Author

Manuel Lang

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Aug 2026

Isoform-specific regulation of SMARCAD1 dosage in ectodermal homeostasis and dysplasia

It is shown that independent patient-derived mutations impair splicing of SMARCAD1-s, the skin-specific short isoform of the ATP-dependent chromatin remodeller SMARCAD1, resulting in intron retention, providing evidence for a threshold-dependent haploinsufficiency model of disease.

M. Seibert, Lea Kursawe, Manuel Lang et al. · bioRxiv · 0 citations