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[PMID]:29425202
[Au] Autor:Du M; Li N; Niu B; Liu Y; You D; Jiang D; Ruan C; Qin Z; Song T; Wang W
[Ad] Endereço:Key Lab for Quality, Efficient Cultivation and Security Control of Crops in Colleges and University of Yunnan Province, Honghe University, Mengzi, Yunnan Province, P.R. China.
[Ti] Título:De novo transcriptome analysis of Bagarius yarrelli (Siluriformes: Sisoridae) and the search for potential SSR markers using RNA-Seq.
[So] Source:PLoS One;13(2):e0190343, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The yellow sisorid catfish (Bagarius yarrelli) is a carnivorous freshwater fish that inhabits the Honghe River, Lanchangjiang River and Nujiang River of southern China and other Southeast Asian countries. However, the publicly available genomic data for B. yarrelli are limited. METHODOLOGY AND PRINCIPAL FINDINGS: Illumina Solexa paired-end technology produced 1,706,456 raw reads from muscle, liver and caudal fin tissues of B. yarrelli. Nearly 5 Gb of data were acquired, and de novo assembly generated 14,607 unigenes, with an N50 of 2006 bp. A total of 9093 unigenes showed significant similarities to known proteins in public databases: 4477 and 6391 of B. yarrelli unigenes were mapped to the Gene Ontology (GO) and Clusters of Orthologous Groups (COG) databases, respectively. Moreover, 9635 unigenes were assigned to 242 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. In addition, 8568 microsatellites (simple sequence repeats, SSRs) were detected, and 31 pairs of polymorphic primers were characterized using wild populations of B. yarrelli from the Nujiang River, Yunnan Province, China. CONCLUSION/SIGNIFICANCE: These sequences enrich the genomic resources for B. yarrelli and will benefit future investigations into the evolutionary and biological processes of this and related Bagarius species. The SSR markers developed in this study will facilitate construction of genetic maps, investigations of genetic structures and germplasm polymorphism assessments in B. yarrelli.
[Mh] Termos MeSH primário: Peixes-Gato/genética
Marcadores Genéticos
Análise de Sequência de RNA
Transcriptoma
[Mh] Termos MeSH secundário: Animais
Repetições de Microssatélites/genética
Fases de Leitura Aberta
Reação em Cadeia da Polimerase
Polimorfismo Genético
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Genetic Markers)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180210
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190343


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[PMID]:29309428
[Au] Autor:Sarika K; Hossain F; Muthusamy V; Zunjare RU; Baveja A; Goswami R; Thirunavukkarasu N; Jha SK; Gupta HS
[Ad] Endereço:Division of Genetics, ICAR-Indian Agricultural Research Institute, New Delhi, India.
[Ti] Título:Opaque16, a high lysine and tryptophan mutant, does not influence the key physico-biochemical characteristics in maize kernel.
[So] Source:PLoS One;13(1):e0190945, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The enhancement of lysine and tryptophan in maize is so far basedon opaque2(o2) mutant, that along with the endosperm-modifiersled to development of Quality Protein Maize[QPM]. Though many mutants improving the endospermic protein quality were discovered, they could not be successfully deployed. Recently discovered opaque16 (o16)mutant enhances the lysine and tryptophan content in maize endosperm. In the present study, the influence of o16 on the endosperm modification was analyzed in four F2 populations, two each segregating for o16 allele alone and in combination with o2. The recessive o16o16 seed endosperm was found to be vitreousphenotypically similar to wild-O16O16. The mutant did not influence the degree of kernel opaqueness in o2o2 genetic background as opaqueness in o2o2/O16O16 and o2o2/o16o16 was similar. Grain hardness of o16o16 was comparable with the normal and QPM maize. The pattern of microscopic organization of proteinaceous matrix and starch granules, and zein profiling of the storage protein in o16o16 were found to be similar with normal maize endosperm, but distinct from the o2o2-soft genotype. The pattern in o2o2/o16o16 was unique and different from o2o2 and o16o16 as well. Here we demonstrated the effects of o16 on physico-biochemical characteristics of endosperm and report of o16 possessing negligible influence on kernel modification and hardness, which holds a great significance in maize quality breeding programme.
