Base de dados : MEDLINE
Pesquisa : D08.811.913.555.400 [Categoria DeCS]
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  1 / 548 MEDLINE  
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[PMID]:28665588
[Au] Autor:Dunsirn MM; Thoden JB; Gilbert M; Holden HM
[Ad] Endereço:Department of Biochemistry, University of Wisconsin , Madison, Wisconsin 53706, United States.
[Ti] Título:Biochemical Investigation of Rv3404c from Mycobacterium tuberculosis.
[So] Source:Biochemistry;56(29):3818-3825, 2017 Jul 25.
[Is] ISSN:1520-4995
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The causative agent of tuberculosis, Mycobacterium tuberculosis, is a bacterium with a complex cell wall and a complicated life cycle. The genome of M. tuberculosis contains well over 4000 genes thought to encode proteins. One of these codes for a putative enzyme referred to as Rv3404c, which has attracted research attention as a potential virulence factor for over 12 years. Here we demonstrate that Rv3404c functions as a sugar N-formyltransferase that converts dTDP-4-amino-4,6-dideoxyglucose into dTDP-4-formamido-4,6-dideoxyglucose using N -formyltetrahydrofolate as the carbon source. Kinetic analyses demonstrate that Rv3404c displays a significant catalytic efficiency of 1.1 × 10 M s . In addition, we report the X-ray structure of a ternary complex of Rv3404c solved in the presence of N -formyltetrahydrofolate and dTDP-4-amino-4,6-dideoxyglucose. The final model of Rv3404c was refined to an overall R-factor of 16.8% at 1.6 Å resolution. The results described herein are especially intriguing given that there have been no published reports of N-formylated sugars associated with M. tuberculosis. The data thus provide a new avenue of research into this fascinating, yet deadly, organism that apparently has been associated with human infection since ancient times.
[Mh] Termos MeSH primário: Proteínas de Bactérias/química
Hidroximetil e Formil Transferases/química
Modelos Moleculares
Mycobacterium tuberculosis/enzimologia
Fatores de Virulência/química
[Mh] Termos MeSH secundário: Proteínas de Bactérias/metabolismo
Catálise
Cristalografia por Raios X
Desoxiaçúcares/química
Desoxiaçúcares/metabolismo
Formiltetra-Hidrofolatos/química
Formiltetra-Hidrofolatos/metabolismo
Hidroximetil e Formil Transferases/metabolismo
Cinética
Mycobacterium tuberculosis/patogenicidade
Nucleotídeos de Timina/química
Nucleotídeos de Timina/metabolismo
Fatores de Virulência/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bacterial Proteins); 0 (Deoxy Sugars); 0 (Formyltetrahydrofolates); 0 (Thymine Nucleotides); 0 (Virulence Factors); 0 (dTDP-4-amino-4,6-dideoxy-glucose); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170701
[St] Status:MEDLINE
[do] DOI:10.1021/acs.biochem.7b00506


  2 / 548 MEDLINE  
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[PMID]:28636341
[Au] Autor:Riegert AS; Chantigian DP; Thoden JB; Tipton PA; Holden HM
[Ad] Endereço:Department of Biochemistry, University of Wisconsin , Madison, Wisconsin 53706, United States.
[Ti] Título:Biochemical Characterization of WbkC, an N-Formyltransferase from Brucella melitensis.
[So] Source:Biochemistry;56(28):3657-3668, 2017 Jul 18.
