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Article

Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.

Archives of dermatological research - 1 Jul 2012

Dahlqvist Johanna, Westermark Gunilla T, Vahlquist Anders, Dahl Niklas

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a group of disorders characterized by abnormal desquamation of the skin and a disrupted epidermal water barrier. Ichthyin/NIPAL4 gene mutations have been identified in a subgroup of ARCI patients, but the role of ichthyin in epidermis remains elusive. In order to obtain new insights concerning the characteristics of ichthyin and the ARCI pathogenesis, we studied...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22258272
DOI: 10.1007/s00403-012-1207-7

Genes

NIPAL4

Provenance

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