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THRB wt Allele

Known as: Thyroid Hormone Receptor Beta Gene, THR1, THRB1 
Human THRB wild-type allele is located in the vicinity of 3p24.2 and is approximately 377 kb in length. This allele, which encodes thyroid hormone… 
National Institutes of Health

Related topics

Related topics

13 relations
3p24.3Biologic DevelopmentCell Differentiation processCell Proliferation

Broader (1)

THRB gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Structural insights revealed by two novel THRB mutations
Purpose Among the inheritable forms of impaired sensitivity to thyroid hormone, resistance to thyroid hormone (RTH) due to… 
2019
2019
A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance
Background: Resistance to thyroid hormone beta (RTHβ) is characterized by elevated thyroid hormone and unsuppressed thyroid… 
2017
2017
Neonatal “resistance to thyroid hormone (refetoff syndrome)” with novel THRB mutation
Context: Resistance to thyroid hormone (RTH) is an inherited condition with variable target tissue hyposensitivity. We report two… 
2013
2013
Thyroid hormone resistance caused by a novel deleterious variant of the thyroid hormone receptor beta gene.
2009
2009
Periodically hyperthyroid phenotype in thyroid hormone resistance is associated with mutation D322N in the thyroid hormone receptor ß gene: Transcriptional properties of the mutant and the role of…
We report a point mutation in the ligand-binding domain of the TR beta 1 gene in an affected patient and his daughter. The… 
2008
2008
Biochemical characterization of four novel mutations in the thyroid hormone receptor β gene in patients with resistance to thyroid hormone
In resistance to thyroid hormone (RTH), decreased tissue responsiveness to thyroid hormones is usually caused by mutations in the… 
2007
2007
Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone
The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In… 
2000
2000
Effect of gene amplification on threonine production by yeast
In this work, we have studied the effect of amplifying different alleles involved in the threonine biosynthesis on the amino acid… 
1998
1998
T426I a new mutation in the thyroid hormone receptor beta gene in a sporadic patient with resistance to thyroid hormone and dysmorphism. Mutations in brief no. 192. Online.
Resistance to thyroid hormone (RTH) is a rare inherited autosomal syndrome caused by mutations in the thyroid hormone receptor… 
1991
1991
Dinucleotide repeat polymorphism in the human thyroid hormone receptor beta gene (THRB) on chromosome 3.
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