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[PMID]:29408624
[Au] Autor:Wang X; Li W; Xu X; Wang W; He K; Fan H
[Ad] Endereço:Institute of Veterinary Medicine, Jiangsu Academy of Agricultural Sciences, Key Laboratory of Veterinary Biological Engineering and Technology, Ministry of Agriculture, National Center for Engineering Research of Veterinary Bio-products, Nanjing 210014, China; College of Veterinary Medicine, Nanjing
[Ti] Título:Phylogenetic analysis of two goat-origin PCV2 isolates in China.
[So] Source:Gene;651:57-61, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Complete genome characterization of non-porcine origin Porcine circovirus type 2 (PCV2) was first described in 2014 in China. In the present study, we first identified PCV2 nucleotides in goat samples and the prevalence of PCV2 in goat was 6.15%. However, only two new strains, Goat2014-4 and Goat2014-5, could be completely sequenced. The genome of the strain Goat2014-4, which collected from the goat infected with PPRV, contains 1766 nt; strain Goat2014-5, which originated from a healthy goat, is comprised of 1767 nt. The results showed that they shared the highest nucleotide identity with BDH and the lowest similarity with DK1980PMWSfree strain and they belonged only to genotype PCV2d. Meanwhile, they shared higher homology with porcine-origin PCV2 strains than others. Moreover, a detailed analysis of the capsid amino acid sequences revealed that there were distinct differences for goat2014-4 (708 bp) and goat2014-5 (705 bp); strain Goat2014-4 showed an elongation of two amino acids, and strains Goat2014-5 showed an elongation of one amino acid compared with other reference strains. This is the first report of the genetic analysis of goat-origin PCV2 isolates. It also provides an additional supported evidence for cross-species transmission of PCV2.
[Mh] Termos MeSH primário: Infecções por Circoviridae/veterinária
Circovirus/classificação
Circovirus/isolamento & purificação
Doenças das Cabras/virologia
[Mh] Termos MeSH secundário: Animais
Proteínas do Capsídeo/genética
China
Infecções por Circoviridae/virologia
Frequência do Gene
Genoma Viral
Cabras
Filogenia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Capsid Proteins)
[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 / 65726 MEDLINE  
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[PMID]:29408271
[Au] Autor:Ben Khelifa S; Martinez R; Dandana A; Khochtali I; Ferchichi S; Castaño L
[Ad] Endereço:Unit of Clinical and Molecular Biology/UR17ES29, Faculty of Pharmacy, Monastir, Tunisia. Electronic address: souhaira34@gmail.com.
[Ti] Título:Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations.
[So] Source:Gene;651:44-48, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance, an early clinical onset and a primary defect in ß-cell function. Mutations in the GCK and HNF1A genes are the most common cause of MODY among Caucasians. The etiology of MODY in Tunisia stills a challenge for researchers. The aim of this study was to screen for mutations in GCK, HNF1A, HNF4A and INS genes in North African Tunisians subjects, in whom the clinical profile was very suggestive of MODY. A total of 23 unrelated patients, with clinical presentation of MODY were tested for mutations in GCK, HNF1A, HNF4A and INS genes, using Denaturing High Performance Liquid Chromatography (DHPLC), Multiplex Ligation-depend Probe Amplification (MLPA) and sequencing analysis. We identified the previously reported mutation c-169C > T in one patient as well as a new mutation c-457C > T in two unrelated patients. No mutations were detected in the HNF1A and INS genes. Despite restrictive clinical criteria used for selecting patients in this study, the most common genes known for MODY do not explain the majority of cases in Tunisians. This suggests that there are others candidate or unidentified genes contributing to the etiology of MODY in Tunisians families.
[Mh] Termos MeSH primário: Diabetes Mellitus Tipo 2/genética
Glucoquinase/genética
Fator 1-alfa Nuclear de Hepatócito/genética
Mutação
[Mh] Termos MeSH secundário: Adulto
Feminino
Frequência do Gene
Fator 4 Nuclear de Hepatócito/genética
Seres Humanos
Masculino
Polimorfismo Genético
Regiões Promotoras Genéticas
Proteínas Serina-Treonina Quinases
Tunísia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (HNF1A protein, human); 0 (HNF4A protein, human); 0 (Hepatocyte Nuclear Factor 1-alpha); 0 (Hepatocyte Nuclear Factor 4); EC 2.7.1.2 (Glucokinase); EC 2.7.11.1 (Protein-Serine-Threonine Kinases); EC 2.7.11.1 (germinal center kinases)
[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