[Mh] Termos MeSH primário: Lisina/metabolismo
Mutação
Proteínas de Plantas/metabolismo
Triptofano/metabolismo
Zea mays/metabolismo
[Mh] Termos MeSH secundário: Genes de Plantas
Marcadores Genéticos
Proteínas de Plantas/química
Proteínas de Plantas/genética
Zea mays/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Genetic Markers); 0 (Plant Proteins); 8DUH1N11BX (Tryptophan); K3Z4F929H6 (Lysine)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180109
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190945


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[PMID]:29187208
[Au] Autor:Segatto ALA; Reck-Kortmann M; Turchetto C; Freitas LB
[Ad] Endereço:Laboratory of Molecular Evolution, Department of Genetics, Universidade Federal do Rio Grande do Sul, P.O. Box 15053, Porto Alegre, RS, 91501-970, Brazil.
[Ti] Título:Multiple markers, niche modelling, and bioregions analyses to evaluate the genetic diversity of a plant species complex.
[So] Source:BMC Evol Biol;17(1):234, 2017 Nov 29.
[Is] ISSN:1471-2148
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The classification of closely related plants is not straightforward. These morphologically similar taxa frequently maintain their inter-hybridization potential and share ancestral polymorphisms as a consequence of their recent divergence. Under the biological species concept, they may thus not be considered separate species. The Petunia integrifolia complex is especially interesting because, in addition to the features mentioned above, its taxa share a pollinator, and their geographical ranges show multiple overlaps. Here, we combined plastid genome sequences, nuclear microsatellites, AFLP markers, ecological niche modelling, and bioregions analysis to investigate the genetic variability between the different taxa of the P. integrifolia complex in a comprehensive sample covering the entire geographical range of the complex. RESULTS: Results from molecular markers did not fully align with the current taxonomic classification. Niche modelling and bioregions analyses revealed that taxa were associated with different ecological constraints, indicating that the habitat plays an important role in preserving species boundaries. For three taxa, our analyses showed a mostly conserved, non-overlapping geographical distribution over time. However, for two taxa, niche modelling found an overlapping distribution over time; these taxa were also associated with the same bioregions. CONCLUSIONS: cpDNA markers were better able to discriminate between Petunia taxa than SSRs and AFLPs. Overall, our results suggest that the P. integrifolia complex represents a continuum of individuals from distant and historically isolated populations, which share some morphological traits, but are established in four different evolutionary lineages.
[Mh] Termos MeSH primário: Ecossistema
Variação Genética
Geografia
Petunia/genética
[Mh] Termos MeSH secundário: Análise do Polimorfismo de Comprimento de Fragmentos Amplificados
DNA de Cloroplastos/genética
Marcadores Genéticos
Haplótipos/genética
Repetições de Microssatélites/genética
Filogenia
Especificidade da Espécie
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Chloroplast); 0 (Genetic Markers)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171201
[St] Status:MEDLINE
[do] DOI:10.1186/s12862-017-1084-y


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[PMID]:29231000
[Au] Autor:Fan HL; Liu SF; Sun JH; Wang YY
[Ad] Endereço:School of Forensic Medicine, Shanxi Medical University, Taiyuan 030001, China.
[Ti] Título:Time-dependent Expression of MT1A mRNA and MT2A mRNA in the Contused Skeletal Muscle of Rats.