[Is] ISSN:1520-4995
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:It has become increasingly apparent within the last several years that unusual N-formylated sugars are often found on the O-antigens of such Gram negative pathogenic organisms as Francisella tularensis, Campylobacter jejuni, and Providencia alcalifaciens, among others. Indeed, in some species of Brucella, for example, the O-antigen contains 1,2-linked 4-formamido-4,6-dideoxy-α-d-mannosyl groups. These sugars, often referred to as N-formylperosamine, are synthesized in pathways initiating with GDP-mannose. One of the enzymes required for the production of N-formylperosamine, namely, WbkC, was first identified in 2000 and was suggested to function as an N-formyltransferase. Its biochemical activity was never experimentally verified, however. Here we describe a combined structural and functional investigation of WbkC from Brucella melitensis. Four high resolution X-ray structures of WbkC were determined in various complexes to address its active site architecture. Unexpectedly, the quaternary structure of WbkC was shown to be different from that previously observed for other sugar N-formyltransferases. Additionally, the structures revealed a second binding site for a GDP molecule distinct from that required for GDP-perosamine positioning. In keeping with this additional binding site, kinetic data with the wild type enzyme revealed complex patterns. Removal of GDP binding by mutating Phe 142 to an alanine residue resulted in an enzyme variant displaying normal Michaelis-Menten kinetics. These data suggest that this nucleotide binding pocket plays a role in enzyme regulation. Finally, by using an alternative substrate, we demonstrate that WbkC can be utilized to produce a trideoxysugar not found in nature.
[Mh] Termos MeSH primário: Brucella melitensis/enzimologia
Hidroximetil e Formil Transferases/metabolismo
[Mh] Termos MeSH secundário: Sítios de Ligação
Brucella melitensis/química
Brucelose/microbiologia
Domínio Catalítico
Cristalografia por Raios X
Guanosina Difosfato/metabolismo
Hexosaminas/metabolismo
Seres Humanos
Hidroximetil e Formil Transferases/química
Cinética
Modelos Moleculares
Conformação Proteica
Especificidade por Substrato
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (4-formamido-4,6-dideoxymannose); 0 (Hexosamines); 146-91-8 (Guanosine Diphosphate); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170806
[Lr] Data última revisão:
170806
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.1021/acs.biochem.7b00494


  3 / 548 MEDLINE  
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[PMID]:28296761
[Au] Autor:Qiu Q; Huang J; Lin Y; Shu X; Fan H; Tu Z; Zhou Y; Xiao C
[Ad] Endereço:aInstitute of Clinical Pharmacology, Beijing Anzhen Hospital, Capital Medical University bInstitute of Clinical Medicine, China-Japan Friendship Hospital cBeijing University of Chinese Medicine dDepartment of Rheumatology, China-Japan Friendship Hospital, Beijing eDepartment of Gastroenterology, People's Hospital of Yichun, Jiangxi Yichun fDepartment of Rheumatology, Yili Kazak Autonomous Prefecture Hospital of Traditional Chinese Medicine, Xinjiang Yining, China gDepartment of Dermatology and Skin Science, University of British Columbia hMolecular Medicine Lab and Chieng Genomics Center, Vancouver Coastal Health Research Institute, Vancouver, BC, Canada.
[Ti] Título:Polymorphisms and pharmacogenomics for the toxicity of methotrexate monotherapy in patients with rheumatoid arthritis: A systematic review and meta-analysis.
[So] Source:Medicine (Baltimore);96(11):e6337, 2017 Mar.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Methotrexate (MTX) is widely used and considered a first-line disease modifying antirheumatic drug (DMARD) for the treatment of rheumatoid arthritis (RA). However, 10% to 30% of patients discontinue therapy within a year of starting the treatment, usually because of undesirable side effects. Many of the relevant genes have been investigated to estimate the association between gene polymorphisms and MTX toxicity in RA patients, although inconsistent results have been reported. METHODS: We searched EMBASE and PubMed in February 2016 for polymorphisms and pharmacogenomics study of the toxicity of MTX monotherapy in RA patients. The meta-analysis was stratified by whether genetic variants associated with MTX toxicity. RESULTS: A total of 42 publications that included 28 genes with 88 gene SNPs associated with the transporters, enzymes, and metabolites of MTX or the progression of RA were included in the SR, and 31 studies were included in 7 meta-analyses. The meta-analysis showed a significant association between the toxicity of MTX and the RFC-1 80G > A (rs1051266) polymorphism in the European RA patients. CONCLUSION: RFC-1 80G > A (rs1051266) polymorphism was associated with MTX toxicity, and larger and more stringent study designs may provide more accurate results for the effect of these SNPs on the MTX toxicity.
