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  1 / 2702 MEDLINE  
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[PMID]:29372788
[Au] Autor:Zhirnov IV; Trifonova EA; Romanova AV; Filipenko EA; Sapotsky MV; Malinovsky VI; Kochetov AV; Shumny VK
[Ti] Título:[Induced expression of Serratia marcescens ribonuclease III gene in transgenic Nicotiana tabacum L. cv. SR1 tobacco plants].
[So] Source:Genetika;52(11):1256-61, 2016 Nov.
[Is] ISSN:0016-6758
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:Transgenic Nicotiana tabacum L. cv. SR1 plants, characterized by an increase in the level of dsRNA-specific hydrolytic activity after induction by wounding, were obtained. The Solanum lycopersicum anionic peroxidase gene promoter (new for plant genetic engineering) was for the first time used for the induced expression of the target Serratia marcescens RNase III gene. Upon infection with the tobacco mosaic virus (TMV), the transgenic plants of the obtained lines did not differ significantly from the control group in the level of TMV capsid protein accumulation. In general, no delay in the development of the infection symptoms was observed in transgenic plants as compared with the control group. The obtained transgenic plants represent a new model for the study of the biological role of endoribonucleases from the RNase III family, including in molecular mechanisms of resistance to pathogens.
[Mh] Termos MeSH primário: Proteínas de Bactérias
Genes Bacterianos
Plantas Geneticamente Modificadas
Ribonuclease III
Serratia marcescens/genética
Tabaco
[Mh] Termos MeSH secundário: Proteínas de Bactérias/biossíntese
Proteínas de Bactérias/genética
Resistência à Doença
Plantas Geneticamente Modificadas/enzimologia
Plantas Geneticamente Modificadas/genética
Ribonuclease III/biossíntese
Ribonuclease III/genética
Serratia marcescens/enzimologia
Tabaco/enzimologia
Tabaco/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bacterial Proteins); EC 3.1.26.3 (Ribonuclease III)
[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:180127
[St] Status:MEDLINE


  2 / 2702 MEDLINE  
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[PMID]:29187512
[Au] Autor:Apellaniz-Ruiz M; de Kock L; Sabbaghian N; Guaraldi F; Ghizzoni L; Beccuti G; Foulkes WD
[Ad] Endereço:Lady Davis InstituteSegal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.
[Ti] Título:Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame deletion.
[So] Source:Eur J Endocrinol;178(2):K11-K19, 2018 Feb.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Familial multinodular goiter (MNG), with or without ovarian Sertoli-Leydig cell tumor (SLCT), has been linked to DICER1 syndrome. We aimed to search for the presence of a germline mutation in a large family with a remarkable history of MNG and SLCT, and to further explore the relevance of the identified mutation. DESIGN AND METHODS: Sanger sequencing, Fluidigm Access Array and multiplex ligation-dependent probe amplification (MLPA) techniques were used to screen for mutations in germline DNA from 16 family members. Where available, tumor DNA was also studied. mRNA and protein extracted from carriers' lymphocytes were used to characterize the expression of the mutant DICER1. RESULTS: Nine of 16 tested individuals carried a germline, in-frame deletion (c.4207-41_5364+1034del), which resulted in the loss of exons 23 and 24 from the cDNA. The mutant transcript does not undergo nonsense-mediated decay and the protein is devoid of specific metal ion-binding amino acids (p.E1705 and p.D1709) in the RNase IIIb domain. In addition, characteristic somatic 'second hit' mutations in this region were found on the other allele in tumors. CONCLUSIONS: Patients with DICER1 syndrome usually present a combination of a typically truncating germline mutation and a tumor-specific hotspot missense mutation within the sequence encoding the RNase IIIb domain. The in-frame deletion found in this family suggests that the germline absence of p.E1705 and p.D1709, which are crucial for RNase IIIb activity, may be enough to permit DICER1 syndrome to occur.
