Cellular prion protein (PrPC) is a highly conservative and widely expressed anchored glycoprotein of glycosylphosphatidyl inositol (GPI), located in lipid rafts. In mammals, PrPC is abundantly distributed in the reticuloendothelial system and central nervous system. Current research suggests that the physiological function of PrPC is related to the diseases of central nervous system and carcinogenesis. In this paper, the progress on the structure, tissue distribution and related diseases of PrPC is reviewed. Key words: PrPC; Molecular structure; Relative diseases

Objective To identify hypertension-related Long non-coding RNA (lncRNA) and its function in hypertension. Methods The global lncRNA-mRNA network was constructed by competing endogenous RNA theory. We downloaded and re-annotated the expression profile of hypertension from GEO and identified the differential expression genes and lncRNAs. Then we mapped them to the global lncRNA-mRNA network to obtain a hypertension lncRNA-gene network. Next, the characteristics of the network topology were analyzed to obtain hypertension-related lncRNA. For hypertension-related lncRNAs, the genes linked to it were performed pathway enrichment analysis by DAVID tool to predict the function of the hypertension-related lncRNA. Results A hypertension-related lncRNA-gene network (58 lncRNAs, 431 genes and 4737 edges) was constructed. By topological analysis of the network, we found that lncRNA MALAT1 played a very important role in hypertension, and it may played a regulatory role through TNF signaling pathway and MAPK signal pathway. Conclusion lncRNA MALAT1 is important in the pathogenesis of hypertension, which may play a regulatory role through TNF signaling pathway and MAPK signal pathway. Key words: Hypertension; lncRNA; ceRNA network

As disease genes of cerebral cavernous malformations, mutated CCM genes were initially considered only relating to the occurrence of cerebral cavernous malformations. further research of the genes and its encoding products confirm that CCM genes can participate in a variety of biological processes, including the Occurrence and the development of tumor. This article discusses recent understandings of the underlying mechanisms of CCM genes in different types of cancer based on a reciew of their structures, functions and interactions of CCM genes, and likely provide new prespectives and clues for further study of mechanism uderlying tumorigenesis. Key words: CCM1; CCM2; CCM3; Cancer; Cerebral Cavernous Malformations

Objective To identify the pathogenic mutation underlying proximal symphalangism in a Chinese family. Methods A five-generation family showing an autosomal dominant transmission of proximal symphalangism was examined. To screen the pathogenic mutation in NOG and GDF5, we PCR-amplified the exons and exon-intron boundaries of the two genes and sequenced them directly after purification. Results We found a novel heterozygous missense mutation, c. 502 T>C, in NOG. This mutation led to a substitution of phenylalanine by leucine at amino acid residue 168 of Noggin (p.F168L). The mutation co-segregated with the limb phenotype of all the family members but was not present in public databases (dbSNP and ExAC) or 200 control individuals. Conclusion The c. 502 T>C mutation in NOG is a novel pathogenic mutation for the proximal symphalangism phenotype in this family. Key words: Proximal symphalangism; the NOG gene; Pathogenic mutation

Objective To analyze the expression of coagulation factor Ⅲ in chlorpromazine (CPZ)-treated rat cortex. Methods Wistar rats (n=6) were assigned to normal control and CPZ treated groups. The rats of CPZ treated group were injected intraperitoneally with CPZ (5 mg/kg, 10 mg/kg and 20 mg/kg for single-injection or once-daily injection (10 mg/kg) continuously for 2 weeks. Immunohistochemistry and Western blot analysis were performed to examine the expression level of coagulation factor Ⅲ in rat cortex. Results Immunohistochemistry results showed that both the single and continuous repeated use of CPZ (10 mg/kg) could lead to a significant increase in coagulation factor Ⅲ expression in rat cortex compared to control subjects (P=0.0007, 0.0005). Quantification of the Western blot indicates that both the 10 mg/kg and 20 mg/kg dose of CPZ single injection significantly increased the coagulation factor Ⅲ expression level in rat cortex (P=0.0141, 0.0163). Similarly, continuous treatment of CPZ (10 mg/kg) also resulted in a significant increase of coagulation factor Ⅲ in rat cortex compared with the untreated control group (P=0.009). Conclusion CPZ could up-regulate the coagu-lation factor Ⅲ expression in rat cortex. Except for the dopamine receptor and calmodulince, coagulation factor Ⅲ is also a target protein of CPZ. Key words: Chlorpromazine; Rat; Cortex; Coagulation Factor Ⅲ

Transient receptor potential vanilla receptor and family 3 (transient receptor potential vanilloid 3, TRPV3) is a nonselective cation channels protein on the cell membrane, and mainly expressed in human skin keratinocytes. TRPV3 is involved in mediating calcium ion transfer, influences epidermis keratinocytes proliferation and differentiation, participates in the inflammatory response, and plays an important role in adjusting temperature feel, paining feel, itching feel of skin, and other biological processes. In this review, we summarized the studies on association of TRPV3 with genetic keratoderma, skin itch, inflammation and pain related research progress, to reveal TRPV3 mechanism of the role of genes in skin disorders. We will provide the scientific theoretical basis for revealing the functional mechanism of TRPV3 in skin dysfuction. Key words: TRPV3; Skin function; Sensory transmission; Ca2+ channel

Frontotemporal dementia (FTD) is a genetically and clinically heterogeneous syndrome that is characterized with overlapping clinical symptoms involving behavior, personality, language and/or motor functions.With the development of genetics, more than 20related genes have been found. This paper reviews the genotype-phenotype correlations of frototemporal dementia in order to provide clues for the diagnosis of this disease. Key words: Frontotemporal dementia; Genetics

Escherichia coli is a diverse bacterial species encompassing commensals as well as intestinal and extraintestinal pathogens. The ability to adapt to so many different niches in the host organism is determined by the extreme genomic diversity of E. coli, which leads to diverse biological properties, such as distinct pathogenic features. This paper provides recent updates about the population structure of E. coli lineages, with a focus on their relationships to the human health. Key words: Escherichia coli; Population genetics; Diversity; Human health

Gene amplification is one of the major ways to activate oncogenes in tumor cells and the amplified genes can provide growth advantages for survival or resistance to drugs in tumor cells. Double minutes (DMs) are the main cytogenetic hallmarks of genomic amplification. Recent researches show that DMs exist in many kinds of tumor cells and the involved amplified genes are associated with the development of tumors. Therefore, understanding the formation mechanism of gene amplification has important significance for tumor therapy. Herein, we summarize the formation models of DMs to provide new directions for tumor therapy. Key words: Double minutes; Gene amplification; Tumor

Engineered purification tags can very efficiently facilitate the purification of recombinant proteins, resulting in high yields and purities in a few standard steps. Over the years, many different purification tags have been developed, including short peptides, epitopes, folded protein domains, non-chromatographic tags and recently developed compound multifunctional tags with optimized capabilities. Although classic proteases are still used as a primary method to remove the tags from the target proteins, new self-cleaving methods are gaining more attention as a highly convenient alternative. In this review, we discuss some of these emerging trends, and examine their potential impacts and novel challenges on recombinant protein research. Key words: Affinity tag; Recombinant protein; Compound multifunctional tags; His tag