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PAR2 absence completely rescues inflammation and ichthyosis caused by altered CAP1/Prss8 expression in mouse skin

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

Ichthyosis prematurity syndrome: Clinical evaluation of 17 families with a rare disorder of lipid metabolism

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 ...

Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis

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

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

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

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function

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

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