[Mh] Termos MeSH primário: RNA Helicases DEAD-box/genética
Bócio Nodular/genética
Ribonuclease III/genética
Tumor de Células de Sertoli-Leydig/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Neoplasias da Mama/genética
DNA/análise
DNA/sangue
Feminino
Fibroadenoma/genética
Predisposição Genética para Doença
Mutação em Linhagem Germinativa/genética
Bócio Nodular/cirurgia
Seres Humanos
Linfócitos/química
Masculino
Neoplasias Ovarianas/genética
Neoplasias Ovarianas/cirurgia
Linhagem
RNA Mensageiro Estocado/sangue
Análise de Sequência de DNA
Deleção de Sequência
Tumor de Células de Sertoli-Leydig/cirurgia
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Messenger, Stored); 9007-49-2 (DNA); EC 3.1.26.3 (DICER1 protein, human); EC 3.1.26.3 (Ribonuclease III); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180110
[Lr] Data última revisão:
180110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171201
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0904


  3 / 2702 MEDLINE  
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[PMID]:28748527
[Au] Autor:Kim J; Field A; Schultz KAP; Hill DA; Stewart DR
[Ad] Endereço:Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
[Ti] Título:The prevalence of DICER1 pathogenic variation in population databases.
[So] Source:Int J Cancer;141(10):2030-2036, 2017 Nov 15.
[Is] ISSN:1097-0215
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The DICER1 syndrome is associated with a variety of rare benign and malignant tumors, including pleuropulmonary blastoma (PPB), cystic nephroma (CN) and Sertoli-Leydig cell tumor (SLCT). The prevalence and penetrance of pathogenic DICER1 variation in the general population is unknown. We examined three publicly-available germline whole exome sequence datasets: Exome Aggregation Consortium (ExAC), 1,000 Genomes (1,000 G) and the Exome Sequencing Project (ESP). To avoid over-estimation of pathogenic DICER1 variation from cancer-associated exomes, we excluded The Cancer Genome Atlas (TCGA) variants from ExAC. All datasets were annotated with snpEff and ANNOVAR and variants were classified into four categories: likely benign (LB), unknown significance (VUS), likely pathogenic (LP), or pathogenic (P). The prevalence of DICER1 P/LP variants was 1:870 to 1:2,529 in ExAC-nonTCGA (53,105 exomes) estimated by metaSVM and REVEL/CADD, respectively. A more stringent prevalence calculation considering only loss-of-function and previously-published pathogenic variants detected in ExAC-nonTCGA, yielded a prevalence of 1:10,600. Despite the rarity of most DICER1 syndrome tumors, pathogenic DICER1 variation is more common than expected. If confirmed, these findings may inform future sequencing-based newborn screening programs for PPB, CN and SLCT, in which early detection improves prognosis.
[Mh] Termos MeSH primário: Biomarcadores/metabolismo
RNA Helicases DEAD-box/genética
Doenças Renais Císticas/genética
Neoplasias Ovarianas/genética
Blastoma Pulmonar/genética
Ribonuclease III/genética
Tumor de Células de Sertoli-Leydig/genética
[Mh] Termos MeSH secundário: Detecção Precoce de Câncer
Feminino
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Seres Humanos
Doenças Renais Císticas/epidemiologia
Neoplasias Ovarianas/epidemiologia
Prevalência
Prognóstico
Blastoma Pulmonar/epidemiologia
Tumor de Células de Sertoli-Leydig/epidemiologia
Estados Unidos/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); EC 3.1.26.3 (DICER1 protein, human); EC 3.1.26.3 (Ribonuclease III); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:180104
[Lr] Data última revisão:
180104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.1002/ijc.30907


  4 / 2702 MEDLINE  
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[PMID]:28448850
[Au] Autor:Harden ME; Munger K
[Ad] Endereço:Program in Virology, Division of Medical Sciences, Harvard Medical School Boston, MA 02115, USA; Department of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, MA 02111, USA.
[Ti] Título:Perturbation of DROSHA and DICER expression by human papillomavirus 16 oncoproteins.
[So] Source:Virology;507:192-198, 2017 07.