  3 / 65726 MEDLINE  
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[PMID]:29372577
[Au] Autor:Mansouri F; Heydarzadeh R; Yousefi S
[Ad] Endereço:Department of Genetics and Immunology, Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran.
[Ti] Título:The association of interferon-gamma, interleukin-4 and interleukin-17 single-nucleotide polymorphisms with susceptibility to tuberculosis.
[So] Source:APMIS;126(3):227-233, 2018 Mar.
[Is] ISSN:1600-0463
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Susceptibility to tuberculosis and progression of the disease depend on interactions between the bacterial agent, host immune system, and environmental and genetic factors. In this case-controlled study, we aimed to determine the role of single-nucleotide polymorphisms of interferon-gamma, interleukin-4 and interleukin-17 in susceptibility to tuberculosis. Genomic DNA was extracted from peripheral blood samples of patients and controls. The association of single-nucleotide polymorphisms in interleukin-4 (-590C/T), interleukin-17 (-152A/G) and interferon-gamma (+874T/A) was investigated by polymerase chain reaction (PCR)-restriction fragment length polymorphism and amplification refractory mutation system-PCR. A total of 76 tuberculosis patients and 119 healthy individuals were included in this study. The interferon-gamma (+874T/A) TA genotype was significantly associated with susceptibility to tuberculosis in patients compared to controls (OR = 1.76; 95%CI = 0.84-3.71; p = 0.007), while the interferon-gamma (+874T/A) TT genotype (OR = 0.51; 95%CI = 0.19-1.36; p = 0.007) had protective effects against tuberculosis and was related to a low risk of tuberculosis development. The difference between allelic and genotypic frequencies of interleukin-4 (-590C/T) between patients and controls was not significant (p = 0.46). Multivariate logistic regression analysis revealed that the interleukin-17 (-152A/G) AG genotype (OR = 2.27; 95%CI = 1.19-4.34; p = 0.03) and AA genotype (OR = 1.03; 95%CI = 0.43-2.44; p = 0.03) were significantly different between patients and controls. In conclusion, single-nucleotide mutations in different cytokine genes may have protective effects or increase the risk of tuberculosis.
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Interferon gama/genética
Interleucina-17/genética
Interleucina-4/genética
Tuberculose Pulmonar/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Estudos de Casos e Controles
DNA/genética
Feminino
Frequência do Gene/genética
Genótipo
Seres Humanos
Masculino
Meia-Idade
Mycobacterium tuberculosis/imunologia
Técnicas de Amplificação de Ácido Nucleico
Polimorfismo de Fragmento de Restrição
Polimorfismo de Nucleotídeo Único/genética
Tuberculose Pulmonar/microbiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (IL17A protein, human); 0 (IL4 protein, human); 0 (Interleukin-17); 207137-56-2 (Interleukin-4); 82115-62-6 (Interferon-gamma); 9007-49-2 (DNA)
[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:180127
[St] Status:MEDLINE
[do] DOI:10.1111/apm.12810


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[PMID]:29231017
[Au] Autor:Wang YL; Sheng X; Li M; Chen YL; Lin Y; Chen LQ
[Ad] Endereço:Department of Forensic Medicine, Inner Mongolia Medical University, Hohhot 010030, China.
[Ti] Título:[Forensic Application of HuaxiaTM Platinum Kit].
[So] Source:Fa Yi Xue Za Zhi;33(2):129-135, 2017 Apr.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVES: To investigate the genetic polymorphism of 23 autosomal STR loci of Huaxia™ Platinum kit in Chinese Han population, and to evaluate the forensic efficiency of Huaxia™ Platinum kit. METHODS: A total of 500 unrelated healthy individuals from Han population were genotyped with Huaxia™ Platinum kit. The frequency distribution and the parameter of population genetics of STR loci were analysed statistically. Huaxia™ Platinum kit was compared with other 7 commercial STR kits commonly seen at home and abroad in the number of STR loci, interior label, fluorescent mark, total number of alleles in Ladder and system effectiveness. RESULTS: All the 23 autosomal STR loci were consistent with Hardy-Weinberg equilibrium ( >0.05). The discrimination power was 0.791 5-0.986 2. The polymorphism information content (PIC) was 0.559 0-0.914 0. The combined discrimination power (CDP) was 1-4.1×10⁻²8, while combined probability of paternity exclusion in trio (CPET) and in duo (CPED) were 1-4.1×10⁻¹° and 1-8.4×10⁻7, respectively. Compared with other 7 kits, Huaxia™ Platinum kit contained the most number of alleles within the Ladder. CONCLUSIONS: All the 23 autosomal STR loci of Huaxia™ Platinum kit with highly polymorphic in Han population can be used for paternity testing and individual identification. Compared with other 7 kits, it appears that Huaxia™ Platinum kit can provide more genetic information.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Genética Forense/métodos
Genética Populacional
Paternidade
Platina
Polimorfismo Genético
[Mh] Termos MeSH secundário: Alelos
Grupo com Ancestrais do Continente Asiático/etnologia
China
Frequência do Gene
Genótipo
Seres Humanos
Repetições de Microssatélites
Probabilidade
Kit de Reagentes para Diagnóstico
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Reagent Kits, Diagnostic); 49DFR088MY (Platinum)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171213
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2017.02.005


