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Papillorenal syndrome (PRS), an autosomal dominant inherited condition, is clinically featured by renal hypoplasia and optic nerve dysplasia. Based on current knowledge of genotype-phenotype correlations in PRS, mutations in the Paired box 2 (PAX2) gene have been recognized as a critical pathogenesis of typical renal and optic disease manifestations. However, little information is currently available...
Compared with numerous studies of somatic mutations using sporadic lung cancer, the research into germline mutations using familial lung cancer (FLC) is limited. In the present study, we used FLC samples obtained from the Chinese population in highly air-polluted regions to screen for novel germline mutations in lung cancer. Through a whole genome sequencing (WGS) analysis of the nine subjects (four...
Liver fibrosis, characterized with the excessive accumulation of extracellular matrix (ECM) proteins, represents the final common pathway of chronic liver inflammation. Ever-increasing evidence indicates microRNAs (miRNAs) dysregulation has important implications in the different stages of liver fibrosis. However, our knowledge of miRNA-gene regulation details pertaining to such disease remains unclear...
Juvenile hormone (JH) plays an essential role in regulating molting, metamorphosis, reproduction, and diapause (dormancy), in many insects and crustaceans. JH esterases (JHEs) can control JH titer by regulating JH degradation. Although the biochemistry and structure of JHEs have been well studied, regulation of their expression remains unclear. We identified three putative JHEs (JHE1, JHE2, JHE3)...
Pugionium cornutum (L.) Gaertn. is a xerophytic plant species widely distributed in sandy and desert habitats in northwest China. However, the molecular mechanism of drought tolerance in P. cornutum has received little attention. At present, there is limited available transcriptome information for P. cormutum in public databases. Illumina sequencing was used to identify drought-responsive genes and...
Diapause (also known as dormancy) is a state of arrested development induced by photoperiod or temperature that allows insects to survive adverse environmental conditions. By regulating diapause induction, the circadian clock is involved in short-day-induced winter diapause but whether this is also the case in long-day (LD)-induced summer diapause remains unknown. The cabbage beetle Colaphellus bowringi...
Gut microbiota (GM) plays an important role in drug metabolism and absorption. Ever-increasing antibiotic use could result in high accumulation of antibiotic resistance genes (ARGs) in GM, which will reduce the recovery rate of many infectious diseases. The foci of this study is to unravel ARG distribution in GM of 1267 subjects from four countries in three continents, by annotation with ARDB (Antibiotic...
Monocytes are an important cell type in chronic periodontitis (CP) by interacting with oral bacteria and mediating host immune response. The aim of this study was to reveal new functional genes and pathways for CP at monocyte transcriptomic level.We performed an RNA-sequencing (RNA-seq) study of peripheral blood monocytes (PBMs) in 5 non-smoking moderate to severe CP (case) individuals vs. 5 controls...
Numerous studies have been focused on the replacement of fish meal by other alternative protein sources. However, little is currently known about the molecular mechanism of utilization of diets with different protein sources in fish. Grass carp is a typical herbivorous fish. To elucidate the relationship between gene expression and utilization of animal and plant diets, transcriptome sequencing was...
This study evaluates the inhibitory effect of IPO against ischemia reperfusion (I/R) induced lung injury in rats.Anesthetized and mechanically ventilated adult Sprague–Dawley rats were randomly assigned to one of the following groups (n=12 each): the sham operated control group, the ischemia–reperfusion (IR) group (30min of left-lung ischemia and 24h of reperfusion), the IPO group (three successive...
Charcot–Marie–Tooth type 2B (CMT2B) disease is a hereditary motor and sensory neuropathy subtype characterized by prominent loss of sensation, distal muscle weakness and wasting skin ulcers. Recurrent ulcers often require amputation of lower limbs. To date, only four mutations of the RAB7 gene, which encodes the small GTPase, have been associated with CMT2B. A Chinese family with CMT2B was identified...
Sasakia funebris, a member of the lepidopteran family, Nymphalidae (superfamily Papilionoidea) is a rare species and is found only in some areas of South China. In this study, the 15,233bp long complete mitochondrial genome of S. funebris was determined, and harbors the gene arrangement identical to all other sequenced lepidopteran insects. The nucleotide composition of the genome is highly A+T biased,...
NAC transcription factors are plant-specific and play an important role in responses to biotic and abiotic stresses. Populus euphratica is a salt-tolerant tree species growing in semi-arid saline areas. A stress responsive gene was successfully isolated from this species and named PeNAC1. The isolated cDNA encoded a protein containing a conserved NAC domain that belonged to the ATAF subgroup of the...
Nucleobindin 2 (NUCB2) is a precursor of nesfatin-1, a hypothalamic anorectic neuropeptide. The association between variants of the NUCB2 gene and adiposity was examined. 142 severely obese Chinese children in Singapore, and 384 normal weight Chinese children from a longitudinal cohort from Da Qing, China, were studied. NUCB2 was screened using PCR and direct sequencing in 29 severely obese children...
The association between methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism and lung cancer risk has been studied in various populations with conflicting results. The aim of this study was to assess the association strength by a meta-analysis of published studies.We searched PubMed and Chinese Biomedical (CBM) databases for relevant literatures published by July 18, 2012. Pooled odds...
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that is caused by mutations in the subunits of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. BCKD is a mitochondrial complex encoded by four nuclear genes (BCKDHA, BCKDHB, DBT, and DLD) and is involved in the metabolism of branched-chain amino acids (BCAAs). In this study, we investigated the DNA sequences...
The complete mitochondrial genome sequence of Liriomyza sativae Blanchard (15,551bp) was determined and analyzed in this study. The circular genome contained 37 genes including 13 protein-coding genes, 22 tRNA genes, 2 rRNA genes and an A+T-rich region. The initiation codons of COI and ND1 were ‘ATCA’ and ‘GTG’, respectively. ND2 gene used the truncated termination codon ‘T’. All the tRNA genes had...
The aim of this paper is to demonstrate possible evolutionary constraints that shape codon-pair context. The distributions of numbers of modes (DNM) of codon-pairs in protein coding sequences (CDSs) and the frequency of base triplet pairs in intergenic sequences (IGSs) are analyzed in 110 fully sequenced genomes. We propose that these distributions are in accordance with a gamma distribution. By studying...
Past efforts to improve plant tolerance to osmotic stress have had limited success owing to the genetic complexity of stress responses. The first step towards cataloging and categorizing genetically complex abotic stress responses is the rapid discovery of genes by the large-scale partial sequencing of randomly selected cDNA clones or expressed sequence tags (ESTs). Suaeda salsa, which can survive...
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