Proximal spinal muscular atrophy (SMA) is a neurodegenerative disease caused by low levels of the survival motor neuron (SMN) protein. In humans, SMN1 and SMN2 encode the SMN protein. In SMA patients, the SMN1 gene is lost and the remaining SMN2 gene only partially compensates. Mediated by a C>T nucleotide transition in SMN2, the inefficient recognition of exon 7 by the splicing machinery resul...

Hepcidin is an innate immune element which decreases the iron absorption from diet and iron releasing from macrophage cell. In contrast to the chemical iron chelators, there has been limited effort applied to the specific use of hepcidin as a new drug for decreasing the iron overload. Hepcidin is produced in different biological systems. For instance, E-coli is used for human hepcidin expressio...

Abstract Pediatric low-grade gliomas (PLGGs) are the most common brain tumors in children, with varying degrees of invasion. Recent whole-genome sequencing has identified a rare gene fusion involving RAF1, RAF isoform. Unlike other fusions, RAF1 fusions resistant to existing inhibitors. Therefore, aside from surgical resection adjuvant chemotherapy and radiation therapy, there few targeted ther...

objective: leukemia inhibitory factor (lif) plays important roles in cellular proliferation, growth promotion and differentiation of various types of target cells. in addition, lif influences bone metabolism, cachexia, neural development, embryogenesis and inflammation. human lif (hlif) is an essential growth factor for the maintenance of mouse embryonic stem cells (escs) and induced pluripoten...

The Sin Nombre virus (SNV) is the etiologic agent of hantavirus pulmonary syndrome in humans but does not cause disease in chronically infected deer mice (Peromyscus maniculatus), the natural host. In this study, murine antiserum raised against recombinant SNV nucleocapsid protein was utilized to localize viral antigen immunohistochemically in tissues from both humans (n = 20; 11 positive, 9 ne...

The adenomatous polyposis coli (APC) gene product mediates coordinated cell growth in the intestinal mucosa. In humans, germ-line mutations of APC are associated with colorectal carcinogenesis, a process that varies in severity depending on the length of the protein resulting from the mutant allele. In a previous study of the C57BL/6J-Min/+ (Min/+) mouse, we found that the protein fragment resu...

In a mouse model of Alzheimer’s disease, interleukin-3 protein released by cells called astrocytes activates microglia, the immune brain. These then cluster around disease-associated aggregates and help to clear them. An immune-signalling axis in brain helps reduce plaques.

Ethylene (ET) is metabolized in mammals to the carcinogenic ethylene oxide (EO). Although both gases are of high industrial relevance, only limited data exist on the toxicokinetics of ET in mice and of EO in humans. Metabolism of ET is related to cytochrome P450-dependent mono-oxygenase (CYP) and of EO to epoxide hydrolase (EH) and glutathione S-transferase (GST). Kinetics of ET metabolism to E...

Objectives: Nephrin is a component of the slit diaphragm between podocyte foot processes. Deficiencies or mutations of nephrin protein result in the nephrotic syndrome in humans. This study was designed to establish a mouse model of nephrotic syndrome using rabbit IgG against mouse nephrin cDNA. Methods: Female New Zealand White rabbits were immunized 4 times every 2 weeks with 30μg expression ...