Crystal facet and Na-doping dual engineering ultrathin BiOCl nanosheets with efficient oxygen activation for enhanced photocatalytic performance.

Photocatalytic oxidation (PCO) based on semiconductors offers a sustainable and promising way for environmental remediation. However, the photocatalytic performance currently suffers from weak light-harvesting ability, rapid charge combination and a lack of accessible reactive sites. Ultrathin two-dimensional (2D) materials are ideal candidates to overcome these problems and become hotpots in the research fields. Herein, we demonstrate an ultrathin (<4 nm thick) Na-doped BiOCl nanosheets with {001} facets (Na-BOC-001) fabricated via a facile bottom-up approach. Because of the synergistic effect of highly exposed active facets and optimal Na doping on the electronic and crystal structure, the Na-BOC-001 showed an upshifted conduction band (CB) with stronger reduction potential for O2 activation, more defective surface for enhanced O2 adsorption, as well as the highest visible-light driven charge separation and transfer ability. Compared with the bulk counterparts (BOC-010 and BOC-001), the largest amount of active species and the best photocatalytic performance for the tetracycline hydrochloride (TC) degradation were achieved for the Na-BOC-001 under visible-light irradiation, even though it had slightly weaker visible-light absorption ability. Moreover, the effect of the Na doping and crystal facet on the possible pathways for TC degradation was investigated. This work offers a feasible and economic strategy for the construction of highly efficient ultrathin 2D materials.

Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.

A partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase (HMBS) leads to acute intermittent porphyria (AIP), a severe neurovisceral, autosomal dominant disorder with low penetrance. Even though in-depth investigations of the HMBS variants have been carried out by researchers in Britain, France, Russia, and Sweden, this area remains uninvestigated in China owing to the rarity and lack of clinical understanding of the disease. In this study, 78 unrelated AIP patients revealed 48 different HMBS variants, of which 17 were novel. These included 22 missense variants, 9 splicings, 5 nonsense variants, 10 small deletions, 1 repeat insertion, and 1 complex deletion-insertion variant. The variant c.673C > T, found in 10 unrelated patients, was the most frequent variant, followed by the variant c.517C > T, found in 7 unrelated patients. We performed western blotting and immunofluorescence staining with four novel variants (c.653G > A, c.597dupC, c.726-727del, and c.1045_1046delAA) to detect the expression levels of mutant HMBSs. The results showed a variant-mediated decrease in the mutant-HMBS level, suggesting that the variant resulted in impaired gene product functions. Moreover, the in vitro functional verification in this study provided PS3_moderate evidence for American College of Medical Genetics and Genomics (ACMG) to grade the pathogenicity of novel variants in AIP.