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  1 / 1292 MEDLINE  
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[PMID]:29178656
[Au] Autor:Wada Y; Ohno S; Aiba T; Horie M
[Ad] Endereço:Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan.
[Ti] Título:Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
[So] Source:Mol Genet Genomic Med;5(6):639-651, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. METHODS AND RESULTS: We genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014. Seventy-five probands who fulfilled "definite" category according to the 2010 Task Force Criteria (TFC) were enrolled and followed up for 6.4 years. Sixty-four percent of probands had desmosomal mutations; DSG2 was predominant (48% of mutations) followed by PKP2 (38%). DSG2 mutations were almost missense, whereas over 90% of PKP2 mutations were truncating mutations. Lethal ventricular arrhythmias (VAs, sustained ventricular tachycardia/fibrillation) occurred in 57% of probands as the first manifestation and 71% at the end of follow-up. Five died during follow-up. Truncating mutation carriers exhibited earlier lethal VAs onset compared to missense mutation carriers or mutation negatives (age at onset 35 ± 12, 49 ± 16, and 50 ± 19 years, respectively, P < 0.05 in each). Cox proportional hazard analysis revealed for the first time that, compared to mutation negatives, truncating mutation carriers had higher risk for lethal VAs, and especially for onset by their 40s, in an age-dependent manner (RR = 4.6, P < 0.01 by their 40s; RR = 2.9, P = 0.01 by their 50s). CONCLUSION: The genetic background of Japanese ARVD/C probands is distinct from that of Caucasian probands, leading to distinct prognosis. The most affected gene mutations in Japanese probands were missense mutations in DSG2 leading to modest outcome, whereas PKP2 truncating mutations were the second most and might be a strong marker for lethal VAs in non-Caucasian Japanese ARVD/C probands.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita/genética
Grupo com Ancestrais do Continente Asiático/genética
[Mh] Termos MeSH secundário: Adulto
Displasia Arritmogênica Ventricular Direita/diagnóstico
Displasia Arritmogênica Ventricular Direita/mortalidade
Estudos de Coortes
Desmocolinas/genética
Desmogleína 2/genética
Desmoplaquinas/genética
Feminino
Seguimentos
Mutação da Fase de Leitura
Estudos de Associação Genética
Patrimônio Genético
Genótipo
Heterozigoto
Seres Humanos
Japão
Estimativa de Kaplan-Meier
Masculino
Meia-Idade
Mutação de Sentido Incorreto
Razão de Chances
Fenótipo
Placofilinas/genética
Modelos de Riscos Proporcionais
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DSC2 protein, human); 0 (Desmocollins); 0 (Desmoglein 2); 0 (Desmoplakins); 0 (Plakophilins)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.311


  2 / 1292 MEDLINE  
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[PMID]:29038103
[Au] Autor:Pilichou K; Lazzarini E; Rigato I; Celeghin R; De Bortoli M; Perazzolo Marra M; Cason M; Jongbloed J; Calore M; Rizzo S; Regazzo D; Poloni G; Iliceto S; Daliento L; Delise P; Corrado D; Van Tintelen JP; Thiene G; Rampazzo A; Basso C; Bauce B; Lorenzon A; Occhi G
[Ad] Endereço:From the Departments of Cardiac, Thoracic, and Vascular Sciences (K.P., E.L., I.R., R.C., M.P.M., M.C., S.R., S.I., L.D., D.C., G. T., C.B., B.B.) and Medicine (D.R.), University of Padua, Italy; Department of Biology, University of Padua, Italy (M.D.B., M.C., G.P., A.R., A.L., G.O.); University Med
[Ti] Título:Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.
[So] Source:Circ Arrhythm Electrophysiol;10(10), 2017 Oct.
[Is] ISSN:1941-3084
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome proteins. Conventional mutation screening is positive in ≈50% of probands. Copy number variations (CNVs) have recently been linked to AC pointing to the need to determine the prevalence of CNVs in desmosomal genes and to evaluate disease penetrance by cosegregation analysis in family members. METHODS AND RESULTS: A total of 160 AC genotype-negative probands for 5 AC desmosomal genes by conventional mutation screening underwent multiplex ligation-dependent probe amplification. Nine heterozygous CNVs were identified in 11 (6.9%) of the 160 probands. Five carried a deletion of the entire plakophilin-2 ( ) gene, 2 a deletion of only exon 4, 1 a deletion of the exons 6 to 11, 1 a duplication of 5' untranslated region till exon 1, 1 the desmocollin-2 ( ) duplication of exons 7 to 9, and 1 a large deletion of chromosome 18 comprising both and genes. All probands were affected by moderate-severe forms of the disease, whereas 10 (32%) of the 31 family members carrying one of these deletions fulfilled the diagnostic criteria. CONCLUSIONS: Genomic rearrangements were detected in ≈7% of AC probands negative for pathogenic point mutations in desmosomal genes, highlighting the potential of CNVs analysis to substantially increase the diagnostic yield of genetic testing. Genotype-phenotype correlation demonstrated the presence of the disease in about one third of family members carrying the CNV, underlying the role of other factors in the development and progression of the disease.
