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

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


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    • Voluntary deposit by author of authors post-print allowed on authors' personal website, or institutions open scholarly website including Institutional Repository, without embargo, where there is not a policy or mandate
    • Deposit due to Funding Body, Institutional and Governmental policy or mandate only allowed where separate agreement between repository and the publisher exists.
    • Permitted deposit due to Funding Body, Institutional and Governmental policy or mandate, may be required to comply with embargo periods of 12 months to 48 months .
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    • Published source must be acknowledged
    • Must link to journal home page or articles' DOI
    • Publisher's version/PDF cannot be used
    • Articles in some journals can be made Open Access on payment of additional charge
    • NIH Authors articles will be submitted to PubMed Central after 12 months
    • Publisher last contacted on 18/10/2013
  • Classification
    ​ green

Publications in this journal

  • Gene 06/2015;
  • Alexander Deneka, Vladislav Korobeynikov, Erica A Golemis
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    ABSTRACT: The CAS (Crk-associated substrate) adaptor protein family consists of four members: CASS1/BCAR1/p130Cas, CASS2/NEDD9/HEF1/Cas-L, CASS3/EFS/Sin and CASS4/HEPL. While CAS proteins lack enzymatic activity, they contain specific recognition and binding sites for assembly of larger signaling complexes that are essential for cell proliferation, survival, migration, and other processes. All family members are intermediates in integrin-dependent signaling pathways mediated at focal adhesions, and associate with FAK and SRC family kinases to activate downstream effectors regulating the actin cytoskeleton. Most studies of CAS proteins to date have been focused on the first two members, BCAR1 and NEDD9, with altered expression of these proteins now appreciated as influencing disease development and prognosis for cancer and other serious pathological conditions. For these family members, additional mechanisms of action have been defined in receptor tyrosine kinase (RTK) signaling, estrogen receptor signaling or cell cycle progression, involving discrete partner proteins such as SHC, NSP proteins, or AURKA. By contrast, EFS and CASS4 have been less studied, although structure-function analyses indicate they conserve many elements with the better-known family members. Intriguingly, a number of recent studies have implicated these proteins in immune system function, and the pathogenesis of developmental disorders, autoimmune disorders including Crohn's disease, Alzheimer's disease, cancer, and other diseases. In this review, we summarize the current understanding of EFS and CASS4 protein function in the context of the larger CAS family group. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.062
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    ABSTRACT: The cattle fever tick, Rhipicephalus (Boophilus) microplus is one of the most significant medical veterinary pests in the world, vectoring several serious livestock diseases negatively impacting agricultural economies of tropical and subtropical countries around the world. In our study, we assembled the complete R. microplus mitochondrial genome from Illumina and Pac Bio sequencing reads obtained from the ongoing R. microplus (Deutsch strain from Texas, USA) genome sequencing project. We compared the Deutsch strain mitogenome to the mitogenome from a Brazilian R. microplus and from an Australian cattle tick that has recently been taxonomically designated as Rhipicephalus australis after previously being considered R. microplus. The sequence divergence of the Texas and Australia ticks is much higher than the divergence between the Texas and Brazil ticks. This is consistent with the idea that the Australian ticks are distinct from the R. microplus of the Americas. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.060
