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Pesquisa : D08.811.464.938.750.210.500 [Categoria DeCS]
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[PMID]:28771586
[Au] Autor:Mascarenhas DPA; Cerqueira DM; Pereira MSF; Castanheira FVS; Fernandes TD; Manin GZ; Cunha LD; Zamboni DS
[Ad] Endereço:Department of Cell Biology, School of Medicine of Ribeirão Preto, University of São Paulo. Ribeirão Preto, Brazil.
[Ti] Título:Inhibition of caspase-1 or gasdermin-D enable caspase-8 activation in the Naip5/NLRC4/ASC inflammasome.
[So] Source:PLoS Pathog;13(8):e1006502, 2017 Aug.
[Is] ISSN:1553-7374
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Legionella pneumophila is a Gram-negative, flagellated bacterium that survives in phagocytes and causes Legionnaires' disease. Upon infection of mammalian macrophages, cytosolic flagellin triggers the activation of Naip/NLRC4 inflammasome, which culminates in pyroptosis and restriction of bacterial replication. Although NLRC4 and caspase-1 participate in the same inflammasome, Nlrc4-/- mice and their macrophages are more permissive to L. pneumophila replication compared with Casp1/11-/-. This feature supports the existence of a pathway that is NLRC4-dependent and caspase-1/11-independent. Here, we demonstrate that caspase-8 is recruited to the Naip5/NLRC4/ASC inflammasome in response to flagellin-positive bacteria. Accordingly, caspase-8 is activated in Casp1/11-/- macrophages in a process dependent on flagellin, Naip5, NLRC4 and ASC. Silencing caspase-8 in Casp1/11-/- cells culminated in macrophages that were as susceptible as Nlrc4-/- for the restriction of L. pneumophila replication. Accordingly, macrophages and mice deficient in Asc/Casp1/11-/- were more susceptible than Casp1/11-/- and as susceptible as Nlrc4-/- for the restriction of infection. Mechanistically, we found that caspase-8 activation triggers gasdermin-D-independent pore formation and cell death. Interestingly, caspase-8 is recruited to the Naip5/NLRC4/ASC inflammasome in wild-type macrophages, but it is only activated when caspase-1 or gasdermin-D is inhibited. Our data suggest that caspase-8 activation in the Naip5/NLRC4/ASC inflammasome enable induction of cell death when caspase-1 or gasdermin-D is suppressed.
[Mh] Termos MeSH primário: Proteínas Reguladoras de Apoptose/imunologia
Caspase 1/imunologia
Caspase 8/imunologia
Inflamassomos/imunologia
Doença dos Legionários/imunologia
[Mh] Termos MeSH secundário: Animais
Proteínas Reguladoras de Apoptose/antagonistas & inibidores
Proteínas Adaptadoras de Sinalização CARD
Proteínas de Ligação ao Cálcio
Caspase 1/metabolismo
Caspase 8/metabolismo
Modelos Animais de Doenças
Ativação Enzimática/imunologia
Ensaio de Imunoadsorção Enzimática
Técnicas de Silenciamento de Genes
Inflamassomos/metabolismo
Legionella pneumophila
Macrófagos/microbiologia
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Proteína Inibidora de Apoptose Neuronal
Reação em Cadeia da Polimerase em Tempo Real
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apoptosis Regulatory Proteins); 0 (CARD Signaling Adaptor Proteins); 0 (Calcium-Binding Proteins); 0 (Gsdmd protein, mouse); 0 (Inflammasomes); 0 (Ipaf protein, mouse); 0 (Naip5 protein, mouse); 0 (Neuronal Apoptosis-Inhibitory Protein); 0 (Pycard protein, mouse); EC 3.4.22.- (Caspase 8); EC 3.4.22.36 (Caspase 1)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE
[do] DOI:10.1371/journal.ppat.1006502


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[PMID]:28410991
[Au] Autor:Rauch I; Deets KA; Ji DX; von Moltke J; Tenthorey JL; Lee AY; Philip NH; Ayres JS; Brodsky IE; Gronert K; Vance RE
[Ad] Endereço:Division of Immunology & Pathogenesis, Department of Molecular & Cell Biology, University of California, Berkeley, CA 94720, USA.
[Ti] Título:NAIP-NLRC4 Inflammasomes Coordinate Intestinal Epithelial Cell Expulsion with Eicosanoid and IL-18 Release via Activation of Caspase-1 and -8.
[So] Source:Immunity;46(4):649-659, 2017 Apr 18.
[Is] ISSN:1097-4180
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Intestinal epithelial cells (IECs) form a critical barrier against pathogen invasion. By generation of mice in which inflammasome expression is restricted to IECs, we describe a coordinated epithelium-intrinsic inflammasome response in vivo. This response was sufficient to protect against Salmonella tissue invasion and involved a previously reported IEC expulsion that was coordinated with lipid mediator and cytokine production and lytic IEC death. Excessive inflammasome activation in IECs was sufficient to result in diarrhea and pathology. Experiments with IEC organoids demonstrated that IEC expulsion did not require other cell types. IEC expulsion was accompanied by a major actin rearrangement in neighboring cells that maintained epithelium integrity but did not absolutely require Caspase-1 or Gasdermin D. Analysis of Casp1 Casp8 mice revealed a functional Caspase-8 inflammasome in vivo. Thus, a coordinated IEC-intrinsic, Caspase-1 and -8 inflammasome response plays a key role in intestinal immune defense and pathology.
[Mh] Termos MeSH primário: Proteínas Reguladoras de Apoptose/metabolismo
Proteínas de Ligação ao Cálcio/metabolismo
Caspase 1/metabolismo
Caspase 8/metabolismo
Eicosanoides/secreção
Células Epiteliais/metabolismo
Interleucina-18/secreção
Proteína Inibidora de Apoptose Neuronal/metabolismo
[Mh] Termos MeSH secundário: Animais
Proteínas Reguladoras de Apoptose/genética
Proteínas de Ligação ao Cálcio/genética
Caspase 1/genética
Caspase 8/genética
Ativação Enzimática
Ensaio de Imunoadsorção Enzimática
Células Epiteliais/microbiologia
Inflamassomos/genética
Inflamassomos/metabolismo
Mucosa Intestinal/metabolismo
Mucosa Intestinal/microbiologia
Mucosa Intestinal/patologia
Camundongos Endogâmicos C57BL
Camundongos Knockout
Camundongos Transgênicos
Microscopia Confocal
Infecções por Salmonella/metabolismo
Infecções por Salmonella/microbiologia
Salmonella typhimurium/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Apoptosis Regulatory Proteins); 0 (Calcium-Binding Proteins); 0 (Eicosanoids); 0 (Gsdmd protein, mouse); 0 (Inflammasomes); 0 (Interleukin-18); 0 (Ipaf protein, mouse); 0 (Naip1 protein, mouse); 0 (Neuronal Apoptosis-Inhibitory Protein); EC 3.4.22.- (Caspase 8); EC 3.4.22.36 (Caspase 1)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170416
[St] Status:MEDLINE


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[PMID]:28368400
[Au] Autor:Madapura HS; Nagy N; Ujvari D; Kallas T; Kröhnke MCL; Amu S; Björkholm M; Stenke L; Mandal PK; McMurray JS; Keszei M; Westerberg LS; Cheng H; Xue F; Klein G; Klein E; Salamon D
[Ad] Endereço:Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
[Ti] Título:Interferon γ is a STAT1-dependent direct inducer of BCL6 expression in imatinib-treated chronic myeloid leukemia cells.
[So] Source:Oncogene;36(32):4619-4628, 2017 Aug 10.
[Is] ISSN:1476-5594
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:B-cell CLL/lymphoma 6 (BCL6) exerts oncogenic effects in several human hematopoietic malignancies including chronic myeloid leukemia (CML), where BCL6 expression was shown to be essential for CML stem cell survival and self-renewal during imatinib mesylate (IM) treatment. As several lines of evidence suggest that interferon γ (IFNγ) production in CML patients might have a central role in the response to tyrosine kinase inhibitor (TKI) therapy, we analyzed if IFNγ modulates BCL6 expression in CML cells. Although separate IFNγ or IM treatment only slightly upregulated BCL6 expression, combined treatment induced remarkable BCL6 upregulation in CML lines and primary human CD34+ CML stem cells. We proved that during combined treatment, inhibition of constitutive signal transducer and activator of transcription (STAT) 5 activation by IM allowed the specific enhancement of the STAT1 dependent, direct upregulation of BCL6 by IFNγ in CML cells. By using colony-forming assay, we found that IFNγ enhanced the ex vivo colony or cluster-forming capacity of human CML stem cells in the absence or presence of IM, respectively. Furthermore, inhibition of the transcriptional repressor function of BCL6 in the presence of IM and IFNγ almost completely blocked the cluster formation of human CML stem cells. On the other hand, by using small interfering RNA knockdown of BCL6, we demonstrated that in an IM-treated CML line the antiapoptotic effect of IFNγ was independent of BCL6 upregulation. We found that IFNγ also upregulated several antiapoptotic members of the BCL2 and BIRC gene families in CML cells, including the long isoform of MCL1, which proved to be essential for the antiapoptotic effect of IFNγ in an IM-treated CML line. Our results suggest that combination of TKIs with BCL6 and MCL1 inhibitors may potentially lead to the complete eradication of CML stem cells.
[Mh] Termos MeSH primário: Mesilato de Imatinib/uso terapêutico
Interferon gama/uso terapêutico
Leucemia Mieloide de Fase Crônica/tratamento farmacológico
Proteínas Proto-Oncogênicas/metabolismo
Proteínas Repressoras/metabolismo
Fator de Transcrição STAT1/metabolismo
[Mh] Termos MeSH secundário: Antígenos CD34/metabolismo
Linhagem Celular Tumoral
Seres Humanos
Mesilato de Imatinib/farmacologia
Interferon gama/farmacologia
Leucaférese
Leucemia Mieloide de Fase Crônica/metabolismo
Proteína de Sequência 1 de Leucemia de Células Mieloides/metabolismo
Células-Tronco Neoplásicas/efeitos dos fármacos
Proteína Inibidora de Apoptose Neuronal/efeitos dos fármacos
Proteína Inibidora de Apoptose Neuronal/metabolismo
Proteínas Proto-Oncogênicas/genética
RNA Interferente Pequeno/genética
RNA Interferente Pequeno/metabolismo
Proteínas Repressoras/genética
Fator de Transcrição STAT1/genética
Fator de Transcrição STAT5/genética
Fator de Transcrição STAT5/metabolismo
Proteína de Morte Celular Associada a bcl/efeitos dos fármacos
Proteína de Morte Celular Associada a bcl/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD34); 0 (BCOR protein, human); 0 (MCL1 protein, human); 0 (Myeloid Cell Leukemia Sequence 1 Protein); 0 (NAIP protein, human); 0 (Neuronal Apoptosis-Inhibitory Protein); 0 (Proto-Oncogene Proteins); 0 (RNA, Small Interfering); 0 (Repressor Proteins); 0 (STAT1 Transcription Factor); 0 (STAT1 protein, human); 0 (STAT5 Transcription Factor); 0 (bcl-Associated Death Protein); 82115-62-6 (Interferon-gamma); 8A1O1M485B (Imatinib Mesylate)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170404
[St] Status:MEDLINE
[do] DOI:10.1038/onc.2017.85


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[PMID]:28327526
[Au] Autor:Morgia G; Micali A; Rinaldi M; Irrera N; Marini H; Puzzolo D; Pisani A; Privitera S; Russo GI; Cimino S; Ieni A; Trichilo V; Altavilla D; Squadrito F; Minutoli L
[Ad] Endereço:Department of Urology, Polyclinic Hospital, University of Catania, 95124 Catania, Italy. gmorgia@policlinico.unict.it.
[Ti] Título:Survivin and NAIP in Human Benign Prostatic Hyperplasia: Protective Role of the Association of Serenoa repens, Lycopene and Selenium from the Randomized Clinical Study.
[So] Source:Int J Mol Sci;18(3), 2017 Mar 22.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Benign prostatic hyperplasia (BPH) treatment includes the apoptosis machinery modulation through the direct inhibition of caspase cascade. We previously demonstrated that (Ser) with lycopene (Ly) and selenium (Se) reawakened apoptosis by reducing survivin and neuronal apoptosis inhibitory protein (NAIP) levels in rats. The aim of this study was to evaluate the effectiveness of Ser-Se-Ly association on survivin and NAIP expression in BPH patients. Ninety patients with lower urinary tract symptoms (LUTS) due to clinical BPH were included in this randomized, double-blind, placebo-controlled trial. Participants were randomly assigned to receive placebo (Group BPH + placebo, = 45) or Ser-Se-Ly association (Group BPH + Ser-Se-Ly; = 45) for 3 months. At time 0, all patients underwent prostatic biopsies. After 3 months of treatment, they underwent prostatic re-biopsy and specimens were collected for molecular, morphological, and immunohistochemical analysis. After 3 months, survivin and NAIP were significantly decreased, while caspase-3 was significantly increased in BPH patients treated with Ser-Se-Ly when compared with the other group. In BPH patients treated with Ser-Se-Ly for 3 months, the glandular epithelium was formed by a single layer of cuboidal cells. PSA showed high immunoexpression in all BPH patients and a focal positivity in Ser-Se-Ly treated patients after 3 months. Evident prostate specific membrane antigen (PSMA) immunoexpression was shown in all BPH patients, while no positivity was present after Ser-Se-Ly administration. Ser-Se-Ly proved to be effective in promoting apoptosis in BPH patients.
[Mh] Termos MeSH primário: Proteínas Inibidoras de Apoptose/metabolismo
Proteína Inibidora de Apoptose Neuronal/metabolismo
Hiperplasia Prostática/metabolismo
Hiperplasia Prostática/patologia
[Mh] Termos MeSH secundário: Idoso
Antígenos de Superfície/genética
Antígenos de Superfície/metabolismo
Apoptose/efeitos dos fármacos
Biomarcadores
Carotenoides/farmacologia
Regulação da Expressão Gênica/efeitos dos fármacos
Glutamato Carboxipeptidase II/genética
Glutamato Carboxipeptidase II/metabolismo
Seres Humanos
Imuno-Histoquímica
Proteínas Inibidoras de Apoptose/genética
Masculino
Meia-Idade
Proteína Inibidora de Apoptose Neuronal/genética
Extratos Vegetais/farmacologia
Hiperplasia Prostática/etiologia
Hiperplasia Prostática/prevenção & controle
Selênio/farmacologia
Compostos de Selênio/farmacologia
Serenoa/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, Surface); 0 (BIRC5 protein, human); 0 (Biomarkers); 0 (Inhibitor of Apoptosis Proteins); 0 (Neuronal Apoptosis-Inhibitory Protein); 0 (Plant Extracts); 0 (Selenium Compounds); 36-88-4 (Carotenoids); EC 3.4.17.21 (Glutamate Carboxypeptidase II); EC 3.4.17.21 (glutamate carboxypeptidase II, human); H6241UJ22B (Selenium); SB0N2N0WV6 (lycopene)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170420
[Lr] Data última revisão:
170420
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE


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[PMID]:28228276
[Au] Autor:Aden K; Rosenstiel P
[Ad] Endereço:Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel, Rosalind-Franklin Str. 12, D-24105 Kiel, Germany.
[Ti] Título:The Dark Age(ing) of the Inflammasome.
[So] Source:Immunity;46(2):173-175, 2017 02 21.
[Is] ISSN:1097-4180
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mechanisms that contribute to healthy aging remain obscure. In a recent issue of Nature Medicine, Furman et al. (2017) describe that dietary caffeine inhibits the NLRC4 inflammasome, which is associated with disease-free aging.
[Mh] Termos MeSH primário: Inflamassomos
Proteína Inibidora de Apoptose Neuronal
[Mh] Termos MeSH secundário: Proteínas Reguladoras de Apoptose
Proteínas de Ligação ao Cálcio
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; COMMENT
[Nm] Nome de substância:
0 (Apoptosis Regulatory Proteins); 0 (Calcium-Binding Proteins); 0 (Inflammasomes); 0 (Neuronal Apoptosis-Inhibitory Protein)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171122
[Lr] Data última revisão:
171122
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170224
[St] Status:MEDLINE


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[PMID]:27796443
[Au] Autor:Sakuma C; Toki D; Shinkai H; Takenouchi T; Sato M; Kitani H; Uenishi H
[Ad] Endereço:Animal Bioregulation Unit, Division of Animal Sciences, Institute of Agrobiological Sciences, National Agriculture and Food Research Organization, 1-2 Owashi, Tsukuba, Ibaraki, 305-8634, Japan.
[Ti] Título:Pig lacks functional NLRC4 and NAIP genes.
[So] Source:Immunogenetics;69(2):125-130, 2017 Feb.
[Is] ISSN:1432-1211
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The NLRC4 inflammasome, which recognizes flagellin and components of the type III secretion system, plays an important role in the clearance of intracellular bacteria. Here, we examined the genomic sequences carrying two genes encoding key components of the NLRC4 inflammasome-NLR family, CARD-containing 4 (NLRC4), and NLR apoptosis inhibitory protein (NAIP)-in pigs. Pigs have a single locus encoding NLRC4 and NAIP. Comparison of the sequences thus obtained with the corresponding regions in humans revealed the deletion of intermediate exons in both pig genes. In addition, the genomic sequences of both pig genes lacked valid open reading frames encoding functional NLRC4 or NAIP protein. Additional pigs representing multiple breeds and wild boars also lacked the exons that we failed to find through genome sequencing. Furthermore, neither the NLRC4 nor the NAIP gene was expressed in pigs. These findings indicate that pigs lack the NLRC4 inflammasome, an important factor involved in monitoring bacterial proteins and contributing to the clearance of intracellular pathogens. These results also suggest that genetic polymorphisms affecting the molecular functions of TLR2, TLR4, TLR5, and other pattern recognition receptors associated with the recognition of bacteria have a more profound influence on disease resistance in pigs than in other species.
[Mh] Termos MeSH primário: Bactérias/imunologia
Proteínas Adaptadoras de Sinalização CARD/genética
Genoma
Imunidade Inata/imunologia
Inflamassomos/genética
Proteína Inibidora de Apoptose Neuronal/genética
[Mh] Termos MeSH secundário: Animais
Células Cultivadas
Inflamassomos/imunologia
Macrófagos/imunologia
Macrófagos/metabolismo
Suínos
Receptores Toll-Like/genética
Receptores Toll-Like/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CARD Signaling Adaptor Proteins); 0 (Inflammasomes); 0 (Neuronal Apoptosis-Inhibitory Protein); 0 (Toll-Like Receptors)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161101
[St] Status:MEDLINE
[do] DOI:10.1007/s00251-016-0955-5


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[PMID]:27754957
[Au] Autor:Li L; Zhou WJ; Fang P; Zhong ZY; Xie JS; Yan TZ; Zeng J; Tan XH; Xu XM
[Ti] Título:Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.
[So] Source:Clin Chem Lab Med;55(3):358-367, 2017 Mar 01.
[Is] ISSN:1437-4331
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Spinal muscular atrophy (SMA) is mainly caused by deletions in SMA-related genes. The objective of this study was to develop gene-dosage assays for diagnosing SMA. METHODS: A multiplex, quantitative PCR assay and a CNVplex assay were developed for determining the copy number of SMN1, SMN2, and NAIP. Reproducibility and specificity of the two assays were compared to a multiple ligation-dependent probe amplification (MLPA) assay. To evaluate reproducibility, 30 samples were analyzed three times using the three assays. A total of 317 samples were used to assess the specificity of the two assays. RESULTS: The multiplex quantitative PCR (qPCR) assay had higher reproducibility. Intra-assay CVs were 3.01%-8.52% and inter-assay CVs were 4.12%-6.24%. The CNVplex assay had ratios that were closer to expected (0.49-0.5 for one copy, 1.03-1.0 for two copies, and 1.50-1.50 for three copies). Diagnostic accuracy rates for the two assays were 100%. CONCLUSIONS: The multiplex qPCR assay was a simple, rapid, and cost-effective method for routine SMA diagnosis and carrier screening. The CNVplex assay could be used to detect SMAs with complicated gene structures. The assays were reliable and could be used as alternative methods for clinical diagnosis of SMA.
[Mh] Termos MeSH primário: Variações do Número de Cópias de DNA/genética
Marcadores Genéticos/genética
Atrofia Muscular Espinal/diagnóstico
Proteína Inibidora de Apoptose Neuronal/genética
Proteína 1 de Sobrevivência do Neurônio Motor/genética
[Mh] Termos MeSH secundário: Genótipo
Seres Humanos
Reação em Cadeia da Polimerase Multiplex
Atrofia Muscular Espinal/genética
Reprodutibilidade dos Testes
Deleção de Sequência
Proteína 2 de Sobrevivência do Neurônio Motor/genética
[Pt] Tipo de publicação:COMPARATIVE STUDY; EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Genetic Markers); 0 (NAIP protein, human); 0 (Neuronal Apoptosis-Inhibitory Protein); 0 (SMN1 protein, human); 0 (SMN2 protein, human); 0 (Survival of Motor Neuron 1 Protein); 0 (Survival of Motor Neuron 2 Protein)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161019
[St] Status:MEDLINE


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[PMID]:27806695
[Au] Autor:van der Burg CA; Prentis PJ; Surm JM; Pavasovic A
[Ad] Endereço:School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, GPO Box 2434, Brisbane, Qld, 4000, Australia. chloe.vanderburg@hdr.qut.edu.au.
[Ti] Título:Insights into the innate immunome of actiniarians using a comparative genomic approach.
[So] Source:BMC Genomics;17(1):850, 2016 11 02.
[Is] ISSN:1471-2164
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Innate immune genes tend to be highly conserved in metazoans, even in early divergent lineages such as Cnidaria (jellyfish, corals, hydroids and sea anemones) and Porifera (sponges). However, constant and diverse selection pressures on the immune system have driven the expansion and diversification of different immune gene families in a lineage-specific manner. To investigate how the innate immune system has evolved in a subset of sea anemone species (Order: Actiniaria), we performed a comprehensive and comparative study using 10 newly sequenced transcriptomes, as well as three publically available transcriptomes, to identify the origins, expansions and contractions of candidate and novel immune gene families. RESULTS: We characterised five conserved genes and gene families, as well as multiple novel innate immune genes, including the newly recognised putative pattern recognition receptor CniFL. Single copies of TLR, MyD88 and NF-κB were found in most species, and several copies of IL-1R-like, NLR and CniFL were found in almost all species. Multiple novel immune genes were identified with domain architectures including the Toll/interleukin-1 receptor (TIR) homology domain, which is well documented as functioning in protein-protein interactions and signal transduction in immune pathways. We hypothesise that these genes may interact as novel proteins in immune pathways of cnidarian species. Novelty in the actiniarian immunome is not restricted to only TIR-domain-containing proteins, as we identify a subset of NLRs which have undergone neofunctionalisation and contain 3-5 N-terminal transmembrane domains, which have so far only been identified in two anthozoan species. CONCLUSIONS: This research has significance in understanding the evolution and origin of the core eumetazoan gene set, including how novel innate immune genes evolve. For example, the evolution of transmembrane domain containing NLRs indicates that these NLRs may be membrane-bound, while all other metazoan and plant NLRs are exclusively cytosolic receptors. This is one example of how species without an adaptive immune system may evolve innovative solutions to detect pathogens or interact with native microbiota. Overall, these results provide an insight into the evolution of the innate immune system, and show that early divergent lineages, such as actiniarians, have a diverse repertoire of conserved and novel innate immune genes.
[Mh] Termos MeSH primário: Genoma
Genômica
Imunidade Inata/genética
Anêmonas-do-Mar/genética
Anêmonas-do-Mar/imunologia
[Mh] Termos MeSH secundário: Animais
Biologia Computacional/métodos
Epistasia Genética
Evolução Molecular
Perfilação da Expressão Gênica/métodos
Ontologia Genética
Genômica/métodos
Família Multigênica
Proteína Inibidora de Apoptose Neuronal/genética
Proteína Inibidora de Apoptose Neuronal/metabolismo
Filogenia
Reprodutibilidade dos Testes
Anêmonas-do-Mar/classificação
Transcriptoma
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Neuronal Apoptosis-Inhibitory Protein)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171119
[Lr] Data última revisão:
171119
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161104
[St] Status:MEDLINE


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[PMID]:27534852
[Au] Autor:Liu Z; Zhang P; He X; Liu S; Tang S; Zhang R; Wang X; Tan J; Peng B; Jiang L; Hong S; Zou L
[Ad] Endereço:Center for Clinical Molecular Medicine, Children's Hospital, Chongqing Medical University, 136 Zhongshan Er Road, Yuzhong District, Chongqing, 400014, China.
[Ti] Título:New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy.
[So] Source:BMC Neurol;16(1):141, 2016 Aug 17.
[Is] ISSN:1471-2377
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Spinal muscular atrophy (SMA) is the most common autosomal recessive disease in children, and the diagnosis is complicated and difficult, especially at early stage. Early diagnosis of SMA is able to improve the outcome of SMA patients. In our study, Real-time PCR was developed to measure the gene mutation or deletion of key genes for SMA and to further analyse genotype-phenotype correlation. METHODS: The multiple real-time PCR for detecting the mutations of survival of motor neuron (SMN), apoptosis inhibitory protein (NAIP) and general transcription factor IIH, polypeptide 2 gene (GTF2H2) was established and confirmed by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). The diagnosis and prognosis of 141 hospitalized children, 100 normal children and further 2000 cases of dry blood spot (DBS) samples were analysed by this multiple real-time PCR. RESULTS: The multiple real-time PCR was established and the accuracy of it to detect the mutations of SMN, NAIP and GTF2H2 was at least 98.8 % comparing with DNA sequencing and MLPA. Among 141 limb movement disorders children, 75 cases were SMA. 71 cases of SMA (94.67 %) were with SMN c.840 mutation, 9 cases (12 %) with NAIP deletion and 3 cases (4 %) with GTF2H2 deletion. The multiple real-time PCR was able to diagnose and predict the prognosis of SMA patients. Simultaneously, the real-time PCR was applied to detect trace DNA from DBS and able to make an early diagnosis of SMA. CONCLUSION: The clinical and molecular characteristics of SMA in Southwest of China were presented. Our work provides a novel way for detecting SMA in children by using real-time PCR and the potential usage in newborn screening for early diagnosis of SMA.
[Mh] Termos MeSH primário: Atrofia Muscular Espinal/diagnóstico
Atrofia Muscular Espinal/genética
Reação em Cadeia da Polimerase em Tempo Real/métodos
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
China
Feminino
Seres Humanos
Lactente
Recém-Nascido
Masculino
Triagem Neonatal/métodos
Proteínas do Tecido Nervoso/genética
Proteína Inibidora de Apoptose Neuronal/genética
Proteína 1 de Sobrevivência do Neurônio Motor/genética
Fatores de Transcrição/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAIP protein, human); 0 (Nerve Tissue Proteins); 0 (Neuronal Apoptosis-Inhibitory Protein); 0 (Survival of Motor Neuron 1 Protein); 0 (Transcription Factors)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160819
[St] Status:MEDLINE
[do] DOI:10.1186/s12883-016-0651-y


  10 / 316 MEDLINE  
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[PMID]:27510309
[Au] Autor:Medrano S; Monges S; Gravina LP; Alías L; Mozzoni J; Aráoz HV; Bernal S; Moresco A; Chertkoff L; Tizzano E
[Ad] Endereço:Laboratorio de Biología Molecular, Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
[Ti] Título:Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
[So] Source:Eur J Paediatr Neurol;20(6):910-917, 2016 Nov.
[Is] ISSN:1532-2130
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/PURPOSE: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder, considered one of the leading causes of infant mortality. It is caused by mutations in the SMN1 gene. A highly homologous copy of this gene named SMN2 and other neighbouring genes, SERF1A and NAIP, are considered phenotypic modifiers of the disease. In recent years, notable advances have been made in SMA research regarding evaluation, prognosis, and therapeutic options. Thus, genotype-phenotype studies in SMA are important to stratify patients for motor function tests and for envisaged clinical trials. The aim of this study was to provide clinical and molecular data of a series of Argentinean children with SMA to establish a comprehensive genotype-phenotype correlation. METHODS: 144 Argentinean children with SMA (56 children with type I, 58 with type II, and 30 with type III) were evaluated. The copy number of SMN2, SERF1A, and NAIP genes was established using MLPA (Multiplex Ligation-dependent Probe Amplification) and then correlated with the patients clinical subtypes. To improve clinical characterization we considered the initial symptoms that prompted the consultation, age of acquisition of motor abilities to independent walking and age at loss of gait. We also evaluated clinical and molecular features of sibling pairs in seven families. RESULTS: A strong correlation was observed between the SMN2 copy number and SMA phenotype while SERF1A and NAIP copy number showed a moderate correlation. We observed intra- and inter-family differences among the SMA types. CONCLUSION: This first genotype-phenotype correlation study in Argentinean SMA children provides data to improve patient stratification and define more adequate follow-up parameters.
[Mh] Termos MeSH primário: Atrofias Musculares Espinais da Infância/genética
Proteína 1 de Sobrevivência do Neurônio Motor/genética
[Mh] Termos MeSH secundário: Adolescente
Idade de Início
Argentina
Criança
Pré-Escolar
Estudos de Coortes
Progressão da Doença
Feminino
Dosagem de Genes
Genótipo
Seres Humanos
Masculino
Proteínas do Tecido Nervoso/genética
Proteína Inibidora de Apoptose Neuronal/genética
Fenótipo
Estudos Retrospectivos
Atrofias Musculares Espinais da Infância/epidemiologia
Proteína 2 de Sobrevivência do Neurônio Motor/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (NAIP protein, human); 0 (Nerve Tissue Proteins); 0 (Neuronal Apoptosis-Inhibitory Protein); 0 (SERF1A protein, human); 0 (SMN1 protein, human); 0 (SMN2 protein, human); 0 (Survival of Motor Neuron 1 Protein); 0 (Survival of Motor Neuron 2 Protein)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160812
[St] Status:MEDLINE



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