Base de dados : MEDLINE
Pesquisa : G05.365.590.770 [Categoria DeCS]
Referências encontradas : 95 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 10 ir para página                        

  1 / 95 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29273555
[Au] Autor:Xu Y; Wang H; Xiao B; Wei W; Liu Y; Ye H; Ying X; Chen Y; Liu X; Ji X; Sun Y
[Ad] Endereço:Center for Clinical Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Department of Genetics, Shanghai Institute of Pediatric Research, Shanghai, China.
[Ti] Título:Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing.
[So] Source:Gene;645:113-118, 2018 Mar 01.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Genomic rearrangements, such as intragenic deletions and duplications, are the most prevalent types of mutation in the DMD gene, and DMD mutations underlie Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Using multiplex ligation dependent probe amplification (MLPA) and DMD gene-targeted sequencing, we performed a molecular characterization of two cases of complex noncontiguous duplication rearrangements that involved inverted duplications. The breakpoint sequences were analyzed to investigate the mechanisms of the rearrangement. The two cases shared the same duplication events (Dup-nml-Dup/inv), and both involved microhomology and small insertions at the breakpoints. Additionally, in case 1, SNP sequencing results indicated that the de novo duplication mutation arose in the allele that originated from the grandfather. This study has identified a novel type of DMD complex rearrangement and provides insight into the molecular basis of this genomic rearrangement.
[Mh] Termos MeSH primário: Duplicação Cromossômica
Deficiências do Desenvolvimento/genética
Distrofina/genética
Distrofia Muscular de Duchenne/genética
[Mh] Termos MeSH secundário: Criança
Pontos de Quebra do Cromossomo
Feminino
Seres Humanos
Masculino
Reação em Cadeia da Polimerase Multiplex
Análise de Sequência de DNA
Inversão de Sequência
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DMD protein, human); 0 (Dystrophin)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180129
[Lr] Data última revisão:
180129
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171224
[St] Status:MEDLINE


  2 / 95 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28803676
[Au] Autor:Claytor SC; Subramaniam K; Landrau-Giovannetti N; Chinchar VG; Gray MJ; Miller DL; Mavian C; Salemi M; Wisely S; Waltzek TB
[Ad] Endereço:Department of Wildlife Ecology and Conservation, University of Florida, Gainesville, FL, USA.
[Ti] Título:Ranavirus phylogenomics: Signatures of recombination and inversions among bullfrog ranaculture isolates.
[So] Source:Virology;511:330-343, 2017 Nov.
[Is] ISSN:1096-0341
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ranaviruses are emerging pathogens of fish, amphibians, and reptiles that threaten aquatic animal industries and wildlife worldwide. Our objective was to genetically characterize ranaviruses isolated during separate bullfrog Lithobates catesbeianus die-offs that occurred eight years apart on the same North American farm. The earlier outbreak was due to a highly pathogenic strain of common midwife toad virus (CMTV) previously known only from Europe and China. The later outbreak was due to a chimeric ranavirus that displayed a novel genome arrangement and a DNA backbone typical for Frog virus 3 (FV3) strains except for interspersed fragments acquired through recombination with the CMTV isolated earlier. Both bullfrog ranaviruses are more pathogenic than wild-type FV3 suggesting recombination may have resulted in the increased pathogenicity observed in the ranavirus isolated in the later outbreak. Our study underscores the role international trade in farmed bullfrogs may have played in the global dissemination of highly pathogenic ranaviruses.
[Mh] Termos MeSH primário: Infecções por Vírus de DNA/veterinária
Variação Genética
Ranavirus/classificação
Ranavirus/genética
Recombinação Genética
Inversão de Sequência
[Mh] Termos MeSH secundário: Animais
Infecções por Vírus de DNA/virologia
DNA Viral/química
DNA Viral/genética
América do Norte
Rana catesbeiana/virologia
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Viral)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170815
[St] Status:MEDLINE


  3 / 95 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28490568
[Au] Autor:Hudecova I; Jiang P; Davies J; Lo YMD; Kadir RA; Chiu RWK
[Ad] Endereço:Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Hong Kong, China.