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    ABSTRACT: MicroRNAs (miRNAs) have been shown to play important roles in plant development, growth and stress response. Sweet sorghum [Sorghum bicolor (L.) Moench] is an important source of bioenergy due to the high sugar content in its stems. However, it is not clear how the miRNA is involved in sugar accumulation in sorghum stems. In order to identify the miRNAs in the stems and the leaves of sweet sorghum, we extracted RNAs of the stems and leaves of sweet sorghum (Rio) and grain sorghum (BTx623) at the heading and dough stages for high-throughput sequencing. A total of 179279048 reads were obtained from Illumina-based sequencing. Further analysis identified nine known miRNAs and twelve novel miRNAs that showed significantly and specifically differentially expressed in the stems of sweet sorghum. The target genes of the differentially expressed novel miRNAs include the transcription factor, glucosyltransferase, protein kinase, cytochrome P450, transporters etc. GO enrichment analysis showed that the predicted targets of these differentially expressed miRNAs participated in diverse physiological and metabolic processes. We performed RT-qRCR analysis on these miRNAs across eight different libraries to validate the miRNAs. Finally, we screened stem-specifically expressed novel miRNA and a leaf-specifically expressed novel miRNA in sweet sorghum comparing with grain sorghum. Our results provide a basis for further investigation of the potential role of these individual miRNAs in sugar accumulation. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.056
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    ABSTRACT: The superfamily Curculionoidea is one of the most diverse groups of insects in the world, including many species which are crop pests. Within this group, the native raspberry weevil, Aegorhinus superciliosus (Guérin, 1830), is an important pest in blueberry and raspberry fields in southern South America. Using a 454 sequencing approach, we sequenced and annotated the mitogenome of A. superciliosus,it, providing the first such information for any species in the tribe Aterpini, subfamily Cyclominae. The assembled mitogenome is a circular DNA molecule 15,121bp in length containing all 37 genes normally found in metazoans. Mitogenome organization and transcriptional orientation in A. superciliosus showed the same pattern that characterizes the Suborder Polyphaga. Bayesian and Maximum Likelihood phylogenetic analyses supported the monophyly of the tribe Aterpini and the subfamily Cyclominae, recovering this clade in a sister group relationship with Entiminae and Hyperinae. The monophyly of these three subfamilies defines a critical transition to an ectophagous lifestyle in the larvae, from an ancestrally endophagous larval lifestyle in all other lineages. The sequenced mitogenome of A. superciliosus can provide basic data for future studies investigating population history, molecular systematics, stress ecophysiology and phylogeography. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.059
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    ABSTRACT: Results from animal models points towards the existence of a gene expression profile that is distinguishably different in viable embryos compared with non-viable embryos. Knowledge of human embryo transcripts is however limited, in particular with regard to how gene expression is related to clinical outcome. The purpose of the present study was therefore to determine the global gene expression profiles of human blastocysts. Next Generation Sequencing was used to identify genes that were differentially expressed in non-implanted embryos and embryos resulting in live birth. Three trophectoderm biopsies were obtained from morphologically high quality blastocysts resulting in live birth and three biopsies were obtained from non-implanting blastocysts of a comparable morphology. Total RNA was extracted from all samples followed by complete transcriptome sequencing. Using a set of filtering criteria, we obtained a list of 181 genes that were differentially expressed between trophectoderm biopsies from embryos resulting in either live birth or no implantation (negative hCG), respectively. We found that 37 of the 181 genes displayed significantly differential expression (p<0.05), e.g. EFNB1, CYTL1 and TEX26 and TESK1, MSL1 and EVI5 in trophectoderm biopsies associated with live birth and non-implanting, respectively. Out of the 181 genes, almost 80% (145 genes) were up-regulated in biopsies from un-implanted embryos, whereas only 20% (36 genes) showed an up-regulation in the samples from embryos resulting in live birth. Our findings suggest the presence of molecular differences visually undetectable between implanted and non-implanted embryos, and represent a proof of principle study. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.057
