Comprehensive analysis of genomic complexity in the 5' end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencing.

Background: Dystrophinopathies are the most common X-linked inherited muscle diseases, and the disease-causing gene is DMD. Exonic duplications are a common type of pathogenic variants in the DMD gene, however, 5' end exonic duplications containing exon 1 are less common. When assessing the pathogenicity of exonic duplications in the DMD gene, consideration must be given to their impact on the reading frame.

The gut microbiota composition and metabolites are different in women with hypertensive disorders of pregnancy and normotension: A pilot study.

Introduction: Hypertensive disorders of pregnancy (HDP) are one of the main causes of perinatal morbidity. Gut microbiota influences host inflammatory pathways, glucose, and lipid metabolism. However, there is a lack of studies available on gut microbiota in HDP.

Mutation in Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Congenital skin disorders are a class of complex genetic diseases that are difficult to diagnose and treat. We developed trio whole-exome sequencing-plus (WES-plus) for detecting mutations and evaluated the use of traditional Chinese medicine (TCM) for treating congenital skin disorders. In this study, we successively performed panel-based next-generation sequencing (NGS) and Trio WES-plus in a child with frequent large blisters.

Highly diastereo- and enantioselective construction of a spiro[cyclopenta[b]indole-1,3'-oxindole] scaffold via catalytic asymmetric formal [3+2] cycloadditions.

An organocatalytic asymmetric formal [3+2] cycloaddition of isatin-derived 3-indolylmethanol with 3-methyl-2-vinylindole has been established, leading to highly stereoselective construction of a spiro[cyclopenta[b]indole-1,3'-oxindole] scaffold with the concomitant creation of three contiguous stereogenic centers (72-99% yield, all >95 : 5 dr, 90-98% ee), one of which is an all-carbon quaternary stereogenic center.