Article

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

2026-08-17

Abstract excerpt

Haploinsufficiency is a common cause of developmental disorders, yet the mechanisms regulating protein abundance of dosage-sensitive genes remain incompletely understood. SMARCAD syndrome comprises inherited ectodermal dysplasias caused by mutations affecting SMARCAD1-s, the skin-specific short isoform of the ATP-dependent chromatin remodeller SMARCAD1. Here, we show that independent patient-derived mutations impa...

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Literature Corpus work: 3931ad96-7fb1-5d95-905b-61c7fbfd48ed
DOI: 10.64898/2026.08.17.745107

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