[Ti] Título:Noninvasive detection of -related inversions and sequence variants in maternal plasma of hemophilia carriers.
[So] Source:Blood;130(3):340-347, 2017 Jul 20.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Direct detection of and sequence variants in maternal plasma of hemophilia carriers has been demonstrated by microfluidics digital PCR. Noninvasive prenatal assessment of the most clinically relevant group of sequence variants among patients with hemophilia, namely, those involving -related inversions disrupting the gene, poses additional challenges because of its molecular complexity. We investigated the use of droplet digital PCR (ddPCR) and targeted massively parallel sequencing (MPS) for maternal plasma DNA analysis to noninvasively determine fetal mutational status in pregnancies at risk for hemophilia. We designed family-specific ddPCR assays to detect causative sequence variants scattered across the and genes. A haplotype-based approach coupled with targeted MPS was applied to deduce fetal genotype by capturing a 7.6-Mb region spanning the gene in carriers with -related inversions. The ddPCR analysis correctly determined fetal hemophilia status in 15 at-risk pregnancies in samples obtained from 8 to 42 weeks of gestation. There were 3 unclassified samples, but no misclassification. Detailed fetal haplotype maps of the gene region involving -related inversions obtained through targeted MPS enabled correct diagnoses of fetal mutational status in 3 hemophilia families. Our data suggest it is feasible to apply targeted MPS to interrogate maternally inherited -related inversions, whereas ddPCR represents an affordable approach for the identification of and sequence variants in maternal plasma. These advancements may bring benefits for the pregnancy management for carriers of hemophilia sequence variants; in particular, the common -related inversions, associated with the most severe clinical phenotype.
[Mh] Termos MeSH primário: Fator VIII/genética
Doenças Fetais/diagnóstico
Hemofilia A/diagnóstico
Heterozigoto
Diagnóstico Pré-Natal/métodos
Inversão de Sequência
[Mh] Termos MeSH secundário: Adulto
Fator IX/genética
Fator IX/metabolismo
Fator VIII/metabolismo
Feminino
Doenças Fetais/sangue
Doenças Fetais/genética
Doenças Fetais/patologia
Feto
Idade Gestacional
Hemofilia A/sangue
Hemofilia A/genética
Hemofilia A/patologia
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Dispositivos Lab-On-A-Chip
Masculino
Reação em Cadeia da Polimerase/instrumentação
Reação em Cadeia da Polimerase/métodos
Gravidez
Diagnóstico Pré-Natal/instrumentação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9001-27-8 (Factor VIII); 9001-28-9 (Factor IX)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170824
[Lr] Data última revisão:
170824
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170512
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2016-12-755017


  4 / 95 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28025331
[Au] Autor:Vicente-Salvador D; Puig M; Gayà-Vidal M; Pacheco S; Giner-Delgado C; Noguera I; Izquierdo D; Martínez-Fundichely A; Ruiz-Herrera A; Estivill X; Aguado C; Lucas-Lledó JI; Cáceres M
[Ad] Endereço:Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra (Barcelona), Spain.
[Ti] Título:Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.