[Mh] Termos MeSH primário: Displasia Arritmogênica Ventricular Direita/genética
Desmossomos/genética
Rearranjo Gênico
[Mh] Termos MeSH secundário: Potenciais de Ação
Adolescente
Adulto
Idoso
Displasia Arritmogênica Ventricular Direita/diagnóstico
Displasia Arritmogênica Ventricular Direita/fisiopatologia
Variações do Número de Cópias de DNA
Análise Mutacional de DNA
Desmocolinas/genética
Desmogleína 2/genética
Desmoplaquinas/genética
Eletrocardiografia
Técnicas Eletrofisiológicas Cardíacas
Feminino
Deleção de Genes
Dosagem de Genes
Duplicação Gênica
Estudos de Associação Genética
Marcadores Genéticos
Predisposição Genética para Doença
Frequência Cardíaca
Hereditariedade
Seres Humanos
Itália
Masculino
Meia-Idade
Reação em Cadeia da Polimerase Multiplex
Linhagem
Fenótipo
Placofilinas/genética
Mutação Puntual
Fatores de Risco
Adulto Jovem
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DSC2 protein, human); 0 (DSG2 protein, human); 0 (DSP protein, human); 0 (Desmocollins); 0 (Desmoglein 2); 0 (Desmoplakins); 0 (Genetic Markers); 0 (JUP protein, human); 0 (PKP2 protein, human); 0 (Plakophilins); 0 (gamma Catenin)
[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:171018
[St] Status:MEDLINE


  3 / 1292 MEDLINE  
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[PMID]:28943339
[Au] Autor:Sun H; Wang X; Liu K; Guo M; Zhang Y; Ying QL; Ye S
[Ad] Endereço:Center for Stem Cell and Translational Medicine, School of Life Sciences, Anhui University, Hefei 230601, PR China.
[Ti] Título:ß-catenin coordinates with Jup and the TCF1/GATA6 axis to regulate human embryonic stem cell fate.
[So] Source:Dev Biol;431(2):272-281, 2017 11 15.
[Is] ISSN:1095-564X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ß-catenin-mediated signaling has been extensively studied in regard to its role in the regulation of human embryonic stem cells (hESCs). However, the results are controversial and the mechanism by which ß-catenin regulates the hESC fate remains unclear. Here, we report that ß-catenin and γ-catenin are functionally redundant in mediating hESC adhesion and are required for embryoid body formation, but both genes are dispensable for hESC maintenance, as the undifferentiated state of ß-catenin and γ-catenin double deficient hESCs can be maintained. Overexpression of ß-catenin induces rapid hESC differentiation. Functional assays revealed that TCF1 plays a crucial role in hESC differentiation mediated by ß-catenin. Forced expression of TCF1, but not other LEF1/TCF family members, resulted in hESC differentiation towards the definitive endoderm. Conversely, knockdown of TCF1 or inhibition of the interaction between TCF1 and ß-catenin delayed hESC exit from pluripotency. Furthermore, we demonstrated that GATA6 plays a predominant role in TCF1-mediated hESC differentiation. Knockdown of GATA6 completely eliminated the effect of TCF1, while forced expression of GATA6 induced hESC differentiation. Our data thus reveal more detailed mechanisms for ß-catenin in regulating hESC fate decisions and will expand our understanding of the self-renewal and differentiation circuitry in hESCs.
