Homo sapiens
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ABSTRACT:
PROVIDER: PRJNA140919 | ENA |
REPOSITORIES: ENA
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Project description:Low Birth Weight (LBW) newborns (with weight less than 2500g) suffer a higher frequency and severity of microbial infection than normal birth weight (NBW) newborns. Morbidity and mortality of LBW infants due to infectious diseases are known to be high and it has been associated with compromised immune functions, however, the complete understanding of the cause is lacking. We, therefore, conducted a gene expression study to identify all the defective pathways and functions in the LBW newborns using DNA microarray. RNA were isolated from the umbilical cord blood of the NBW and LBW newborns and processed for chip hybridisation. Our results suggest down-regulation of genes participating in several canonical pathways vital in the defense response against microbes and perpetuation of immune responses. Pattern recognition receptors (PRRs) and Interferon signaling appear to be most significantly impacted pathways. The information generated from this study may help in depth understanding of the cause of higher frequency of infections in LBW and thus, in turn help devise better therapeutic interventions. Total 12 subjects were included in the study. 4 NBW newborns umblical cord blood samples served as control and 8 LBW newborns umblical cord blood samples were treated as the experimental samples for the study.
2012-01-15 | E-GEOD-29807 | biostudies-arrayexpress
Project description:Low Birth Weight (LBW) newborns (with weight less than 2500g) suffer a higher frequency and severity of microbial infection than normal birth weight (NBW) newborns. Morbidity and mortality of LBW infants due to infectious diseases are known to be high and it has been associated with compromised immune functions, however, the complete understanding of the cause is lacking. We, therefore, conducted a gene expression study to identify all the defective pathways and functions in the LBW newborns using DNA microarray. RNA were isolated from the umbilical cord blood of the NBW and LBW newborns and processed for chip hybridisation. Our results suggest down-regulation of genes participating in several canonical pathways vital in the defense response against microbes and perpetuation of immune responses. Pattern recognition receptors (PRRs) and Interferon signaling appear to be most significantly impacted pathways. The information generated from this study may help in depth understanding of the cause of higher frequency of infections in LBW and thus, in turn help devise better therapeutic interventions.
2012-01-15 | GSE29807 | GEO
Project description:Detection of viral infection by pattern-recognition receptors triggers production of interferon. Secreted interferon binds to cognate receptors, triggering JAK/STAT signaling, resulting in the transcription and production of hundreds of interferon-stimulated genes (ISGs). Our lab identified interferon alpha inducible protein 6 (IFI6) as an ISG that potently suppresses replication of viruses from the Flavivirus genus. To test whether the inhibitory effects of IFI6 were due to activating expression of other antiviral ISGs, we overexpressed IFI6 and a control vector and examined global transcription using RNA-Seq.
2018-12-01 | GSE105771 | GEO
Project description:Detection of viral infection by pattern-recognition receptors triggers production of interferon. Secreted interferon binds to cognate receptors, triggering JAK/STAT signaling, resulting in the transcription and production of hundreds of interferon-stimulated genes (ISGs). Our lab identified lymphocyte antigen 6, locus E (LY6E) as an ISG that enhances infectivity of a subset of enveloped RNA viruses from Flaviviridae, Orthomyxoviridae, and Togaviridae families. To test whether the enhancing effects of LY6E were due to alterations of the global cellular transcriptome, we overexpressed LY6E and a control empty vector and examined global transcription using RNA-Seq.
2018-12-25 | GSE111958 | GEO
Project description:To investigate the possibility of using modern mass spectrometric methods for forecasting, early diagnosis of the causes of respiratory diseases, as well as monitoring the effectiveness of treatment of newborns with very low and extremely low birth weight infants. Results: Based on the analysis of literature data and the results of their own research into the application of modern mass spectrometric methods for early diagnosis of the causes of respiratory disease in preterm infants developed the design of the proteomic analysis of urine of infants revealed characteristic differences of proteome urine of newborn children with respiratory disorders of various origins
2016-06-21 | PXD001773 | Pride
Project description:Type 1 interferon and pattern recognition receptor signaling following particulate matter inhalation
| PRJNA150023 | ENA
Project description:Mirobiota composition in low birth weight infants
| PRJDB10157 | ENA
Project description:Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion: We showed the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 (chromosome 14 open reading frame 132) gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the developmental delay through the altered gene expression Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion: We showed the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 (chromosome 14 open reading frame 132) gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the developmental delay through the altered gene expression Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion: We showed the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 (chromosome 14 open reading frame 132) gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the developmental delay through the altered gene expression. Background: Despite of extensive research the genetic component of extremely low birth weight in newborns has remained obscure. Results: The aim of the case study was to identify candidate gene(s) causing extremely low birth weight (ELBW) in newborns and hypotrophy in infants. A four-member family was studied: mother, father and two ELBW-phenotype children. The studies were carried out due to the medical conditions of the second child at birth and post-partum: peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy, and suspicion of metabolic and chromosomal abnormalities. Whole genome single nucleotide polymorphism (SNP) genotyping array was used to investigate genomic rearrangements in both affected children using peripheral blood DNA samples. Whole blood transcriptome was assessed by using RNA sequencing (RNA-seq) in all four family members. RNA-seq identified a single gene – C14orf132 differentially expressed, with the level of the transcript significantly lower in blood samples of children. Copy number variant (CNV) analysis did not reveal any pathogenic CNVs in the region of C14orf132 gene of both affected children. Conclusion: We showed the importance of combining whole genome CNV and transcriptome analysis in identification of the candidate gene(s) in case studies. We propose the C14orf132 (chromosome 14 open reading frame 132) gene expression to be associated with the ELBW-phenotype. C14orf132 gene is a novel long non-coding RNA (lincRNA) with unknown function, which might be associated with the developmental delay through the altered gene expression.
2016-08-01 | GSE85013 | GEO