[So] Source:Hum Mol Genet;26(3):567-581, 2017 Feb 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The growing catalogue of structural variants in humans often overlooks inversions as one of the most difficult types of variation to study, even though they affect phenotypic traits in diverse organisms. Here, we have analysed in detail 90 inversions predicted from the comparison of two independently assembled human genomes: the reference genome (NCBI36/HG18) and HuRef. Surprisingly, we found that two thirds of these predictions (62) represent errors either in assembly comparison or in one of the assemblies, including 27 misassembled regions in HG18. Next, we validated 22 of the remaining 28 potential polymorphic inversions using different PCR techniques and characterized their breakpoints and ancestral state. In addition, we determined experimentally the derived allele frequency in Europeans for 17 inversions (DAF = 0.01-0.80), as well as the distribution in 14 worldwide populations for 12 of them based on the 1000 Genomes Project data. Among the validated inversions, nine have inverted repeats (IRs) at their breakpoints, and two show nucleotide variation patterns consistent with a recurrent origin. Conversely, inversions without IRs have a unique origin and almost all of them show deletions or insertions at the breakpoints in the derived allele mediated by microhomology sequences, which highlights the importance of mechanisms like FoSTeS/MMBIR in the generation of complex rearrangements in the human genome. Finally, we found several inversions located within genes and at least one candidate to be positively selected in Africa. Thus, our study emphasizes the importance of careful analysis and validation of large-scale genomic predictions to extract reliable biological conclusions.
[Mh] Termos MeSH primário: Inversão Cromossômica/genética
Genoma Humano/genética
Anotação de Sequência Molecular
Inversão de Sequência/genética
[Mh] Termos MeSH secundário: Evolução Molecular
Seres Humanos
Polimorfismo Genético
Seleção Genética/genética
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170915
[Lr] Data última revisão:
170915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161228
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddw415


  5 / 95 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27741255
[Au] Autor:Wan TW; Khokhlova OE; Iwao Y; Higuchi W; Hung WC; Reva IV; Singur OA; Gostev VV; Sidorenko SV; Peryanova OV; Salmina AB; Reva GV; Teng LJ; Yamamoto T
[Ad] Endereço:Department of Epidemiology, Genomics, and Evolution, International Medical Education and Research Center, Niigata, Japan.
[Ti] Título:Complete Circular Genome Sequence of Successful ST8/SCCmecIV Community-Associated Methicillin-Resistant Staphylococcus aureus (OC8) in Russia: One-Megabase Genomic Inversion, IS256's Spread, and Evolution of Russia ST8-IV.
[So] Source:PLoS One;11(10):e0164168, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ST8/SCCmecIV community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) has been a common threat, with large USA300 epidemics in the United States. The global geographical structure of ST8/SCCmecIV has not yet been fully elucidated. We herein determined the complete circular genome sequence of ST8/SCCmecIVc strain OC8 from Siberian Russia. We found that 36.0% of the genome was inverted relative to USA300. Two IS256, oppositely oriented, at IS256-enriched hot spots were implicated with the one-megabase genomic inversion (MbIN) and vSaß split. The behavior of IS256 was flexible: its insertion site (att) sequences on the genome and junction sequences of extrachromosomal circular DNA were all divergent, albeit with fixed sizes. A similar multi-IS256 system was detected, even in prevalent ST239 healthcare-associated MRSA in Russia, suggesting IS256's strong transmission potential and advantage in evolution. Regarding epidemiology, all ST8/SCCmecIVc strains from European, Siberian, and Far Eastern Russia, examined had MbIN, and geographical expansion accompanied divergent spa types and resistance to fluoroquinolones, chloramphenicol, and often rifampicin. Russia ST8/SCCmecIVc has been associated with life-threatening infections such as pneumonia and sepsis in both community and hospital settings. Regarding virulence, the OC8 genome carried a series of toxin and immune evasion genes, a truncated giant surface protein gene, and IS256 insertion adjacent to a pan-regulatory gene. These results suggest that unique single ST8/spa1(t008)/SCCmecIVc CA-MRSA (clade, Russia ST8-IVc) emerged in Russia, and this was followed by large geographical expansion, with MbIN as an epidemiological marker, and fluoroquinolone resistance, multiple virulence factors, and possibly a multi-IS256 system as selective advantages.