[So] Source:Fa Yi Xue Za Zhi;33(1):6-10, 2017 Feb.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To investigate the time-dependent expression of metallothionein (MT) 1A mRNA and MT2A mRNA in contused skeletal muscle of rats. METHODS: A total of 54 Sprague-Dawley rats were used in this study. The rats were divided into two parts: control group ( =6) and contusion groups (0.5, 1, 6, 12, 18, 24, 30, and 36 h after contusion, =6). Total RNA was extracted from skeletal muscle. The expression levels of MT1A mRNA and MT2A mRNA were detected by SYBR Green I real-time PCR. RESULTS: The expression trends of the two potential marker genes were related to wound age. In addition to 0.5 h, there were significant contrasts between the control group and contused group ( <0.05), about the expression levels of MT1A mRNA and MT2A mRNA in different phases. As the extension of wound age, the relative expression of MT1A mRNA and MT2A mRNA at 1 h, 6 h, 12 h and 18 h after contusion demonstrated upgrade tendency until its expression levels in 18 h peak with 239.41±15.20 and 717.42±50.76, respectively. When time extends to 24 h after injury, the expression of above two marks decreased, respectively. The MT1A mRNA and MT2A mRNA expression levels increased at 30 h and then decreased. CONCLUSIONS: Determination of MT1A mRNA and MT2A mRNA levels by real-time PCR may be useful for the estimation of wound age.
[Mh] Termos MeSH primário: Contusões/genética
Contusões/metabolismo
Músculo Esquelético/metabolismo
RNA Mensageiro/metabolismo
[Mh] Termos MeSH secundário: Animais
Contusões/patologia
Regulação da Expressão Gênica
Marcadores Genéticos
Metalotioneína
Músculo Esquelético/lesões
Ratos
Ratos Sprague-Dawley
Reação em Cadeia da Polimerase em Tempo Real
Fatores de Tempo
Cicatrização
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Genetic Markers); 0 (RNA, Messenger); 0 (metallothionein 2 protein, rat); 9038-94-2 (Metallothionein)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171213
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2017.01.002


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[PMID]:29280877
[Au] Autor:Lesciotto KM; Heuzé Y; Wang Jabs E; Bernstein JM; Richtsmeier JT
[Ad] Endereço:University Park, Pa.; New York, N.Y.; and Pessac, France From the Department of Anthropology, Pennsylvania State University; the Departments of Genetics and Genomic Sciences and Otolaryngology, Icahn School of Medicine at Mount Sinai; and the University of Bordeaux, Bordeaux Archaeological Sciences Cluster of Excellence.
[Ti] Título:Choanal Atresia and Craniosynostosis: Development and Disease.
[So] Source:Plast Reconstr Surg;141(1):156-168, 2018 01.
[Is] ISSN:1529-4242
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.
[Mh] Termos MeSH primário: Anormalidades Múltiplas
Atresia das Cóanas
Craniossinostoses
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Anormalidades Múltiplas/embriologia
Anormalidades Múltiplas/genética
Animais
Atresia das Cóanas/diagnóstico
Atresia das Cóanas/embriologia
Atresia das Cóanas/genética
Craniossinostoses/diagnóstico
Craniossinostoses/embriologia
Craniossinostoses/genética
Marcadores Genéticos
Seres Humanos
Camundongos
Mutação
Nasofaringe/anormalidades
Nasofaringe/anatomia & histologia
Nasofaringe/embriologia
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Genetic Markers); EC 2.7.10.1 (FGFR2 protein, human); EC 2.7.10.1 (Fgfr2 protein, mouse); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171228
[St] Status:MEDLINE
[do] DOI:10.1097/PRS.0000000000003928


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[PMID]:29216965
[Au] Autor:Zhuang GQ; Wang YX
[Ad] Endereço:College of Animal Science and Veterinary Medicine, Henan Agricultural University, Zhengzhou 450002, Henan, China.
[Ti] Título:A Tiny RNA Molecule with a Big Impact on Type 2 Diabetes Mellitus Susceptibility.
[So] Source:Biomed Environ Sci;30(11):855-861, 2017 Nov.
[Is] ISSN:0895-3988
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Diabetes Mellitus Tipo 2/genética
Predisposição Genética para Doença
MicroRNAs/genética
[Mh] Termos MeSH secundário: Marcadores Genéticos
Seres Humanos
Técnicas de Amplificação de Ácido Nucleico
Polimorfismo Genético
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Genetic Markers); 0 (MicroRNAs)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE
[do] DOI:10.3967/bes2017.116


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[PMID]:28470643
[Au] Autor:Habibi I; Sfar I; Kort F; Bouraoui R; Chebil A; Limaiem R; Ayed S; Ben Abdallah T; El Matri L; Gorgi Y
[Ad] Endereço:Research Laboratory of renal Transplantation and Immunopathology (LR03SP01), University Tunis El Manar, Charles Nicolle Hospital, Tunis, Tunisia (Chairmen: Prof. Yousr Gorgi).
