Base de dados : MEDLINE
Pesquisa : G05.308.207 [Categoria DeCS]
Referências encontradas : 5470 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 547 ir para página                         

  1 / 5470 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29408272
[Au] Autor:Saif I; Kasmi Y; Allali K; Ennaji MM
[Ad] Endereço:Team of Virology, Oncology and Medical Biotechnologies, Laboratory of Virology, Microbiology, Quality and Biotechnologies/ETB, Faculty of Science sand Technologies-Mohammedia, Hassan II University of Casablanca, Morocco.
[Ti] Título:Prediction of DNA methylation in the promoter of gene suppressor tumor.
[So] Source:Gene;651:166-173, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The epigenetics methylation of cytosine is the most common epigenetic form in DNA sequences. It is highly concentrated in the promoter regions of the genes, leading to an inactivation of tumor suppressors regardless of their initial function. In this work, we aim to identify the highly methylated regions; the cytosine-phosphate-guanine (CpG) island located on the promoters and/or the first exon gene known for their key roles in the cell cycle, hence the need to study gene-gene interactions. The Frommer and hidden Markov model algorithms are used as computational methods to identify CpG islands with specificity and sensitivity up to 76% and 80%, respectively. The results obtained show, on the one hand, that the genes studied are suspected of developing hypermethylation in the promoter region of the gene involved in the case of a cancer. We then showed that the relative richness in CG results from a high level of methylation. On the other hand, we observe that the gene-gene interaction exhibits co-expression between the chosen genes. This let us to conclude that the hidden Markov model algorithm predicts more specific and valuable information about the hypermethylation in gene as a preventive and diagnostics tools for the personalized medicine; as that the tumor-suppresser-genes have relative co-expression and complementary relations which the hypermethylation affect in the samples studied in our work.
[Mh] Termos MeSH primário: Biologia Computacional/métodos
Ilhas de CpG
Metilação de DNA
Genes Supressores de Tumor
Regiões Promotoras Genéticas
[Mh] Termos MeSH secundário: Algoritmos
DNA de Neoplasias
Conjuntos de Dados como Assunto
Epistasia Genética
Seres Humanos
Cadeias de Markov
Modelos Genéticos
Neoplasias/genética
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA, Neoplasm)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180207
[St] Status:MEDLINE


  2 / 5470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29214786
[Au] Autor:Kim KY; Bae YS; Ji W; Shin D; Kim HS; Kim DS
[Ad] Endereço:Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Korea.
[Ti] Título:ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease.
[So] Source:Yonsei Med J;59(1):119-127, 2018 Jan.
[Is] ISSN:1976-2437
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guérin (BCG) injection sites observed in the disease are poorly understood. We investigated the association between KD and single nucleotide polymorphisms (SNPs) in two candidate genes: inositol 1,4,5-triphosphate 3-kinase (ITPKC), a well-studied KD-associated gene, and solute carrier 11a1 (SLC11A1), which is associated with the hypersensitive reaction to the BCG strain in Koreans. MATERIALS AND METHODS: Associations between KD and SNPs in two genes were evaluated. Potential associations between BCG injection site erythema and SNPs in two genes were also evaluated. Gene-gene interactions between ITPKC and SLC11A1 in KD and BCG injection site erythema were also analyzed. RESULTS: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. SNP rs77624405 in SLC11A1 was associated with KD. Comparisons of KD patients with and without BCG injection site erythema revealed that SNP rs17235409 in SLC11A1 was associated with erythema; no erythema-associated SNPs in ITPKC were identified. Interactions between ITPKC rs28493229_GG and SLC11A1 rs17235409_GA and between ITPKC rs10420685_GG and SLC11A1 rs17235409_AA were strongly associated with BCG injection site erythema. CONCLUSION: This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans. The genetic variants identified in this study affected KD and erythema of BCG injection sites independently and through gene-gene interactions. Also, the effects of the polymorphisms were age-dependent.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Proteínas de Transporte de Cátions/genética
Epistasia Genética
Predisposição Genética para Doença
Síndrome de Linfonodos Mucocutâneos/genética
Fosfotransferases (Aceptor do Grupo Álcool)/genética
Polimorfismo de Nucleotídeo Único/genética
[Mh] Termos MeSH secundário: Vacina BCG/administração & dosagem
Estudos de Casos e Controles
Criança
Pré-Escolar
Eritema/complicações
Feminino
Estudos de Associação Genética
Seres Humanos
Lactente
Masculino
Taxa de Mutação
República da Coreia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BCG Vaccine); 0 (Cation Transport Proteins); 0 (natural resistance-associated macrophage protein 1); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.127 (Inositol 1,4,5-trisphosphate 3-kinase)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE
[do] DOI:10.3349/ymj.2018.59.1.119


