Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI that had observable inheritance. Exome sequencing data for one of the affected individuals with ichthyosis from a consanguineous Iranian family...

The ichthyoses comprise a group of keratinisation disorders characterised by generalised scaling of the skin. Lamellar ichthyosis (LI) is usually manifested at birth as a collodion baby with ectropion/eclabion. Collodion membrane means encased in a tight shiny covering. It is characterised afterwards by non-bullous scaling of the whole integument with variable erythroderma. LI is a major subtyp...

Autosomal recessive congenital ichthyosis (ARCI) is a diverse group of cornification diseases associated with severe clinical complications and decreased quality life. Germline mutations in the TGM1 gene, which encodes enzyme TGM1, are predominant cause ARCI. These trigger abnormal epidermal differentiation impaired cutaneous barrier function observed patients Unfortunately, current ARCI therap...

To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics. Samples were analyzed after collection on tape circles from six anatomic sites (forearm, palm, lower leg, forehead, abdomen, upper back), demonstrating site-specific differences in profiles. Additional samples were collected ...

A utosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of inherited disorders of keratinisation, with an estimated incidence of one per 200 000 newborns. In Scandinavia, the prevalence is closer to one in 50 000. 3 By electron microscopy, ARCI can be classified into four subgroups—ichthyosis congenita I–IV—and one so far undefined group. Six loci h...

Tissue type (type 2) transglutaminase (TGase, EC 2.3.2.13) has been implicated in various cellular processes including cell death. In order to better understand the role of this enzyme in cell death, human melanocytic A375-S2 cells were treated with sphingosine, a cell-signaling mediator. During the rapid onset of cytotoxicity caused by this lipidic agent, tissue TGase was translocated from the...

A utosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of inherited disorders of keratinisation, with an estimated incidence of one per 200 000 newborns. In Scandinavia, the prevalence is closer to one in 50 000. 3 By electron microscopy, ARCI can be classified into four subgroups—ichthyosis congenita I–IV—and one so far undefined group. Six loci h...

In the process of optimization, we developed a novel core skeleton of thieno[3,4-b]pyrazine via GK-13. The derivatives synthesized were shown to inhibit TGase 2 activity in cancer cells. Some of the hit compounds such as the arylethynyl group-coupled thieno[3,4-b]pyrazine derivatives were shown to exhibit promising activity for use as potential therapeutic small-molecules in renal cancer by inh...