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

New Mutation ◽

Resistance to Thyroid Hormone Caused by a New Mutation (V336M) in the Thyroid Hormone Receptor β Gene

Thyroid ◽

10.1089/thy.1999.9.1001 ◽

1999 ◽

Vol 9 (10) ◽

pp. 1001-1004 ◽

Cited By ~ 5

Author(s):

JOACHIM POHLENZ ◽

WINFRIED SCHÖNBERGER ◽

THOMAS KOFFLER ◽

SAMUEL REFETOFF

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

New Mutation ◽

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 ◽

Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

Journal of Clinical Investigation ◽

10.1172/jci115023 ◽

1991 ◽

Vol 87 (2) ◽

pp. 496-502 ◽

Cited By ~ 44

Author(s):

K Takeda ◽

S Balzano ◽

A Sakurai ◽

L J DeGroot ◽

S Refetoff

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Point Mutations ◽

New Mutation ◽

Beta Gene ◽

Receptor Beta

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 ◽

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

Thyroid ◽

10.1089/thy.1997.7.35 ◽

1997 ◽

Vol 7 (1) ◽

pp. 35-38 ◽

Cited By ~ 9

Author(s):

ROY E. WEISS ◽

HAKAN TUNCA ◽

WHITFIELD L. KNAPPLE ◽

FRED H. FAAS ◽

SAMUEL REFETOFF

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

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 ◽