[Mh] Termos MeSH primário: Infecções Comunitárias Adquiridas/microbiologia
Genoma Bacteriano
Staphylococcus aureus Resistente à Meticilina/genética
[Mh] Termos MeSH secundário: Proteínas de Bactérias/genética
Proteínas de Bactérias/metabolismo
Sequência de Bases
Evolução Biológica
Infecções Comunitárias Adquiridas/patologia
DNA Bacteriano/química
DNA Bacteriano/metabolismo
DNA Circular/química
DNA Circular/metabolismo
Eletroforese em Gel de Campo Pulsado
Eritromicina/farmacologia
Genótipo
Staphylococcus aureus Resistente à Meticilina/efeitos dos fármacos
Staphylococcus aureus Resistente à Meticilina/isolamento & purificação
Staphylococcus aureus Resistente à Meticilina/fisiologia
Testes de Sensibilidade Microbiana
Dados de Sequência Molecular
RNA Mensageiro/metabolismo
RNA Ribossômico 16S/genética
RNA Ribossômico 16S/metabolismo
Federação Russa
Análise de Sequência de DNA
Inversão de Sequência
Virulência/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bacterial Proteins); 0 (DNA, Bacterial); 0 (DNA, Circular); 0 (RNA, Messenger); 0 (RNA, Ribosomal, 16S); 63937KV33D (Erythromycin)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170613
[Lr] Data última revisão:
170613
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161015
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0164168


  6 / 95 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27329736
[Au] Autor:Vogt J; Wernstedt A; Ripperger T; Pabst B; Zschocke J; Kratz C; Wimmer K
[Ad] Endereço:Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
[Ti] Título:PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.
[So] Source:Eur J Hum Genet;24(11):1598-1604, 2016 Nov.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Biallelic PMS2 mutations are responsible for more than half of all cases of constitutional mismatch repair deficiency (CMMRD), a recessively inherited childhood cancer predisposition syndrome. The mismatch repair gene PMS2 is partly embedded within one copy of an inverted 100-kb low-copy repeat (LCR) on 7p22.1. In an individual with CMMRD syndrome, PMS2 was found to be homozygously inactivated by a complex chromosomal rearrangement, which separates the 5'-part from the 3'-part of the gene. The rearrangement involves sequences of the inverted 100-kb LCR and a human endogenous retrovirus element and may be associated with an inversion that is indistinguishable from the known inversion polymorphism affecting the ~0.7-Mb sequence intervening the LCR. Its formation is best explained by a replication-based mechanism (RBM) such as fork stalling and template switching/microhomology-mediated break-induced replication (FoSTeS/MMBIR). This finding supports the hypothesis that the inverted LCR can not only facilitate the formation of the non-allelic homologous recombination-mediated inversion polymorphism but it also promotes the occurrence of more complex rearrangements that can be associated with a large inversion, as well, but are mediated by a RBM. This further suggests that among the inversion polymorphism on 7p22.1, more complex rearrangements might be hidden. Furthermore, as the locus is embedded in a common fragile site (CFS) region, this rearrangement also supports the recently raised hypothesis that CFS sequence motifs may facilitate replication-based rearrangement mechanisms.
[Mh] Termos MeSH primário: Neoplasias Encefálicas/genética
Cromossomos Humanos Par 7/genética
Neoplasias Colorretais/genética
Retrovirus Endógenos/genética
Rearranjo Gênico
Endonuclease PMS2 de Reparo de Erro de Pareamento/genética
Síndromes Neoplásicas Hereditárias/genética
[Mh] Termos MeSH secundário: Neoplasias Encefálicas/diagnóstico
Criança
Sítios Frágeis do Cromossomo
Neoplasias Colorretais/diagnóstico
Homozigoto
Seres Humanos
Masculino
Síndromes Neoplásicas Hereditárias/diagnóstico
Inversão de Sequência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.1.- (PMS2 protein, human); EC 3.6.1.3 (Mismatch Repair Endonuclease PMS2)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160623
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2016.75


  7 / 95 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:26859882
[Au] Autor:Nakayama-Imaohji H; Hirota K; Yamasaki H; Yoneda S; Nariya H; Suzuki M; Secher T; Miyake Y; Oswald E; Hayashi T; Kuwahara T
[Ad] Endereço:Department of Microbiology, Faculty of Medicine, Kagawa University, 1750-1 Miki, Kagawa 761-0793, Japan.