[Is] ISSN:1096-0341
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Many tumors, including cervical carcinoma, show dysregulated expression of the microRNA processing machinery, specifically DROSHA and DICER. Some cervical cancers exhibit chromosome 5p amplifications and DROSHA is the most significantly upregulated transcript and is observed in all tumors with 5p gain. DROSHA and DICER mRNA levels, however, are higher in HPV positive cancer lines than in an HPV negative cervical carcinoma line. We show that high-risk HPV E6/E7 expression in HPV negative C33A cervical carcinoma cells and primary human epithelial cell causes increased expression of DROSHA and DICER mRNA and protein. Most importantly, many DROSHA regulated microRNAs are dysregulated in HPV16 E6/E7 expressing cells. These results suggest that increased DROSHA levels contribute to HPV16 E6/E7 dysregulation of cellular microRNA expression.
[Mh] Termos MeSH primário: RNA Helicases DEAD-box/genética
Papillomavirus Humano 16/metabolismo
Proteínas Oncogênicas Virais/metabolismo
Proteínas E7 de Papillomavirus/metabolismo
Infecções por Papillomavirus/genética
Proteínas Repressoras/metabolismo
Ribonuclease III/genética
Neoplasias do Colo do Útero/genética
[Mh] Termos MeSH secundário: RNA Helicases DEAD-box/metabolismo
Feminino
Regulação Neoplásica da Expressão Gênica
Papillomavirus Humano 16/genética
Seres Humanos
MicroRNAs/genética
MicroRNAs/metabolismo
Proteínas Oncogênicas Virais/genética
Proteínas E7 de Papillomavirus/genética
Infecções por Papillomavirus/metabolismo
Infecções por Papillomavirus/virologia
Proteínas Repressoras/genética
Ribonuclease III/metabolismo
Neoplasias do Colo do Útero/metabolismo
Neoplasias do Colo do Útero/virologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (E6 protein, Human papillomavirus type 16); 0 (MicroRNAs); 0 (Oncogene Proteins, Viral); 0 (Papillomavirus E7 Proteins); 0 (Repressor Proteins); 0 (oncogene protein E7, Human papillomavirus type 16); EC 3.1.26.3 (DICER1 protein, human); EC 3.1.26.3 (DROSHA protein, human); EC 3.1.26.3 (Ribonuclease III); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171220
[Lr] Data última revisão:
171220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170428
[St] Status:MEDLINE


  5 / 2702 MEDLINE  
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[PMID]:28461238
[Au] Autor:Rios C; Warren D; Olson B; Abbott AL
[Ad] Endereço:Department of Biological Sciences, Marquette University, Milwaukee, WI 53201, United States.
[Ti] Título:Functional analysis of microRNA pathway genes in the somatic gonad and germ cells during ovulation in C. elegans.
[So] Source:Dev Biol;426(1):115-125, 2017 06 01.
[Is] ISSN:1095-564X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression that play critical roles in animal development and physiology, though functions for most miRNAs remain unknown. Worms with reduced miRNA biogenesis due to loss of Drosha or Pasha/DGCR8 activity are sterile and fail to ovulate, indicating that miRNAs are required for the process of oocyte maturation and ovulation. Starting with this penetrant sterile phenotype and using new strains created to perform tissue specific RNAi, we characterized the roles of the C. elegans Pasha, pash-1, and two miRNA-specific Argonautes, alg-1 and alg-2, in somatic gonad cells and in germ cells in the regulation of ovulation. Conditional loss of pash-1 activity resulted in a reduced rate of ovulation and in basal and ovulatory sheath contractions. Similarly, knockdown of miRNA-specific Argonautes in the cells of the somatic gonad by tissue-specific RNAi results in a reduction of the ovulation rate and in basal and ovulatory sheath contractions. Reduced miRNA pathway gene activity resulted in a range of defects, including oocytes that were pinched upon entry of the oocyte into the distal end of the spermatheca in about 42% of the ovulation events observed following alg-1 RNAi. This phenotype was not observed on worms exposed to control RNAi. In contrast, knockdown of alg-1 and alg-2 in germ cells results in few defects in oocyte maturation and ovulation. These data identify specific steps in the process of ovulation that require miRNA pathway gene activity in the somatic gonad cells.