[Ti] Título:Complement Component C3 Variant (R102G) and the Risk of Neovascular Age-Related Macular Degeneration in a Tunisian Population.
[Ti] Título:Komplementkomponente C3-Variante (R102G) und das Risiko für exsudative altersbedingte Makuladegeneration in der tunesischen Bevölkerung..
[So] Source:Klin Monbl Augenheilkd;234(4):478-482, 2017 Apr.
[Is] ISSN:1439-3999
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:To explore the association between the polymorphism (S/F) p.R102G in the C3 gene and age-related macular degeneration (AMD) in a Tunisian population. The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) in 207 control subjects free of any eye disease (fundus normal) and 145 patients with exudative AMD. The activity and quantification of and have been made by technical home method and nephelometry, respectively. The prevalence of GG genotype polymorphism was significantly higher in AMD patients compared to controls (OR: 2.41, IC 95% [1.90-3.05], p = 0.0007). However, no correlation was found between this allelic variant and the type of neovascularization. Similarly, there is no association between this polymorphism and the presence of functional and/or quantitative hypocomplementemia. The GG genotype of the gene could be a susceptibility factor for AMD in the Tunisian population. However, it does not seem to influence the clinical profile of the disease.
[Mh] Termos MeSH primário: Complemento C3/genética
Estudos de Associação Genética
Predisposição Genética para Doença/epidemiologia
Predisposição Genética para Doença/genética
Degeneração Macular/epidemiologia
Degeneração Macular/genética
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Feminino
Marcadores Genéticos/genética
Seres Humanos
Incidência
Degeneração Macular/diagnóstico
Masculino
Meia-Idade
Mutação/genética
Reprodutibilidade dos Testes
Medição de Risco/métodos
Sensibilidade e Especificidade
Tunísia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (C3 protein, human); 0 (Complement C3); 0 (Genetic Markers)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180228
[Lr] Data última revisão:
180228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1055/s-0043-104419


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[PMID]:28464818
[Au] Autor:Weidner J; Jarenbäck L; de Jong K; Vonk JM; van den Berge M; Brandsma CA; Boezen HM; Sin D; Bossé Y; Nickle D; Ankerst J; Bjermer L; Postma DS; Faiz A; Tufvesson E
[Ad] Endereço:Respiratory Medicine and Allergology, Department of Clinical Sciences Lund, BMC, D12, Lund University, Skåne University Hospital, 221 84, Lund, Sweden.
[Ti] Título:Sulfatase modifying factor 1 (SUMF1) is associated with Chronic Obstructive Pulmonary Disease.
[So] Source:Respir Res;18(1):77, 2017 May 02.
[Is] ISSN:1465-993X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: It has been observed that mice lacking the sulfatase modifying factor (Sumf1) developed an emphysema-like phenotype. However, it is unknown if SUMF1 may play a role in Chronic Obstructive Pulmonary Disease (COPD) in humans. The aim was to investigate if the expression and genetic regulation of SUMF1 differs between smokers with and without COPD. METHODS: SUMF1 mRNA was investigated in sputum cells and whole blood from controls and COPD patients (all current or former smokers). Expression quantitative trait loci (eQTL) analysis was used to investigate if single nucleotide polymorphisms (SNPs) in SUMF1 were significantly associated with SUMF1 expression. The association of SUMF1 SNPs with COPD was examined in a population based cohort, Lifelines. SUMF1 mRNA from sputum cells, lung tissue, and lung fibroblasts, as well as lung function parameters, were investigated in relation to genotype. RESULTS: Certain splice variants of SUMF1 showed a relatively high expression in lung tissue compared to many other tissues. SUMF1 Splice variant 2 and 3 showed lower levels in sputum cells from COPD patients as compared to controls. Twelve SNPs were found significant by eQTL analysis and overlapped with the array used for genotyping of Lifelines. We found alterations in mRNA expression in sputum cells and lung fibroblasts associated with SNP rs11915920 (top hit in eQTL), which validated the results of the lung tissue eQTL analysis. Of the twelve SNPs, two SNPs, rs793391 and rs308739, were found to be associated with COPD in Lifelines. The SNP rs793391 was also confirmed to be associated with lung function changes. CONCLUSIONS: We show that SUMF1 expression is affected in COPD patients compared to controls, and that SNPs in SUMF1 are associated with an increased risk of COPD. Certain COPD-associated SNPs have effects on either SUMF1 gene expression or on lung function. Collectively, this study shows that SUMF1 is associated with an increased risk of developing COPD.