[Mh] Termos MeSH primário: Antirreumáticos/efeitos adversos
Artrite Reumatoide/tratamento farmacológico
Metotrexato/efeitos adversos
Proteína de Replicação C/genética
[Mh] Termos MeSH secundário: 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
Subfamília B de Transportador de Cassetes de Ligação de ATP/genética
Antirreumáticos/uso terapêutico
Biomarcadores
Ferredoxina-NADP Redutase/genética
Seres Humanos
Hidroximetil e Formil Transferases/genética
Metotrexato/uso terapêutico
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Complexos Multienzimáticos/genética
Nucleotídeo Desaminases/genética
Farmacogenética
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
0 (ABCB1 protein, human); 0 (ATP Binding Cassette Transporter, Sub-Family B); 0 (Antirheumatic Agents); 0 (Biomarkers); 0 (Multienzyme Complexes); 0 (RFC1 protein, human); 0 (inosine monophosphate synthase); EC 1.18.1.- (methionine synthase reductase); EC 1.18.1.2 (Ferredoxin-NADP Reductase); EC 1.5.1.20 (MTHFR protein, human); EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); EC 2.1.1.13 (5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase); EC 2.1.1.13. (MTR protein, human); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases); EC 3.5.4.- (Nucleotide Deaminases); EC 3.6.4.- (Replication Protein C); YL5FZ2Y5U1 (Methotrexate)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170316
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000006337


  4 / 548 MEDLINE  
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[PMID]:28267080
[Au] Autor:Park JA; Shin HY
[Ad] Endereço:*Department of Pediatrics, Haeundae Paik Hospital, Inje University College of Medicine, Busan †Department of Pediatrics, Division of Hematology-Oncology, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
[Ti] Título:ATIC Gene Polymorphism and Histologic Response to Chemotherapy in Pediatric Osteosarcoma.
[So] Source:J Pediatr Hematol Oncol;39(5):e270-e274, 2017 Jul.
[Is] ISSN:1536-3678
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Accumulating evidence indicates that polymorphisms in folate pathway genes play a role in response to methotrexate (MTX) treatment in various diseases. This study explored the influence of these genetic polymorphisms on treatment outcome in pediatric osteosarcoma. Blood and tissue samples from 48 osteosarcoma patients were obtained, and the following polymorphisms were analyzed; SLC19A1 80G>A, DHFR 829C>T, MTHFR 677C>T, MTHFR 1298A>C, and ATIC 347C>G. We evaluated associations between these candidate gene polymorphisms and treatment outcome, including histologic response and event-free and overall survival, of patients treated with high-dose MTX. Patients with ATIC 347C>G exhibited a good histologic response to chemotherapy (odds ratio, 0.13; 95% confidence interval, 0.017-0.978; P=0.048). However, none of these single nucleotide polymorphisms we examined affected event-free survival or overall survival rates of the patients. Even though the role of single nucleotide polymorphisms of ATIC in chemotherapy-induced tumor necrosis has not been investigated yet, the ATIC 347C>G polymorphism may influence the levels of adenosine after MTX treatment, which may affect the histologic response of osteosarcoma. This relationship warrants validation in a larger, prospective cohort study.