[Mh] Termos MeSH primário: Linhagem da Célula
Fator de Transcrição GATA6/metabolismo
Células-Tronco Embrionárias Humanas/citologia
Células-Tronco Embrionárias Humanas/metabolismo
Fator 1 de Ligação ao Facilitador Linfoide/metabolismo
Transdução de Sinais
beta Catenina/metabolismo
[Mh] Termos MeSH secundário: Adesão Celular
Diferenciação Celular
Autorrenovação Celular
Desmoplaquinas/metabolismo
Endoderma/citologia
Seres Humanos
Transcrição Genética
Regulação para Cima
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Desmoplakins); 0 (GATA6 Transcription Factor); 0 (JUP protein, human); 0 (LEF1 protein, human); 0 (Lymphoid Enhancer-Binding Factor 1); 0 (beta Catenin); 0 (gamma Catenin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170926
[St] Status:MEDLINE


  4 / 1292 MEDLINE  
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[PMID]:28687661
[Au] Autor:Hou J; Wang S; Jia M; Li D; Liu Y; Li Z; Zhu H; Xu H; Sun M; Lu L; Zhou Z; Peng H; Zhang Q; Fu S; Liang G; Yao L; Yu X; Carpp LN; Huang Y; McElrath J; Self S; Shao Y
[Ad] Endereço:State Key Laboratory of Infectious Disease Prevention and Control, National Center for AIDS/STD Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing 102206, China.
[Ti] Título:A Systems Vaccinology Approach Reveals Temporal Transcriptomic Changes of Immune Responses to the Yellow Fever 17D Vaccine.
[So] Source:J Immunol;199(4):1476-1489, 2017 Aug 15.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In this study, we used a systems vaccinology approach to identify temporal changes in immune response signatures to the yellow fever (YF)-17D vaccine, with the aim of comprehensively characterizing immune responses associated with protective immunity. We conducted a cohort study in which 21 healthy subjects in China were administered one dose of the YF-17D vaccine; PBMCs were collected at 0 h and then at 4 h and days 1, 2, 3, 5, 7, 14, 28, 84, and 168 postvaccination, and analyzed by transcriptional profiling and immunological assays. At 4 h postvaccination, genes associated with innate cell differentiation and cytokine pathways were dramatically downregulated, whereas receptor genes were upregulated, compared with their baseline levels at 0 h. Immune response pathways were primarily upregulated on days 5 and 7, accompanied by the upregulation of the transcriptional factors JUP, STAT1, and EIF2AK2. We also observed robust activation of innate immunity within 2 d postvaccination and a durable adaptive response, as assessed by transcriptional profiling. Coexpression network analysis indicated that lysosome activity and lymphocyte proliferation were associated with dendritic cell (DC) and CD4 T cell responses; FGL2, NFAM1, CCR1, and TNFSF13B were involved in these associations. Moreover, individuals who were baseline-seropositive for Abs against another flavivirus exhibited significantly impaired DC, NK cell, and T cell function in response to YF-17D vaccination. Overall, our findings indicate that YF-17D vaccination induces a prompt innate immune response and DC activation, a robust Ag-specific T cell response, and a persistent B cell/memory B cell response.
[Mh] Termos MeSH primário: Imunidade Adaptativa/genética
Perfilação da Expressão Gênica
Imunidade Inata/genética
Vacina contra Febre Amarela/imunologia
[Mh] Termos MeSH secundário: Adulto
Anticorpos Antivirais/sangue
Linfócitos B/imunologia
Linfócitos T CD4-Positivos/imunologia
Estudos de Coortes
Citocinas/genética
Citocinas/imunologia
Células Dendríticas/imunologia
Desmoplaquinas/genética
Desmoplaquinas/imunologia
Feminino
Regulação da Expressão Gênica
Seres Humanos
Memória Imunológica
Leucócitos Mononucleares/imunologia
Ativação Linfocitária
Masculino
Biologia de Sistemas/métodos
Vacinação
Febre Amarela/prevenção & controle
Vacina contra Febre Amarela/administração & dosagem
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Viral); 0 (Cytokines); 0 (Desmoplakins); 0 (JUP protein, human); 0 (Yellow Fever Vaccine); 0 (gamma Catenin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170709
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1700083


  5 / 1292 MEDLINE  
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[PMID]:28277619
[Au] Autor:Hütz K; Zeiler J; Sachs L; Ormanns S; Spindler V
[Ad] Endereço:Department I, Institute of Anatomy and Cell Biology, Ludwig-Maximilians-Universität Munich, Munich, Germany.
[Ti] Título:Loss of desmoglein 2 promotes tumorigenic behavior in pancreatic cancer cells.
[So] Source:Mol Carcinog;56(8):1884-1895, 2017 Aug.
