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Allelic variations of the D2 dopamine receptor gene in children with idiopathic short stature

H. Miyake
Kanji Nagashima
Akihiro Morikawa
Research01 Jan 1999
Journal of Human Genetics

Volume: 44, P: 26-29
STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Short tandem repeat mutations in a primate Alu element on chromosome 15q cause activation of a thyroid-specific enhancer, upregulating MIR7-2/MIR1179. This results in defective thyroid proliferation and thyrotropin resistance.

Helmut Grasberger
Alexandra M. Dumitrescu
Samuel Refetoff
Research07 May 2024
Nature Genetics

Volume: 56, P: 877-888

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Allelic variations of the D2 dopamine receptor gene in children with idiopathic short stature

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

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