroidectomy can be avoided. © 2005 Elsevier B.V. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148419
ISSN
2015 Impact Factor: 2.799
2015 SCImago Journal Rankings: 1.040
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, AOKen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorShek, CCen_US
dc.contributor.authorSau, CTen_US
dc.date.accessioned2012-05-29T06:12:51Z-
dc.date.available2012-05-29T06:12:51Z-
dc.date.issued2005en_US
dc.identifier.citationClinica Chimica Acta, 2005, v. 358 n. 1-2, p. 55-59en_US
dc.identifier.issn0009-8981en_US
dc.identifier.urihttp://hdl.handle.net/10722/148419-
dc.description.abstractBackground: Thyroid hormones govern a wide range of metabolic processes in the body via thyroid hormone receptors (TR). We report a patient with mild resistance to thyroid hormone who was initially misdiagnosed and treated as having thyrotoxicosis. Methods: We used direct DNA sequencing of the THRB gene. Results: We identified a novel missense mutation, I276L, located in exon 8 of the gene. The mutation is located in cluster 3 of the ligand-binding domain, a protein domain associated with resistance to thyroid hormone. Conclusion: DNA-based diagnosis of thyroid hormone resistance syndrome is simple, reliable, and economical compared to traditional biochemical tests. Once the mutation is identified, targeted screening for the whole family can be performed and the unnecessary use of anti-thyroid drugs or thyroidectomy can be avoided. © 2005 Elsevier B.V. All rights reserved.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/ccaen_US
dc.relation.ispartofClinica Chimica Actaen_US
dc.subject.meshAdulten_US
dc.subject.meshDna Mutational Analysis - Methodsen_US
dc.subject.meshFamily Healthen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshPedigreeen_US
dc.subject.meshThyroid Hormone Receptors Beta - Genetics - Metabolismen_US
dc.subject.meshThyroid Hormone Resistance Syndrome - Diagnosis - Geneticsen_US
dc.subject.meshThyroid Hormones - Genetics - Metabolismen_US
dc.subject.meshTime Factorsen_US
dc.titleDNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroid hormoneen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.cccn.2005.02.014en_US
dc.identifier.pmid15913586-
dc.identifier.scopuseid_2-s2.0-22044433015en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-22044433015&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume358en_US
dc.identifier.issue1-2en_US
dc.identifier.spage55en_US
dc.identifier.epage59en_US
dc.identifier.isiWOS:000231001600004-
dc.publisher.placeNetherlandsen_US

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats