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hypothyroidism, congenital
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NKX2-5
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease
Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease
PAX8
Pax genes in renal development, disease and regeneration
Pax-8-PPAR-���� fusion protein in thyroid carcinoma
Thyroid hormone receptor beta-dependent expression of a potassium conductance in inner hair cells at the onset of hearing
Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone
TSHR
Imaging of persistent cAMP signaling by internalized G protein-coupled receptors
THRA
Regulation of the human immunodeficiency virus type 1 long terminal repeat: interactions of thyroid hormone receptor with retinoid-X receptor, nuclear factor kappa B, Sp1, and Tat
Chromosomal localisation of the human homologues to the oncogenes erbA and B
A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia
Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily
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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Hormone ligand-binding receptors
species not specified
one gene
Clinical Trials
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