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Article

Human ACVR1C missense variants that correlate with altered body fat distribution produce metabolic alterations of graded severity in knock-in mutant mice

1 Feb 2024

Abstract excerpt

BACKGROUND & AIMS: Genome-wide studies have identified three missense variants in the human gene ACVR1C, encoding the TGF-β superfamily receptor ALK7, that correlate with altered waist-to-hip ratio adjusted for body mass index (WHR/BMI), a measure of body fat distribution. METHODS: To move from correlation to causation and understand the effects of these variants on fat accumulation and adipose tissue function,...

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PMID: 38307384
DOI: 10.1016/j.molmet.2024.101890

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