[Mh] Termos MeSH primário: Proteínas Argonauta/genética
Proteínas de Caenorhabditis elegans/genética
Caenorhabditis elegans/genética
Células Germinativas/citologia
Gônadas/citologia
MicroRNAs/genética
Ovulação/genética
Proteínas de Ligação a RNA/genética
[Mh] Termos MeSH secundário: Animais
Diferenciação Celular/genética
MicroRNAs/metabolismo
Ovulação/metabolismo
Interferência de RNA
RNA Interferente Pequeno/genética
Ribonuclease III/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (ALG-1 protein, C elegans); 0 (ALG-2 protein, C elegans); 0 (Argonaute Proteins); 0 (Caenorhabditis elegans Proteins); 0 (MicroRNAs); 0 (RNA, Small Interfering); 0 (RNA-Binding Proteins); EC 3.1.26.3 (Ribonuclease III); EC 3.1.26.3 (drosha protein, C elegans)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171207
[Lr] Data última revisão:
171207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170503
[St] Status:MEDLINE


  6 / 2702 MEDLINE  
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[PMID]:28766837
[Au] Autor:Saskin A; de Kock L; Sabbaghian N; Apellaniz-Ruiz M; Bozkurt C; Bouron-Dal Soglio D; Foulkes WD
[Ad] Endereço:Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.
[Ti] Título:A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?
[So] Source:Pediatr Blood Cancer;65(1), 2018 Jan.
[Is] ISSN:1545-5017
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:DICER1 syndrome is an inherited disorder associated with at least a dozen rare, mainly pediatric-onset tumors. Its characterization remains incomplete. Some studies suggested that neuroblastoma (NB) may be involved in this syndrome. Here, we describe the case of a 14-year-old female presenting with a multinodular goiter (MNG) and a collision tumor composed of NB and cystic nephroma (CN). She is a carrier of a deleterious germline mutation in exon 23 of DICER1 and harbored different somatic mutations in the CN and MNG. However, no second hit was found in the NB, questioning its status as a DICER1-related tumor.
[Mh] Termos MeSH primário: RNA Helicases DEAD-box/genética
Éxons
Mutação em Linhagem Germinativa
Bócio Nodular/genética
Síndromes Neoplásicas Hereditárias/genética
Neuroblastoma/genética
Ribonuclease III/genética
[Mh] Termos MeSH secundário: Adolescente
Feminino
Bócio Nodular/enzimologia
Seres Humanos
Síndromes Neoplásicas Hereditárias/enzimologia
Neuroblastoma/enzimologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.26.3 (DICER1 protein, human); EC 3.1.26.3 (Ribonuclease III); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171201
[Lr] Data última revisão:
171201
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170803
[St] Status:MEDLINE
[do] DOI:10.1002/pbc.26715


  7 / 2702 MEDLINE  
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[PMID]:28743859
[Au] Autor:Jiang X; Hawkins JS; Lee J; Lizama CO; Bos FL; Zape JP; Ghatpande P; Peng Y; Louie J; Lagna G; Zovein AC; Hata A
[Ad] Endereço:Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, 94143, USA.
[Ti] Título:Let-7 microRNA-dependent control of leukotriene signaling regulates the transition of hematopoietic niche in mice.
[So] Source:Nat Commun;8(1):128, 2017 07 25.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hematopoietic stem and progenitor cells arise from the vascular endothelium of the dorsal aorta and subsequently switch niche to the fetal liver through unknown mechanisms. Here we report that vascular endothelium-specific deletion of mouse Drosha (Drosha ), an enzyme essential for microRNA biogenesis, leads to anemia and death. A similar number of hematopoietic stem and progenitor cells emerge from Drosha-deficient and control vascular endothelium, but Drosha -derived hematopoietic stem and progenitor cells accumulate in the dorsal aorta and fail to colonize the fetal liver. Depletion of the let-7 family of microRNAs is a primary cause of this defect, as it leads to activation of leukotriene B4 signaling and induction of the α4ß1 integrin cell adhesion complex in hematopoietic stem and progenitor cells. Inhibition of leukotriene B4 or integrin rescues maturation and migration of Drosha hematopoietic stem and progenitor cells to the fetal liver, while it hampers hematopoiesis in wild-type animals. Our study uncovers a previously undefined role of innate leukotriene B4 signaling as a gatekeeper of the hematopoietic niche transition.Hematopoietic stem and progenitor cells are generated first from the vascular endothelium of the dorsal aorta and then the fetal liver but what regulates this switch is unknown. Here, the authors show that changing miRNA biogenesis and leukotriene B4 signaling in mice modulates this switch in the niche.
