Gene

Publisher: Elsevier

Journal description

Current impact factor: 2.08

Impact Factor Rankings

2015 Impact Factor Available summer 2015
2013 / 2014 Impact Factor 2.082
2012 Impact Factor 2.196
2011 Impact Factor 2.341
2010 Impact Factor 2.266
2009 Impact Factor 2.416
2008 Impact Factor 2.578
2007 Impact Factor 2.871
2006 Impact Factor 2.721
2005 Impact Factor 2.694
2004 Impact Factor 2.705
2003 Impact Factor 2.754
2002 Impact Factor 2.778
2001 Impact Factor 3.041
2000 Impact Factor 2.461
1999 Impact Factor 2.258
1998 Impact Factor 2.007
1997 Impact Factor 1.838
1996 Impact Factor 1.931
1995 Impact Factor 2.16
1994 Impact Factor 2.305
1993 Impact Factor 2.407
1992 Impact Factor 2.569

Impact factor over time

Impact factor
Year

Additional details

5-year impact 2.37
Cited half-life 0.00
Immediacy index 0.40
Eigenfactor 0.02
Article influence 0.73
ISSN 1879-0038

Publisher details

Elsevier

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    • Publisher last contacted on 18/10/2013
  • Classification
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Publications in this journal

  • [Show abstract] [Hide abstract]
    ABSTRACT: With the emergence of large-scale sequencing platforms since 2005, there has been a great revolution regarding methods for decoding DNA sequences, which have also affected quantitative and qualitative gene expression analyses through the RNA-Sequencing technique. However, issues related to the amount of data required for the analyses have been considered because they affect the reliability of the experiments. Thus, RNA depletion during sample preparation may influence the results. Moreover, because data produced by these platforms show variations in quality, quality filters are often used to remove sequences likely to contain errors to increase the accuracy of the results. However, when reads of quality filters are removed, the expression profile in RNA-Seq experiments may be influenced.
    Gene 06/2015; DOI:10.1016/j.gene.2015.03.033
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    ABSTRACT: The platypus and echidna are the only extant species belonging to the clade of monotremata, the most basal mammalian lineage. The platypus is particularly well known for its mix of mammalian and reptilian characteristics and work in recent years has revealed this also extends to the genetic level. Amongst the monotreme specific features is the unique multiple sex chromosome system (5X4Y in the echidna and 5X5Y in the platypus), which forms a chain in meiosis. This raises questions about sex chromosome organisation at meiosis and if this has led to changes in genes coding for synaptonemal complex proteins which are involved in homologous synapsis. Here we investigate the key structural components of the synaptonemal complex in platypus and echidna, synaptonemal complex proteins 1, 2 and 3 (SYCP1, SYCP2 and SYCP3). SYCP1 and SYCP2 orthologues are present, conserved and expressed in platypus testis. SYCP3 in contrast is highly diverged, but key residues required for self-association are conserved, while key residues that are required for tetramer stabilisation and DNA binding are missing in the monotremes. We also discovered a second SYCP3-like gene (SYCP3-like) in the same region. Comparison with the recently published Y-borne SYCP3 amino acid sequences revealed that SYCP3Y is more similar to SYCP3 in other mammals than the monotreme autosomal SYCP3. It is currently unclear if the changes in the SYCP3 gene repertoire are related to meiotic organisation of the extraordinary monotreme sex chromosome system. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.04.089
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    ABSTRACT: Germ-line mutation in CDH1 gene is associated with high risk for Hereditary Diffuse Gastric Cancer (HDGC) and Infiltrative Lobular Carcinoma (ILC). Although somatic CDH1 mutations were also detected in ILC with a frequency ranging from 10-56%, CDH1 alterations in more frequent infiltrative ductal carcinoma (IDC) appear to be rare, and no association with germ-line CDH1 mutation and IDC has been established. Here we report the case of a woman diagnosed with IDC at 39years of age, presenting extensive familial history of cancer at multiple sites with early-age onset and with no case of HDGC. Deep sequencing have revealed CDH1 missense mutation c.1849G>A (p.Ala617Thr) in heterozygous and four BRCA2 single nucleotide polymorphism in homozygosis. In this family, the mutation c.1849G>A in the CDH1 gene is not related to HDGC nor ILC. Therefore, here we highlight that multigene analysis is important to detect germ-line mutations and genetic variants in patients with cancers at multiple sites in the family, even if inconclusive genetic counseling can be offered, since hereafter, medical awareness will be held. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.035