[Is] ISSN:1098-2744
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The ability to maintain cell-cell adhesion is crucial for tissue integrity and organization. Accordingly, loss of cohesiveness plays a critical role in cancer invasion and metastasis. Desmosomes are cell junctions providing strong intercellular adhesive strength and dysregulation of desmosomal constituents contributes to cancer progression through altered cell signaling pathways. Here, we focused on the desmosomal adhesion molecules Desmoglein 2 (Dsg2) and Desmocollin 2 (Dsc2), and their contribution to migration and invasion in pancreatic cancer cells. Silencing of Dsg2 but not Dsc2 resulted in loss of cell cohesion and enhanced migration, and invasion of pancreatic adenocarcinoma cells. To identify potential pathways regulated by Dsg2, we performed kinase arrays and detected the activity of ERK and growth factor receptors to be significantly enhanced in Dsg2-deficient cells. Consequently, inhibition of ERK phosphorylation in Dsg2 knockdown cells normalized migration. Loss of Dsg2 resulted in reduced levels of the desmosomal adapter protein and transcriptional regulator Plakoglobin (PG) in an ERK-dependent manner, whereas other desmosomal molecules were not altered. Overexpression of PG rescued enhanced migration induced by silencing of Dsg2. These results identify a novel pro-migratory pathway of pancreatic cancer cells in which loss of Dsg2 reduces the levels of PG via deregulated MAPK signaling.
[Mh] Termos MeSH primário: Adenocarcinoma/genética
Adenocarcinoma/patologia
Desmogleína 2/genética
Inativação Gênica
Pâncreas/patologia
Neoplasias Pancreáticas/genética
Neoplasias Pancreáticas/patologia
[Mh] Termos MeSH secundário: Adenocarcinoma/metabolismo
Carcinogênese/genética
Carcinogênese/metabolismo
Carcinogênese/patologia
Adesão Celular
Linhagem Celular Tumoral
Movimento Celular
Proliferação Celular
Desmogleína 2/análise
Desmogleína 2/metabolismo
Desmoplaquinas/metabolismo
Regulação Neoplásica da Expressão Gênica
Seres Humanos
Sistema de Sinalização das MAP Quinases
Invasividade Neoplásica/genética
Invasividade Neoplásica/patologia
Pâncreas/metabolismo
Neoplasias Pancreáticas/metabolismo
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Desmoglein 2); 0 (Desmoplakins); 0 (JUP protein, human); 0 (gamma Catenin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170310
[St] Status:MEDLINE
[do] DOI:10.1002/mc.22644


  6 / 1292 MEDLINE  
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[PMID]:26303123
[Au] Autor:Tekin B; Yucelten D; Liu L; McGrath JA
[Ad] Endereço:Department of Dermatology, Marmara University School of Medicine, Istanbul, Turkey.
[Ti] Título:Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin.
[So] Source:Australas J Dermatol;58(1):e17-e19, 2017 Feb.
[Is] ISSN:1440-0960
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:Inherited mutations in desmosome genes can present with a spectrum of skin, hair and cardiac abnormalities. Here we describe a 4-year-old Turkish boy with a cardio-cutaneous syndrome resulting from compound heterozygous nonsense mutations in desmoplakin. Early recognition of such cases by clinical awareness of the dermatological features and molecular diagnostics can improve patient management through early cardiac support, although the risk of cardiomyopathy and arrhythmias poses a major health concern.
[Mh] Termos MeSH primário: Alopecia/genética
Doença de Darier/genética
Desmoplaquinas/genética
Ceratodermia Palmar e Plantar/genética
Dermatoses do Couro Cabeludo/genética
Dermatopatias Genéticas/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Códon sem Sentido
Heterozigoto
Seres Humanos
Lactente
Masculino
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); 0 (Desmoplakins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150826
[St] Status:MEDLINE
[do] DOI:10.1111/ajd.12385


  7 / 1292 MEDLINE  
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[PMID]:27931536
[Au] Autor:Nomura T; Kabashima K
[Ad] Endereço:Department of Dermatology, Graduate School of Medicine, Kyoto University, Kyoto, Japan; Department of Experimental Therapeutics, Institute for Advancement of Clinical and Translational Science (iACT), Kyoto University Hospital, Kyoto, Japan. Electronic address: tnomura@kuhp.kyoto-u.ac.jp.
[Ti] Título:Advances in atopic dermatitis in 2015.
[So] Source:J Allergy Clin Immunol;138(6):1548-1555, 2016 Dec.
