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The roles of plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms in atherosclerotic diseases were intensively analyzed, but the results of these studies were inconsistent. Therefore, we performed this study to better assess the relationship between PAI-1 genetic variations and atherosclerosis.Eligible studies were searched in PubMed, Medline, Embase and Web of Science. Odds ratios (ORs) with...
miRNAs can play vital role in migration, invasion and proliferation in Squamous cell carcinoma of head and neck (SCCHN). In our study, we attempted to validate the expression and function of miR-1275 in SCCHN, and we also identified the mechanism by which miR-1275 affects migration, invasion and proliferation of SCCHN.Real-time polymerase chain reaction (RT-PCR) was employed to evaluate the expression...
Genomic rearrangements, such as intragenic deletions and duplications, are the most prevalent types of mutation in the DMD gene, and DMD mutations underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Using multiplex ligation dependent probe amplification (MLPA) and DMD gene-targeted sequencing, we performed a molecular characterization of two cases of complex noncontiguous...
The mitochondrial genome (mt genome) provides important information for understanding molecular evolution and phylogeny. The further understand the molecular evolution and phylogeny of Helice tientsinensis, the complete mt genome was determined. It is 16,212bp long and includes 13 protein-coding genes (PCGs), 22 tRNA genes, two rRNA genes and a control region. The genome composition of H. tientsinensis...
BRCA1-interacting protein 1 (BRIP1), a DNA-dependent ATPase and a DNA helicase, is critical for BRCA-associated DNA damage repair functions and may be associated with the tumourigenesis and aggressiveness of various cancers. Here, we constructed a BRIP1 recombinant plasmid, overexpressed it in a cervical cancer cell line (HeLa) and found that ectopic expression of BRIP1 could remarkably enhance the...
The nuclear factor-kappa B (NF-κB) pathway proteins are key players in controlling both innate and adaptive immunity. However, the information on NF-κB pathway genes is very limited in mastitis resistance and milk production of Chinese Holstein cows. In this study, we examine the association of the NF-κB pathway gene variants with milk quality traits and somatic cell score (SCS) in Chinese Holstein...
In order to discover the variation of microRNAs and genes associated with NF-κB signaling pathway between the healthy and the mastitis Chinese Holstein cows, Illumina Deep Sequencing and qRT-PCR are applied to detect 25 kinds of miRNAs (miR-16, miR-125b, miR-15, miR-29a, miR-23b, miR-146, miR-301a, miR-181b, let-7, miR-30b, miR-21, miR-223, miR-27b, miR-10a, miR-143, etc.) expression levels in blood...
The insulin-like growth factor binding protein acid labile subunit (IGFALS) gene encodes a serum protein that binds to IGFs and regulates growth, development, and other physiological processes. We have found that sequencing of the IGFALS gene in Chinese Qinchuan beef cattle (n=300) revealed four SNP loci in exon two of the gene (g1219: T>C, g1893: T>C, g2612: G>A, and g2696: A>G). The...
Opitz G/BBB syndrome (OS) is a genetically heterogeneous disease. We report on an OS patient with a novel inherited mutation in MID1. Metaphase analysis showed a normal male karyotype. Array CGH revealed a maternally inherited duplication at Xp22.31 (6,467,203–7,992,261, hg18), the size was estimated to 1.5Mb. Sequence analysis of the MID1 coding region revealed a novel missense mutation in exon 8...
The cysteine and glycine-rich protein 3 (CSRP3) plays an important role in the myofiber differentiation. Here, we identified five SNVs in all exon and intron regions of the CSRP3 gene using DNA sequencing, PCR-RFLP and forced-PCR-RFLP methods in 554 cattle. Four of the five SNVs were significantly associated with growth performance and carcass traits of the cattle. In addition, we evaluated haplotype...
A protein kinase containing Z-DNA binding domains (PKZ), which resembles protein kinase R (PKR) in domain organization, was recently discovered to be a member of the eIF2α kinase family in fish. PKR has roles in antiviral immunity through inhibiting protein synthesis and activating NF-κB; therefore, it is thought that PKZ may have a similar role in fish antiviral immunity. In the present study, the...
The pig, particularly the miniature pig (minipig), is becoming an important animal model due to its physiological and anatomical similarities to humans. Bama minipigs (Sus scrofa domestica), a Chinese natural minipig breed, are a promising animal model. The pig is a useful model for drug metabolism and pharmacological studies due to the similar properties of cytochrome P450 (CYP)3A between pigs and...
The cysteine and glycine-rich protein 1 and 2 genes (CSRP1 and CSRP2) are an effective growth factor in promoting skeletal muscle growth in vitro and vivo. However, in cattle, the information on the CSRP1 and CSRP2 genes is very limited. The aim of this study was to examine the association of the CSRP1 and CSRP2 variants with growth and carcass traits in cattle breeds. Three single nucleotide variants...
X-linked recessive hypohidrotic ectodermal dysplasia (XLHED) is characterized by the defective morphogenesis of teeth, hair, and eccrine sweat glands. It is associated with mutations in the EDA gene. Up to now, more than 100 mutations in the EDA gene have been reported to cause XLHED. The product of EDA gene is a trimeric type II transmembrane protein that belongs to the tumor necrosis factor (TNF)...
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