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    ABSTRACT: Rheumatoid arthritis (RA) is a chronic, inflammatory joint disease that mainly attacks synovial joints. However, the underlying systematic relationship among different genes and biological processes involved in the pathogenesis are still unclear. By analyzing and comparing the transcriptional profiles from RA, OA (osteoarthritis) patients as well as ND (normal donors) with bioinformatics methods, we tended to uncover the potential molecular networks and critical genes which play important roles in RA and OA developmemt. Initially, hierarchical clustering was performed to classify the overall transcriptional profiles. Differentially Expressed Genes (DEGs) between ND and RA, OA patients were identified. Furthermore, PPI networks were constructed and functional modules were extracted, functional annotation was also applied. Our functional analysis identifies 22 biological processes and 2 KEGG pathways enriched in the commonly-regulated gene set. However, we found that number of set of genes differentially expressed genes only between RA and ND reaches up to 244, indicating this gene set may specifically accounts for processing to disease of RA. Additionally, 142 biological processes and 19 KEGG pathways are over-represented by these 244 genes. Meanwhile, although another 21 genes differentially expressed in only OA and ND, none of biological process nor pathway is over-represented by them. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.058
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    ABSTRACT: Vascular anomalies included hemangiomas and vascular malformations(VMs). VMs are mediated by mutations in the endothelial cell-specific receptor tyrosine kinase Tie2 (TEK) ,which is essential for angiogenesis and vascular stabilization. We identified five types of Tie2 mutations in 80 patients with soft tissue or spinal VMs by PCR including the previously detected missense mutations 2690A>G (Y897C),2740C>T (L914F),2743C>T (R915C), and two nonsense mutation 2763G>A,2688C>T,we identified Tie2 mutation in primary spinal VMs for the first time.Tie2 mutations were found to be absent in 33 patients with hemangiomas and DNA samples of VMs. In addition, we showed that Tie2 mRNA expression in spinal VMs was similar to soft tissue VMs,but obviously lower than infant hemangiomas(P <0.01). This study provides new insights into spinal VMs,the association of Tie2 and vascular anomalies need to further discuss. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.048
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    ABSTRACT: Turnip mosaic virus (TuMV) is the most prevalent viral pathogen infecting most cruciferous plants. MicroRNAs (miRNA) that are around 22 nucleotides long non-protein-coding RNAs that play key regulatory roles in plants. Recent research findings show that miRNAs are involved in plant-virus interaction. However we know little about plant defense and viral offense system networks throughout microRNA regulation pathway. In this study, two small RNA libraries were constructed based on non-heading Chinese cabbage (Brassica campestris ssp. chinensis L. Makino, NHCC) leaves infected by TuMV and healthy leaves, and sequenced using the Illumina-Solexa high-throughput sequencing technology. A total of 86 conserved miRNAs belonging to 25 known miRNA families and 45 novel ones were identified. Among them, twelve conserved and ten new miRNAs were validated by real-time fluorescence quantitative PCR (qPCR). Differential expression analysis showed that 42 miRNAs were down-regulated and 27 miRNAs were up-regulated in response to TuMV stress. A total of 271 target genes were predicted using a bioinformatics approach, these genes are mainly involved in growth and resistance to various stresses. We further selected 13 miRNAs and their corresponding target genes to explore their expression pattern under TuMV and/or cold (4 °C) stresses, and the results indicated that some of the identified miRNAs could link TuMV response with cold response of NHCC. The characterization of these miRNAs could contribute to a better understanding of plant-virus interaction throughout microRNA regulation pathway. This can lead to find new approach to defend virus infection using miRNA in Chinese cabbage. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.047
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    ABSTRACT: The recent discovery of 5-hydroxymethylcytosine (5hmC), an epigenetic modifier and oxidation product of 5-methylcytosine (5mC), has broadened the scope and understanding of neural development and neurodegenerative diseases. By virtue of their functional groups, 5mC and 5hmC exert opposite effects on gene expression; the former is generally associated with gene silencing whereas the latter is mainly involved in up-regulation of gene expression affecting the cellular processes such as differentiation, development, and aging. Although DNA methylation plays an important role in normal neural development and neuroprotection, an altered pathway due to complex interaction with environmental and genetic factors may cause severe neurodegeneration. The levels of 5hmC in brain increase progressively from birth until death, while in patients with neurodegenerative disorders, the levels are found to be highly compromised. This article discusses the recent developments in the area of hydroxymethylation, with particular emphasis on the role of 5hmC in neurodegenerative diseases including Alzheimer's disease, Parkinson's diseases and Huntington's disease. We have also included recent findings on the role of 5hmC in brain tumors (gliomas). Despite compelling evidence on the involvement of 5hmC in neurodegeneration, it is yet to be established whether this epigenetic molecule is the cause or the effect of the onset and progression of neurodegenerative diseases. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.052
