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

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...

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Publicado en:Mol Med Rep
Autores principales: Hu, Lingyu, Chen, Li, Yang, Liu, Ye, Zi, Huang, Wenhuan, Li, Xinxin, Liu, Qing, Qiu, Junlu, Ding, Xiaofeng
Formato: Artigo
Lenguaje:Inglês
Publicado: D.A. Spandidos 2020
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7533495/
https://ncbi.nlm.nih.gov/pubmed/33000225
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2020.11457
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