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RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis
Recessive X-linked ichthyosis (RXLI), a genetic disorder caused by deletion or point mutations of the steroid sulfatase (STS) gene, is the second most common form of ichthyosis. It is a disorder of keratinocyte cholesterol sulfate retention and the mechanism of extracutaneous phenotypes such as corn...
Autores principales: | McGeoghan, Farrell, Camera, Emanuela, Maiellaro, Miriam, Menon, Manasi, Huang, Mei, Dewan, Priya, Ziaj, Stela, Caley, Matthew P., Donaldson, Michael, Enright, Anton J., O’Toole, Edel A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285781/ https://www.ncbi.nlm.nih.gov/pubmed/37363400 http://dx.doi.org/10.3389/fmolb.2023.1176802 |
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