[Mh] Termos MeSH primário: Hidroximetil e Formil Transferases/genética
Complexos Multienzimáticos/genética
Nucleotídeo Desaminases/genética
Osteossarcoma/tratamento farmacológico
Osteossarcoma/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Adenosina/sangue
Adolescente
Antineoplásicos/uso terapêutico
Criança
Pré-Escolar
Intervalo Livre de Doença
Feminino
Seres Humanos
Masculino
Metotrexato/uso terapêutico
Metilenotetra-Hidrofolato Redutase (NADPH2)/genética
Osteossarcoma/mortalidade
Proteína Carregadora de Folato Reduzido/genética
Taxa de Sobrevida
Tetra-Hidrofolato Desidrogenase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Multienzyme Complexes); 0 (Reduced Folate Carrier Protein); 0 (SLC19A1 protein, human); 0 (inosine monophosphate synthase); EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2)); EC 1.5.1.3 (Tetrahydrofolate Dehydrogenase); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases); EC 3.5.4.- (Nucleotide Deaminases); K72T3FS567 (Adenosine); YL5FZ2Y5U1 (Methotrexate)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170308
[St] Status:MEDLINE
[do] DOI:10.1097/MPH.0000000000000802


  5 / 548 MEDLINE  
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[PMID]:27659940
[Au] Autor:Jiang YC; Kuang LL; Sun SN; Duan WY; Qiao B; Wang HY
[Ad] Endereço:State Key Laboratory of Genetic Engineering, Ministry of Education Key Laboratory of Contemporary Anthropology, Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University.
[Ti] Título:Association of genetic polymorphisms of de novo nucleotide biosynthesis with increased CHD susceptibility in the northern Chinese population.
[So] Source:Clin Genet;91(5):748-755, 2017 May.
[Is] ISSN:1399-0004
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population, which has been reported with lower plasma folate levels. Nine tagSNPs of four genes (GART, ATIC, MTHFD1 and SHMT1) in de novo nucleotide biosynthesis were sequenced in 802 sporadic CHD patients and 1093 controls from two Han Chinese populations, located in north China (Shandong) and South China (Shanghai), respectively. Six SNPs were found to be significantly associated with CHDs or septation defects only in the Shandong population dataset, but none displayed significant association with any CHDs in the Shanghai population dataset as well as in the combined dataset. We also showed that the minor A allele of rs7279549 in GART reduced transcriptional activity and displayed lower affinity for unknown transcription factor(s), demonstrating the allele is a functional risk factor for CHD in Shandong population. Our study indicates that dysregulation of de novo nucleotide biosynthesis pathway may conditionally contribute to CHD pathogenesis in northern Chinese.
[Mh] Termos MeSH primário: Carbono-Nitrogênio Ligases/genética
Glicina Hidroximetiltransferase/genética
Cardiopatias Congênitas/genética
Hidroximetil e Formil Transferases/genética
Metilenotetra-Hidrofolato Desidrogenase (NADP)/genética
Antígenos de Histocompatibilidade Menor/genética
Complexos Multienzimáticos/genética
Nucleotídeo Desaminases/genética
Fosforribosilglicinamido Formiltransferase/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Alelos
Grupo com Ancestrais do Continente Asiático/genética
Estudos de Casos e Controles
Predisposição Genética para Doença
Seres Humanos
Nucleotídeos/biossíntese
Nucleotídeos/genética
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Minor Histocompatibility Antigens); 0 (Multienzyme Complexes); 0 (Nucleotides); 0 (Transcription Factors); 0 (inosine monophosphate synthase); EC 1.5.1.5 (MTHFD1 protein, human); EC 1.5.1.5 (Methylenetetrahydrofolate Dehydrogenase (NADP)); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases); EC 2.1.2.1 (Glycine Hydroxymethyltransferase); EC 2.1.2.1 (SHMT protein, human); EC 2.1.2.2 (Phosphoribosylglycinamide Formyltransferase); EC 3.5.4.- (Nucleotide Deaminases); EC 6.3.- (Carbon-Nitrogen Ligases); EC 6.3.4.13 (GART protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170602
[Lr] Data última revisão:
170602
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160924
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12874


  6 / 548 MEDLINE  
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[PMID]:27885916
[Au] Autor:Kurzawski M; Malinowski D; Szarmach N; Nowak A; Goryniak A; Pawlik A; Drozdzik M
[Ad] Endereço:Department of Experimental & Clinical Pharmacology, Pomeranian Medical University, Powstancow Wlkp. 72, 70-111 Szczecin, Poland.