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    ABSTRACT: Diseases of the immune and the skeletal systems should be studied together for the deep interaction between them. Many studies consider osteoporosis (OP) as a risk factor for the prediction of disease progression in rheumatoid arthritis (RA). The aim of this research is to study the effect of four single nucleotide polymorphisms (SNPs) on RA patients with and without OP. The examined SNPs (MTHFR (C677T, and A1298C), TGFβ1 (T869C), and TNFB (A252G)) were tested by genotyping 17 RA patients with OP and 72 RA patients without OP. Associations were tested using four models (multiplicative, dominant, recessive, and co-dominant). The studied SNPs were not significantly associated with the risk of OP in RA. MTHFR, TGFβ1, and TNFB polymorphisms don't appear to be clinically useful genetic markers for predicting RA severity in Egyptian women population. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.037
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    ABSTRACT: SPARC/Osteonectin is a multifunctional matricellular glycoprotein, which is expressed in embryonic and adult tissues that undergo active proliferation and dynamic morphogenesis. Recent studies indicate that Sparc expression appears early in development, although its function and regulation during development are largely unknown. In this report, we describe the isolation, characterization, post-embryonic developmental expression and environmental thermal regulation of sparc in turbot. The full-length turbot sparc cDNA contains 930bp and encodes a protein of 310 amino acids, which shares 77, 75 and 80% identity with human, frog and zebrafish, respectively. Results of whole-mount in situ hybridization reveal a dynamic expression profile during post-embryonic turbot development. Sparc is expressed differentially in the cranioencephalic region; mainly in jaws, branchial arches, fin folds and rays of caudal, dorsal and anal fins. Furthermore, ontogenetic studies demonstrated that Sparc gene expression is dynamically regulated during post-embryonic turbot development, with high expression during stage-specific post-embryonic remodeling. Additionally, the effect of thermal environmental conditions on turbot development and on ontogenetic sparc expression was evaluated. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.036
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    ABSTRACT: The human interferon α2 (IFNα2) was the first highly active IFN subtype to be cloned in the early eighties. It was also the first IFN and the first cytokine to be produced and commercialized by the pharmaceutical industry. Ipso facto it became the favourite IFNα subtype for academic researchers. For this fortunate reason IFNα2 has been at the origin of most discoveries related to the mechanism of action of type I interferons. Copyright © 2015 Elsevier Inc. All rights reserved.
    Gene 05/2015; DOI:10.1016/j.gene.2015.04.087
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    ABSTRACT: Integrins are involved in a vast number of cell behaviors due to their roles in adhesion and signaling. The regulation of integrin expression is of particular interest as a mechanism to drive developmental events and for the role of altered integrin expression profiles in cancer. Dynamic regulation of the expression of integrin receptors is required for the migration of the distal tip cell (DTC) during gonadogenesis in C. elegans. α integrin ina-1 is required for DTC motility, yet is up-regulated by an unknown mechanism. Analysis of the promoter for α integrin ina-1 identified two E-box sequences that are required for ina-1 expression in the DTC. Knockdown of transcription factor hlh-2, an established E-box binding partner and ortholog of E/Daughterless, prevented expression of a transcriptional fusion of the ina-1 promoter to RFP and blocked DTC migration. Similarly, knockdown of hlh-2 also prevented expression of a translational fusion of the genomic ina-1 gene to GFP while blocking DTC migration. Knockdown of HLH-2 binding partner MIG-24 also reduced ina-1 expression and DTC migration. Overall, these results show the transcription factor hlh-2 is required for up-regulation of ina-1 at the onset of DTC migration. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.030