[Ti] Título:DNA Inversion Regulates Outer Membrane Vesicle Production in Bacteroides fragilis.
[So] Source:PLoS One;11(2):e0148887, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Phase changes in Bacteroides fragilis, a member of the human colonic microbiota, mediate variations in a vast array of cell surface molecules, such as capsular polysaccharides and outer membrane proteins through DNA inversion. The results of the present study show that outer membrane vesicle (OMV) formation in this anaerobe is also controlled by DNA inversions at two distantly localized promoters, IVp-I and IVp-II that are associated with extracellular polysaccharide biosynthesis and the expression of outer membrane proteins. These promoter inversions are mediated by a single tyrosine recombinase encoded by BF2766 (orthologous to tsr19 in strain NCTC9343) in B. fragilis YCH46, which is located near IVp-I. A series of BF2766 mutants were constructed in which the two promoters were locked in different configurations (IVp-I/IVp-II = ON/ON, OFF/OFF, ON/OFF or OFF/ON). ON/ON B. fragilis mutants exhibited hypervesiculating, whereas the other mutants formed only a trace amount of OMVs. The hypervesiculating ON/ON mutants showed higher resistance to treatment with bile, LL-37, and human ß-defensin 2. Incubation of wild-type cells with 5% bile increased the population of cells with the ON/ON genotype. These results indicate that B. fragilis regulates the formation of OMVs through DNA inversions at two distantly related promoter regions in response to membrane stress, although the mechanism underlying the interplay between the two regions controlled by the invertible promoters remains unknown.
[Mh] Termos MeSH primário: Proteínas da Membrana Bacteriana Externa/biossíntese
Bacteroides fragilis/metabolismo
Inversão de Sequência/genética
[Mh] Termos MeSH secundário: Antibacterianos/farmacologia
Bacteroides fragilis/efeitos dos fármacos
Bacteroides fragilis/fisiologia
Membrana Celular/metabolismo
Farmacorresistência Bacteriana
Vesículas Extracelulares/metabolismo
Vesículas Extracelulares/fisiologia
Regulação Bacteriana da Expressão Gênica/genética
Regulação Bacteriana da Expressão Gênica/fisiologia
Regiões Promotoras Genéticas/genética
Regiões Promotoras Genéticas/fisiologia
Proteômica
Inversão de Sequência/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Anti-Bacterial Agents); 0 (Bacterial Outer Membrane Proteins)
[Em] Mês de entrada:1607
[Cu] Atualização por classe:160224
[Lr] Data última revisão:
160224
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160210
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0148887


  8 / 95 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
PubMed Central Texto completo
Texto completo
[PMID]:26743572
[Au] Autor:Wu Y; Hu Z; Li Z; Pang J; Feng M; Hu X; Wang X; Lin-Peng S; Liu B; Chen F; Wu L; Liang D
[Ad] Endereço:State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
[Ti] Título:In situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific iPSCs.
[So] Source:Sci Rep;6:18865, 2016 Jan 08.
