Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.

Kallmann syndrome (KS) is a rare developmental disorder that manifests as congenital hypogonadotropic hypogonadism with anosmia. More than 19 genes have been found to be associated with KS. However, approximately 70% of the causes of KS remain unclear.

Identification of Novel Variants in MEN1: A Study Conducted with Four Multiple Endocrine Neoplasia Type 1 Patients.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited endocrine tumor syndrome caused by inactivating variants of the gene. The aim of this study is to explore the clinical and genetic characteristics of four MEN1 patients. We isolated genomic deoxyribonucleic acid from lymphocytes, parathyroid, and thymic tumoral tissue specimens from the MEN1 patients.

Acid Sphingomyelinase Mediates Oxidized-LDL Induced Apoptosis in Macrophage via Endoplasmic Reticulum Stress.

Aim: Macrophage apoptosis is a vital event in advanced atherosclerosis, and oxidized low-density lipoprotein (ox-LDL) is a major contributor to this process. Acid sphingomyelinase (ASM) and ceramide are also involved in the induction of apoptosis, particularly in macrophages. Our current study focuses on ASM and investigates its role in ox-LDL-induced macrophage apoptosis.

A 3' splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II.

The purpose of this study was to identify the underlying genetic cause in a four generation Chinese family diagnosed with mucopolysaccharidosis type II. Peripheral blood samples were collected from family members and the iduronate-2-sulfatase (IDS) gene was analyzed by DNA sequencing. The impact of IDS mutations on mRNA transcription was determined by quantitative real-time RT-PCR (qRT-PCR) in both patients as well as in healthy control samples.

[Construction of eukaryotic expression vector of human TSARG4 and establishment of its stable transfected HeLa cell line].

Aim: To construction of eukaryotic expression vector of human TSARG4 and establishment of its stable transfected Hela cell line.

Methods: The open reading frame (ORF) of TSARG4 was amplified from human testis by RT-PCR. The PCR products were cloned into pUCm-T vectors and sequenced.

[Effect of different glucose concentrations on the expressions of insig-1 and insig-2 mRNA during the differentiation of 3T3-L1 cells].

Objective: To determine the effect of different concentrations of glucose on the differentiation of 3T3-L(1) and the expression of insig-1 and insig-2 mRNA, and to explore the effect of insulin-induced gene in the differentiation and formation of adipocytes and lipogenesis.

Methods: The 3T3-L(1) cells were induced to differentiate in high glucose concentration (25 mol/L G.S), low glucose concentration (5.

[Construction and expression of fusion gene eukaryotic expression plasmid of pEGFP-C(3)-insig2 and its influence to downstream genes].

Aim: To construct the eukaryotic expression plasmid of insig2 gene and detect the expression of downstream gene adiponectin and adipocyte fatty acid-binding protein 2 (AP2) after the transfection of 3T3-L1 cells.

Methods: Insig2 gene of the mouse was amplified by RT-PCR and then cloned into the eukaryon expression vector pEGFP-C(3), After confirmed by double restriction enzyme digestion analysis and DNA sequencing, pEGFP-C(3)-insig2 was transfected into 3T3-L1 cells by lipofectamine 2000. The expression of insig2 and downstream gene in the 3T3-L1 cells were detected by RT-PCR and fluorescence microscope.