[Ti] Título:ATIC missense variant affects response to methotrexate treatment in rheumatoid arthritis patients.
[So] Source:Pharmacogenomics;17(18):1971-1978, 2016 Dec.
[Is] ISSN:1744-8042
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: The study was aimed at investigation of several gene variants of folate pathway enzymes for their potential association with methotrexate (MTX) treatment response in patients with rheumatoid arthritis. PATIENTS & METHODS: Four hundred and twenty two Caucasian patients were classified as good or poor responders, and subsequently genotyped for common SNPs in DHFR, FPGS and ATIC genes. RESULTS: No significant differences were observed in case of DHFR and FGPS SNPs. As for ATIC rs2372536 (Thr116Ser), GG minor genotype was significantly associated with good response to MTX (OR: 2.40; 95% CI: 1.30-4.42; p = 0.005), which was confirmed by multivariate analysis. CONCLUSION: The results of the study suggest that ATIC missense rs2372536 SNP may influence response to MTX therapy in rheumatoid arthritis patients.
[Mh] Termos MeSH primário: Artrite Reumatoide/tratamento farmacológico
Hidroximetil e Formil Transferases/genética
Metotrexato/uso terapêutico
Complexos Multienzimáticos/genética
Nucleotídeo Desaminases/genética
Polimorfismo de Nucleotídeo Único
[Mh] Termos MeSH secundário: Adulto
Idoso
Artrite Reumatoide/genética
Feminino
Seres Humanos
Masculino
Meia-Idade
Tetra-Hidrofolato Desidrogenase/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Multienzyme Complexes); 0 (inosine monophosphate synthase); EC 1.5.1.3 (Tetrahydrofolate Dehydrogenase); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases); EC 3.5.4.- (Nucleotide Deaminases); YL5FZ2Y5U1 (Methotrexate)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170830
[Lr] Data última revisão:
170830
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161126
[St] Status:MEDLINE


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[PMID]:27393152
[Au] Autor:Oates A; Brennan J; Slavotinek A; Alsadah A; Chow D; Lee MM
[Ad] Endereço:Division of Nephrology, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA. aris.oates@ucsf.edu.
[Ti] Título:Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease.
[So] Source:Pediatr Transplant;20(7):1000-1003, 2016 Nov.
[Is] ISSN:1399-3046
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Moyamoya disease is a chronic cerebrovascular disorder with progressive stenosis. We describe a four-yr-old female with features of moyamoya disease referred to our center for kidney transplant evaluation with ESRD secondary to presumed renal dysplasia along with concern for cerebral vascular anomalies. With her constellation of organ involvement, a genetic workup revealed a homozygous, frameshift mutation in the mitochondrial methionyl-tRNA formyltransferase gene. Given her vascular anomalies and evidence of prior infarcts seen on cerebral imaging, it was felt that her risk of future stroke events was high and that hypotension or intravascular volume depletion would further exacerbate this risk. In hopes of improving her tenuous cerebral perfusion, she underwent a bilateral temporal craniotomy for superficial temporal artery to middle cerebral artery bypass. We highlight the challenges faced in a child with ESRD and kidney transplantation when cerebral vasculature is compromised. A multidisciplinary approach is critical in determining the need for a revascularization procedure prior to transplant and to help reduce the risk of ischemic or hemorrhagic events in this patient population.