[Is] ISSN:1097-6825
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This review aims to highlight recently published articles on atopic dermatitis (AD). Updated are the insights into epidemiology, pathology, diagnostics, and therapy. Epidemiologic studies have revealed a positive correlation between AD and systemic conditions, such as rheumatoid arthritis, inflammatory bowel disease, and neonatal adiposity. Pathologic findings highlight the involvement of novel barrier factors (desmoplakin and claudin), novel immune cell subsets (pathogenic effector T 2 cells and group 2 innate lymphoid cells), and differential skewing of helper T cells (eg, T 17 dominance in Asians with AD). As diagnostics, noninvasive examinations of the transepidermal water loss of neonates, the density of epidermal Staphylococcus species, and the gut flora might prognosticate the onset of AD. As for therapy, various methods are proposed, including conventional (petrolatum and UV) and molecule-oriented regimens targeting Janus kinase, signal transducer and activator of transcription 3, extracellular signal-regulated kinase, sirtuin 1, or aryl hydrocarbon receptor.
[Mh] Termos MeSH primário: Artrite Reumatoide/epidemiologia
Dermatite Atópica/epidemiologia
Doenças Inflamatórias Intestinais/epidemiologia
Obesidade/epidemiologia
Infecções Estafilocócicas/epidemiologia
Staphylococcus/fisiologia
Células Th2/imunologia
[Mh] Termos MeSH secundário: Animais
Claudinas/metabolismo
Dermatite Atópica/diagnóstico
Dermatite Atópica/tratamento farmacológico
Desmoplaquinas/metabolismo
Seres Humanos
Imunidade Inata
Recém-Nascido
Janus Quinases/metabolismo
Terapia de Alvo Molecular
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Claudins); 0 (Desmoplakins); EC 2.7.10.2 (Janus Kinases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161210
[St] Status:MEDLINE


  8 / 1292 MEDLINE  
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[PMID]:27698334
[Au] Autor:Foss-Nieradko B; Franaszczyk M; Spiewak M; Oreziak A; Ploski R; Bilinska ZT
[Ti] Título:Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.
[So] Source:Pol Arch Med Wewn;126(9):704-707, 2016 Sep 27.
[Is] ISSN:1897-9483
[Cp] País de publicação:Poland
[La] Idioma:eng
[Mh] Termos MeSH primário: Arritmias Cardíacas/complicações
Desmoplaquinas/genética
Mutação da Fase de Leitura
Predisposição Genética para Doença
Disfunção Ventricular/complicações
[Mh] Termos MeSH secundário: Adulto
Arritmias Cardíacas/genética
Arritmias Cardíacas/metabolismo
Análise Mutacional de DNA
Morte Súbita Cardíaca/etiologia
Seres Humanos
Masculino
Linhagem
Disfunção Ventricular/genética
Disfunção Ventricular/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DSP protein, human); 0 (Desmoplakins)
[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:161005
[St] Status:MEDLINE
[do] DOI:10.20452/pamw.3567


  9 / 1292 MEDLINE  
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[PMID]:27570562
[Au] Autor:Jin Y; Yao Y; Chen L; Zhu X; Jin B; Shen Y; Li J; Du X; Lu Y; Jiang S; Pan J
[Ad] Endereço:Jinan University Institute of Tumor Pharmacology, Jinan University College of Pharmacy; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China;
[Ti] Título:Depletion of γ-catenin by Histone Deacetylase Inhibition Confers Elimination of CML Stem Cells in Combination with Imatinib.
[So] Source:Theranostics;6(11):1947-62, 2016.
[Is] ISSN:1838-7640
[Cp] País de publicação:Australia
[La] Idioma:eng
[Ab] Resumo:Quiescent leukemia stem cells (LSCs) that are insensitive to BCR-ABL tyrosine kinase inhibitors confer resistance to imatinib in chronic myelogenous leukemia (CML). Identifying proteins to regulate survival and stemness of LSCs is urgently needed. Although histone deacetylase inhibitors (HDACis) can eliminate quiescent LSCs in CML, little is known about the underlying mechanism that HDACis kill LSCs. By fishing with a biotin-labeled probe, we identified that HDACi JSL-1 bound to the protein γ-catenin. γ-Catenin expression was higher in LSCs from CML patients than normal hematopoietic stem cells. Silencing γ-catenin in human CML CD34(+) bone-marrow (BM) cells sufficiently eliminated LSCs, which suggests that γ-catenin is required for survival of CML LSCs. Pharmacological inhibition of γ-catenin thwarted survival and self-renewal of human CML CD34(+) cells in vitro, and of murine LSCs in BCR-ABL-driven CML mice. γ-Catenin inhibition reduced long-term engraftment of human CML CD34(+) cells in NOD.Cg-Prkdc (scid) II2rg (tm1Sug)/JicCrl (NOG) mice. Silencing γ-catenin by shRNA in human primary CD34(+) cells did not alter ß-catenin, implying a ß-catenin-independent role of γ-catenin in survival and self-renewal of CML LSCs. Taken together, our findings validate that γ-catenin may be a novel therapeutic target of LSCs, and suppression of γ-catenin by HDACi may explain elimination of CML LSCs.
