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Article

ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH.

Pharmacogenetics and genomics - 1 Feb 2010

Ding Ying-Xue, Zou Li-Ping, He Bing, Yue Wei-Hua, Liu Zhan-Li, Zhang Dai

Abstract excerpt

OBJECTIVE: Adrenocorticotropin hormone (ACTH) has been the standard treatment to infantile spasms (IS). However, the mechanism of ACTH therapy is still unclear. ACTH exerts the function via melanocortin 2 receptor (MC2R). Our previous study showed a common 4-single nucleotide polymorphism (SNP) haplotype TCCT at the MC2R promoter was strongly associated with responsiveness to ACTH therapy, where these 4 SNPs...

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Share to Adrenocorticotropic Hormone
Share to Cloning, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to Infant, Newborn

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Share to Spasms, Infantile

Share to Transcription, Genetic

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Identifiers

PMID: 20042918
DOI: 10.1097/FPC.0b013e328333a172

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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