[Mh] Termos MeSH primário: Polimorfismo de Nucleotídeo Único/genética
Doença Pulmonar Obstrutiva Crônica/epidemiologia
Doença Pulmonar Obstrutiva Crônica/genética
Fumar/epidemiologia
Fumar/genética
Sulfatases/sangue
Sulfatases/genética
[Mh] Termos MeSH secundário: Idoso
Biomarcadores/sangue
Feminino
Estudos de Associação Genética
Marcadores Genéticos/genética
Predisposição Genética para Doença/genética
Seres Humanos
Masculino
Prevalência
Doença Pulmonar Obstrutiva Crônica/metabolismo
Reprodutibilidade dos Testes
Fatores de Risco
Sensibilidade e Especificidade
Fumar/metabolismo
Escarro/metabolismo
Suécia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Genetic Markers); EC 3.1.6.- (SUMF1 protein, human); EC 3.1.6.- (Sulfatases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1186/s12931-017-0562-5


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[PMID]:28460026
[Au] Autor:Perrino C; Barabási AL; Condorelli G; Davidson SM; De Windt L; Dimmeler S; Engel FB; Hausenloy DJ; Hill JA; Van Laake LW; Lecour S; Leor J; Madonna R; Mayr M; Prunier F; Sluijter JPG; Schulz R; Thum T; Ytrehus K; Ferdinandy P
[Ad] Endereço:Department of Advanced Biomedical Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy.
[Ti] Título:Epigenomic and transcriptomic approaches in the post-genomic era: path to novel targets for diagnosis and therapy of the ischaemic heart? Position Paper of the European Society of Cardiology Working Group on Cellular Biology of the Heart.
[So] Source:Cardiovasc Res;113(7):725-736, 2017 Jun 01.
[Is] ISSN:1755-3245
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Despite advances in myocardial reperfusion therapies, acute myocardial ischaemia/reperfusion injury and consequent ischaemic heart failure represent the number one cause of morbidity and mortality in industrialized societies. Although different therapeutic interventions have been shown beneficial in preclinical settings, an effective cardioprotective or regenerative therapy has yet to be successfully introduced in the clinical arena. Given the complex pathophysiology of the ischaemic heart, large scale, unbiased, global approaches capable of identifying multiple branches of the signalling networks activated in the ischaemic/reperfused heart might be more successful in the search for novel diagnostic or therapeutic targets. High-throughput techniques allow high-resolution, genome-wide investigation of genetic variants, epigenetic modifications, and associated gene expression profiles. Platforms such as proteomics and metabolomics (not described here in detail) also offer simultaneous readouts of hundreds of proteins and metabolites. Isolated omics analyses usually provide Big Data requiring large data storage, advanced computational resources and complex bioinformatics tools. The possibility of integrating different omics approaches gives new hope to better understand the molecular circuitry activated by myocardial ischaemia, putting it in the context of the human 'diseasome'. Since modifications of cardiac gene expression have been consistently linked to pathophysiology of the ischaemic heart, the integration of epigenomic and transcriptomic data seems a promising approach to identify crucial disease networks. Thus, the scope of this Position Paper will be to highlight potentials and limitations of these approaches, and to provide recommendations to optimize the search for novel diagnostic or therapeutic targets for acute ischaemia/reperfusion injury and ischaemic heart failure in the post-genomic era.