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    ABSTRACT: Globoid cell leukodystrophy (GLD) is an autosomal recessive, lysosomal storage disease caused by deficiency of the enzyme galactocerebrosidase (GALC). The absence of GALC activity leads to the accumulation of the toxic substance psychosine and the preferential loss of myelinating cells in the central and peripheral nervous systems. Profound demyelination, astrogliosis and axonopathy are the hallmarks of the pathogenesis of GLD, and cerebellar ataxia is one of the dominant manifestations in adolescents and adults affected with GLD. To date, studies regarding cerebellar degeneration in GLD are limited. In this study, the efficacy of cerebellum-targeted gene therapy on the cerebellar neuropathology in twitcher mice (a murine model of GLD) has been validated. We observed degeneration of Purkinje cells, Bergmann glia, and granule cells in addition to astrocytosis and demyelination in the cerebellum of the twitcher mice. Ultrastructural analysis revealed dark cell degeneration and disintegration of the cellular composition of Purkinje cells in untreated twitcher mice. In addition, the expressions of neurotrophic factors CNTF, GDNF and IGF-I were up-regulated and the expression of BDNF was down-regulated. Intracerebellar-mediated gene therapy efficiently corrected enzymatic deficiency by direct transduction to Purkinje cells and cross-correction in other cell types in the cerebellum, leading to the amelioration of both neuroinflammation and demyelination. The population, dendritic territory, and axonal processes of Purkinje cells remained normal in the cerebellum of treated twitcher mice, where radial fibers of Bergmann glia spanned the molecular layer and collateral branches ensheathed the dendritic processes of Purkinje cells. Moreover, the aberrant expressions of neurotrophic factors were mitigated in the cerebellum of treated twitcher mice, indicating the preservation of cellular function in addition to maintaining the neuronal architecture. The life span of the treated twitcher mice was significantly prolonged and their neurobehavioral performance was improved. Taken together, our findings underscore the complexity of cerebellar neurodegeneration in GLD and highlight the potential effectiveness of gene therapy in mitigating neuropathological deficits in GLD and other neurodegenerative disorders in which Purkinje cells are involved. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.049
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    ABSTRACT: Low air pressure and low oxygen partial pressure at high altitude seriously affect the survival and development of human beings and animals. ECE1 is a recently discovered gene that is involved in anti-hypoxia, but the full-length cDNA sequence has not been obtained. For a better understanding of the structure and function of the ECE1 gene and to study its effect in Tibetan pig, the cDNA of the ECE1 gene from the muscle of Tibetan pig was cloned, sequenced and characterized. The ECE1 full-length cDNA sequence consists of 2262bp coding sequence (CDS) that encodes 753 amino acids with a molecular mass of 85,449 kD, 2bp 5'UTR and 1507bp 3'UTR. In addition, the phylogenetic tree analysis revealed that the Tibetan pig ECE1 has a closer genetic relationship and evolution distance with the land mammals ECE1. Furthermore, analysis by qPCR shown that the ECE1 transcript is constitutively expressed in the 10 tissues tested: liver, subcutaneous fat, kidney, muscle, stomach, heart, brain, spleen, pancreas, and lung. These results serve as a foundation for further insight into the Tibetan pig ECE1 gene. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.054