[Mh] Termos MeSH primário: Hidroximetil e Formil Transferases/genética
Falência Renal Crônica/cirurgia
Falência Renal Crônica/terapia
Transplante de Rim
Doença de Moyamoya/genética
[Mh] Termos MeSH secundário: Circulação Cerebrovascular
Pré-Escolar
Hibridização Genômica Comparativa
Feminino
Mutação da Fase de Leitura
Homozigoto
Seres Humanos
Artéria Cerebral Média/fisiopatologia
Mutação
Perfusão
Artérias Temporais/fisiopatologia
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
EC 2.1.2.- (Hydroxymethyl and Formyl Transferases); EC 2.1.2.9 (methionyl-tRNA formyltransferase)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160710
[St] Status:MEDLINE
[do] DOI:10.1111/petr.12758


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[PMID]:27379764
[Au] Autor:Lee YH; Bae SC
[Ad] Endereço:Division of Rheumatology, Department of Internal Medicine, Korea University College of Medicine, Korea University Anam Hospital, 73, Inchon-ro, Seongbuk-gu, Seoul, Korea. lyhcgh@korea.ac.kr.
[Ti] Título:Association of the ATIC 347 C/G polymorphism with responsiveness to and toxicity of methotrexate in rheumatoid arthritis: a meta-analysis.
[So] Source:Rheumatol Int;36(11):1591-1599, 2016 Nov.
[Is] ISSN:1437-160X
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:This study investigated whether the 5-aminoimidazole-4-carboxamide ribonucleotide transformylase gene (ATIC) 347 C/G polymorphism can predict the response to or toxicity of methotrexate (MTX) in patients with rheumatoid arthritis (RA). We conducted a meta-analysis of studies on the association between ATIC 347 C/G polymorphism and non-responsiveness to or toxicity of MTX in RA patients, using PUBMED, EMBASE, and COCHRANE. Nine comparative studies from 6 articles including 1056 RA patients met our inclusion criteria. This final group of studies comprised 5 studies on response to MTX and 4 on toxicity of MTX in RA patients in relation to the ATIC 347 C/G polymorphism status. Meta-analysis showed association between the ATIC 347 GG + GC genotype and non-response to MTX therapy (OR = 1.572, 95 % CI 1.146-2.156, p = 0.005). Stratification by ethnicity indicated significant association between the ATIC 347 GG + GC genotype and non-response to MTX in Caucasians (OR = 1.884, 95 % CI 1.236-2.873, p = 0.003), but not in Asian patients. Similarly, associations were noted for the ATIC 347 C/G polymorphism through analysis using recessive and overdominant models. Meta-analysis revealed association between the ATIC 347 GG + GC genotype and MTX toxicity (OR = 1.454 95 % CI 1.034-2.044, p = 0.032). Stratification by ethnicity indicated significant association between the ATIC 347 GG + GC genotype and MTX toxicity in Caucasians (OR = 1.741, 95 % CI 1.080-2.806, p = 0.023), but not in Asian patients. The ATIC 347 C/G polymorphism may be associated with non-responsiveness to and or toxicity of MTX in Caucasian RA patients.
[Mh] Termos MeSH primário: Antirreumáticos/uso terapêutico
Artrite Reumatoide/tratamento farmacológico
Hidroximetil e Formil Transferases/genética
Metotrexato/uso terapêutico
Complexos Multienzimáticos/genética
Nucleotídeo Desaminases/genética
Polimorfismo Genético
[Mh] Termos MeSH secundário: Antirreumáticos/efeitos adversos
Artrite Reumatoide/genética
Estudos de Associação Genética
Seres Humanos
Metotrexato/efeitos adversos
Farmacogenética
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Nm] Nome de substância:
0 (Antirheumatic Agents); 0 (Multienzyme Complexes); 0 (inosine monophosphate synthase); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases); EC 3.5.4.- (Nucleotide Deaminases); YL5FZ2Y5U1 (Methotrexate)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171005
[Lr] Data última revisão:
171005
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160706
[St] Status:MEDLINE


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[PMID]:27013623
[Au] Autor:Mori S
[Ad] Endereço:Center for the Promotion of Clinical Investigation, Tokyo Metropolitan Geriatric Hospital, Japan.
[Ti] Título:[Genome-wide association study for Osteoporosis].
[So] Source:Clin Calcium;26(4):537-43, 2016 Apr.