  5 / 65726 MEDLINE  
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[PMID]:29205967
[Au] Autor:Liu YJ; Guo LH; Yue JT; Shi MS
[Ad] Endereço:Institute of Criminal Science and Technology, Xuchang Public Security Bureau, Xuchang 461000, China.
[Ti] Título:[Forensic Application of 16 X-STR Loci in Henan Han Population].
[So] Source:Fa Yi Xue Za Zhi;32(6):420-423, 2016 Dec.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVES: To investigate the genetic data of 16 X-STR loci in Henan Han population and to assess the application value in forensic science. METHODS: The DNA of 326 unrelated individuals in Henan Han population were amplified using Golden ye™ DNA identification system 17X kit, and the PCR products were analyzed by electrophoresis through 3130xl genetic analyzer. The fragment sizes of alleles were analyzed subsequently by GeneMapper® ID-X. Allele frequencies and population genetics parameters of 16 X-STR loci were analyzed statistically and compared with the available data of other Han populations from different regions. RESULTS: Among the 16 X-STR loci, were found to be moderately polymorphic and the other 15 X-STR loci were highly polymorphic. The cumulative discrimination power in females and males were 0.999 999 999 999 992 and 0.999 999 996 577 712, respectively. The combined power of exclusion in trios and in duos were 0.999 999 971 and 0.999 992 574, respectively. CONCLUSIONS: The 16 X-STR loci meet the application requires of forensic genetics, especially for testing the special paternity cases.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Genética Forense
Repetições de Microssatélites
[Mh] Termos MeSH secundário: Alelos
China
DNA/análise
Feminino
Ciências Forenses
Frequência do Gene
Genética Populacional
Seres Humanos
Masculino
Reação em Cadeia da Polimerase
Polimorfismo Genético
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171206
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2016.06.006


  6 / 65726 MEDLINE  
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[PMID]:29205006
[Au] Autor:Zou Y; Guo JJ; Li QP; Zuo DH; Liu JS; Guo YD; Yan J; Zha L; Cai JF; Lan LM
[Ad] Endereço:Department of Forensic Science, School of Basic Medical Sciences, Central South University, Changsha 410013, China.
[Ti] Título:Genetic Polymorphisms of 21 STR Loci in Hunan Province-based Han Population.
[So] Source:Fa Yi Xue Za Zhi;32(5):356-362, 2016 Oct.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To investigate the genetic polymorphisms of 21 short tandem repeat (STR) loci ( , , , , , , , , , , , , , , , , , , , and ). METHODS: A total of 560 blood samples were collected from unrelated healthy individuals of Han population in Hunan Province. Chelex-100 extraction method was applied to the extraction of genomic DNA, and an AGCU EX22 Kit and 9700 STR amplification was used in amplification reactions. The products were separated and analyzed on 310 Genetic Analyzer. RESULTS: A total of 248 alleles were observed, the allelic frequencies ranging from 0.001 to 0.518. Observation of genotype distributions for each locus showed no deviations from Hardy-Weinberg equilibrium except ( =0.023). The combined power of discrimination, combined power of exclusion, and combined matching probability of the 21 STR loci were approximately 0.999 999 999 999 999 999 999 999 8, 0.999 999 998, and 1.36×10⁻²5, respectively. CONCLUSIONS: The 21 STR loci show high polymorphisms in the Han population, which can provide valuable data and a theoretical basis for forensic individual identification and paternity testing.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Genética Populacional
Repetições de Microssatélites
Polimorfismo Genético
[Mh] Termos MeSH secundário: Alelos
China
Impressões Digitais de DNA
Frequência do Gene
Testes Genéticos
Genótipo
Seres Humanos
Reação em Cadeia da Polimerase
Probabilidade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171206
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2016.05.010