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    ABSTRACT: Wilson disease is an autosomal recessive disorder of abnormal copper accumulation in the liver, brain, kidney and cornea, resulting in hepatic and neurological abnormalities, which results from impaired ATP7B protein function due to mutations in candidate ATP7B gene, till date more than 500 disease causing mutations were found. In India most disease causing mutations were identified in ATP-BD. DNA samples of the 101 WD cases and 100 control population were analyzed for mutations. 11 mutations were identified in 57 chromosomes. Three novel mutations, c.3310T>A (p.Cys1104Ser), c.3337C>A (p.Leu1113Met) on exon 15 and c.3877G>A (p.Glu1293Lys) on exon 18 were identified for the first time in the ATP7B gene. Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients. Four previously reported mutations c.3008C>T, c.3029A>G on exon 13, c.3182G>A on exon 14 and c.3809A>G on exon 18 from South India were also found in this study. Our research has enriched the spectrum of mutations of the ATP7B gene in the south Indian population. The detection of new mutations in the ATP7B gene can aid in genetic counseling and clinical or/prenatal diagnosis. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.031
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    ABSTRACT: The present study was undertaken to investigate the association between Hepatitis B Virus (HBV) infection and polymorphisms of tumor necrosis factor alpha TNF-α -308G>A, TNF-α -238G>A and TNF RII VNTR (p75) gene promotor in a Tunisian population. Blood samples were collected from 100 Tunisian patients with HBV infection, 45 with Chronic Hepatitis (CH), 36 with Liver Cirrhosis (LC), 15 with Hepatocellular Carcinoma (HCC) and 200 healthy individuals of similar ethnicity. Genomic DNA was extracted from peripheral blood leukocytes. Genotyping of the analysed polymorphisms was performed using Amplified Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR), Restriction Fragment Length Polymorphism (RFLP) and Variable Number Tandem Repeat PCR (PCR-VNTR). The variant homozygotes -308 GG was associated with 50% decreased risk of HBV chronic infection (GG vs AA+GA; p=0.010; OR=0.50; 95 % CI =0.29-0.85). However, the carriers of Minor allele -308 A have higher risk (1.5 times) to develop a chronic infection than other patients (p=0.027; OR=1.46; 95 % CI =1.04-2.06). The minor allele of -238 polymorphism was positively associated with virus resistance and the development of chronic infection (p=0.043; OR=1.42; 95 % CI =1.01 1.99). The distribution of -308, -238 and TNF RII VNTR (p75) among the three groups differed significantly. For HCC groups, there were a statistically significant difference in allele distribution in -308, -238 respectively in which A allele remains a risk factor for HBV evolution to HCC (p=0.008 and p=0.026). Haplotype analysis revealed that TNF-α (-308A;-238A) was significantly associated to HBV chronic infection and moreover to disease aggravation to HCC stage. Our findings imply that variations in the genes governing the levels of constitutive and inducible TNF-α and TNF RII might be an important risk factor, which could explain the variable outcomes of HBV infection. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.029
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    ABSTRACT: We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis with G-banding with Trypsin-Giemsa revealed 46,XX,der(9)t(4;9)(q28;p24) resulting from the mother's t(4,9) (q28;p24) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 4q are rare chromosomal alterations. To our knowledge, this is the first report of choanal atresia in a patient with a partial trisomy of 4q28-qter and partial monosomy 9p24-9ter combination, which was detected by integrated cytogenetic and genomic analysis. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.022
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    ABSTRACT: Desaturation of fatty acids is an important adaptation mechanism to maintain membrane fluidity under cold stress. To comprehend the mechanism of adaptation to low temperatures in fish, we investigated Stearoyl-CoA desaturase 1 (SCD1) endocrine expression in the process of cold acclimation from 15 °C to 7 °C in Larimichthys crocea. The cDNA and genomic sequences of scd1 were cloned and characterized and named as Lcscd1. The cDNA encoded an iron-containing protein of 337 amino acids with functional motifs. The full-length genome sequence of Lcscd1 was composed of 2556 nucleotides, including five exons and four introns. Tissue expression profiles by qPCR and western blot analysis revealed that Lcscd1 was highly expressed in liver, followed by brain. The expression of Lcscd1 mRNA in liver were firstly down-regulated from 15°C to 11 °C, and then up-regulated until the first day of 7 °C, followed by a decline until the last day. In brain, the expression showed no significant change from 15 °C to 9 °C, but then significantly increased until the last day of 7 °C. SCD1 protein expression in liver decreased from 15 °C to the first day of 7 °C, and then gradually recovered to the starting level. In brain, SCD1 protein expression maintained rising trends in the whole process. Immunoelectron microscopic analysis showed that SCD1 was localized in fat granules, mitochondria and granular endoplasmic reticulum of hepatic cells, but only in mitochondria of encephalic cells. The results above suggested that SCD1 expression was responsive to both cold and starvation stresses in liver, but only to cold stress in brain. In conclusion, these findings suggested that SCD1 may be involved in fish adaptation to cold stress. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.027