[Mh] Termos MeSH primário: Cardiologia/normas
Epigênese Genética
Epigenômica/normas
Perfilação da Expressão Gênica/normas
Isquemia Miocárdica/genética
Medicina de Precisão/normas
Transcriptoma
[Mh] Termos MeSH secundário: Biologia Computacional/normas
Bases de Dados Genéticas/normas
Marcadores Genéticos
Predisposição Genética para Doença
Seres Humanos
Isquemia Miocárdica/diagnóstico
Isquemia Miocárdica/terapia
Seleção de Pacientes
Fenótipo
Valor Preditivo dos Testes
Prognóstico
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE; PRACTICE GUIDELINE; REVIEW
[Nm] Nome de substância:
0 (Genetic Markers)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE
[do] DOI:10.1093/cvr/cvx070


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[PMID]:29372690
[Au] Autor:Dankova Z; Zubor P; Grendar M; Kapinova A; Zelinova K; Jagelkova M; Gondova A; Dokus K; Kalman M; Lasabova Z; Danko J
[Ad] Endereço:Division of Oncology, Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Slovakia. dankova@jfmed.uniba.sk.
[Ti] Título:Association of single nucleotide polymorphisms in FGF-RAS/MAP signalling cascade with breast cancer susceptibility.
[So] Source:Gen Physiol Biophys;36(5):565-572, 2017 Dec.
[Is] ISSN:0231-5882
[Cp] País de publicação:Slovakia
[La] Idioma:eng
[Ab] Resumo:The fibroblast growth factor receptors (FGFRs) and Ras/mitogen activated protein (RAS/MAP) signalling cascades are the main molecular pathways involved in breast carcinogenesis. This study aims to determine the association between FGF10 (rs4415084 C>T), FGFR2 (rs2981582 C>T) and MAP3K1 (rs889312 A>C) gene polymorphisms and breast cancer, to analyse the discriminative ability of each SNP and to test the accuracy of the predictive breast cancer risk model which includes all SNPs. We conducted a case-control study of 170 women (57.06 ± 11.60 years) with histologically confirmed breast cancer and 146 controls (50.24 ± 10.69 years). High resolution melting (HRM) method with Sanger sequencing validation was used in analyses. We have revealed significant association of FGFR2 and MAP3K1 polymorphisms with breast cancer. The odds ratio of FGFR2 T allele was 1.897 (95% CI 1.231-2.936, p = 0.004) and MAP3K1 C allele 1.804 (95% CI 1.151-2.845, p = 0.012). FGFR2 polymorphism achieved the best discriminative ability (41.95%). The Random Forest algorithm selected FGFR2, MAP3K1 and age as important breast cancer predictors. The accuracy of this prediction model approached moderate accuracy (70%), with 35.9% sensitivity and 88.6% specificity.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/genética
Neoplasias da Mama/genética
Fator 10 de Crescimento de Fibroblastos/genética
Predisposição Genética para Doença/genética
MAP Quinase Quinase Quinase 1/genética
Polimorfismo de Nucleotídeo Único/genética
Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética
[Mh] Termos MeSH secundário: Neoplasias da Mama/epidemiologia
Neoplasias da Mama/metabolismo
Feminino
Estudos de Associação Genética
Marcadores Genéticos/genética
Predisposição Genética para Doença/epidemiologia
Seres Humanos
Incidência
Meia-Idade
Reprodutibilidade dos Testes
Medição de Risco/métodos
Sensibilidade e Especificidade
Transdução de Sinais/genética
Eslováquia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (FGF10 protein, human); 0 (Fibroblast Growth Factor 10); 0 (Genetic Markers); EC 2.7.10.1 (FGFR2 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 2); EC 2.7.11.25 (MAP Kinase Kinase Kinase 1); EC 2.7.11.25 (MAP3K1 protein, human)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180223
[Lr] Data última revisão:
180223
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180127
[St] Status:MEDLINE
[do] DOI:10.4149/gpb_2017033



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