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Article

ADAM17 variant causes hair loss via ubiquitin ligase TRIM47-mediated degradation.

JCI insight - 21 May 2024

Wang Xiaoxiao, Pan Chaolan, Zheng Luyao, Wang Jianbo, Zou Quan, Sun Peiyi, Zhou Kaili, Zhao Anqi, Cao Qiaoyu, He Wei, Wang Yumeng, Cheng Ruhong, Yao Zhirong, Zhang Si, Zhang Hui, Li Ming

Abstract excerpt

Hypotrichosis is a genetic disorder characterized by a diffuse and progressive loss of scalp and/or body hair. Nonetheless, the causative genes for several affected individuals remain elusive, and the underlying mechanisms have yet to be fully elucidated. Here, we discovered a dominant variant in a disintegrin and a metalloproteinase domain 17 (ADAM17) gene caused hypotrichosis with woolly hair. Adam17 (p.D647N)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38771644
DOI: 10.1172/jci.insight.177588
PMCID: PMC11383180

Genes

ADAM17
TRIM47

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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