Thyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene

Hormone Resistance ◽

Thyroid Hormone Receptor Β ◽

Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report

Molecular Medicine Reports ◽

10.3892/mmr.2019.10703 ◽

2019 ◽

Cited By ~ 1

Author(s):

Jue Wang ◽

Haihong Lv

Keyword(s):

Case Report ◽

Thyroid Hormone ◽

Hormone Receptor ◽

Novel Mutation ◽

Hormone Resistance ◽

Thyroid Hormone Receptor Β ◽

Thyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene

Medicine ◽

10.1097/md.0000000000004415 ◽

2016 ◽

Vol 95 (33) ◽

pp. e4415 ◽

Cited By ~ 4

Author(s):

Qing-Hua Guo ◽

Bao-An Wang ◽

Chen-Zhi Wang ◽

Min Wang ◽

Ju-Ming Lu ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Receptor Β ◽

The Novel Missense Mutation Methionine 442 Threonine in the Thyroid Hormone Receptor β causes Thyroid Hormone Resistance: A Case Report

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-2004-815763 ◽

2004 ◽

Vol 112 (02) ◽

pp. 95-97 ◽

Cited By ~ 4

Author(s):

Y. Bayer ◽

M. Fasshauer ◽

R. Paschke

Keyword(s):

Case Report ◽

Thyroid Hormone ◽

Missense Mutation ◽

Hormone Receptor ◽

The Novel ◽

Hormone Resistance ◽

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

Journal of Medical Genetics ◽

10.1136/jmedgenet-2014-102936 ◽

2015 ◽

Vol 52 (5) ◽

pp. 312-316 ◽

Cited By ~ 51

Author(s):

Anna Tylki-Szymańska ◽

Rocio Acuna-Hidalgo ◽

Małgorzata Krajewska-Walasek ◽

Agnieszka Lecka-Ambroziak ◽

Marloes Steehouwer ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Receptor Α ◽

Nomenclature of thyroid hormone receptor-β gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10–11th July 1993, Cambridge, UK

Acta Endocrinologica ◽

10.1530/eje.0.1300426 ◽

1994 ◽

Vol 130 (4) ◽

pp. 426-428 ◽

Cited By ~ 5

Author(s):

P Beck-Peccoz ◽

VKK Chatterjee ◽

WW Chin ◽

LJ DeGroot ◽

JL Jameson ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Consensus Statement ◽

Gene Mutations ◽

Hormone Resistance ◽

Resistance To Thyroid Hormone ◽

Thyroid Hormone Resistance in the Heart: Role of the Thyroid Hormone Receptor β Isoform

Endocrinology ◽

10.1210/en.2003-1031 ◽

2004 ◽

Vol 145 (4) ◽

pp. 1625-1633 ◽

Cited By ~ 20

Author(s):

Tania M. Ortiga-Carvalho ◽

Koshi Hashimoto ◽

Carmen C. Pazos-Moura ◽

David Geenen ◽

Ronald Cohen ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Hormone Resistance ◽

Functional properties of a novel mutant thyroid hormone receptor in a family with generalized thyroid hormone resistance syndrome

Clinical Endocrinology ◽

10.1111/j.1365-2265.1992.tb01444.x ◽

1992 ◽

Vol 36 (3) ◽

pp. 281-289 ◽

Cited By ~ 20

Author(s):

M. Adams ◽

T. Nagaya ◽

Y. Tone ◽

J. L. Jameson ◽

V. K. K. Chatterjee

Keyword(s):

Thyroid Hormone ◽

Functional Properties ◽

Hormone Receptor ◽

Hormone Resistance ◽

A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report

Journal of Medical Case Reports ◽

10.1186/1752-1947-8-12 ◽

2014 ◽

Vol 8 (1) ◽

Cited By ~ 2

Author(s):

Kawther El Shafie ◽

Allal Ouhtit ◽

Yousuf Al Farsi ◽

Abeer Al Sayegh ◽

Mohammed Al Shafaee

Keyword(s):

Case Report ◽

Thyroid Hormone ◽

Gene Mutation ◽

Hormone Receptor ◽

Hormone Resistance ◽

Thyroid Hormone Resistance Syndrome ◽

Receptor Beta

A Newly Identified Insertion Mutation in the Thyroid Hormone Receptor-β Gene in a Korean Family with Generalized Thyroid Hormone Resistance

Journal of Korean Medical Science ◽

10.3346/jkms.2007.22.3.560 ◽

2007 ◽

Vol 22 (3) ◽

pp. 560 ◽

Cited By ~ 14

Author(s):

Ji Hye Kim ◽

Tae Sun Park ◽

Hong Sun Baek ◽

Gu Hwan Kim ◽

Han Wook Yoo ◽

...

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Insertion Mutation ◽

Hormone Resistance ◽

Korean Family ◽

Characterization of a novel mutant human thyroid hormone receptor β in a family with hereditary thyroid hormone resistance

Clinical Endocrinology ◽

10.1111/j.1365-2265.1993.tb00969.x ◽

1993 ◽

Vol 38 (1) ◽

pp. 29-38 ◽

Cited By ~ 11

Author(s):

Akihiro Sakurai ◽

Takahide Miyamoto ◽

Ieuan A. Hughes ◽

Leslie J. DeGroot

Keyword(s):

Thyroid Hormone ◽

Hormone Receptor ◽

Human Thyroid ◽

Hormone Resistance ◽