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    ABSTRACT: To date, the functions of the NLRC5 in chickens remain undefined. In the current study, chicken NLRC5 was cloned and an A1017G mutation was detected in its promoter region. The relative expression levels of the NLRC5 and key NF-кB pathway genes, IKKα, IKKβ, NF-κB, IL-6, IL-1β and IFN-γ,in the spleens of wild and mutant type birds, AA and GG, were determined using FQ-PCR at 7days post infection (DPI) with S. Enteriditis. Additionally, the bacterial burden in the caecum and various immune response parameters were measured to evaluate immune responses. All of the examined immune response parameters were significantly different between the AA chickens and the GG chickens. Specifically, the mRNA expression levels of IKKα, NF-κB, IL-6, IL-1β and IFN-γ were higher in AA chickens than those in GG chickens, while the mRNA expression level of NLRC5 were lower in AA chickens than those in GG chickens (P<0.05). Moreover, the mRNA expression levels of TLR4 and MyD88 were not affected in either group. Collectively, considering former NLRC5 functional study in vitro, the wild genotype birds presented with better resistance to S. Enteriditis through the actions of the NLRC5 and subsequent inhibition of the NF-κB pathway in chickens. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.023
  • Gene 05/2015; DOI:10.1016/j.gene.2015.05.025
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    ABSTRACT: In this study, we aimed to assess the neuroprotective effect of sevoflurane preconditioning in a cerebral focal ischemia-reperfusion rat model. Sixty Sprague Dawley rats were divided into six groups: sham operated group, cerebral focal ischemia-reperfusion (CIR), CIR+sevoflurane preconditioning (SP) (2%) group, CIR+sevoflurane preconditioning (2.5%) group, CIR+sevoflurane preconditioning (3%) group, CIR+sevoflurane preconditioning (3.5%) group. All subjects were euthanized 2days post-surgery and their hippocampus tissues were removed. Tissue malondialdehyde (MDA), superoxide dismutase (SOD), glutathione (GSH) and glutathione peroxidase (GSH-Px) levels were measured and hippocampus tissue samples were examined histopathologically. Results showed that significant difference in antioxidant, immunity indexs, apoptosis-related proteins expression were detected in hippocampus tissue between sham-operated control and CIR groups. Sevoflurane preconditioning significantly dose-dependently reduced MDA, IL-1β, IL-6, IL-10 and TNF-α levels, enhanced antioxidant enzymes activities in hippocampus tissue of CIR+SP groups compared to CIR group. In addition, sevoflurane preconditioning significantly dose-dependently upregulated PI3K, p-Akt, Bcl-2 levels, downregulated caspase-3 and Bax levels in hippocampus tissue of CIR+SP groups compared to CIR group. It can be concluded that sevoflurane preconditioning demonstrates a strong and ameliorative effect on cerebral I/R damage in rats. The neuroprotective mechanisms of sevoflurane preconditioning are associated with its properties of anti-apoptosis and anti-oxidation as well as regulation of PI3K and p-Akt signals activation. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.026
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    ABSTRACT: Telomerase reverse transcriptase (TERT) is the catalytic subunit of telomerase complex that regulates telomerase activity to maintain telomere length for all animals with linear chromosomes. As the Mus musculus (MM) laboratory mouse has very long telomeres compared to humans, a potential alternative animal model for telomere research is the Peromyscus leucopus (PL) mouse that has telomere lengths close to the human range and has the wild counterparts for comparison. We report the full TERT coding sequence (pTERT) from PL mice to use in the telomere research. Comparative analysis with eight other mammalian TERTs revealed a pTERT protein considerably homologous to other TERTs and preserved all TERT specific-sequence signatures, yet with some distinctive features. pTERT displayed the highest nucleotide and amino acid sequence homology with hamster TERT. Unlike human but similar to MM mice, pTERT expression was detected in various adult somatic tissues of PL mice, with the highest expression in testes. Four different captive stocks of PL mice and wild-captured PL mice each displayed group-specific average telomere lengths, with the longest and shortest telomeres in inbred and outbred stock mice, respectively. pTERT showed considerable numbers of synonymous and nonsynonymous mutations. A pTERT proximal promoter region cloned was homologous among PL and MM mice and rat, but with species-specific features. From PL mice, we further cloned and characterized ribosomal protein, large, P0 (pRPLP0) to use as an internal control for various assays. Peromyscus mice have been extensively used for various studies, including human diseases, for which pTERT and pRPLP0 would be useful tools. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.013