  3 / 5470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29302025
[Au] Autor:Guéant JL; Chéry C; Oussalah A; Nadaf J; Coelho D; Josse T; Flayac J; Robert A; Koscinski I; Gastin I; Filhine-Tresarrieu P; Pupavac M; Brebner A; Watkins D; Pastinen T; Montpetit A; Hariri F; Tregouët D; Raby BA; Chung WK; Morange PE; Froese DS; Baumgartner MR; Benoist JF; Ficicioglu C; Marchand V; Motorin Y; Bonnemains C; Feillet F; Majewski J; Rosenblatt DS
[Ad] Endereço:INSERM, UMR_S954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), 54505, Nancy, France. jean-louis.gueant@univ-lorraine.fr.
[Ti] Título:APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
[So] Source:Nat Commun;9(1):67, 2018 01 04.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B metabolism that we name "epi-cblC". The subjects are compound heterozygotes for a genetic mutation and for a promoter epimutation, detected in blood, fibroblasts, and sperm, at the MMACHC locus; 5-azacytidine restores the expression of MMACHC in fibroblasts. MMACHC is flanked by CCDC163P and PRDX1, which are in the opposite orientation. The epimutation is present in three generations and results from PRDX1 mutations that force antisense transcription of MMACHC thereby possibly generating a H3K36me3 mark. The silencing of PRDX1 transcription leads to partial hypomethylation of the epiallele and restores the expression of MMACHC. This example of epi-cblC demonstrates the need to search for compound epigenetic-genetic heterozygosity in patients with typical disease manifestation and genetic heterozygosity in disease-causing genes located in other gene trios.
[Mh] Termos MeSH primário: Proteínas de Transporte/genética
Epistasia Genética
Erros Inatos do Metabolismo/genética
Mutação
Peroxirredoxinas/genética
Vitamina B 12/metabolismo
[Mh] Termos MeSH secundário: Alelos
Azacitidina/farmacologia
Sequência de Bases
Inibidores Enzimáticos/farmacologia
Saúde da Família
Feminino
Fibroblastos/efeitos dos fármacos
Fibroblastos/metabolismo
Heterozigoto
Seres Humanos
Masculino
Erros Inatos do Metabolismo/metabolismo
Linhagem
Sequenciamento Completo do Genoma
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (Enzyme Inhibitors); 0 (MMACHC protein, human); EC 1.11.1.15 (PRDX1 protein, human); EC 1.11.1.15 (Peroxiredoxins); M801H13NRU (Azacitidine); P6YC3EG204 (Vitamin B 12)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180106
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-02306-5


