Desmosomes are the major players in epidermis and cardiac muscles and contribute to intercellular binding and maintenance of tissue integrity. Two important constituents of desmosomes are transmembrane cadherins named desmogleins and desmocollins. The critical role of these desmosomal proteins in epithelial integrity has been illustrated by their disruption in mouse models and human diseases. In the present study, we have investigated a large family from Afghanistan in which four individuals are affected with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation. All four affected individuals showed sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid were observed on the affected individuals' scalps and on most of the skin covering their bodies. A scalp-skin biopsy of an affected individual showed mild hair-follicle plugging. Candidate-gene-based homozygosity linkage mapping assigned the disease locus to 8.30 cM (8.51 Mbp) on chromosome 18q12.1. A maximum multipoint LOD score of 3.30 (theta = 0.00) was obtained at marker D18S877. Sequence analysis of four desmoglein and three desmocollin genes, contained within the linkage interval, revealed a homozygous nonsense mutation (c.2129T>G [p.Leu710X]) in exon-14 of the desmocollin-3 (DSC3) gene.

Single-atom catalysts (SACs) composing of low-cost, earth-abundant metals, with two-dimensional material supports have displayed great potential in a wide range of electrochemical reactions, including CO2 reduction reaction (CO2RR) to convert...

Ammonia electro-oxidation is an extremely significant reaction with regards to the nitrogen cycle, hydrogen economy, and wastewater remediation. The design of efficient electrocatalysts for use in the ammonia electro-oxidation reaction (AOR) requires comprehensive understanding of the mechanism and intermediates involved. In this study, aggregation-induced emission (AIE), a robust fluorescence sensing platform, is employed for the sensitive and qualitative detection of hydrazine (N 2 H 4 ), one of the important intermediates during the AOR. Here, we successfully identified N 2 H 4 as a main intermediate during the AOR on the model Pt/C electrocatalyst using 4-(1,2,2-triphenylvinyl)benzaldehyde (TPE-CHO), an aggregation-induced emission luminogen (AIEgen). We propose the AOR mechanism for Pt with N 2 H 4 being formed during the dimerization process (NH 2 coupling) within the framework of the Gerischer and Mauerer mechanism. The unique chemodosimeter approach demonstrated in this study opens a novel pathway for understanding electrochemical reactions in depth.