[Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency].

Objective: To explore the genetic etiology of a child suspected for β-ketothiolase deficiency by neonatal screening.

Methods: All coding exons and flanking sequences of the ACAT1 gene were subjected to targeted capture and high-throughput sequencing. Suspected variants were verified by Sanger sequencing and bioinformatic analysis.

SOX5 promotes breast cancer proliferation and invasion by transactivation of EZH2.

Sex determining region Y-box protein 5 (SOX5) is a transcriptional factor and serves important roles in various cancer types; however, the pathological role of SOX5 in patients with breast cancer remains unclear. In the present study, the expression and potential role of SOX5 in patients with breast cancer and in breast cancer cells was investigated. The data indicated that SOX5 was highly expressed in breast cancer tissues compared with adjacent healthy tissues, and overexpression of SOX5 was associated with a reduced overall survival rate in patients with breast cancer.

Natural killer cells inhibit metastasis of ovarian carcinoma cells and show therapeutic effects in a murine model of ovarian cancer.

Ovarian cancer has the highest mortality rate and is the most common of all gynecologic malignancies. Novel treatments for ovarian cancer are urgently required to improve outcomes and the overall survival of patients. The present study investigated whether immunotherapy with natural killer (NK) cells affected the survival of mice with ovarian cancer.

Insights from lncRNAs Profiling of MIN6 Beta Cells Undergoing Inflammation.

Type 1 diabetes mellitus (T1DM) is an organ-specific autoimmune disease characterized by chronic and progressive apoptotic destruction of pancreatic beta cells. During the initial phases of T1DM, cytokines and other inflammatory mediators released by immune cells progressively infiltrate islet cells, induce alterations in gene expression, provoke functional impairment, and ultimately lead to apoptosis. Long noncoding RNAs (lncRNAs) are a new important class of pervasive genes that have a variety of biological functions and play key roles in many diseases.

Overexpression of histone demethylase JMJD5 promotes metastasis and indicates a poor prognosis in breast cancer.

In this study, we showed the expression of JMJD5 was increased in breast cancer tissues and breast adenocarcinoma cell lines MCF-7 as well as triple negative breast cancer cell lines MDA-MB-231 compared with paired adjacent normal mammary tissues and normal mammary epithelial cell lines MCF-10A. The higher expression of JMJD5 was significantly corresponded with clinical stage, histological grade and lymph node metastasis. Overexpression of JMJD5 promoted cell invasion and induce EMT, while JMJD5 siRNA inhibits MDA-MB-231 cells invasion in vitro.