  4 / 5470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29309433
[Au] Autor:Kobayashi M; Jitoku D; Iwayama Y; Yamamoto N; Toyota T; Suzuki K; Kikuchi M; Hashimoto T; Kanahara N; Kurumaji A; Yoshikawa T; Nishikawa T
[Ad] Endereço:Department of Psychiatry and Behavioral Sciences, Graduate School of Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.
[Ti] Título:Association studies of WD repeat domain 3 and chitobiosyldiphosphodolichol beta-mannosyltransferase genes with schizophrenia in a Japanese population.
[So] Source:PLoS One;13(1):e0190991, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Schizophrenia and schizophrenia-like symptoms induced by the dopamine agonists and N-methyl-D aspartate type glutamate receptor antagonists occur only after the adolescent period. Similarly, animal models of schizophrenia by these drugs are also induced after the critical period around postnatal week three. Based upon the development-dependent onsets of these psychotomimetic effects, by using a DNA microarray technique, we identified the WD repeat domain 3 (WDR3) and chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1) genes as novel candidates for schizophrenia-related molecules, whose mRNAs were up-regulated in the adult (postnatal week seven), but not in the infant (postnatal week one) rats by an indirect dopamine agonist, and phencyclidine, an antagonist of the NMDA receptor. WDR3 and other related proteins are the nuclear proteins presumably involved in various cellular activities, such as cell cycle progression, signal transduction, apoptosis, and gene regulation. ALG1 is presumed to be involved in the regulation of the protein N-glycosylation. To further elucidate the molecular pathophysiology of schizophrenia, we have evaluated the genetic association of WDR3 and ALG1 in schizophrenia. We examined 21 single nucleotide polymorphisms [SNPs; W1 (rs1812607)-W16 (rs6656360), A1 (rs8053916)-A10 (rs9673733)] from these genes using the Japanese case-control sample (1,808 schizophrenics and 2,170 matched controls). No significant genetic associations of these SNPs were identified. However, we detected a significant association of W4 (rs319471) in the female schizophrenics (allelic P = 0.003, genotypic P = 0.008). Based on a haplotype analysis, the observed haplotypes consisting of W4 (rs319471)-W5 (rs379058) also displayed a significant association in the female schizophrenics (P = 0.016). Even after correction for multiple testing, these associations remained significant. Our findings suggest that the WDR3 gene may likely be a sensitive factor in female patients with schizophrenia, and that modification of the WDR3 signaling pathway warrants further investigation as to the pathophysiology of schizophrenia.
[Mh] Termos MeSH primário: Manosiltransferases/genética
Proteínas Nucleares/genética
[Mh] Termos MeSH secundário: Adulto
Estudos de Casos e Controles
Epistasia Genética
Feminino
Seres Humanos
Japão
Masculino
Meia-Idade
Análise de Sequência com Séries de Oligonucleotídeos
Polimorfismo de Nucleotídeo Único
Esquizofrenia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Nuclear Proteins); 0 (WDR3 protein, human); EC 2.4.1.- (Mannosyltransferases); EC 2.4.1.142 (chitobiosyldiphosphodolichol beta-mannosyltransferase)
[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:180109
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190991


  5 / 5470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28454051
[Au] Autor:Bi Y; Huang X; Niu W; Chen S; Wu X; Cao Y; Zhang R; Yang F; Wang L; Li W; Xu Y; He L; Yu T; He G; Li X
[Ad] Endereço:Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai 200030, China; Shanghai Institute of Mental Health, 600 South Wan Ping Road, Shanghai 200030, China.
[Ti] Título:No association between SLC6A2, SLC6A3, DRD2 polymorphisms and schizophrenia in the Han Chinese population.
[So] Source:Psychiatry Res;253:398-400, 2017 Jul.
[Is] ISSN:1872-7123
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:This study was intended to ascertain whether SNPs in dopaminergic and serotoninergic pathway genes SLC6A2, SLC6A3 and DRD2 are associated with schizophrenia in Han Chinese people. We conducted a case-control study by genotyping 7 SNPs of the three genes in 1034 schizophrenia patients and 1034 controls. No significant difference in the allelic or genotypic frequency was detected between cases and controls despite one positive haplotype (rs1362621-rs2242446-rs5564). Stratified analysis of gender and gene-gene interaction analysis showed no positive results. In summary, our study denies the major role of these SNPs within the three genes for schizophrenia in Han Chinese.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Proteínas da Membrana Plasmática de Transporte de Dopamina/genética
Proteínas da Membrana Plasmática de Transporte de Norepinefrina/genética
Receptores de Dopamina D2/genética
Esquizofrenia/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Estudos de Casos e Controles
China
Epistasia Genética
Feminino
Genótipo
Haplótipos
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DRD2 protein, human); 0 (Dopamine Plasma Membrane Transport Proteins); 0 (Norepinephrine Plasma Membrane Transport Proteins); 0 (Receptors, Dopamine D2); 0 (SLC6A2 protein, human); 0 (SLC6A3 protein, human)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE


  6 / 5470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28746338
[Au] Autor:Crawford L; Zeng P; Mukherjee S; Zhou X
[Ad] Endereço:Department of Biostatistics, Brown University, Providence, Rhode Island, United States of America.
[Ti] Título:Detecting epistasis with the marginal epistasis test in genetic mapping studies of quantitative traits.
[So] Source:PLoS Genet;13(7):e1006869, 2017 Jul.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Epistasis, commonly defined as the interaction between multiple genes, is an important genetic component underlying phenotypic variation. Many statistical methods have been developed to model and identify epistatic interactions between genetic variants. However, because of the large combinatorial search space of interactions, most epistasis mapping methods face enormous computational challenges and often suffer from low statistical power due to multiple test correction. Here, we present a novel, alternative strategy for mapping epistasis: instead of directly identifying individual pairwise or higher-order interactions, we focus on mapping variants that have non-zero marginal epistatic effects-the combined pairwise interaction effects between a given variant and all other variants. By testing marginal epistatic effects, we can identify candidate variants that are involved in epistasis without the need to identify the exact partners with which the variants interact, thus potentially alleviating much of the statistical and computational burden associated with standard epistatic mapping procedures. Our method is based on a variance component model, and relies on a recently developed variance component estimation method for efficient parameter inference and p-value computation. We refer to our method as the "MArginal ePIstasis Test", or MAPIT. With simulations, we show how MAPIT can be used to estimate and test marginal epistatic effects, produce calibrated test statistics under the null, and facilitate the detection of pairwise epistatic interactions. We further illustrate the benefits of MAPIT in a QTL mapping study by analyzing the gene expression data of over 400 individuals from the GEUVADIS consortium.
[Mh] Termos MeSH primário: Mapeamento Cromossômico/estatística & dados numéricos
Epistasia Genética
Modelos Genéticos
Locos de Características Quantitativas/genética
[Mh] Termos MeSH secundário: Algoritmos
Simulação por Computador
Regulação da Expressão Gênica
Estudo de Associação Genômica Ampla/estatística & dados numéricos
Seres Humanos
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:180219
[Lr] Data última revisão:
180219
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170727
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006869


  7 / 5470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28464948
[Au] Autor:Rabanal FA; Mandáková T; Soto-Jiménez LM; Greenhalgh R; Parrott DL; Lutzmayer S; Steffen JG; Nizhynska V; Mott R; Lysak MA; Clark RM; Nordborg M
[Ad] Endereço:Gregor Mendel Institute (GMI), Austrian Academy of Sciences, Vienna Biocenter (VBC), Dr. Bohr-Gasse 3, 1030, Vienna, Austria. fernando.rabanal@tuebingen.mpg.de.
[Ti] Título:Epistatic and allelic interactions control expression of ribosomal RNA gene clusters in Arabidopsis thaliana.
[So] Source:Genome Biol;18(1):75, 2017 05 03.
[Is] ISSN:1474-760X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Ribosomal RNA (rRNA) accounts for the majority of the RNA in eukaryotic cells, and is encoded by hundreds to thousands of nearly identical gene copies, only a subset of which are active at any given time. In Arabidopsis thaliana, 45S rRNA genes are found in two large ribosomal DNA (rDNA) clusters and little is known about the contribution of each to the overall transcription pattern in the species. RESULTS: By taking advantage of genome sequencing data from the 1001 Genomes Consortium, we characterize rRNA gene sequence variation within and among accessions. Notably, variation is not restricted to the pre-rRNA sequences removed during processing, but it is also present within the highly conserved ribosomal subunits. Through linkage mapping we assign these variants to a particular rDNA cluster unambiguously and use them as reporters of rDNA cluster-specific expression. We demonstrate that rDNA cluster-usage varies greatly among accessions and that rDNA cluster-specific expression and silencing is controlled via genetic interactions between entire rDNA cluster haplotypes (alleles). CONCLUSIONS: We show that rRNA gene cluster expression is controlled via complex epistatic and allelic interactions between rDNA haplotypes that apparently regulate the entire rRNA gene cluster. Furthermore, the sequence polymorphism we discovered implies that the pool of rRNA in a cell may be heterogeneous, which could have functional consequences.
[Mh] Termos MeSH primário: Arabidopsis/genética
Epistasia Genética
Regulação da Expressão Gênica de Plantas
Família Multigênica
RNA Ribossômico/genética
[Mh] Termos MeSH secundário: Alelos
Haplótipos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (RNA, Ribosomal); 0 (RNA, ribosomal, 45S)
[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:170504
[St] Status:MEDLINE
[do] DOI:10.1186/s13059-017-1209-z


