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rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0026377,
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0035339,
umls-concept:C0040135,
umls-concept:C0205419,
umls-concept:C0314603,
umls-concept:C0337112,
umls-concept:C0683598,
umls-concept:C1335439,
umls-concept:C1524075,
umls-concept:C1552603,
umls-concept:C1706202,
umls-concept:C1710295,
umls-concept:C1882417
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|
pubmed:issue |
5
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|
pubmed:dateCreated |
2004-6-9
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|
pubmed:abstractText |
Resistance to thyroid hormone (RTH) is an inherited disease characterized by reduced tissue sensitivity to thyroid hormone. Approximately 90% of subjects with RTH have mutation in the thyroid hormone receptor beta (TRbeta) gene. Approximately 10% of subjects diagnosed as having RTH do not carry mutation in the TRbeta gene. A possible linkage was reported with the retinoid X receptor-gamma (RXR-gamma) gene in two families. The aim of this study is to search for mutation within the RXR-gamma gene in unrelated subjects with diagnosed RTH without mutations in the TRbeta gene. Four subjects with RTH were studied, and sequence variants in the RXR-gamma gene were searched by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP). Analysis of all the 10 exons of the RXR-gamma gene, including intron-exon boundaries, promoter region and 3' untranslated region (UTR) reveled two variant bands in subjects II and III. Sequencing of these variants showed two single nucleotide polymorphisms (SNPs): 447C > T in exon 3 for patients II and IVS9 + 6A > G for patient III. Both SNPs were also present at high frequency in a group of normal subjects and in nonaffected relatives of subject III. In conclusion, in patients with RTH we have found two SNPs in the RXR-gamma gene; these SNPS are common in the general population, thus excluding a role for the RXR-gamma gene in these patients.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1050-7256
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
14
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
355-8
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:15186611-Adult,
pubmed-meshheading:15186611-DNA Primers,
pubmed-meshheading:15186611-Exons,
pubmed-meshheading:15186611-Female,
pubmed-meshheading:15186611-Genetic Variation,
pubmed-meshheading:15186611-Goiter,
pubmed-meshheading:15186611-Humans,
pubmed-meshheading:15186611-Introns,
pubmed-meshheading:15186611-Male,
pubmed-meshheading:15186611-Middle Aged,
pubmed-meshheading:15186611-Mutation,
pubmed-meshheading:15186611-Polymerase Chain Reaction,
pubmed-meshheading:15186611-Polymorphism, Single Nucleotide,
pubmed-meshheading:15186611-Receptors, Thyroid Hormone,
pubmed-meshheading:15186611-Retinoid X Receptor gamma,
pubmed-meshheading:15186611-Thyroid Hormone Receptors beta,
pubmed-meshheading:15186611-Thyroid Hormone Resistance Syndrome,
pubmed-meshheading:15186611-Thyroid Hormones,
pubmed-meshheading:15186611-Thyrotropin,
pubmed-meshheading:15186611-Triiodothyronine
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pubmed:year |
2004
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|
pubmed:articleTitle |
Search for genetic variants in the retinoid X receptor-gamma-gene by polymerase chain reaction-single-strand conformation polymorphism in patients with resistance to thyroid hormone without mutations in thyroid hormone receptor beta gene.
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pubmed:affiliation |
Department of Clinical Sciences, Division of Endocrinology, University of Rome La Sapienza, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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