scholarly journals A Somatic Gain-of-Function Mutation in the Thyrotropin Receptor Gene Producing a Toxic Adenoma in an Infant

Thyroid ◽  
2009 ◽  
Vol 19 (2) ◽  
pp. 187-191 ◽  
Author(s):  
Brenda Kohn ◽  
Helmut Grasberger ◽  
Leslie L. Lam ◽  
Alfonso Massimiliano Ferrara ◽  
Samuel Refetoff
Keyword(s):  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Toxic Adenoma ◽  
Gain Of Function

Follicular thyroid carcinoma due to a heterozygous gain of function mutation in thyrotropin receptor (TSHR)

2017 ◽  
Author(s):  
James Blackburn ◽  
Dinesh Giri ◽  
Senthil Seniappan ◽  
Mohammed Didi ◽  
Barbara Ciolka ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Follicular Thyroid Carcinoma ◽  
Thyrotropin Receptor ◽  
Gain Of Function

scholarly journals Revisiting the Functional Role of Dopamine D4 Receptor Gene Polymorphisms: Heteromerization-Dependent Gain of Function of the D4.7 Receptor Variant

2018 ◽  
Vol 56 (7) ◽  
pp. 4778-4785 ◽  
Author(s):  
Marta Sánchez-Soto ◽  
Hideaki Yano ◽  
Ning-Sheng Cai ◽  
Verònica Casadó-Anguera ◽  
Estefanía Moreno ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Functional Role ◽  
Receptor Gene ◽  
Dopamine D4 Receptor ◽  
Gain Of Function ◽  
D4 Receptor ◽  
Receptor Gene Polymorphisms

scholarly journals A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation

2014 ◽  
Vol 75 (6) ◽  
pp. 749-753 ◽  
Author(s):  
Akie Nakamura ◽  
Shuntaro Morikawa ◽  
Hayato Aoyagi ◽  
Katsura Ishizu ◽  
Toshihiro Tajima
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Japanese Family

Analysis of Mutations in Exon 1 of the Human Thyrotropin Receptor Gene: High Frequency of the D36H and P52T Polymorphic Variants

Thyroid ◽  
1999 ◽  
Vol 9 (1) ◽  
pp. 7-11 ◽  
Author(s):  
JAANA SIMANAINEN ◽  
AMELIE KINCH ◽  
KERSTIN WESTERMARK ◽  
BRITA WINSA ◽  
MATS BENGTSSON ◽  
...  
Keyword(s):  
High Frequency ◽  
Receptor Gene ◽  
Thyrotropin Receptor ◽  
Exon 1 ◽  
Polymorphic Variants
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