Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing.

Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700). Genetic testing is important in the diagnosis, clinical management, and prevention of AIS (MIM# 300,068). The AR (HGNC: 644) pathogenic variant detection rate ranges from 65% to 95% for patients with complete AIS (CAIS) and 40%-45% for patients with partial androgen insensitivity syndrome (PAIS).

Metagenomic sequencing reveals the relationship between microbiota composition and quality of Chinese Rice Wine.

Chinese Rice Wine (CRW) is a common alcoholic beverage in China. To investigate the influence of microbial composition on the quality of CRW, high throughput sequencing was performed for 110 wine samples on bacterial 16S rRNA gene and fungal Internal Transcribed Spacer II (ITS2). Bioinformatic analyses demonstrated that the quality of yeast starter and final wine correlated with microbial taxonomic composition, which was exemplified by our finding that wine spoilage resulted from a high proportion of genus Lactobacillus.

Exploration on mechanism of a new type of melatonin receptor agonist Neu-p11 in hypoxia-reoxygenation injury of myocardial cells.

To explore the mechanism of a new type of melatonin receptor agonist Neu-p11 in hypoxia-reoxygenation injury of myocardial cells. Hypoxia/reoxygenation (H/R) model of H9c2 myocardial cells was established, and the cells were divided into control group, H/R group, and Neu-p11 group. Apoptosis rates of myocardial cells in different groups, the contents of creatinine kinase (CK), lactic dehydrogenase (LDH), superoxide dismutase (SOD), and malondialdehyde (MDA) in cell culture media were compared.

[Detection of somatic mutations in deteriorated cell of peritoneal mesothelioma by whole genome sequencing].

Objective: To detect the somatic mutations in peritoneal mesothelioma with whole genome sequencing technique.

Methods: Surgically resected cancer and pericancerous tissue samples from one patient with peritoneal mesothelioma were obtained. The whole genome sequences of tumor tissue and pericancerous tissue were examined by the second generation sequencing technique and compared with reference sequences from human genome database.

Microbial community structure in fermentation process of Shaoxing rice wine by Illumina-based metagenomic sequencing.

Background: To understand the role of the community structure of microbes in the environment in the fermentation of Shaoxing rice wine, samples collected from a wine factory were subjected to Illumina-based metagenomic sequencing.

Results: De novo assembly of the sequencing reads allowed the characterisation of more than 23 thousand microbial genes derived from 1.7 and 1.

[Effects of wenhua juanbi recipe on the gene expression profile of the synovium in collagen-induced arthritic rats].

Objective: To study the effects of Wenhua Juanbi recipe (WJR) on the gene expression profile of the synovium in collagen-induced arthritis (CIA) rats, and to explore its mechanisms for treating CIA.

Methods: The CIA model was induced by intradermal injection of bovine collagen type II emulsion from the tail of 40 healthy male Wistar rats. Selected 16 successfully modeled rats were randomly divided into the model group and the WJR-treated group, 8 in each group.

Acute hepatic failure-derived bone marrow mesenchymal stem cells express hepatic progenitor cell genes.

Hepatic progenitor cell (HPC) transplantation is a promising alternative to liver transplantation for patients with end-stage liver disease. However, the precise origin of HPCs is unclear. This study aimed to determine whether bone marrow mesenchymal stem cells (BMSCs) isolated from rats in acute hepatic failure (AHF) possess hepatic potential and/or characteristics.

Hereditary gingival fibromatosis: a three-generation case and pathogenic mechanism research on progress of the disease.

Background: Hereditary gingival fibromatosis (HGF) is a rare benign disorder characterized by progressive overgrowth of gingiva. Although the clinical and histopathologic characteristics of HGF are explicit, the pathogenic mechanism remains unclear. The goal of this article is to describe a three-generation HGF case and discuss the diagnosis, treatment, and inheritance of the disease.

Familial syndrome resembling Aarskog syndrome.

Aarskog(-Scott) syndrome (AAS) is characterized by short stature, and facial, limb, and genital anomalies. AAS can be an X-linked condition caused by mutations in the FGD1 gene, but there is evidence that an autosomal dominant or recessive form also exists. We report on a Chinese family in whom several members have manifestations of AAS, but differ in limb anomalies and show additional characteristics.

Transcriptional profiling and hepatogenic potential of acute hepatic failure-derived bone marrow mesenchymal stem cells.

Unlabelled: Liver stem cell (LSC) transplantation is a promising alternate approach to liver transplantation for patients with end-stage liver disease. However, the precise origin of LSCs remains unclear. Herein we determine if bone marrow mesenchymal stem cells (BMSCs) isolated from rats in acute hepatic failure (AHF) possess hepatic characteristics and have differentiation potential.

The immunostimulating effect of bacterial genomic DNA on the innate immune responses of bivalve mussel, Hyriopsis cumingii Lea.

The genomic DNA of Escherichia coli, which contains the unmethylated CpG motif, was used to evaluate the immunostimulating effect of bacterial DNA on innate immune responses in the bivalve mussel Hyriopsis cumingii Lea. The results showed that the E. coli DNA had no significant effect on the production of superoxide anion (O(2-)) or acid phosphatase (AP) by haemocytes in vitro.