[Is] ISSN:0917-5857
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Numerous studies on genetic risks for osteoporosis have been performed to date, mainly using genome-wide association studies(GWAS)for assessing bone mineral density(BMD)as a quantitative trait, and recent large-scale meta-analyses of GWAS have identified a number of single nucleotide polymorphisms(SNPs)associated with low BMD or increased risk of fracture. Several of these SNPs cluster within the RANK signaling, mesenchymal stem cell differentiation, endochondral ossification, and Wnt signaling pathways. GWAS performed in Japanese populations also identified novel osteoporosis susceptibility genes such as FONG, WDSOF1 and GPR98. It is estimated that previously identified loci associated with BMD in total explain ~5%of the genetic variance for this trait. Some genetic risk scores based on BMD-decreasing alleles of the SNPs have been developed, however, their prediction ability for the risk of osteoporosis and fracture appears to be limited when BMD is known.
[Mh] Termos MeSH primário: Estudo de Associação Genômica Ampla
Osteoporose/genética
[Mh] Termos MeSH secundário: Densidade Óssea
Seres Humanos
Hidroximetil e Formil Transferases/genética
Receptores Acoplados a Proteínas-G/genética
Fatores de Risco
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (GPR98 protein, human); 0 (Receptors, G-Protein-Coupled); EC 2.1.2.- (FONG protein, human); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:160325
[Lr] Data última revisão:
160325
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160326
[St] Status:MEDLINE
[do] DOI:CliCa1604537543


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[PMID]:26799664
[Au] Autor:Muralidharan N; Mariaselvam CM; Jain VK; Gulati R; Negi VS
[Ad] Endereço:Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Puducherry, India.
[Ti] Título:ATIC 347C>G gene polymorphism may be associated with methotrexate-induced adverse events in south Indian Tamil rheumatoid arthritis.
[So] Source:Pharmacogenomics;17(3):241-8, 2016 Feb.
[Is] ISSN:1744-8042
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: To find the association of ATIC 347C>G gene polymorphism with methotrexate (MTX) treatment response and MTX-induced adverse events in south Indian Tamil patients with rheumatoid arthritis. PATIENTS & METHODS: A total of 319 rheumatoid arthritis and 310 healthy controls were recruited for the study and ATIC 347C>G gene polymorphism was analyzed by PCR-RFLP method. RESULTS: The genotype and allele frequencies of ATIC 347 C>G SNP did not differ between good and nonresponders and hence this SNP was not found to be associated with MTX treatment response. However, the ATIC 347 GG genotype (p = 0.02; odds ratio [OR]: 4.46; 95% CI: 1.28-15.52) and mutant G allele was associated with MTX-induced gastrointestinal adverse events (p = 0.01; OR: 2.60; 95% CI: 1.27-5.35). CONCLUSION:  ATIC 347C>G gene polymorphism may be associated with the development of MTX induced gastrointestinal adverse events.
[Mh] Termos MeSH primário: Antirreumáticos/efeitos adversos
Artrite Reumatoide/tratamento farmacológico
Hidroximetil e Formil Transferases/genética
Metotrexato/efeitos adversos
Complexos Multienzimáticos/genética
Nucleotídeo Desaminases/genética
[Mh] Termos MeSH secundário: Adulto
Artrite Reumatoide/etnologia
Artrite Reumatoide/genética
Estudos de Casos e Controles
Grupos Étnicos
Feminino
Estudos de Associação Genética
Seres Humanos
Índia
Masculino
Mutação
Polimorfismo de Nucleotídeo Único
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Antirheumatic Agents); 0 (Multienzyme Complexes); 0 (inosine monophosphate synthase); EC 2.1.2.- (Hydroxymethyl and Formyl Transferases); EC 3.5.4.- (Nucleotide Deaminases); YL5FZ2Y5U1 (Methotrexate)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:160130
[Lr] Data última revisão:
160130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160123
[St] Status:MEDLINE
[do] DOI:10.2217/pgs.15.170



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