[Is] ISSN:2045-2322
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Nearly half of severe Hemophilia A (HA) cases are caused by F8 intron 22 inversion (Inv22). This 0.6-Mb inversion splits the 186-kb F8 into two parts with opposite transcription directions. The inverted 5' part (141 kb) preserves the first 22 exons that are driven by the intrinsic F8 promoter, leading to a truncated F8 transcript due to the lack of the last 627 bp coding sequence of exons 23-26. Here we describe an in situ genetic correction of Inv22 in patient-specific induced pluripotent stem cells (iPSCs). By using TALENs, the 627 bp sequence plus a polyA signal was precisely targeted at the junction of exon 22 and intron 22 via homologous recombination (HR) with high targeting efficiencies of 62.5% and 52.9%. The gene-corrected iPSCs retained a normal karyotype following removal of drug selection cassette using a Cre-LoxP system. Importantly, both F8 transcription and FVIII secretion were rescued in the candidate cell types for HA gene therapy including endothelial cells (ECs) and mesenchymal stem cells (MSCs) derived from the gene-corrected iPSCs. This is the first report of an efficient in situ genetic correction of the large inversion mutation using a strategy of targeted gene addition.
[Mh] Termos MeSH primário: Fator VIII/genética
Terapia Genética/métodos
Hemofilia A/genética
Células-Tronco Pluripotentes Induzidas/metabolismo
Integrases/genética
Inversão de Sequência
Nucleases dos Efetores Semelhantes a Ativadores de Transcrição/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Diferenciação Celular
Códon sem Sentido
Células Endoteliais/citologia
Células Endoteliais/metabolismo
Éxons
Fator VIII/biossíntese
Fator VIII/secreção
Expressão Gênica
Engenharia Genética
Vetores Genéticos/química
Vetores Genéticos/metabolismo
Hemofilia A/sangue
Hemofilia A/patologia
Hemofilia A/terapia
Recombinação Homóloga
Seres Humanos
Células-Tronco Pluripotentes Induzidas/citologia
Integrases/metabolismo
Íntrons
Masculino
Células Mesenquimais Estromais/citologia
Células Mesenquimais Estromais/metabolismo
Meia-Idade
Cultura Primária de Células
Regiões Promotoras Genéticas
Nucleases dos Efetores Semelhantes a Ativadores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Codon, Nonsense); 9001-27-8 (Factor VIII); EC 2.7.7.- (Cre recombinase); EC 2.7.7.- (Integrases); EC 3.1.- (Transcription Activator-Like Effector Nucleases)
[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:160109
[St] Status:MEDLINE
[do] DOI:10.1038/srep18865


  9 / 95 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26731510
[Au] Autor:Kim MJ; Hong EJ; Kim I
[Ad] Endereço:a College of Agriculture & Life Sciences, Chonnam National University, Gwangju 500-757, Republic of Korea.
[Ti] Título:Complete mitochondrial genome of Camponotus atrox (Hymenoptera: Formicidae): a new tRNA arrangement in Hymenoptera.
[So] Source:Genome;59(1):59-74, 2016 Jan.
[Is] ISSN:1480-3321
[Cp] País de publicação:Canada
[La] Idioma:eng
[Ab] Resumo:We sequenced the complete mitochondrial (mt) genome of Camponotus atrox (Hymenoptera: Formicidae), which is only distributed in Korea. The genome was 16 540 bp in size and contained typical sets of genes (13 protein-coding genes, 22 tRNAs, and 2 rRNAs). The C. atrox A+T-rich region, at 1402 bp, was the longest of all sequenced ant genomes and was composed of an identical tandem repeat consisting of six 100-bp copies and one 96-bp copy. A total of 315 bp of intergenic spacer sequence was spread over 23 regions. An alignment of the spacer sequences in ants was largely feasible among congeneric species, and there was substantial sequence divergence, indicating their potential use as molecular markers for congeneric species. The A/T contents at the first and second codon positions of protein-coding genes (PCGs) were similar for ant species, including C. atrox (73.9% vs. 72.3%, on average). With increased taxon sampling among hymenopteran superfamilies, differences in the divergence rates (i.e., the non-synonymous substitution rates) between the suborders Symphyta and Apocrita were detected, consistent with previous results. The C. atrox mt genome had a unique gene arrangement, trnI-trnM-trnQ, at the A+T-rich region and ND2 junction (underline indicates inverted gene). This may have originated from a tandem duplication of trnM-trnI, resulting in trnM-trnI-trnM-trnI-trnQ, and the subsequent loss of the first trnM and second trnI, resulting in trnI-trnM-trnQ.
