S Frateschi, E Camerer, G Crisante… - Nature …, 2011 - nature.com Altered serine protease activity is associated with skin disorders in humans and in mice. The serine protease channel-activating protease-1 (CAP1; also termed protease serine S1 family member 8 (Prss8)) is important for epidermal homeostasis and is thus indispensable for ... Cited by 1 - All 3 versions
D Khnykin, J Rønnevig, M Johnsson… - Journal of the American …, 2011 - Elsevier IPS was characterized prenatally by ultrasound findings of polyhydramnios, separation of membranes, echogenic amniotic fluid, and clear chorionic fluid. All patients were born prematurely with sometimes life-threatening neonatal asphyxia; this was likely caused by aspiration of ...
MCG Winge, T Hoppe, A Liedén… - Journal of …, 2011 - jdsjournal.com ... NEED REPRINTS? BOOKMARK ARTICLE. Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis. ... Cached - All 3 versions
S Israeli, Z Khamaysi, D Fuchs-Telem… - The American Journal of …, 2011 - Elsevier Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset ... Related articles - All 2 versions
R Gruber, PM Elias, D Crumrine, TK Lin… - The American journal of …, 2011 - Elsevier Although it is widely accepted that filaggrin (FLG) deficiency contributes to an abnormal barrier function in ichthyosis vulgaris and atopic dermatitis, the pathomechanism of how FLG deficiency provokes a barrier abnormality in humans is unknown. We report here that the presence ... Cited by 1 - Related articles - All 5 versions