[Mh] Termos MeSH primário: Hematopoese/genética
Células-Tronco Hematopoéticas/metabolismo
Leucotrieno B4/metabolismo
MicroRNAs/genética
Nicho de Células-Tronco/genética
[Mh] Termos MeSH secundário: Animais
Aorta/metabolismo
Endotélio Vascular/metabolismo
Fígado/embriologia
Fígado/metabolismo
Camundongos da Linhagem 129
Camundongos Endogâmicos C57BL
Camundongos Knockout
Camundongos Transgênicos
Microscopia de Fluorescência
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Ribonuclease III/genética
Ribonuclease III/metabolismo
Transdução de Sinais/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (MicroRNAs); 0 (mirnlet7 microRNA, mouse); 1HGW4DR56D (Leukotriene B4); EC 3.1.26.3 (Drosha protein, mouse); EC 3.1.26.3 (Ribonuclease III)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-00137-y


  8 / 2702 MEDLINE  
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[PMID]:28456307
[Au] Autor:Ma K; Li F; Liang P; Chen X; Liu Y; Tang Q; Gao X
[Ad] Endereço:Department of Entomology, China Agricultural University, Beijing, 100193, PR China.
[Ti] Título:RNA interference of Dicer-1 and Argonaute-1 increasing the sensitivity of Aphis gossypii Glover (Hemiptera: Aphididae) to plant allelochemical.
[So] Source:Pestic Biochem Physiol;138:71-75, 2017 May.
[Is] ISSN:1095-9939
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Plant allelochemicals are a group of important defensive agents of plants, which have been documented to be deleterious to insect herbivores. In the present study, we found that the expression level of Dicer-1 was significantly increased when Aphis gossypii adults fed on plant allelochemicals (tannic acid and gossypol) incorporated artificial diets. Consider that miRNAs play great regulatory roles in various biological processes, this suggested that miRNAs may be related to the regulation of enzymes involved in metabolism of plant allelochemicals in A. gossypii. To further reveal the roles of miRNAs in the response of A. gossypii against plant allelochemicals, both Dicer-1 and Argonaute-1, an important component of the RNA-induced silencing complex (RISC) in miRNA pathway, were silenced using systemic RNA interference (RNAi). The results indicated that silence of Dicer-1 reduced the expression of miRNAs, and resulted in a high mortality of A. gossypii when fed on both tannic acid and gossypol. The silencing of Argonaute-1 resulted in the mortality of A. gossypii by the treatment of tannic acid significantly increased compared with control, however, the sensitivity of A. gossypii to gossypol was not significantly changed. It suggested that miRNAs play potential regulatory roles in the response of A. gossypii to plant allelochemicals. These results should be useful to understand the molecular mechanisms of the cotton aphid adaption to plant allelochemicals.
[Mh] Termos MeSH primário: Afídeos/metabolismo
Proteínas Argonauta/metabolismo
Proteínas de Insetos/metabolismo
Feromônios/toxicidade
RNA Helicases/metabolismo
Ribonuclease III/metabolismo
[Mh] Termos MeSH secundário: Adaptação Fisiológica
Animais
Afídeos/genética
Proteínas Argonauta/genética
Regulação Enzimológica da Expressão Gênica
Proteínas de Insetos/genética
MicroRNAs/genética
MicroRNAs/metabolismo
Estrutura Molecular
Feromônios/química
RNA Helicases/genética
Interferência de RNA
Ribonuclease III/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Argonaute Proteins); 0 (Insect Proteins); 0 (MicroRNAs); 0 (Pheromones); EC 3.1.26.3 (Ribonuclease III); EC 3.6.4.13 (RNA Helicases)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE


  9 / 2702 MEDLINE  
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[PMID]:28991133
[Au] Autor:Pierce JM; LaCroix P; Heym K; Bowman WP; Margraf L; Iglesias J; Ray A
[Ad] Endereço:*Department of Pediatrics, Texas College of Osteopathic Medicine Departments of ‡Hematology and Oncology §Pathology ∥Surgery, Cook Children's Medical Center, Fort Worth, TX †Department of Pediatrics, Arkansas Children's Hospital, Little Rock, AR.