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    ABSTRACT: Insulin-like growth factor binding protein 7 (IGFBP7) binds IGFs with a low affinity, but in contrast, recognizes insulin with a high affinity. Many studies show that IGFBP7 involves several cellular processes of vertebrates and functions as a tumor suppressor gene in different tumors. However, the function of IGFBP7 in invertebrates is unclear. In this research, we studied the function of IGFBP7 in the proliferation of small abalone Haliotis diversicolor hemocytes by exposure to dsRNA or cap mRNA of saIGFBP7. We found that exposure to dsRNA or cap mRNA of saIGFBP7 could significantly affect the mRNA and protein expression of IGFBP7 in cultured small abalone hemocytes (p<0.05). There was a significant increase in hemocyte density and the number of adherent hemocytes after exposure to cap mRNA of saIGFBP7 (p<0.05). Similarly, exposure to dsRNA of saIGFBP7 could significantly decrease the hemocyte density and the number of adherent hemocytes (p<0.05). These findings suggest that IGFBP7 increases hemocytes growth. It is the first time to report the effect of IGFBP7 on the proliferation of marine invertebrate cells. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.051
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    ABSTRACT: 22q11.2 microduplication syndrome was recently described as a new disorder with variable clinical features that ranged from normal to mental retardation and with congenital defects. According to published reports, majority of patients with 22q11.2 duplications inherit these from unaffected parents rather than by de novo mutations, which is different from most microduplication/microdeletion syndromes. In this study, we report a patient that carried a paternally inherited atypical 1.33 Mb duplication at 22q11.23. The proband (or proposita) presented with hypotonia, feeding difficulties, intractable epilepsy, hearing disability, and pachygyria. A pachygyria phenotype had not been previously reported to be associated with a 22q11 microduplication syndrome. Cytogenetic and molecular genetic analyses based on standard G-banding, SNP array, and fluorescence in situ hybridization were performed for the proband and her parents. An atypical 1.33 Mb duplication at 22q11.23 was detected in both the proband and her father. Thus, our findings verify the pathogenicity and diverse phenotypes of 22q11.2 microduplication and expand its phenotypic spectrum. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.04.090
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    ABSTRACT: (E)-β-farnesene is a sesquiterpene semiochemical that is used extensively by both plants and animals for communication. This acyclic olefin is found in the essential oil of chamomile (Matricaria recutita) and was demonstrated that it could attract natural enemies to reduce cabbage aphids in the Chinese cabbage fields. However, little is known regarding the sequence and function of (E)-β-farnesene synthase in M. recutita. In this study, we reported a new full-length cDNA encoding (E)-β-farnesene synthase from M. recutita (Mr-βFS). The cDNA of Mr-βFS consisted of 2010bp including 1725bp of coding sequence encoding a protein of 574 amino acids with a molecular weight of 67kDa. The deduced amino acid sequence exhibits a considerably higher homology to βFS from Artemisia annua (about 92% identity) than to βFSs from other plants (about 20-40% identity). The recombinant enzyme, produced in Escherichia coli, catalyzed the formation of a single product, (E)-β-farnesene, from farnesyl diphosphate. Real-time quantitative PCR (qRT-PCR) analysis showed that Mr-βFS expression was highest in leaves and lowest in disk florets. The treatment of M. recutita with methyl jasmonate (MeJA) significantly enhanced the transcriptional level of βFS gene and the content of (E)-β-farnesene in M. recutita. The transcriptional level of βFS gene was approximately 11.5-fold higher than the control sample and the (E)-β-farnesene emission level ranged from approximately from 0.082 to 0.695μg/g after 24h induction. Our results laid a solid foundation for later improving crop aphid resistance by transgenic technology and provided an important basic data for the regulation of valuable products from M. recutita. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.037
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    ABSTRACT: Previously, a large proportion of the genetic components predisposing individuals to IgA nephropathy (IgAN) have been unidentified. Familial IgAN is enriched with genetic variations predisposing individuals to the disease. Whole exome sequencing is an effective way to explore disease-causing genes and gene variants. We performed exome sequencing on the probands from each of ten IgAN families, and on one of the unaffected member from 7 of the families. Sanger sequencing, bioinformatics and co-segration analysis were performed for all available family members to detect deleterious genetic variation. The relatedness of the families was tested by haplotype analyses. Six deleterious variants in 4 genes were observed to be associated with IgA nephropathy by co-segregating with the disease phenotypes in study families. MYCT1 p.Asp22Glufs*34 was associated with IgAN