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hypothyroidism, congenital, nongoitrous
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NKX2-5
The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis
Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
TSHR
Minireview: structural and functional evolution of the thyrotropin receptor
THRA
Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily
Domain structure of the NRIF3 family of coregulators suggests potential dual roles in transcriptional regulation
NRIF3 is a novel coactivator mediating functional specificity of nuclear hormone receptors
The TRAP220 component of a thyroid hormone receptor- associated protein (TRAP) coactivator complex interacts directly with nuclear receptors in a ligand-dependent fashion
Cancer Gene Census
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TSHR
Somatic tumors
toxic thyroid adenoma
Tumor types germline
thyroid adenoma
Cancer Syndrom
Translocation partner
Name
thyroid stimulating hormone receptor
Chromosome banding
14q31
Cancer molecular gen.
Dom
Mutation type
Mis
Other syndrome disease
Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism
Definition
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Pathways
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Clinical Trials
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