Article
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
The Journal of investigative dermatology - 1 Jun 2008
Lugassy Jennie, McGrath John A, Itin Peter, Shemer Revital, Verbov Julian, Murphy Helen R, Ishida-Yamamoto Akemi, Digiovanna John J, Bercovich Dani, Karin Nathan, Vitenshtein Alon, Uitto Jouni, Bergman Reuven, Richard Gabriele, Sprecher Eli
Abstract excerpt
Naegeli-Franceschetti-Jadassohn syndrome (NFJS) is a rare autosomal dominant disorder characterized by loss of dermatoglyphics, reticulate hyperpigmentation of the skin, palmoplantar keratoderma, abnormal sweating, and other developmental anomalies of the teeth, hair, and skin. We recently demonstrated that NFJS is caused by heterozygous nonsense or frameshift mutations in the E1/V1-encoding region of KRT14, but...
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