by co-segregating with its phenotypes in families 2, 7, 9; DEFA4 p.Ala8Pro, p.Ala8Val, c.172+1G>T co-segregated in families 1, 2, 3; ZNF543 p.Pro226Ala co-segregated in families 3, 5, 6 and CARD8 p.Val98Lysfs*26 co-segregated in families 7, 8. Among these genes, MYCT1, CARD8 and ZNF543 are novel. Our haplotype analyses showed that families in which the same variation(s) were co-segregating with IgAN were unrelated, except for DEFA4. Of the families carrying DEFA4, families 2 and 3 were possibly related, but not family 1, indicating that common genes/variations in these families were not due to the same founder. Interfamilial sharing of different co-segregating genes was also observed, demonstrating the polygenic nature of this disease. We discovered 6 deleterious variants in 4 genes associated with familial IgAN. These genes are good candidate genes that appear to be causally related to IgAN and warrant further study. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.041
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    ABSTRACT: MiRNAs have recently been implicated in the regulation of autophagy. The present study focuses on how miRNAs expression profiling is linked to the regulation of starvation-induced autophagy. Atg5 wild-type (WT) and knockout (KO) mouse embryonic fibroblasts (MEFs) were starved in Earle's Balanced Salt Solution (EBSS) for 3hours, and miRNA microarray was then performed to compare the miRNA expression profiles. Our results showed that: (1) one hundred miRNAs were significantly altered in both Atg5 WT and KO MEFs during starvation-induced autophagy; (2) among those miRNAs with significant changes upon starvation, 60 of them were upregulated in both Atg5 WT and KO MEFs and only 24 miRNAs were upregulated exclusively in Atg5 KO MEFs; (3) qRT-PCR validation analysis of 8 selected miRNAs showed the high correlation coefficient (r=0.95456) with microarray results; (4) many significantly altered miRNAs were mapped to several key signaling pathways and autophagy-related genes (Atgs) involved in the autophagy process, including (i) the Beclin1-Class III phosphatidylinositol 3-kinase (PI3KC3) complex, (ii) the ULK1 complex, (iii) the RAG/mechanistic target of rapamycin (mTOR) pathway, (iv) the liver kinase B1 (LKB1)-AMP-activated protein kinase(AMPK)-mTOR, and the class I phosphatidylinositol 3-kinase (PI3KC1)-Akt-mTOR pathways. The systematical analysis of the miRNA expression profiling and preliminary network analysis reveal that most of these miRNAs play important roles in autophagy regulation. Our results clearly demonstrate that miRNAs are involved in the autophagy process and understanding the functions of miRNAs provides novel insights into the molecular mechanisms underlying starvation-induced autophagy. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.040
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    ABSTRACT: FMR1 premutation female carriers are at risk for Fragile X-associated primary ovarian insufficiency (FXPOI). Insights from knock-in mouse model have recently demonstrated that FXPOI is due to an increased rate of follicle depletion or an impaired development of the growing follicles. Molecular mechanisms responsible for this reduced viability are still unknown. In an attempt to provide new data on the mechanisms that lead to FXPOI, we report the first investigation involving transcription profiling of total blood from FMR1 premutation females carriers with and without FXPOI. A total of 16 unrelated female individuals (6 FMR1 premutated females with FXPOI; 6 FMR1 premutated females without FXPOI; and 4 no-FXPOI females) were studied by whole human genome oligonucleotide microarray (Agilent Technologies). Fold change analysis did not show any genes with significant differential gene expression. However, functional profiling by gene set analysis showed large number of statistically significant deregulated GO annotations as well as numerous KEGG pathways in FXPOI females. These results suggest that the impairment of fertility in these females might be due to a generalized deregulation of key signaling pathways involved in oocyte maturation. In particular, the vasoendotelial growth factor signaling, the inositol phosphate metabolism, cell cycle, and the MAPK signaling pathways were found to be down-regulated in FXPOI females. Furthermore, a high statistical enrichment of biological processes involved in cell death and survival were found deregulated among FXPOI females. Our results provide new strategic approaches to further investigate the molecular mechanisms and potential therapeutic targets for FXPOI not focused in a single gene but rather in the set of genes involved in these pathways. Copyright © 2015. Published by Elsevier B.V.
    Gene 06/2015; DOI:10.1016/j.gene.2015.06.039