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

Novel Mutations ◽

Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone

HORMONES ◽

10.14310/horm.2002.1482 ◽

2002 ◽

Author(s):

Antonio Amor ◽

Irene Halperin ◽

Rocίo Alfayate ◽

Victoria Borrás ◽

Arancha Escribano ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Novel Mutations ◽

Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone

HORMONES ◽

10.1007/bf03401322 ◽

2014 ◽

Vol 13 (1) ◽

pp. 74-78 ◽

Cited By ~ 11

Author(s):

Antonio J. Amor ◽

Irene Halperin ◽

Rocío Alfayate ◽

Victoria M. Borrás ◽

Arancha Escribano ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Novel Mutations ◽

Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data

Hormone and Metabolic Research ◽

10.1055/s-0035-1545305 ◽

2015 ◽

Vol 47 (12) ◽

pp. 889-894 ◽

Cited By ~ 1

Author(s):

A. Esquiaveto-Aun ◽

D. Zantut-Wittmann ◽

R. Petroli ◽

B.S. Nakano ◽

G. Guerra-Júnior ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Molecular Data ◽

Novel Mutations ◽

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 ◽

Generation and Characterization of a New Resistance to Thyroid Hormone Mouse Model with Thyroid Hormone Receptor Alpha Gene Mutation

Thyroid ◽

10.1089/thy.2019.0733 ◽

2020 ◽

Author(s):

Yue Liang ◽

Defa Zhao ◽

Ranran Wang ◽

Pingping Dang ◽

Yue Xi ◽

...

Keyword(s):

Thyroid Hormone ◽

Mouse Model ◽

Gene Mutation ◽

Hormone Receptor ◽

Receptor Alpha ◽

Alpha Gene

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 ◽

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 ◽