A rare missense mutation causes atypical aniridia in a three-generation Chinese family.

Aim: To investigate the molecular diagnosis of a three-generation Chinese family affected with aniridia, and further to identify clinically a missense mutation in members with atypical aniridia.

Methods: Eleven family members with and without atypical aniridia were recruited. All family members underwent comprehensive ophthalmic examinations.

Autophagy-prominent cell clusters among human lens epithelial cells: integrated single-cell RNA-sequencing analysis.

Background: Autophagy is an important process that maintains the quality of intracellular proteins and organelles. There is extensive evidence that autophagy has an important role in the lens. Human lens epithelial cells (HLECs) play a key role in the internal homeostasis of the lens.

Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome.

Background: Congenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Although several causative genes have been reported in patients with CCMC, the genetic etiology of CCMC is yet to be clearly understood.

Purpose: To unravel the genetic cause of autosomal dominant family with CCMC.

A palladium-catalyzed multi-component annulation approach towards the synthesis of phenanthrenes.

An efficient palladium-catalyzed three-component cascade reaction has been developed for the facile construction of phenanthrene frameworks. The transformation is driven by a controlled reaction sequence of Suzuki-Miyaura coupling followed by the insertion of alkynes, and finally, annulation to yield phenanthrene derivatives via C-H activation. This methodology is able to accommodate a variety of substrates and affords the anticipated products in good to excellent yields.

A Pd-catalyzed optional approach for the synthesis of dibenzothiophenes.

A direct and practical approach for the construction of DBTs was developed via a Pd-catalyzed tandem reaction, in which commercially available o-bromo-iodobenzenes combined with benzene thiols or iodobenzenes combined with o-bromo-benzene thiols were applied. These two approaches will provide an alternative for the synthesis of DBT derivatives.

Purification of a fucoidan from kelp polysaccharide and its inhibitory kinetics for tyrosinase.

High-speed countercurrent chromatography (HSCCC) was used to separate kelp polysaccharide. HSCCC was performed using an aqueous two-phase solvent system composed of PEG1000-K₂HPO₄-KH₂PO₄-H₂O (0.5:1.

[Cholesterol-degrading by Lactobacillus plantarum LpT1 and LpT2 in vitro].

Objective: To explore the mechanism of cholesterol-degrading by Lactobacillus plantarum LpT1 and LpT2 in vitro.

Methods: After Lactobacillus plantarum LpT1 and LpT2 being inoculated and cultured in the medium MRS, MRS +CH, MRS + CH + S and MRS + CH + N, the cholesterol content in supernatant, deposit and cells, and the total cholesterol content before and after inoculation were determined and compared to primarily predict the mechanism of cholesterol-degrading by L. plantarum.