Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor β gene

2009 ◽  
Vol 23 (3-4) ◽  
pp. 148-153 ◽  
Author(s):  
Carina M. Rivolta ◽  
María C. Olcese ◽  
Fiorella S. Belforte ◽  
Ana Chiesa ◽  
Laura Gruñeiro-Papendieck ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Human Thyroid ◽  
South American ◽  
Missense Mutations ◽  
American Population ◽  
South American Population ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

scholarly journals Thyroid hormone receptor β mutations in the ‘hot-spot region’ are rare events in thyroid carcinomas

2007 ◽  
Vol 192 (1) ◽  
pp. 83-86 ◽  
Author(s):  
Ana Sofia Rocha ◽  
Ricardo Marques ◽  
Inês Bento ◽  
Ricardo Soares ◽  
João Magalhães ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Thyroid Hormone ◽  
Transgenic Mice ◽  
Cell Lines ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Hot Spot ◽  
Direct Sequencing ◽  
Human Thyroid ◽  
Thyroid Hormone Receptor Β

Thyroid cancer constitutes the most frequent endocrine neoplasia. Targeted expression of rearranged during transfection (RET)/papillary thyroid carcinoma (PTC) and V600E V-raf murine sarcoma viral oncogene homolog B1 (BRAF) to the thyroid glands of transgenic mice results in tumours similar to those of human PTC, providing evidence for the involvement of these oncogenes in PTC. Kato et al. developed a mouse model that mimics the full spectrum of the human follicular form of thyroid cancer (FTC). FTC rapidly develops in these mice through introduction of the thyroid hormone receptor β (THRB)PV mutant on the background of the inactivated THRB wt locus. Our aim was to verify if, in the context of human follicular thyroid carcinogenesis, THRB acted as a tumour suppressor gene. We screened for mutations of the THRB gene in the hot-spot region, spanning exons 7–10, in 51 thyroid tumours and six thyroid cancer cell lines by PCR and direct sequencing. We did not find mutations in any of the tumours or cell lines analysed. Our findings suggest that, in contrast to the findings on the THRB-mutant transgenic mice, THRB gene mutations are not a relevant mechanism for human thyroid carcinogenesis.

A Novel Point Mutation of Thyroid Hormone Receptor β Gene in a Family with Resistance to Thyroid Hormone

Thyroid ◽  
1997 ◽  
Vol 7 (5) ◽  
pp. 771-773 ◽  
Author(s):  
TOMOHISA NAGASHIMA ◽  
HIDEKI YAGI ◽  
KANJI NAGASHIMA ◽  
AKIHIRO SAKURAI ◽  
KAZUMICHI ONIGATA ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Point Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

A Novel Resistance to Thyroid Hormone Associated with a New Mutation (T329N) in the Thyroid Hormone Receptor β Gene

Thyroid ◽  
1999 ◽  
Vol 9 (2) ◽  
pp. 165-171 ◽  
Author(s):  
GAIANE SARKISSIAN ◽  
ALEXANDRA DACE ◽  
ANNE MESMACQUE ◽  
HELENE BONY-TRIFUNOVIC ◽  
CHRISTIANE MALEZET-DESMOULINS ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
New Mutation ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

Phenotype Differences of Resistance to Thyroid Hormone in Two Unrelated Families with an Identical Mutation in the Thyroid Hormone Receptor β Gene (R320C)

Thyroid ◽  
1997 ◽  
Vol 7 (1) ◽  
pp. 35-38 ◽  
Author(s):  
ROY E. WEISS ◽  
HAKAN TUNCA ◽  
WHITFIELD L. KNAPPLE ◽  
FRED H. FAAS ◽  
SAMUEL REFETOFF
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

scholarly journals ADe NovoMutation in an Already Mutant Nucleotide of the Thyroid Hormone Receptor β Gene Perpetuates Resistance to Thyroid Hormone

2005 ◽  
Vol 90 (3) ◽  
pp. 1760-1767 ◽  
Author(s):  
Joaquin Lado-Abeal ◽  
Alexandra M. Dumitrescu ◽  
Xiao-Hui Liao ◽  
Ronald N. Cohen ◽  
Joachim Pohlenz ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β

A novel missense mutation in the thyroid hormone receptor β gene in a kindred with resistance to thyroid hormone

1996 ◽  
Vol 97 (3) ◽  
pp. 407-408 ◽  
Author(s):  
Hiromichi Kijima ◽  
Mitsumasa Kubo ◽  
Tatsuya Ishizuka ◽  
Mitsuaki Kakinuma ◽  
Takao Koike
Keyword(s):  
Thyroid Hormone ◽  
Missense Mutation ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Resistance To Thyroid Hormone ◽  
Thyroid Hormone Receptor Β
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