[Mh] Termos MeSH primário: Formigas/genética
Genoma Mitocondrial
RNA de Transferência/genética
[Mh] Termos MeSH secundário: Sequência Rica em At
Animais
Sequência de Bases
Ordem dos Genes
Genes Mitocondriais
RNA/genética
RNA Ribossômico/genética
Análise de Sequência de DNA
Inversão de Sequência
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (RNA, Ribosomal); 0 (RNA, mitochondrial); 63231-63-0 (RNA); 9014-25-9 (RNA, Transfer)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:161020
[Lr] Data última revisão:
161020
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160106
[St] Status:MEDLINE
[do] DOI:10.1139/gen-2015-0080


  10 / 95 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26498247
[Au] Autor:Liu Q; Hesson LB; Nunez AC; Packham D; Williams R; Ward RL; Sloane MA
[Ad] Endereço:Adult Cancer Program , Lowy Cancer Research Centre and Prince of Wales Clinical School, UNSW Australia , Sydney New South Wales 2052 , Australia.
[Ti] Título:A cryptic paracentric inversion of MSH2 exons 2-6 causes Lynch syndrome.
[So] Source:Carcinogenesis;37(1):10-17, 2016 Jan.
[Is] ISSN:1460-2180
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Lynch syndrome is an autosomal dominant disorder that predisposes carriers of DNA mismatch repair (MMR) gene mutations to early-onset cancer. Germline testing screens exons and splice sites for mutations, but does not examine introns or RNA transcripts for alterations. Pathogenic mutations have not been detected in ~30% of suspected Lynch syndrome cases with standard screening practices. We present a 38-year-old male with a clinicopathological and family history consistent with Lynch syndrome, including loss of MSH2 expression in his tumor. Germline testing revealed normal MSH2 coding sequence, splice sites and exon copy number, however, cDNA sequencing identified an aberrant MSH2 transcript lacking exons 2-6. An inversion PCR on germline DNA identified an ~18kb unbalanced, paracentric inversion within MSH2, with breakpoints in a long terminal repeat in intron 1 and an Alu repeat in intron 6. The 3' end of the inversion had a 1.2 kb deletion and an 8 bp insertion at the junction with intron 6. Screening of 55 additional Australian patients presenting with MSH2-deficient tumors who were negative in germline genetic tests for MSH2 mutations identified another inversion-positive patient. We propose an Alu-mediated recombination model to explain the origin of the inversion. Our study illustrates the potential value of cDNA screening to identify patients with cryptic MMR gene rearrangements, clarifies why standard testing may not detect some pathogenic alterations, and provides a genetic test for screening individuals with suspected Lynch syndrome that present with unexplained MSH2-deficient tumors.
[Mh] Termos MeSH primário: Neoplasias Colorretais Hereditárias sem Polipose/genética
Éxons
Proteína 2 Homóloga a MutS/genética
Inversão de Sequência
[Mh] Termos MeSH secundário: Adulto
Sequência de Aminoácidos
Sequência de Bases
Neoplasias Colorretais Hereditárias sem Polipose/sangue
Análise Mutacional de DNA/métodos
DNA Complementar/sangue
DNA Complementar/genética
DNA de Neoplasias/sangue
DNA de Neoplasias/genética
Rearranjo Gênico
Mutação em Linhagem Germinativa
Seres Humanos
Masculino
Dados de Sequência Molecular
Linhagem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Complementary); 0 (DNA, Neoplasm); EC 3.6.1.3 (MSH2 protein, human); EC 3.6.1.3 (MutS Homolog 2 Protein)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:170522
[Lr] Data última revisão:
170522
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151027
[St] Status:MEDLINE
[do] DOI:10.1093/carcin/bgv154



página 1 de 10 ir para página                        
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde