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  1 / 12927 MEDLINE  
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[PMID]:28453676
[Au] Autor:Qian Y; Butler TJ; Opsahl-Ong K; Giroux NS; Sidore C; Nagaraja R; Cucca F; Ferrucci L; Abecasis GR; Schlessinger D; Ding J
[Ad] Endereço:Laboratory of Genetics and Genomics, National Institute on Aging, NIH, Baltimore, MD, USA.
[Ti] Título:fastMitoCalc: an ultra-fast program to estimate mitochondrial DNA copy number from whole-genome sequences.
[So] Source:Bioinformatics;33(9):1399-1401, 2017 May 01.
[Is] ISSN:1367-4811
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Availability and Implementation: fastMitoCalc is available at https://lgsun.irp.nia.nih.gov/hsgu/software/mitoAnalyzer/index.html. Contact: jun.ding@nih.gov. Supplementary information: Supplementary data are available at Bioinformatics online.
[Mh] Termos MeSH primário: Dosagem de Genes
Genoma Mitocondrial
Genômica/métodos
Análise de Sequência de DNA/métodos
Software
[Mh] Termos MeSH secundário: Genoma Humano
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1093/bioinformatics/btw835


  2 / 12927 MEDLINE  
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[PMID]:28465355
[Au] Autor:Lan L; Guo M; Ai Y; Chen F; Zhang Y; Xia L; Huang D; Niu L; Zheng Y; Suzuki CK; Zhang Y; Liu Y; Lu B
[Ad] Endereço:Department of Biochemistry, Institute of Biophysics, Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China.
[Ti] Título:Tetramethylpyrazine blocks TFAM degradation and up-regulates mitochondrial DNA copy number by interacting with TFAM.
[So] Source:Biosci Rep;37(3), 2017 Jun 30.
[Is] ISSN:1573-4935
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The natural small molecule compound: 2,3,5,6-tetramethylpyrazine (TMP), is a major component of the Chinese medicine , which has wide clinical applications in dilating blood vessels, inhibiting platelet aggregation and treating thrombosis. Recent work suggests that TMP is also an antitumour agent. Despite its chemotherapeutic potential, the mechanism(s) underlying TMP action are unknown. Herein, we demonstrate that TMP binds to mitochondrial transcription factor A (TFAM) and blocks its degradation by the mitochondrial Lon protease. TFAM is a key regulator of mtDNA replication, transcription and transmission. Our previous work showed that when TFAM is not bound to DNA, it is rapidly degraded by the ATP-dependent Lon protease, which is essential for mitochondrial proteostasis. In cultured cells, TMP specifically blocks Lon-mediated degradation of TFAM, leading to TFAM accumulation and subsequent up-regulation of mtDNA content in cells with substantially low levels of mtDNA. protease assays show that TMP does not directly inhibit mitochondrial Lon, rather interacts with TFAM and blocks degradation. Pull-down assays show that biotinylated TMP interacts with TFAM. These findings suggest a novel mechanism whereby TMP stabilizes TFAM and confers resistance to Lon-mediated degradation, thereby promoting mtDNA up-regulation in cells with low mtDNA content.
[Mh] Termos MeSH primário: DNA Mitocondrial/efeitos dos fármacos
Proteínas de Ligação a DNA/genética
Dosagem de Genes/efeitos dos fármacos
Mitocôndrias/efeitos dos fármacos
Proteínas Mitocondriais/genética
Pirazinas/farmacologia
Fatores de Transcrição/genética
Regulação para Cima/efeitos dos fármacos
[Mh] Termos MeSH secundário: Linhagem Celular Tumoral
Replicação do DNA/efeitos dos fármacos
Células HCT116
Células HeLa
Seres Humanos
Peptídeo Hidrolases/genética
Transcrição Genética/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Mitochondrial); 0 (DNA-Binding Proteins); 0 (Mitochondrial Proteins); 0 (Pyrazines); 0 (TFAM protein, human); 0 (Transcription Factors); EC 3.4.- (Peptide Hydrolases); V80F4IA5XG (tetramethylpyrazine)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180227
[Lr] Data última revisão:
180227
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE


  3 / 12927 MEDLINE  
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[PMID]:27771279
[Au] Autor:Miyamoto DT; Lee RJ
[Ad] Endereço:Massachusetts General Hospital Cancer Center, Boston, MA; Department of Radiation Oncology, Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA. Electronic address: dmiyamoto@mgh.harvard.edu.
[Ti] Título:Cell-free and circulating tumor cell-based biomarkers in men with metastatic prostate cancer: Tools for real-time precision medicine?
[So] Source:Urol Oncol;34(11):490-501, 2016 11.
[Is] ISSN:1873-2496
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The recent expansion of therapeutic options for the treatment of metastatic prostate cancer highlights the need for precision medicine approaches to enable the rational selection of appropriate therapies for individual patients. In this context, circulating biomarkers in the peripheral blood are attractive as readily accessible tools for predicting and monitoring therapeutic response. In the case of circulating tumor cells and circulating tumor DNA, they may also serve as a noninvasive means of assessing molecular aberrations in tumors at multiple time points before and during therapy. These so-called "liquid biopsies" can provide a snapshot view of tumor molecular architecture and may enable clinicians to monitor the molecular status of tumors as they evolve during treatment, thus allowing for individualized precision therapeutic decisions for patients over time. In this review, we outline recent progress in the field of circulating biomarkers in metastatic prostate cancer and evaluate their potential for enabling this vision of real-time precision medicine.
[Mh] Termos MeSH primário: Adenocarcinoma/secundário
Biomarcadores Tumorais/sangue
DNA de Neoplasias/sangue
Células Neoplásicas Circulantes/química
Medicina de Precisão/métodos
Neoplasias da Próstata/sangue
[Mh] Termos MeSH secundário: Adenocarcinoma/sangue
Adenocarcinoma/tratamento farmacológico
Adenocarcinoma/genética
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico
Ensaios Clínicos como Assunto
Sistemas de Computação
Dosagem de Genes
Seres Humanos
Masculino
Estudos Multicêntricos como Assunto
Mutação
Proteínas de Neoplasias/sangue
Proteínas de Neoplasias/genética
Medicina de Precisão/tendências
Prognóstico
Neoplasias da Próstata/tratamento farmacológico
Neoplasias da Próstata/genética
Receptores Androgênicos/sangue
Receptores Androgênicos/genética
Análise de Célula Única
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T; RESEARCH SUPPORT, U.S. GOV'T, NON-P.H.S.
[Nm] Nome de substância:
0 (AR protein, human); 0 (Biomarkers, Tumor); 0 (DNA, Neoplasm); 0 (Neoplasm Proteins); 0 (Receptors, Androgen)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180228
[Lr] Data última revisão:
180228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161106
[St] Status:MEDLINE


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[PMID]:29385171
[Au] Autor:Aguayo A; Martin CS; Huddy TF; Ogawa-Okada M; Adkins JL; Steele AD
[Ad] Endereço:Department of Biological Sciences, California State Polytechnic University Pomona, Pomona, CA, United States of America.
[Ti] Título:Sex differences in circadian food anticipatory activity are not altered by individual manipulations of sex hormones or sex chromosome copy number in mice.
[So] Source:PLoS One;13(1):e0191373, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Recent studies in mice have demonstrated a sexual dimorphism in circadian entrainment to scheduled feeding. On a time restricted diet, males tend to develop food anticipatory activity (FAA) sooner than females and with a higher amplitude of activity. The underlying cause of this sex difference remains unknown. One study suggests that sex hormones, both androgens and estrogens, modulate food anticipatory activity in mice. Here we present results suggesting that the sex difference in FAA is unrelated to gonadal sex hormones. While a sex difference between males and females in FAA on a timed, calorie restricted diet was observed there were no differences between intact and gonadectomized mice in the onset or magnitude of FAA. To test other sources of the sex difference in circadian entrainment to scheduled feeding, we used sex chromosome copy number mutants, but there was no difference in FAA when comparing XX, XY-, XY-;Sry Tg, and XX;Sry Tg mice, demonstrating that gene dosage of sex chromosomes does not mediate the sex difference in FAA. Next, we masculinized female mice by treating them with 17-beta estradiol during the neonatal period; yet again, we saw no difference in FAA between control and masculinized females. Finally, we observed that there was no longer a sex difference in FAA for older mice, suggesting that the sex difference in FAA is age-dependent. Thus, our study demonstrates that singular manipulations of gonadal hormones, sex chromosomes, or developmental patterning are not able to explain the difference in FAA between young male and female mice.
