Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Σάββατο 23 Δεκεμβρίου 2017

Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling Degos Disease firm up a role for Notch signalling in the pathogenesis of this disorder

Abstract

We read with great interest the article by Pavlovsky et al;1 describing PSENEN mutations associated with hidradenitis suppurativa-Dowling Degos Disease (HS-DDD) and suggesting a role for Notch signalling in the pathogenesis of this disorder. The literature also describes mutations in the POFUT1 gene as causative genetic defects in Dowling Degos Disease.2 Decreased Notch activity is associated with mutations in POFUT1.

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