  7 / 65726 MEDLINE  
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[PMID]:29188670
[Au] Autor:Sun DP; Min YL; Lian CZ; Yu WD
[Ad] Endereço:Nanjing Public Security Bureau, Nanjing 210012, China.
[Ti] Título:[Genetic Polymorphisms of 24 Y-STR Loci in Nanjing Han Population].
[So] Source:Fa Yi Xue Za Zhi;32(4):269-272, 2016 Aug.
[Is] ISSN:1004-5619
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVES: To investigate the genetic polymorphism of and other 23 Y-STR loci and to explore its application value in forensic science. METHODS: Y-STRs loci of 580 unrelated Han males in Nanjing were amplified using AGCU Y-PLUS PCR (24) kit. The genetic parameters of 24 Y-STR loci such as gene frequency were calculated by software, and compared with the data of Hubei, Liao- ning, Guangdong, Beijing and Chengdu Han population. RESULTS: Total 580 haplotypes were detected among 24 Y-STR loci in 580 unrelated Han males in Nanjing. The genetic diversity (GD) of each locus was from 0.294 6 to 0.939 8, and the haplotypes diversity (HD) was 0.983 7. There was a significant difference between the GD of 6 areas. CONCLUSIONS: The 24 Y-STR loci such as in Nanjing Han population have an application value in forensic science. They can also be used for cases testing and pedigree investigation.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Cromossomos Humanos Y/genética
Polimorfismo Genético
[Mh] Termos MeSH secundário: Pequim
China
Ciências Forenses
Frequência do Gene
Haplótipos
Seres Humanos
Masculino
Linhagem
Reação em Cadeia da Polimerase
Software
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180308
[Lr] Data última revisão:
180308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171201
[St] Status:MEDLINE
[do] DOI:10.3969/j.issn.1004-5619.2016.04.009


  8 / 65726 MEDLINE  
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[PMID]:28457509
[Au] Autor:Fracasso NCA; de Andrade ES; Wiezel CEV; Andrade CCF; Zanão LR; da Silva MS; Marano LA; Donadi EA; C Castelli E; Simões AL; Mendes-Junior CT
[Ad] Endereço:Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 14049-900, Ribeirão Preto-SP, Brazil. Electronic address: nadiadeaguiar@gmail.com.
[Ti] Título:Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil.
[So] Source:Leg Med (Tokyo);25:43-51, 2017 Mar.
[Is] ISSN:1873-4162
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project. To achieve this goal, 12 SLC45A2 SNPs were evaluated in 288 unrelated individuals from the Ribeirão Preto city area, Southeastern Brazil. SNPs were genotyped by PCR-RFLP or Allele-specific PCR, followed by polyacrylamide gel electrophoresis. Haplotypes of each individual were inferred by two independent computational methods, PHASE and Partition-Ligation-Expectation-Maximization (PL-EM) algorithms, and 34 different haplotypes were identified. The hp9 haplotype was the most frequent (58.3%) and was associated with the presence of blond/red hair, pale skin, blue eyes and freckles. All haplotypes significantly associated with dark or light pigmentation features harbor the 374L and 374F alleles, respectively. These results emphasize the role played by haplotypes at SLC45A2 in the determination of pigmentation aspects of human populations and reinforce the relevance of SNP L374F in human pigmentation.
[Mh] Termos MeSH primário: Cor de Olho/genética
Cor de Cabelo/genética
Haplótipos/genética
Melanose/genética
Pigmentação da Pele/genética
[Mh] Termos MeSH secundário: Alelos
Brasil
Frequência do Gene
Projeto Genoma Humano
Seres Humanos
Polimorfismo de Fragmento de Restrição
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180307
[Lr] Data última revisão:
180307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170502
[St] Status:MEDLINE


