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The aim of this study was to ascertain whether single nucleotide polymorphisms of cytidine deaminase (CDA), a key enzyme in the metabolism pathway of gemcitabine, could predict clinical outcomes of cancer patients with gemcitabine-based chemotherapy.We searched MEDLINE and EMBASE up to January 2013 to identify eligible studies. A rigorous quality assessment of eligible studies was conducted according...
The majority of the plant materials used in herbal medicine is procured from the markets in the form of dried or powdered plant parts. It is essential to use authentic plant materials to derive the benefits of herbal medicine. However, establishing the identity of these plant materials by conventional taxonomy is extremely difficult. Here we report a case study in which the species identification...
To select the molecular markers susceptible to mastitis and reduce the loss induced by mastitis, the PCR-SSCP method was adopted to investigate the correlation between SNPs of the HSP70-2 gene and mastitis in 103 Chinese Holstein. 25 new polymorphisms were detected in this study: 9 SNPs (g.−115 G→A, g.−98 T→C, g.117 C→A, g.156 A→C, g.1743 G→A, g.1746 C→T, g.1761 T→G, g.1770 C→G, g.1877 G→C) were found...
We performed genome-wide identifications and comparative genomic analyses of the predicted aspartic proteases (APs) from eight parasitic flatworms, focusing on their evolution, potentials as drug targets and expression patterns. The results revealed that: i) More members of family A01 were identified from the schistosomes than from the cestodes; some evidence implied gene loss events along the class...
The small ribosomal protein RPS27a is known to play a role in the activation of cellular checkpoints via p53 which links ribosome biogenesis to cell cycle progression. Here, we show that RPS27a gene is a direct transcriptional target of p53 and is overexpressed in response to DNA damage. Elevated RPS27a level was associated with increased expression of p53 and its target p21 Waf1 gene. The...
We performed molecular modeling analysis onto a novel mutation in the gene MVK, described by Santos et al., found to be causative of a severe form of Hyper-IgD/Mevalonate Kinase Deficiency. The mutation p.R277G, in our analysis, lowers the binding affinity for some enzyme's substrates. Interestingly, we found that p.R277G mutation inhibits binding of Isopentenyl Pyrophosphate (IPP) (binding free energy=0kcal/mol),...
The highly pathogenic avian influenza (HPAI) H5N1 virus, currently circulating in Asia, causes severe disease in domestic poultry as well as wild birds like crow. However, the molecular pathogenesis of HPAIV infection in crows and other wild birds is not well known. Thus, as a step to explore it, a comprehensive global gene expression analysis was performed on crow lungs, infected with HPAI H5N1 crow...
Vitamin D co-regulates the synthesis of sex hormones in part by interaction with its nuclear receptor. The aim of this study was to determine whether there is an association of vitamin D concentration vs the level of sex hormones in elderly Polish individuals with different genotypes of the vitamin D receptor (VDR) gene.Rs10735810, rs1544410, rs7975232, and rs731236 polymorphisms of VDR, the serum...
In this study, the ontogeny of body and liver weight and the pattern of related gene mRNA expression in the hypothalamus–pituitary growth axis (HPGA) of two different duck breeds (Anas platyrhynchos domestica) were compared during embryonic and post-hatch development. Duck hypothalamic growth hormone release hormone (GHRH), somatostatin (SS), pituitary growth hormone (GH), liver growth hormone receptor...
The Lindera glauca, an economically and ecologically important tree species, has emerged as a novel potential plant for the intensive studies of essential oil owing to its characteristic aroma and medicinal property in distinct tissues. However, the transcriptome information and molecular research on this species is still unknown to date. To reveal the formation and accumulation mechanism of essential...
Silent information regulator 6 (SIRT6) belongs to the family of class III nicotinamide adenine dinucleotide (NAD)-dependent deacetylase and plays an essential role in DNA repair and metabolism. This study was conducted to detect potential polymorphisms of the bovine SIRT6 gene and explore their relationships with body measurement and carcass quality in Qinchuan cattle. Four sequence variants (SVs)...
The present study deals with karyotpye–phenotype correlations in a six month old child with multiple congenital abnormalities. Cytogenetic analysis revealed mosaicism of a small metacentric supernumerary marker chromosome with a karyotype mos 47,XY+mar[34]/46,XY[31]. Cytogenetic microarray result showed three copies of chromosome 18p (15,400kb in size). Moreover, 255kbp intermittent deletion of chromosome...
Based on the requirements for an organism's viability, genes can be classified into essential genes and non-essential genes. Non-essential genes can be further classified into toxicity-modulating genes and no-phenotype genes based on the fitness phenotype of yeast cells when the gene is deleted under DNA-damaging conditions. In this study, graph theoretical approaches were used to characterize essential,...
The neonatal Fc receptor (FcRn) transports IgG from mother to young and is involved in antigen presentation. FcRn is structurally similar to MHC class I, but its intracellular trafficking pathway is much more analogous to that of MHC class II. Ia-associated invariant chain (Ii) molecules play an additional role in directing MHC class II trafficking within the endocytic compartments by physical association...
Classical galactosemia is an autosomal recessive inborn error of metabolism due to mutations of the GALT gene leading to toxic accumulation of galactose and derived metabolites. With the benefit of early diagnosis by neonatal screening and early therapy, the acute presentation of classical galactosemia can be prevented. However, despite early diagnosis and treatment, the long term outcome for these...
Inhibins play important roles in normal gonadal function, including regulation of proliferation, differentiation, and steroidogenesis of Leydig and Sertoli cells via paracrine and autocrine processes. In adult males, circulating inhibin levels are correlated with fertility by regulating the number of Sertoli cells, total sperm count, and testicular volume. Given this important role, inhibin-α subunit...
Heat shock transcription factors (Hsfs) play a role in plant responses to stress. Citrus is an economically important fruit whose genome has been fully sequenced. So far, no detailed characterization of the Hsf gene family is available for citrus. A genome-wide analysis was carried out in Citrus clementina to identify Hsf genes, named CcHsfs. Eighteen CcHsfs were identified and classified into three...
The study is designed to explore the anticancer mechanism of Bortezomib. The effects of Bortezomib on the proliferation of human gastric cancer cells HGC-27 and expression levels of the phospho-Jun N-terminal kinase (p-JNK) pathway-related proteins in vitro were investigated. 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay revealed that the Bortezomib significantly decreased...
The causative variant in a consanguineous family in which the three patients (two siblings and a cousin) presented with intellectual disability, Marfanoid habitus, craniofacial dysmorphisms, chronic diarrhea and progressive kyphoscoliosis, has been identified through whole exome sequencing (WES) analysis. WES study identified a homozygous DDC variant in the patients, c.1123C>T, resulting in p.Arg375Cys...
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