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Article

KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Molecular medicine reports - 1 Nov 2020

Hu Lingyu, Chen Li, Yang Liu, Ye Zi, Huang Wenhuan, Li Xinxin, Liu Qing, Qiu Junlu, Ding Xiaofeng

Abstract excerpt

Potassium‑channel tetramerization-domain-containing 1 (KCTD1) mutations are reported to result in scalp‑ear‑nipple syndrome. These mutations occur in the conserved broad‑complex, tramtrack and bric a brac domain, which is associated with inhibited transcriptional activity. However, the mechanisms of KCTD1 mutants have not previously been elucidated; thus, the present study aimed to investigate whether KCTD1...

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Identifiers

PMID: 33000225
DOI: 10.3892/mmr.2020.11457
PMCID: PMC7533495

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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