Entry
Name
Type
Gain of function
Gene
TSHR thyroid stimulating hormone receptor [KO:
K04249 ]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Variation
Variation
Network
Disease
H01269 Congenital hyperthyroidism
Reference
Authors
Hebrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclere J
Title
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Journal
Reference
Authors
Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G
Title
Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.
Journal
Reference
Authors
Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, et al.
Title
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.
Journal
Reference
Authors
Holzapfel HP, Wonerow P, von Petrykowski W, Henschen M, Scherbaum WA, Paschke R
Title
Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene.
Journal
Reference
Authors
Cho WK, Ahn MB, Jang W, Chae H, Kim M, Suh BK
Title
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.
Journal
Reference
Authors
Paschke R
Title
Constitutively activating TSH receptor mutations as the cause of toxic thyroid adenoma, multinodular toxic goiter and autosomal dominant non autoimmune hyperthyroidism.
Journal
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