Lamellar ichthyosis is a congenital recessive skin disorder characterized by generalized scaling and hyperkeratosis. It is caused by mutations in the TGM1 gene that encodes the transglutaminase 1 (TGase 1) enzyme, which is critical for the assembly of the cornified cell envelope in terminally differentiating keratinocytes. TGase 1 is a complex enzyme existing as both cytosolic and membrane-boun...

Bathing suit ichthyosis (BSI) is a striking and unique clinical form of autosomal recessive congenital ichthyosis characterized by pronounced scaling on the bathing suit areas but sparing of the extremities and the central face. Here we report on a series of 10 BSI patients. Our genetic, ultrastructural and biochemical investigations show that BSI is caused by transglutaminase-1 (TGase-1) defic...

Immuno-PCR combines specific antibody-based protein detection with the sensitivity of PCR-based quantification through the use of antibody-DNA conjugates. The production of such conjugates depends on the availability of quick and efficient conjugation strategies for the two biomolecules. Here, we present an approach to produce cleavable antibody-DNA conjugates, employing the fast kinetics of th...

Transglutaminase 3 (TGase 3) is a member of a family of Ca2+-dependent enzymes that catalyze covalent cross-linking reactions between proteins or peptides. TGase 3 isoform is widely expressed and is important for effective epithelial barrier formation in the assembly of the cell envelope. Among the nine TGase enzyme isoforms known in the human genome, only TGase 2 is known to bind and hydrolyze...

BACKGROUND Nasal fractures have a tendency of resulting in structural or functional complications, and the results can vary according to the type of nasal bone fracture. The aim of this study was to evaluate the objective postoperative results according to the type of nasal bone fractures. METHODS We reviewed 313 patients who had a closed reduction of nasal bone fracture. The classification o...

Harlequin ichthyosis is a life threatening rare skin condition characterized by aberrant differentiation of the epidermis leading to severe barrier defect. It caused mutations in ABCA12 lipid transporter involved transport glucosylceramides from lamellar body lamellae. The current therapeutic approach consists topical emollients and oral administration retinoids causing side effects, so there a...

Dawei Gao1, Qingwang Li1,2†, Zhiwei Liu1, Ying Li1, Zhihua Liu2, Yusheng Fan2, Zengsheng Han1 & Jian Li1 †Author for correspondence 1Department of Biological Engineering, Yanshan University, No.438 Hebei Street, Qinhuangdao 066004, PR, China Tel.: +86 139 3033 8376; Fax: +86 335 806 1569; Email: [email protected] 2College of Animal Science and Technology, Northwest A&F University, No.2...

Ammonia stress can inhibit the survival and growth, and even cause mortality of shrimp. In this study, ammonia-metabolizing enzyme activities and gene expression were compared between two strains of L. vannamei under different ammonia-N ([Formula: see text]) concentrations (3.4, 13.8, and 24.6 mg/L). The results showed that elevated ammonia concentrations mainly increased glutamine synthetase (...

The transglutaminase 1 (TGase 1) enzyme is essential for the assembly of the cell envelope barrier in stratified squamous epithelia. It is usually bound to membranes, but to date most studies with it have involved solution assays. Here we describe an in vitro model system for characterizing the function of TGase 1 on the surface of synthetic lipid vesicles (SLV) of composition similar to eukary...

For the first time, retinol has been associated with Vitreoscilla filiformis extract (a probiotic fraction regenerative properties). The efficacy of this new combination was assessed in vitro and confirmed clinical trials. Normal human keratinocytes were treated or not Retinol (0.1 μM), (1.4 x 10-4%) their for 24 hours. Gene expression then evaluated by RT-qPCR. In addition, trials performed to...