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    ABSTRACT: A functional variant in the promoter region of the gene encoding tumor necrosis factor (TNF; rs1800629, -308G>A) showed to confer susceptibility to T1D. However, TNF rs1800629 was found, in several populations, to be in linkage disequilibrium with HLA susceptibility haplotypes to T1D. We evaluated the association of TNF rs1800629 with T1D in a cohort of Brazilian subjects, and assessed the impact of HLA susceptibility haplotypes in this association. 659 subjects with T1D and 539 control subjects were genotyped for TNF-308G>A variant. HLA-DRB1 and HLA-DQB1 genes were genotyped in a subset of 313 subjects with T1D and 139 control subjects. Associations with T1D were observed for the A-allele of rs1800629 (OR 1.69, 95% CI 1.33-2.15, p<0.0001, in a codominant model) and for 3 HLA haplotypes: DRB1*03:01-DQB1*02:01 (OR 5.37, 95% CI 3.23-8.59, p<0.0001), DRB1*04:01-DQB1*03:02 (OR 2.95, 95% CI 1.21-7.21, p=0.01) and DRB1*04:02-DQB1*03:02 (OR 2.14, 95% CI 1.02-4.50, p=0.04). Linkage disequilibrium was observed between TNF rs1800629 and HLA-DRB1 and HLA-DQB1 alleles. In a stepwise regression analysis HLA haplotypes, but not TNF rs1800629, remained independently associated with T1D. Our results do not support an independent effect of allelic variations of TNF in the genetic susceptibility to T1D. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.017
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    ABSTRACT: The 5'AMP-activated protein kinase (AMPK) is a heterotrimeric enzyme that controls cellular energy homeostasis in response to environmental or nutritional stress. The PRKAG3 gene (PRKAG3) encodes the γ3 subunit of the AMPK. Variation in this gene has been found to be associated with meat quality traits in pigs. In this study, we used polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) to investigate variation in exon 3 and exons 4-6 of ovine PRKAG3. In 160 New Zealand Suffolk sheep, two variant sequences (named a and b) were identified in the exon 3 region of the gene and three variant sequences (named A, B and C) were identified in the exon 4-6 region of the gene, respectively. A total of three nucleotide substitutions were revealed and these were located in intron 4, exon 4 and intron 5, respectively. The nucleotide substitution identified in the exon 4 (g.2656 C>T) could nominally lead to an amino acid substitution of tryptophan to arginine at position 230 (R230W) in ovine PRKAG3. In comparison with the PRKAG3 amino acid sequences in other species, this R230W substitution appeared to occur only in sheep. This is the first report of genetic variation in ovine PRKAG3, and the variation found in this study could be functionally important for AMPK activity, which in turn may affect meat quality traits in sheep. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.021
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    ABSTRACT: The G-308A single nucleotide polymorphism (SNP) in the promoter of tumor necrosis factor-alpha (TNF-α) gene has previously been reported to be associated with cardiovascular risk. However the potential association of this polymorphism with metabolic syndrome (MetS) is unclear. The aim of the current study was to explore the association of this TNF-α gene polymorphism with MetS in an Iranian population. Two hundred and twenty two subjects were recruited and anthropometric and biochemical parameters were determined. Genotyping was performed using the amplification refractory mutation system polymerase chain reaction. The association of the genetic-polymorphism with MetS was evaluated by univariate and multivariate analyses. MetS subjects had a significantly (P<0.05) higher level of fasted serum triglycerides, body-mass-index, waist-circumference, blood pressure and fasting-blood-glucose, and lower level of high-density lipoprotein cholesterol. The possession of AA or GA genotype of the TNF-α gene was not associated with MetS in our population. However the AA genotype of TNF-α was related to an increased level of triglyceride in MetS patients, compared to the control group. TNF-α G-308A polymorphism is unlikely to play an important role in the development of MetS in our population. Copyright © 2015. Published by Elsevier B.V.
    Gene 05/2015; DOI:10.1016/j.gene.2015.05.019