  8 / 5470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28449694
[Au] Autor:Matzaraki V; Kumar V; Wijmenga C; Zhernakova A
[Ad] Endereço:Department of Genetics, University of Groningen, University Medical Center Groningen, PO Box 30001, 9700 RB, Groningen, The Netherlands.
[Ti] Título:The MHC locus and genetic susceptibility to autoimmune and infectious diseases.
[So] Source:Genome Biol;18(1):76, 2017 04 27.
[Is] ISSN:1474-760X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In the past 50 years, variants in the major histocompatibility complex (MHC) locus, also known as the human leukocyte antigen (HLA), have been reported as major risk factors for complex diseases. Recent advances, including large genetic screens, imputation, and analyses of non-additive and epistatic effects, have contributed to a better understanding of the shared and specific roles of MHC variants in different diseases. We review these advances and discuss the relationships between MHC variants involved in autoimmune and infectious diseases. Further work in this area will help to distinguish between alternative hypotheses for the role of pathogens in autoimmune disease development.
[Mh] Termos MeSH primário: Doenças Autoimunes/genética
Doenças Transmissíveis/genética
Antígenos HLA/genética
[Mh] Termos MeSH secundário: Epistasia Genética
Estudos de Associação Genética
Predisposição Genética para Doença
Variação Genética
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (HLA Antigens)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1186/s13059-017-1207-1


  9 / 5470 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:29368872
[Au] Autor:Rubanovich AV; Khromov-Borisov NN
[Ti] Título:[Genetic risk assessment of the joint effect of several genes: Critical appraisal].
[So] Source:Genetika;52(7):865-78, 2016 Jul.
[Is] ISSN:0016-6758
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:When assessing the combined action of genes on the quantitative or qualitative phenotype we encounter a phenomenon that could be named the "paradox of the risk score summation." It arises when the search of risk allele and assessment of their combined action are performed with the same single dataset. Too often such methodological error occurs when calculating the so called genetic risk score (GRS), which refers to the total number of alleles associated with the disease. Examples from numerous published genetic association studies are considered in which the claimed statistically significant effects can be attributed to the "risk score summation paradox." In the second section of the review we discuss the current modifications of multiple regression analysis addressed to the so called "n ≪ p problem" (the number of points is much smaller than the number of possible predictors). Various algorithms for the model selection (searching the significant predictor combinations) are considered, beginning from the common marginal screening of the "top" predictors to LASSO and other modern algorithms of compressed sensing.
[Mh] Termos MeSH primário: Alelos
Epistasia Genética
Modelos Genéticos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[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 / 5470 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27779464
[Au] Autor:Keefe MD; Bonkowsky JL
[Ad] Endereço:Department of Pediatrics, Department of Neurobiology and Anatomy, University of Utah School of Medicine , Salt Lake City, Utah.
[Ti] Título:Transvection Arising from Transgene Interactions in Zebrafish.
[So] Source:Zebrafish;14(1):8-9, 2017 02.
[Is] ISSN:1557-8542
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:There has been a rapid expansion in use of transgenic technologies in zebrafish. We report a novel example of transinteractions of genetic elements, or transvection. This interaction led to a novel expression pattern and illustrates a precautionary example regarding use of transgenes in zebrafish.
[Mh] Termos MeSH primário: Animais Geneticamente Modificados/genética
Epistasia Genética
Proteínas de Fluorescência Verde/metabolismo
Sequências Reguladoras de Ácido Nucleico
Transgenes
Peixe-Zebra/genética
[Mh] Termos MeSH secundário: Animais
Animais Geneticamente Modificados/crescimento & desenvolvimento
Animais Geneticamente Modificados/metabolismo
Regulação da Expressão Gênica
Proteínas de Fluorescência Verde/genética
Seres Humanos
Canais de Potássio Corretores do Fluxo de Internalização/genética
Canais de Potássio Corretores do Fluxo de Internalização/metabolismo
Regiões Promotoras Genéticas
Peixe-Zebra/crescimento & desenvolvimento
Peixe-Zebra/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (KCNJ2 protein, human); 0 (Potassium Channels, Inwardly Rectifying); 147336-22-9 (Green Fluorescent Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:180201
[Lr] Data última revisão:
180201
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161026
[St] Status:MEDLINE
[do] DOI:10.1089/zeb.2016.1312



página 1 de 547 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