[Mh] Termos MeSH primário: Antineoplásicos/administração & dosagem
Desmoplaquinas/antagonistas & inibidores
Inibidores de Histona Desacetilases/administração & dosagem
Mesilato de Imatinib/administração & dosagem
Leucemia Mielogênica Crônica BCR-ABL Positiva/tratamento farmacológico
Células-Tronco Neoplásicas/efeitos dos fármacos
[Mh] Termos MeSH secundário: Animais
Sobrevivência Celular/efeitos dos fármacos
Modelos Animais de Doenças
Xenoenxertos
Seres Humanos
Camundongos
Resultado do Tratamento
Células Tumorais Cultivadas
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Desmoplakins); 0 (Histone Deacetylase Inhibitors); 0 (JUP protein, human); 0 (gamma Catenin); 8A1O1M485B (Imatinib Mesylate)
[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:160830
[St] Status:MEDLINE
[do] DOI:10.7150/thno.16139


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[PMID]:27501241
[Au] Autor:Sawant S; Dongre H; Singh AK; Joshi S; Costea DE; Mahadik S; Ahire C; Makani V; Dange P; Sharma S; Chaukar D; Vaidya M
[Ad] Endereço:Vaidya Laboratory, Advanced Centre for Treatment, Research and Education in Cancer (ACTREC), Tata Memorial Centre, Kharghar, Navi Mumbai, Maharashtra, India.
[Ti] Título:Establishment of 3D Co-Culture Models from Different Stages of Human Tongue Tumorigenesis: Utility in Understanding Neoplastic Progression.
[So] Source:PLoS One;11(8):e0160615, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:To study multistep tumorigenesis process, there is a need of in-vitro 3D model simulating in-vivo tissue. Present study aimed to reconstitute in-vitro tissue models comprising various stages of neoplastic progression of tongue tumorigenesis and to evaluate the utility of these models to investigate the role of stromal fibroblasts in maintenance of desmosomal anchoring junctions using transmission electron microscopy. We reconstituted in-vitro models representing normal, dysplastic, and malignant tissues by seeding primary keratinocytes on either fibroblast embedded in collagen matrix or plain collagen matrix in growth factor-free medium. The findings of histomorphometry, immunohistochemistry, and electron microscopy analyses of the three types of 3D cultures showed that the stratified growth, cell proliferation, and differentiation were comparable between co-cultures and their respective native tissues; however, they largely differed in cultures grown without fibroblasts. The immunostaining intensity of proteins, viz., desmoplakin, desmoglein, and plakoglobin, was reduced as the disease stage increased in all co-cultures as observed in respective native tissues. Desmosome-like structures were identified using immunogold labeling in these cultures. Moreover, electron microscopic observations revealed that the desmosome number and their length were significantly reduced and intercellular spaces were increased in cultures grown without fibroblasts when compared with their co-culture counterparts. Our results showed that the major steps of tongue tumorigenesis can be reproduced in-vitro. Stromal fibroblasts play a role in regulation of epithelial thickness, cell proliferation, differentiation, and maintenance of desmosomalanchoring junctions in in-vitro grown tissues. The reconstituted co-culture models could help to answer various biological questions especially related to tongue tumorigenesis.
[Mh] Termos MeSH primário: Técnicas de Cocultura/métodos
Neoplasias da Língua/patologia
[Mh] Termos MeSH secundário: Diferenciação Celular
Proliferação Celular
Transformação Celular Neoplásica
Desmogleínas/metabolismo
Desmoplaquinas/metabolismo
Desmossomos/metabolismo
Desmossomos/ultraestrutura
Fibroblastos/patologia
Seres Humanos
Queratinócitos/patologia
Língua/patologia
gama Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DSP protein, human); 0 (Desmogleins); 0 (Desmoplakins); 0 (JUP protein, human); 0 (gamma Catenin)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160809
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0160615



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