[Mh] Termos MeSH primário: Antecipação Psicológica/fisiologia
Ritmo Circadiano/efeitos dos fármacos
Ritmo Circadiano/genética
Alimentos
Hormônios Esteroides Gonadais/farmacologia
Caracteres Sexuais
Cromossomos Sexuais/genética
[Mh] Termos MeSH secundário: Animais
Antecipação Psicológica/efeitos dos fármacos
Estradiol/farmacologia
Feminino
Dosagem de Genes
Masculino
Camundongos
Camundongos Endogâmicos C57BL
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Gonadal Steroid Hormones); 4TI98Z838E (Estradiol)
[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:180201
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191373


  5 / 12927 MEDLINE  
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[PMID]:29220592
[Au] Autor:Xu WY; Li YJ; Fan C
[Ad] Endereço:a College of Veterinary Medicine, Northeast Agricultural University, Harbin, People's Republic of China.
[Ti] Título:Different loci and mRNA copy number of the increased serum survival gene of Escherichia coli.
[So] Source:Can J Microbiol;64(2):147-154, 2018 Feb.
[Is] ISSN:1480-3275
[Cp] País de publicação:Canada
[La] Idioma:eng
[Ab] Resumo:The increased serum survival gene (iss) has been identified as a virulence trait associated with the virulence of Escherichia coli, causing colibacillosis in poultry. However, it remains unclear as to whether iss mRNA copy number and sequence affect virulence. To examine these influences, we assessed the presence of iss, sequence analysis, iss mRNA copy number, and serum resistance. The iss gene was detected in 88 (all) E. coli isolates from different sources, and sequencing identified 16 alleles (32 different loci) and 10 amino acid sequences (10 different loci). Nested polymerase chain reaction improved iss detection. The isolates from sick chickens had >68% livability in serum resistance tests and higher iss mRNA copy number. The iss mRNA copy number highly correlated with mortality and E. coli livability. Student's t tests confirmed the relationship between the different loci to iss transcription, serum resistance, and virulence. These data suggest that iss mRNA copy number and different loci affect the virulence and serum resistance. These findings could be useful in further studies on the prevalence of iss among E. coli isolates and other virulence factors.
[Mh] Termos MeSH primário: Infecções por Escherichia coli/veterinária
Proteínas de Escherichia coli/genética
Escherichia coli/genética
Escherichia coli/patogenicidade
Doenças das Aves Domésticas/microbiologia
RNA Mensageiro/genética
Virulência/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Galinhas
Infecções por Escherichia coli/microbiologia
Infecções por Escherichia coli/mortalidade
Dosagem de Genes
Reação em Cadeia da Polimerase
Aves Domésticas
Doenças das Aves Domésticas/mortalidade
Fatores de Virulência/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Escherichia coli Proteins); 0 (Iss protein, E coli); 0 (RNA, Messenger); 0 (Virulence Factors)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE
[do] DOI:10.1139/cjm-2017-0363


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[PMID]:29351293
[Au] Autor:Monico J; Miller B; Rezeanu L; May W; Sullivan DC
[Ad] Endereço:Department of Pathology, University of Mississippi Medical Center, Jackson, Mississippi, United States of America.
[Ti] Título:Fibroblast growth factor receptor 1 amplification in laryngeal squamous cell carcinoma.
[So] Source:PLoS One;13(1):e0186185, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Fibroblast growth factor receptor 1 (FGFR1) has been noted to be amplified in a variety of squamous cell carcinomas (SCCa) of the head, neck, and lung and increased copy number (CN) is a predictor of poor outcomes. FGFR1 is a therapeutic target for lung SCCa and inhibition therapy is currently in clinical trials. Absolute quantification of FGFR1 from formalin fixed paraffin embedded (FFPE) tissue of laryngeal SCCa was examined in this retrospective study. A droplet digital polymerase chain reaction (ddPCR) was used for absolute quantitation of the FGFR1 gene CN. Of the 74 samples analyzed, FGFR1 CN analysis revealed 54% of samples had CN greater than 2 copies/cell (1.8-2.2 copies/cell), and 38% had CN values greater than 3. The mean and standard deviation FGFR1 CN was 4.17 ± 1.46 CN for African American patients (n = 41) and 3.78 ±1.85 CN for Caucasian patients (n = 31). Further, 60.9% of specimens from African Americans demonstrated increased FGFR1 CN compared to 48.4% of Caucasians. Two SCCA samples from Native American demonstrated increased FGFR1 CN (4.19 and 3.01 CN). The level of FGFR1 amplification did not correlate with tumor stage, lymph node staging, or metastasis. In this population, the proportion of patient samples with an FGFR1 amplification was three times higher than in reported for SCCA of the head and neck. Further, increased FGFR1 CN was observed in two racial groups not previously reported: African Americans and Native Americans. However, FGFR1 amplification is not prognostic in laryngeal squamous cell carcinomas.
[Mh] Termos MeSH primário: Carcinoma de Células Escamosas/genética
Neoplasias Laríngeas/genética
Reação em Cadeia da Polimerase/métodos
Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética
[Mh] Termos MeSH secundário: Afroamericanos
Carcinoma de Células Escamosas/patologia
Interpretação Estatística de Dados
Grupo com Ancestrais do Continente Europeu
Feminino
Dosagem de Genes
Seres Humanos
Neoplasias Laríngeas/patologia
Masculino
Análise de Sobrevida
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.10.1 (FGFR1 protein, human); EC 2.7.10.1 (Receptor, Fibroblast Growth Factor, Type 1)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180120
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0186185


  7 / 12927 MEDLINE  
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[PMID]:29217198
[Au] Autor:Maalej M; Tej A; Bouguila J; Tilouche S; Majdoub S; Khabou B; Tabbebi M; Felhi R; Ammar M; Mkaouar-Rebai E; Keskes L; Boughamoura L; Fakhfakh F
[Ad] Endereço:Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, University of Sfax, Tunisia; Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, University of Sfax, Tunisia. Electronic address: marwamaalej7@gmail.com.
[Ti] Título:Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
[So] Source:Biochem Biophys Res Commun;495(2):1730-1737, 2018 01 08.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (ß subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c.41T > C in the exon 1 at homozygous state. In-silico analysis revealed that this mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. Moreover, these analysis predicted that this mutation alter stability structure and mitochondrial translocation of the protein. In Addition, a decrease in mtDNA copy number was revealed by real time PCR in the peripheral blood leukocytes in the two patients compared with controls.
[Mh] Termos MeSH primário: Encefalomiopatias Mitocondriais/enzimologia
Encefalomiopatias Mitocondriais/genética
Mutação de Sentido Incorreto
Succinato-CoA Ligases/deficiência
Succinato-CoA Ligases/genética
[Mh] Termos MeSH secundário: Acidose Láctica/genética
Erros Inatos do Metabolismo dos Aminoácidos/genética
Substituição de Aminoácidos
Pré-Escolar
Consanguinidade
DNA Mitocondrial/genética
Estabilidade Enzimática/genética
Feminino
Dosagem de Genes
Perda Auditiva/genética
Homozigoto
Seres Humanos
Lactente
Masculino
Hipotonia Muscular/genética
Succinato-CoA Ligases/química
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial); EC 6.2.1.- (SUCLG1 protein, human); EC 6.2.1.- (Succinate-CoA Ligases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180212
[Lr] Data última revisão:
180212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


  8 / 12927 MEDLINE  
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[PMID]:29325733
[Au] Autor:Zhang GM; Zheng L; He H; Song CC; Zhang ZJ; Cao XK; Lei CZ; Lan XY; Qi XL; Chen H; Huang YZ
[Ad] Endereço:College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi 712100, PR China.
[Ti] Título:Associations of GBP2 gene copy number variations with growth traits and transcriptional expression in Chinese cattle.
