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

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

Thyroid ◽

10.1089/thy.1997.7.771 ◽

1997 ◽

Vol 7 (5) ◽

pp. 771-773 ◽

Cited By ~ 5

Author(s):

TOMOHISA NAGASHIMA ◽

HIDEKI YAGI ◽

KANJI NAGASHIMA ◽

AKIHIRO SAKURAI ◽

KAZUMICHI ONIGATA ◽

...

Keyword(s):

Thyroid Hormone ◽

Point Mutation ◽

Hormone Receptor ◽

Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor β gene (P453T)

Journal of Laboratory and Clinical Medicine ◽

10.1016/j.lab.2005.04.005 ◽

2005 ◽

Vol 146 (2) ◽

pp. 85-94 ◽

Cited By ~ 10

Author(s):

Sharon Y. Wu ◽

Peter M. Sadow ◽

Samuel Refetoff ◽

Roy E. Weiss

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Tissue Responses ◽

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

Thyroid ◽

10.1089/thy.1999.9.165 ◽

1999 ◽

Vol 9 (2) ◽

pp. 165-171 ◽

Cited By ~ 13

Author(s):

GAIANE SARKISSIAN ◽

ALEXANDRA DACE ◽

ANNE MESMACQUE ◽

HELENE BONY-TRIFUNOVIC ◽

CHRISTIANE MALEZET-DESMOULINS ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

New Mutation ◽

An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

Journal of Translational Medicine ◽

10.1186/1479-5876-9-144 ◽

2011 ◽

Vol 9 (1) ◽

pp. 144 ◽

Cited By ~ 18

Author(s):

Anna Alberobello ◽

Valentina Congedo ◽

Hong Liu ◽

Craig Cochran ◽

Monica C Skarulis ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Index Case ◽

Pituitary Cell ◽

Over Expression ◽

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

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2004-1488 ◽

2005 ◽

Vol 90 (3) ◽

pp. 1760-1767 ◽

Cited By ~ 14

Author(s):

Joaquin Lado-Abeal ◽

Alexandra M. Dumitrescu ◽

Xiao-Hui Liao ◽

Ronald N. Cohen ◽

Joachim Pohlenz ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Biochemical characterization of four novel mutations in the thyroid hormone receptor β gene in patients with resistance to thyroid hormone

Scandinavian Journal of Clinical and Laboratory Investigation ◽

10.1080/00365510701884592 ◽

2008 ◽

Vol 68 (7) ◽

pp. 563-567 ◽

Cited By ~ 2

Author(s):

B. A. Asadi ◽

P. A. Torjesen ◽

E. Haug ◽

J. P. Berg

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Biochemical Characterization ◽

Novel Mutations ◽

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

Human Genetics ◽

10.1007/bf02185783 ◽

1996 ◽

Vol 97 (3) ◽

pp. 407-408 ◽

Cited By ~ 1

Author(s):

Hiromichi Kijima ◽

Mitsumasa Kubo ◽

Tatsuya Ishizuka ◽

Mitsuaki Kakinuma ◽

Takao Koike

Keyword(s):

Thyroid Hormone ◽

Missense Mutation ◽

Hormone Receptor ◽

Selective Pituitary Resistance to Thyroid Hormone Produced by Expression of a Mutant Thyroid Hormone Receptor β Gene in the Pituitary Gland of Transgenic Mice

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1998.8396 ◽

1998 ◽

Vol 245 (1) ◽

pp. 204-210 ◽

Cited By ~ 16

Author(s):

Yoshitaka Hayashi ◽

Jun Xie ◽

Roy E. Weiss ◽

Joachim Pohlenz ◽

Samuel Refetoff

Keyword(s):

Thyroid Hormone ◽

Transgenic Mice ◽

Pituitary Gland ◽

Hormone Receptor ◽

A Novel Mutation (M310L) in the Thyroid Hormone Receptor β Causing Resistance to Thyroid Hormone in a Brazilian Kindred and a Neonate

Molecular Genetics and Metabolism ◽

10.1006/mgme.2000.3088 ◽

2000 ◽

Vol 71 (3) ◽

pp. 520-526 ◽

Cited By ~ 14

Author(s):

Tania Weber Furlanetto ◽

Peter Kopp ◽

Simone Peccin ◽

Wen-Xia Gu ◽

J.Larry Jameson

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Novel Mutation ◽

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

Molecular and Cellular Probes ◽

10.1016/j.mcp.2009.02.002 ◽

2009 ◽

Vol 23 (3-4) ◽

pp. 148-153 ◽

Cited By ~ 15

Author(s):

Carina M. Rivolta ◽

María C. Olcese ◽

Fiorella S. Belforte ◽

Ana Chiesa ◽

Laura Gruñeiro-Papendieck ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Human Thyroid ◽

South American ◽

Missense Mutations ◽

American Population ◽

South American Population ◽