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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...
Guardat en:
| Publicat a: | Mol Med Rep |
|---|---|
| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
D.A. Spandidos
2020
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| Matèries: | |
| Accés en línia: | 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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