[So] Source:Gene;647:101-106, 2018 Mar 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Copy number variations (CNVs) recently have been recognized as another important genetic variability followed single nucleotide polymorphisms (SNPs). The guanylate binding protein 2 (GBP2) gene plays an important role in cell proliferation. This study was performed to determine the presence of GBP2 CNV (relative to Angus cattle) in 466 individuals representing six main cattle breeds from China, identify its relationship with growth, and explore the biological effects of gene expression. There were two CNV regions in the GBP2 gene, for three types, CNV1 loss type (relative to Angus cattle) was more frequent in XN than other breeds, and CNV2 loss type (relative to Angus cattle) was more frequent in XN and CDM than other breeds. Though the GBP2 gene copy number presented no correlation with the transcriptional expression of JX (P > .05), but the transcriptional expression in heart is higher than other tissues, and the copy number in muscles and fat of JX is higher than others breeds. Statistical analysis revealed that the GBP2 gene CNV1 and CNV2 were significantly associated with growth traits (P < .05). In conclusion, this research established the correlations between CNVs of GBP2 gene and growth traits in different cattle breeds, and our results suggested that the CNVs in GBP2 gene may be considered markers for the molecular breeding of Chinese beef cattle.
[Mh] Termos MeSH primário: Variações do Número de Cópias de DNA/genética
Proteínas de Ligação ao GTP/genética
Dosagem de Genes/genética
Locos de Características Quantitativas/genética
[Mh] Termos MeSH secundário: Animais
Cruzamento/métodos
Bovinos
China
Expressão Gênica/genética
Fenótipo
Polimorfismo de Nucleotídeo Único/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.1.- (GTP-Binding Proteins)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180209
[Lr] Data última revisão:
180209
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180113
[St] Status:MEDLINE


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[PMID]:29369566
[Au] Autor:Lopatkina ME; Kashevarova AA; Lebedev IN
[Ti] Título:[Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability].
[So] Source:Genetika;52(9):1109-12, 2016 Sep.
[Is] ISSN:0016-6758
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:Analysis of the prevalence of copy number variations of the CNTN6 gene, recently selected as a new candidate gene for intellectual disorders, was performed. Real-time PCR did not detect any change in the number of CNTN6 gene copies in a group of 200 patients with impaired intellectual development. However, taking into account our data from the previous aCGH analysis and published data, the overall frequency of microdeletions and microduplications of CNTN6 was estimated as 1: 265 (0.4%). The common phenotypic features of 40 patients with microdeletions and microduplications of CNTN6 appeared to be the autism spectrum disorders, developmental delay, intellectual disability, seizures, cognitive impairment, cardiological defects, and behavioral problems.
[Mh] Termos MeSH primário: Contactinas/genética
Dosagem de Genes
Mutação INDEL
Deficiência Intelectual/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Criança
Pré-Escolar
Feminino
Seres Humanos
Deficiência Intelectual/fisiopatologia
Masculino
Meia-Idade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CNTN6 protein, human); 0 (Contactins)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE


  10 / 12927 MEDLINE  
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[PMID]:29325248
[Au] Autor:Yin WJ; Zhu X; Yang HY; Sun WY; Wu MJ
[Ad] Endereço:Department of Pathology, Zhejiang Cancer Hospital, Hangzhou 310022, China.
[Ti] Título:[Survival of patients with primary central nervous system diffuse large B-cell lymphoma: impact of gene aberrations and protein overexpression of bcl-2 and C-MYC, and selection of chemotherapy regimens].
[So] Source:Zhonghua Bing Li Xue Za Zhi;47(1):32-38, 2018 Jan 08.
