The human genome encodes nine enzymes belonging to the patatin-like phospholipase
domain-containing lipase (PNPLA)/Ca 2+-independent phospholipase A 2 (iPLA 2) family …

The skin is a flexible organ that forms a barrier between the environment and the body's
interior; it is involved in the immune response, in protection and regulation, and is a dynamic …

Mutations in patatin-like phospholipase domain-containing 1 (PNPLA1) cause autosomal
recessive congenital ichthyosis, but the mechanism involved remains unclear. Here we …

Mutations in PNPLA1 have been identified as causative for autosomal recessive congenital
ichthyosis in humans and dogs. So far, the underlying molecular mechanisms are unknown …

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic
genodermatoses that encompasses non-syndromic disorders of keratinization. The …

Autosomal recessive congenital ichthyosis is a heterogeneous group of disorders
associated with mutations in at least nine distinct genes. To ascertain the molecular basis of …

Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically
heterogeneous group of rare Mendelian skin disorders characterized by cornification and …

DEAR EDITOR, The ichthyoses are rare skin disorders linked by the common finding of
scale and concomitant barrier function abnormalities. Recently, mutations in PNPLA1, which …

The term autosomal recessive congenital ichthyosis (ARCI) is the subgroup of ichthyosis,
which describes a highly heterogeneous group of genetic disorders of the skin characterized …

Background Autosomal recessive ichthyosis with hypotrichosis (ARIH; MIM 602400)
syndrome is characterized by diffused congenital ichthyosis and generalized non-scarring …