[Ti] Título:Pleuropulmonary Blastoma: A Single-center Case Series of 6 Patients.
[So] Source:J Pediatr Hematol Oncol;39(8):e419-e422, 2017 Nov.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pleuropulmonary blastoma (PPB) is a rare malignancy of childhood which when left untreated often shows pathologic progression resulting in a more aggressive neoplasm with an increasingly poor prognosis. Because of this it is important to diagnose and initiate treatment early. However, early stage PPB can appear as a cystic lung lesion on imaging and can be easily misdiagnosed given the rarity of the malignancy. Moreover, current therapeutic guidelines for these lesions are not well established, making treatment decisions and management difficult for clinicians. DICER1 mutations are known to be present in a majority of PPBs with or without a germline mutation and may be part of a familial tumor predisposition syndrome. The clinical, pathologic, and genetic data of 6 patients are summarized here. Two patients with type I PPB and 4 patients with type II PPB underwent surgical and chemotherapeutic treatment and all are alive and without recurrence 1 to 13 years after treatment. With increasing awareness of PPB, it is important for clinicians to consider this malignant entity in the evaluation and treatment of patients presenting with a cystic lung abnormality, especially in cases with a history strongly suggestive of a DICER1 mutation.
[Mh] Termos MeSH primário: Blastoma Pulmonar/diagnóstico
Blastoma Pulmonar/terapia
[Mh] Termos MeSH secundário: Biópsia
Pré-Escolar
Terapia Combinada
RNA Helicases DEAD-box/genética
Análise Mutacional de DNA
Feminino
Seres Humanos
Lactente
Masculino
Mutação
Blastoma Pulmonar/genética
Recidiva
Ribonuclease III/genética
Fatores de Risco
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.26.3 (DICER1 protein, human); EC 3.1.26.3 (Ribonuclease III); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171010
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000972


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[PMID]:28977573
[Au] Autor:Herrera-Carrillo E; Berkhout B
[Ad] Endereço:Laboratory of Experimental Virology, Department of Medical Microbiology, Academic Medical Center, University of Amsterdam, the Netherlands.
[Ti] Título:Dicer-independent processing of small RNA duplexes: mechanistic insights and applications.
[So] Source:Nucleic Acids Res;45(18):10369-10379, 2017 Oct 13.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:MicroRNAs (miRNAs) play a pivotal role in the regulation of cellular gene expression via the conserved RNA interference (RNAi) mechanism. Biogenesis of the unusual miR-451 does not require Dicer. This molecule is instead processed by the Argonaute 2 (Ago2) enzyme. Similarly, unconventional short hairpin RNA (shRNA) molecules have been designed as miR-451 mimics that rely exclusively on Ago2 for maturation. We will review recent progress made in the understanding of this alternative processing route. Next, we describe different Dicer-independent shRNA designs that have been developed and discuss their therapeutic advantages and disadvantages. As an example, we will present the route towards development of a durable gene therapy against HIV-1.
[Mh] Termos MeSH primário: RNA Helicases DEAD-box/fisiologia
MicroRNAs/metabolismo
Processamento Pós-Transcricional do RNA
RNA de Cadeia Dupla/metabolismo
Ribonuclease III/fisiologia
[Mh] Termos MeSH secundário: Animais
Seres Humanos
MicroRNAs/química
Conformação de Ácido Nucleico
Interferência de RNA/fisiologia
RNA Interferente Pequeno/química
RNA Interferente Pequeno/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (MicroRNAs); 0 (RNA, Double-Stranded); 0 (RNA, Small Interfering); EC 3.1.26.3 (DICER1 protein, human); EC 3.1.26.3 (Ribonuclease III); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171005
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx779



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