[Is] ISSN:0529-5807
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To investigate the impact of clinicopathological features, gene rearrangements and protein expression of bcl-6, bcl-2, C-MYC and chemotherapy regime on the prognosis of patients with primary central nervous system diffuse large B-cell lymphoma (PCNS-DLBCL). Thirty-three cases of PCNS-DLBCL diagnosed from January 2006 to December 2016 at Zhejiang Cancer Hospital were collected. The expression of CD10, bcl-6, bcl-2, MUM1 and MYC were detected by immunohistochemical staining (IHC). The presence of EB virus was detected by in situ hybridization(EBER). Copy number variation (ICN) and translocation status of bcl-6, bcl-2 and C-MYC genes were detected by fluorescence in situ hybridization (FISH). The relationship between the above indexes and the prognosis was analyzed by univariate, bivariate survival analysis and multiple Cox hazard regression analysis. The study included 33 patients of PCNS-DLBCL, without evidence of primary or secondary immunodeficient disease. Male to female ratio was 1.36∶1.00, and the average age was 56 years. Twenty cases had single lesion while 13 had multiple lesions. Deep brain involvement was seen in 12 cases. All patients underwent partial or total tumor resection. Five patients received whole brain post-surgery radiotherapy, nine patients received high-dose methotrexate (HD-MTX) based chemotherapy, and 12 patients received whole-brain radiotherapy combined with HD-MTX based chemotherapy. Severn patients received no further treatment and rituximab was used in 8 patients. According to the Hans model, 27 cases were classified as non-GCB subtypes (81.8%). Bcl-2 was positive in 25 cases (75.8%, 25/33) and highly expressed in 8 (24.2%). MYC was positive in 12 cases (36.4%) and double expression of bcl-2 and MYC was seen in 6 cases. EBER positive rate was 10.0%(3/30), all of which had multiple lesions. Two bcl-6 gene translocations and 3 amplifications were found in 28 patients. Two translocations, 3 ICN or with both bcl-2 gene translocation and ICN were found in 30 patients. Four ICNs of C-MYC gene were found in 28 patients. Elevated protein in cerebrospinal fluid (CSF) was found in 13 patients. LDH increased in 10 cases. Follow-up period was 2-90 months with the average survival time of (23.0±3.7) months and two-year survival rate of 39.0%. Univariate survival analysis showed that overexpression of bcl-2 protein (≥70%) and MYC protein (≥40%), bcl-2 gene abnormality (including copy number increase and translocation), C-MYC gene copy number increased were adverse factors for survival. C-MYC/ bcl-2 gene double hit was seen in 2 cases. Bivariate survival analysis found that of bcl-2/MYC protein double expression and bcl-2 and C-MYC genes double aberration were significantly associated with adverse outcomes. Cox multivariate risk regression analysis found that gender, cerebrospinal fluid protein increasing, and ICN of C-MYC gene were independent poor prognostic factors. DH-MTX based comprehensive chemotherapy was associated with better prognosis. Double hit at genomic level (copy number variations and gene rearrangements) and double protein expression of bcl-2 and C-MYC in PCNS-DLBCL are significantly associated with an adverse outcome. DH-MTX based comprehensive treatment may prolong the patient survival.
[Mh] Termos MeSH primário: Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico
Neoplasias do Sistema Nervoso Central/mortalidade
Rearranjo Gênico
Linfoma Difuso de Grandes Células B/mortalidade
Proteínas Proto-Oncogênicas c-bcl-2/metabolismo
Proteínas Proto-Oncogênicas c-myc/metabolismo
[Mh] Termos MeSH secundário: Antimetabólitos Antineoplásicos/uso terapêutico
Neoplasias Encefálicas/metabolismo
Neoplasias Encefálicas/mortalidade
Neoplasias Encefálicas/patologia
Neoplasias Encefálicas/terapia
Neoplasias do Sistema Nervoso Central/genética
Neoplasias do Sistema Nervoso Central/metabolismo
Neoplasias do Sistema Nervoso Central/terapia
Variações do Número de Cópias de DNA
Feminino
Dosagem de Genes
Genes bcl-2
Genes myc
Herpesvirus Humano 4/isolamento & purificação
Seres Humanos
Hibridização in Situ Fluorescente
Fatores Reguladores de Interferon/metabolismo
Linfoma Difuso de Grandes Células B/genética
Linfoma Difuso de Grandes Células B/metabolismo
Linfoma Difuso de Grandes Células B/terapia
Masculino
Metotrexato/uso terapêutico
Meia-Idade
Neprilisina/metabolismo
Prognóstico
Proteínas Proto-Oncogênicas c-bcl-6/genética
Proteínas Proto-Oncogênicas c-bcl-6/metabolismo
Análise de Sobrevida
Taxa de Sobrevida
Translocação Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antimetabolites, Antineoplastic); 0 (BCL2 protein, human); 0 (Interferon Regulatory Factors); 0 (Proto-Oncogene Proteins c-bcl-2); 0 (Proto-Oncogene Proteins c-bcl-6); 0 (Proto-Oncogene Proteins c-myc); 0 (interferon regulatory factor-4); EC 3.4.24.11 (Neprilysin); YL5FZ2Y5U1 (Methotrexate)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180202
[Lr] Data última revisão:
180202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180112
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0529-5807.2018.01.007



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