  9 / 65726 MEDLINE  
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[PMID]:28453696
[Au] Autor:Böger C; Krüger S; Behrens HM; Bock S; Haag J; Kalthoff H; Röcken C
[Ad] Endereço:Department of Pathology, Christian-Albrechts-University, Kiel, Germany
[Ti] Título:Epstein-Barr virus-associated gastric cancer reveals intratumoral heterogeneity of PIK3CA mutations.
[So] Source:Ann Oncol;28(5):1005-1014, 2017 05 01.
[Is] ISSN:1569-8041
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Background: Recent whole-genome sequencing identified four molecular subtypes of gastric cancer (GC), of which the subgroup of Epstein-Barr virus-associated GC (EBVaGC) showed a significant enrichment of PIK3CA mutations. We here aimed to validate independently the enrichment of PIK3CA mutations in EBVaGC of a Central European GC cohort, to correlate EBV status with clinico-pathological patient characteristics and to test for a major issue of GC, intratumoral heterogeneity. Patients and methods: In a first step, 484 GCs were screened for EBV and PIK3CA hot spot mutations of exon 9/20 using EBER in situ hybridization and pyrosequencing, respectively. Secondly, an extended sequencing of PIK3CA also utilizing next generation sequencing was carried out in all EBVaGCs and 96 corresponding lymph node metastases. Results: Twenty-two GCs were EBER-positive, all being of latency type I. Intratumoral heterogeneity of EBER-positivity was found in 18% of EBVaGCs. Twenty-three GCs held PIK3CA mutations in hot spot regions of exon 9 or 20, being significantly more common in EBVaGCs (P < 0.001). Subsequent extended sequencing of PIK3CA of EBVaGCs showed that 14% harvested three to five different PIK3CA genotypes (including wildtype) in the same primary tumor, albeit in histologically and spatially distinct tumor areas, and that intratumoral heterogeneity of PIK3CA was also present in the corresponding lymph node metastases. Conclusions: Our findings unravel issues of tumor heterogeneity and illustrate that the assessment of the EBV status in tissue biopsies might carry the risk of sampling errors, which may significantly hamper adequate molecular tumor classification in a more clinical setting. Moreover, this is the first report of intratumoral heterogeneity of PIK3CA mutations in GC, and our findings lead to the conclusion that PIK3CA mutant and -wildtype tumor subclones are skilled to metastasize independently to different regional lymph nodes.
[Mh] Termos MeSH primário: Adenocarcinoma/genética
Classe I de Fosfatidilinositol 3-Quinases/genética
Infecções por Vírus Epstein-Barr/genética
Neoplasias Gástricas/genética
[Mh] Termos MeSH secundário: Adenocarcinoma/mortalidade
Adenocarcinoma/secundário
Adenocarcinoma/virologia
Idoso
Infecções por Vírus Epstein-Barr/mortalidade
Infecções por Vírus Epstein-Barr/patologia
Infecções por Vírus Epstein-Barr/virologia
Feminino
Frequência do Gene
Estudos de Associação Genética
Heterogeneidade Genética
Predisposição Genética para Doença
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Estimativa de Kaplan-Meier
Metástase Linfática
Masculino
Técnicas de Diagnóstico Molecular
Mutação
Neoplasias Gástricas/mortalidade
Neoplasias Gástricas/patologia
Neoplasias Gástricas/virologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.1.137 (Class I Phosphatidylinositol 3-Kinases); EC 2.7.1.137 (PIK3CA protein, human)
[Em] Mês de entrada:1803
[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/annonc/mdx047


  10 / 65726 MEDLINE  
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[PMID]:29348612
[Au] Autor:Wiemels JL; Walsh KM; de Smith AJ; Metayer C; Gonseth S; Hansen HM; Francis SS; Ojha J; Smirnov I; Barcellos L; Xiao X; Morimoto L; McKean-Cowdin R; Wang R; Yu H; Hoh J; DeWan AT; Ma X
[Ad] Endereço:Department of Epidemiology and Biostatistics, University of California San Francisco, 1450 3rd Street, San Francisco, CA, 94158, USA. joe.wiemels@ucsf.edu.
[Ti] Título:GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.
[So] Source:Nat Commun;9(1):286, 2018 01 18.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Childhood acute lymphoblastic leukemia (ALL) (age 0-14 years) is 20% more common in Latino Americans than non-Latino whites. We conduct a genome-wide association study in a large sample of 3263 Californian children with ALL (including 1949 of Latino heritage) and 3506 controls matched on month and year of birth, sex, and ethnicity, and an additional 12,471 controls from the Kaiser Resource for Genetic Epidemiology Research on Aging Cohort. Replication of the strongest genetic associations is performed in two independent datasets from the Children's Oncology Group and the California Childhood Leukemia Study. Here we identify new risk loci on 17q12 near IKZF3/ZPBP2/GSDMB/ORMDL3, a locus encompassing a transcription factor important for lymphocyte development (IKZF3), and at an 8q24 region known for structural contacts with the MYC oncogene. These new risk loci may impact gene expression via local (four 17q12 genes) or long-range (8q24) interactions, affecting function of well-characterized hematopoietic and growth-regulation pathways.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 17/genética
Cromossomos Humanos Par 8/genética
Predisposição Genética para Doença/genética
Estudo de Associação Genômica Ampla
Leucemia-Linfoma Linfoblástico de Células Precursoras/genética
[Mh] Termos MeSH secundário: Adolescente
California
Pré-Escolar
Feminino
Frequência do Gene
Predisposição Genética para Doença/etnologia
Hispano-Americanos/genética
Seres Humanos
Lactente
Recém-Nascido
Masculino
Polimorfismo de Nucleotídeo Único
Leucemia-Linfoma Linfoblástico de Células Precursoras/etnologia
Fatores de Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180120
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-02596-9



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