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  1 / 105 MEDLINE  
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[PMID]:27899376
[Au] Autor:Nakayama A; Nakaoka H; Yamamoto K; Sakiyama M; Shaukat A; Toyoda Y; Okada Y; Kamatani Y; Nakamura T; Takada T; Inoue K; Yasujima T; Yuasa H; Shirahama Y; Nakashima H; Shimizu S; Higashino T; Kawamura Y; Ogata H; Kawaguchi M; Ohkawa Y; Danjoh I; Tokumasu A; Ooyama K; Ito T; Kondo T; Wakai K; Stiburkova B; Pavelka K; Stamp LK; Dalbeth N; Sakurai Y; Suzuki H; Hosoyamada M; Fujimori S; Yokoo T; Hosoya T; Inoue I; Takahashi A; Kubo M; Ooyama H; Shimizu T; Ichida K; Shinomiya N; Merriman TR; Matsuo H; Eurogout Consortium; Eurogout Consortium
[Ad] Endereço:Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, Tokorozawa, Saitama, Japan.
[Ti] Título:GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
[So] Source:Ann Rheum Dis;76(5):869-877, 2017 05.
[Is] ISSN:1468-2060
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. METHODS: Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. RESULTS: In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (p<5.0×10 ): urate transporter genes ( and ) and for all gout cases, and and for the renal underexcretion gout subtype. While encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and was associated with gout in all cases. A meta-analysis of the three populations revealed to be associated with gout at a genome-wide level of significance (p =3.58×10 ). CONCLUSIONS: Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia.
[Mh] Termos MeSH primário: Predisposição Genética para Doença
Estudo de Associação Genômica Ampla
Gota/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Grupo com Ancestrais do Continente Asiático/genética
Estudos de Casos e Controles
Proteínas de Transporte de Cátions/genética
Grupo com Ancestrais do Continente Europeu/genética
Loci Gênicos
Genótipo
Gota/classificação
Histonas/genética
Seres Humanos
Japão
Masculino
Meia-Idade
Grupo com Ancestrais Oceânicos/genética
Transportadores de Ânions Orgânicos/genética
Proteínas de Transporte de Cátions Orgânicos/genética
Polimorfismo de Nucleotídeo Único
Proteínas/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; VALIDATION STUDIES
[Nm] Nome de substância:
0 (Cation Transport Proteins); 0 (FAM35A protein, human); 0 (Histones); 0 (NIPAL1 protein, human); 0 (Organic Anion Transporters); 0 (Organic Cation Transport Proteins); 0 (Proteins); 0 (SLC17A1 protein, human); 0 (SLC22A12 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170801
[Lr] Data última revisão:
170801
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161201
[St] Status:MEDLINE
[do] DOI:10.1136/annrheumdis-2016-209632


  2 / 105 MEDLINE  
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[PMID]:27906618
[Au] Autor:Sakiyama M; Matsuo H; Nagamori S; Ling W; Kawamura Y; Nakayama A; Higashino T; Chiba T; Ichida K; Kanai Y; Shinomiya N
[Ad] Endereço:a Department of Integrative Physiology and Bio-Nano Medicine , National Defense Medical College , Tokorozawa , Saitama , Japan.
[Ti] Título:Expression of a human NPT1/SLC17A1 missense variant which increases urate export.
[So] Source:Nucleosides Nucleotides Nucleic Acids;35(10-12):536-542, 2016 Dec.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Human sodium-dependent phosphate cotransporter type 1 (NPT1/SLC17A1) is one of the urate transporters in the kidney. Our recent study revealed that a common missense variant, I269T (rs1165196), of NPT1 decreases the risk of renal underexcretion gout. Moreover, we demonstrated that human NPT1 is localized to the apical membrane of the renal proximal tubule, and that I269T is the gain-of-function variant which increases the NPT1-mediated urate export. However, the mechanism by which I269T variant increases the urate export remains to be clarified. Thus, we performed immunostaining and functional analysis of human NPT1 using the Xenopus oocyte expression system. For comparison of human NPT1 expression levels of oocyte membrane between 269I (wild type) and 269T (variant), immunostaining was performed with anti-human NPT1 antibodies. As a result, we showed that NPT1 I269T variant did not change the human NPT1 membrane expression levels, although NPT1 I269T variant increased the urate transport compared with NPT1 wild type. Combined with the previous report that I269T variant did not induce Km changes but increased the Vmax of urate transport in a proteoliposome system, our findings suggest that I269T variant increases NPT1-mediated urate export without increase of NPT1 expression levels on the membrane. Thus, I269T, a common missense variant of NPT1, might have faster conformation changes than NPT1 wild type in terms of the alternating-access model of transporters, and increases renal urate export in humans.
[Mh] Termos MeSH primário: Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
Ácido Úrico/metabolismo
[Mh] Termos MeSH secundário: Animais
Transporte Biológico
Células Cultivadas
Estudos de Associação Genética
Seres Humanos
Mutação de Sentido Incorreto
Oócitos/metabolismo
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/metabolismo
Xenopus laevis
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (SLC17A1 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I); 268B43MJ25 (Uric Acid)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170317
[Lr] Data última revisão:
170317
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161202
[St] Status:MEDLINE


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[PMID]:26852655
[Au] Autor:Koller DL; Imel EA; Lai D; Padgett LR; Acton D; Gray A; Peacock M; Econs MJ; Foroud T
[Ad] Endereço:Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA. Electronic address: dkoller@iu.edu.
[Ti] Título:Genome-wide association study of serum iron phenotypes in premenopausal women of European descent.
[So] Source:Blood Cells Mol Dis;57:50-3, 2016 Mar.
[Is] ISSN:1096-0961
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A genome-wide association study was performed on 1130 premenopausal women to detect common variants associated with three serum iron-related phenotypes. Total iron binding capacity was strongly associated (p=10(-14)) with variants in and near the TF gene (transferrin), the serum iron transporting protein, and with variants in HFE (p=4×10(-7)), which encodes the human hemochromatosis gene. Association was also detected between percent iron saturation (p=10(-8)) and variants in the chromosome 6 region containing both HFE and SLC17A2, which encodes a phosphate transport protein. No significant associations were detected with serum iron, but variants in HFE were suggestive (p=10(-6)). Our results corroborate prior studies in older subjects and demonstrate that the association of these genetic variants with iron phenotypes can be detected in premenopausal women.
[Mh] Termos MeSH primário: Hemocromatose/genética
Antígenos de Histocompatibilidade Classe I/genética
Ferro/sangue
Proteínas de Membrana/genética
Pré-Menopausa/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
Transferrina/genética
[Mh] Termos MeSH secundário: Adulto
Cromossomos Humanos Par 6/química
Grupo com Ancestrais do Continente Europeu
Feminino
Expressão Gênica
Estudo de Associação Genômica Ampla
Hemocromatose/sangue
Hemocromatose/etnologia
Hemocromatose/patologia
Proteína da Hemocromatose
Seres Humanos
Meia-Idade
Fenótipo
Polimorfismo Genético
Pré-Menopausa/sangue
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (HFE protein, human); 0 (Hemochromatosis Protein); 0 (Histocompatibility Antigens Class I); 0 (Membrane Proteins); 0 (SLC17A2 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I); 0 (Transferrin); E1UOL152H7 (Iron)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:170302
[Lr] Data última revisão:
170302
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160209
[St] Status:MEDLINE


  4 / 105 MEDLINE  
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[PMID]:26663070
[Au] Autor:Wang T; Su Y; Wang Z; Ma Q; Yao H
[Ad] Endereço:Department of Maternal, Child and Adolescent Health, School of Public Health,Xinjiang Medical University, Urumqi, Xinjiang 830011, P.R. China. yaohua01@163.com.
[Ti] Título:[Polymorphisms of SLC17A1 gene and their interaction with alcohol drinking among Uygur patients with hyperuricemia].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;32(6):881-5, 2015 Dec.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To investigate the correlation between polymorphisms of uric acid transporter related gene SLC17A1 and hyperuricemia (HUA) among ethnic Uygur patients from Xinjiang. METHODS: A case-control study was carried out, which enrolled 1036 patients with hyperuricemia and 1031 healthy controls. Two single nucleotide polymorphisms (SNPs) of the SLC17A1 gene were determined with Sequenom MassARRAY. Crossover analysis was used to assess the effect of interaction between above SNPs and alcohol drinking on uric acid level. RESULTS: Genotypic and allelic frequencies of the SLC17A1 gene at the two loci in the two groups were compared. The CT genotype of the rs9467596 locus and TC genotype of the rs2096386 locus showed a higher risk for hyperuricemia (OR=1.334, 95%CI:1.082-1.644; OR=1.242, 95%CI:1.015-1.519, respectively). Crossover analysis also revealed that the SLC17A1 rs2096386 polymorphism has a positive interaction with alcohol drinking in a multiplication model (ORint=1.21, P<0.05, OR>1). CONCLUSION: SNP rs9467596 and rs2096386 of the SLC17A1 gene may have a correlation between hyperuricemia and alcohol drinking among Uygur patients.
[Mh] Termos MeSH primário: Consumo de Bebidas Alcoólicas/genética
Predisposição Genética para Doença/genética
Hiperuricemia/genética
Polimorfismo de Nucleotídeo Único
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Consumo de Bebidas Alcoólicas/etnologia
Alelos
Grupo com Ancestrais do Continente Asiático/genética
China
Grupos Étnicos/genética
Feminino
Frequência do Gene
Predisposição Genética para Doença/etnologia
Genótipo
Seres Humanos
Hiperuricemia/etnologia
Masculino
Meia-Idade
Razão de Chances
Fatores de Risco
Adulto Jovem
[Pt] Tipo de publicação:ENGLISH ABSTRACT; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (SLC17A1 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:151215
[Lr] Data última revisão:
151215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151215
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2015.06.028


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[PMID]:26524967
[Au] Autor:Koyama T; Matsui D; Kuriyama N; Ozaki E; Tanaka K; Oze I; Hamajima N; Wakai K; Okada R; Arisawa K; Mikami H; Shimatani K; Hirata A; Takashima N; Suzuki S; Nagata C; Kubo M; Tanaka H
[Ad] Endereço:Department of Epidemiology for Community Health and Medicine, Kyoto Prefectural University of Medicine, Kyoto, Japan.
[Ti] Título:Genetic variants of SLC17A1 are associated with cholesterol homeostasis and hyperhomocysteinaemia in Japanese men.
[So] Source:Sci Rep;5:15888, 2015 Nov 03.
[Is] ISSN:2045-2322
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hyperuricaemia is an undisputed and highly predictive biomarker for cardiovascular risk. SLC17A1, expressed in the liver and kidneys, harbours potent candidate single nucleotide polymorphisms that decrease uric acid levels. Therefore, we examined SLC17A1 polymorphisms (rs1165196, rs1179086, and rs3757131), which might suppress cardiovascular risk factors and that are involved in liver functioning, via a large-scale pooled analysis of the Japanese general population in a cross-sectional study. Using data from the Japan Multi-Institutional Collaborative Cohort Study, we identified 1842 participants of both sexes, 35-69-years-old, having the requisite data, and analysed their SLC17A1 genotypes. In men, logistic regression analyses revealed that minor alleles in SLC17A1 polymorphisms (rs1165196 and rs3757131) were associated with a low-/high-density lipoprotein cholesterol ratio >2.0 (rs1165196: odds ratio [OR], 0.703; 95% confidence interval [CI], 0.536-0.922; rs3757131: OR, 0.658; 95% CI, 0.500-0.866), and with homocysteine levels of >10.0 nmol/mL (rs1165196: OR, 0.544; 95% CI, 0.374-0.792; rs3757131: OR, 0.509; 95% CI, 0.347-0.746). Therefore, these polymorphisms had dominant negative effects on cholesterol homeostasis and hyperhomocysteinaemia, in men, independent of alcohol consumption, physical activity, or daily energy and nutrition intake. Thus, genetic variants of SLC17A1 are potential biomarkers for altered cholesterol homeostasis and hyperhomocysteinaemia in Japanese men.
[Mh] Termos MeSH primário: Colesterol/metabolismo
Predisposição Genética para Doença/genética
Homeostase
Hiper-Homocisteinemia/genética
Polimorfismo de Nucleotídeo Único
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Grupo com Ancestrais do Continente Asiático/genética
HDL-Colesterol/metabolismo
LDL-Colesterol/metabolismo
Estudos de Coortes
Estudos Transversais
Feminino
Frequência do Gene
Predisposição Genética para Doença/etnologia
Genótipo
Seres Humanos
Hiper-Homocisteinemia/etnologia
Japão
Modelos Logísticos
Masculino
Meia-Idade
Fatores de Risco
Fatores Sexuais
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Cholesterol, HDL); 0 (Cholesterol, LDL); 0 (SLC17A1 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I); 97C5T2UQ7J (Cholesterol)
[Em] Mês de entrada:1609
[Cu] Atualização por classe:151120
[Lr] Data última revisão:
151120
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151104
[St] Status:MEDLINE
[do] DOI:10.1038/srep15888


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[PMID]:26290326
[Au] Autor:Zhou ZW; Cui LL; Han L; Wang C; Song ZJ; Shen JW; Li ZQ; Chen JH; Wen ZJ; Wang XM; Shi YY; Li CG
[Ad] Endereço:Shandong Gout Clinical Medical Center, The Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, 266003, China. zhouzhaoweiqd@hotmail.com.
[Ti] Título:Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.
[So] Source:BMC Med Genet;16:66, 2015 Aug 20.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Gout is a common arthritic disease resulting from elevated serum uric acid (SUA) level. A large meta-analysis including 28,141 individuals identified nine single nucleotide polymorphisms (SNPs) associated with altered SUA level in a Caucasian population. However, raised SUA level alone is not sufficient for the development of gout arthritis and most of these SNPs have not been studied in a Han Chinese population. Here, we performed a case-control association analysis to investigate the relationship between these SUA correlated SNPs and gout arthritis in Han Chinese. METHODS: A total of 622 ascertained gout p9atients and 917 healthy controls were genotyped. Genome-wide significant SNPs, rs12129861, rs780094, rs734553, rs742132, rs1183201, rs12356193, rs17300741 and rs505802 in the previous SUA study, were selected for our analysis. RESULTS: No deviation from the Hardy-Weinberg equilibrium was observed either in the case or control cohorts (corrected p > 0.05). Three SNPs, rs780094 (located in GCKR, corrected p = 1.78E(-4), OR = 0.723), rs1183201 (located in SLC17A1, corrected p = 1.39E(-7), OR = 0.572) and rs505802 (located in SLC22A12, corrected p = 0.007, OR = 0.747), were significantly associated with gout on allelic level independent of potential cofounding traits. While the remaining SNPs were not replicated. We also found significant associations of uric acid concentrations with these three SNPs (rs780094 in GCKR, corrected p = 3.94E(-5); rs1183201 in SLC17A1, corrected p = 0.005; rs505802 in SLC22A12, corrected p = 0.003) and of triglycerides with rs780094 (located in GCKR, corrected p = 2.96E(-4)). Unfortunately, SNP-SNP interactions for these three significant SNPs were not detected (rs780094 vs rs1183201, p = 0.402; rs780094 vs rs505802, p = 0.434; rs1183201 vs rs505802, p = 0.143). CONCLUSIONS: Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs505802 in SLC22A12 were confirmed to be associated with gout arthritis and uric acid concentrations in Han Chinese males. Considering genetic differences among populations and complicated pathogenesis of gout arthritis, more validating tests in independent populations and relevant functional experiments are suggested in future.
[Mh] Termos MeSH primário: Proteínas Adaptadoras de Transdução de Sinal/genética
Grupo com Ancestrais do Continente Asiático/genética
Gota/genética
Transportadores de Ânions Orgânicos/genética
Proteínas de Transporte de Cátions Orgânicos/genética
Fenótipo
Polimorfismo de Nucleotídeo Único/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Técnicas de Genotipagem
Gota/etnologia
Seres Humanos
Modelos Logísticos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (GCKR protein, human); 0 (Organic Anion Transporters); 0 (Organic Cation Transport Proteins); 0 (SLC17A1 protein, human); 0 (SLC22A12 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I)
[Em] Mês de entrada:1510
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150821
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-015-0208-8


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[PMID]:25972451
[Au] Autor:Togawa N; Juge N; Miyaji T; Hiasa M; Omote H; Moriyama Y
[Ad] Endereço:Department of Membrane Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan;
[Ti] Título:Wide expression of type I Na+-phosphate cotransporter 3 (NPT3/SLC17A2), a membrane potential-driven organic anion transporter.
[So] Source:Am J Physiol Cell Physiol;309(2):C71-80, 2015 Jul 15.
[Is] ISSN:1522-1563
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Membrane potential (Δψ)-driven and Cl(-)-dependent organic anion transport is a primary function of the solute carrier family 17 (SLC17) transporter family. Although the transport substrates and physiological relevance of the major members are well understood, SLC17A2 protein known to be Na(+)-phosphate cotransporter 3 (NPT3) is far less well characterized. In the present study, we investigated the transport properties and expression patterns of mouse SLC17A2 protein (mNPT3). Proteoliposomes containing the purified mNPT3 protein took up radiolabeled p-aminohippuric acid (PAH) in a Δψ- and Cl(-)-dependent manner. The mNPT3-mediated PAH uptake was inhibited by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid (DIDs) and Evans blue, common inhibitors of SLC17 family members. The PAH uptake was also inhibited by various anionic compounds, such as hydrophilic nonsteroidal anti-inflammatory drugs (NSAIDs) and urate. Consistent with these observations, the proteoliposome took up radiolabeled urate in a Δψ- and Cl(-)-dependent manner. Immunohistochemistry with specific antibodies against mNPT3 combined with RT-PCR revealed that mNPT3 is present in various tissues, including the hepatic bile duct, luminal membranes of the renal urinary tubules, maternal side of syncytiotrophoblast in the placenta, apical membrane of follicle cells in the thyroid, bronchiole epithelial cells in the lungs, and astrocytes around blood vessels in the cerebrum. These results suggested that mNPT3 is a polyspecific organic anion transporter that is involved in circulation of urate throughout the body.
[Mh] Termos MeSH primário: Membrana Celular/metabolismo
Cloretos/metabolismo
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/metabolismo
Ácido Úrico/metabolismo
[Mh] Termos MeSH secundário: Animais
Transporte Biológico
Membrana Celular/efeitos dos fármacos
Regulação da Expressão Gênica
Hipuratos/metabolismo
Cinética
Potenciais da Membrana
Camundongos Endogâmicos C57BL
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/antagonistas & inibidores
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Chlorides); 0 (Hippurates); 0 (Slc17a2 protein, mouse); 0 (Sodium-Phosphate Cotransporter Proteins, Type I); 268B43MJ25 (Uric Acid); TE0865N2ET (hippuric acid)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:150716
[Lr] Data última revisão:
150716
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150515
[St] Status:MEDLINE
[do] DOI:10.1152/ajpcell.00048.2015


  8 / 105 MEDLINE  
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[PMID]:25252215
[Au] Autor:Chiba T; Matsuo H; Kawamura Y; Nagamori S; Nishiyama T; Wei L; Nakayama A; Nakamura T; Sakiyama M; Takada T; Taketani Y; Suma S; Naito M; Oda T; Kumagai H; Moriyama Y; Ichida K; Shimizu T; Kanai Y; Shinomiya N
[Ad] Endereço:National Defense Medical College, Tokorozawa, Japan.
[Ti] Título:NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.
[So] Source:Arthritis Rheumatol;67(1):281-7, 2015 Jan.
[Is] ISSN:2326-5205
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Serum uric acid (SUA) levels in humans are mainly regulated by urate transporters. Recent genome-wide association studies suggested that common variants of the human sodium-dependent phosphate cotransporter type 1 gene (NPT1/SLC17A1) influence SUA. NPT1 has been reported to mediate urate transport, but its physiologic role in regulating SUA in humans remains unclear. Furthermore, the findings of replication studies of the relationship between NPT1 variants and gout have been inconsistent. The aims of this study were to investigate the effect of NPT1 on gout and to determine its physiologic role. METHODS: Five hundred forty-five male Japanese patients with gout and 1,115 male Japanese control subjects were genotyped for rs1165196 (I269T), a common missense variant in NPT1. Analyses of the association between rs1165196 and gout were then conducted, focusing especially on renal underexcretion (RUE) gout. Immunohistochemical analysis and functional analysis using Xenopus oocytes were also performed. RESULTS: Single-nucleotide polymorphism rs1165196 significantly decreased the risk of RUE gout (odds ratio 0.73, P = 0.031) but did not confer a risk for all gout (P = 0.123). The immunohistochemical analysis revealed that human NPT1 is localized to the apical membrane of the renal proximal tubule. The functional analysis using Xenopus oocyte expression systems showed that rs1165196 increases NPT1-mediated urate export. CONCLUSION: This study showed that NPT1 is a urate exporter located in the renal proximal tubule in humans, and that its common gain-of-function variant, rs1165196, causes RUE gout, a major subtype of gout. These findings enable us to deepen our understanding of the physiologic role of NPT1 as a renal urate exporter as well as its pathophysiologic role in gout.
[Mh] Termos MeSH primário: Gota/genética
Rim/metabolismo
Mutação de Sentido Incorreto/genética
Polimorfismo de Nucleotídeo Único/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/fisiologia
Ácido Úrico/metabolismo
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Animais
Estudos de Casos e Controles
Feminino
Frequência do Gene/genética
Predisposição Genética para Doença/genética
Genótipo
Gota/classificação
Gota/epidemiologia
Seres Humanos
Túbulos Renais Proximais/metabolismo
Masculino
Dados de Sequência Molecular
Oócitos/fisiologia
Fatores de Risco
Xenopus
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (SLC17A1 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I); 268B43MJ25 (Uric Acid)
[Em] Mês de entrada:1503
[Cu] Atualização por classe:160511
[Lr] Data última revisão:
160511
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:140925
[St] Status:MEDLINE
[do] DOI:10.1002/art.38884


  9 / 105 MEDLINE  
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[PMID]:24951662
[Au] Autor:Bis JC; White CC; Franceschini N; Brody J; Zhang X; Muzny D; Santibanez J; Gibbs R; Liu X; Lin H; Boerwinkle E; Psaty BM; North KE; Cupples LA; O'Donnell CJ; CHARGE Subclinical Atherosclerosis Working Group
[Ti] Título:Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
[So] Source:Circ Cardiovasc Genet;7(3):359-64, 2014 Jun.
[Is] ISSN:1942-3268
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Atherosclerosis, the precursor to coronary heart disease and stroke, is characterized by an accumulation of fatty cells in the arterial intimal-medial layers. Common carotid intima media thickness (cIMT) and plaque are subclinical atherosclerosis measures that predict cardiovascular disease events. Previously, genome-wide association studies demonstrated evidence for association with cIMT (SLC17A4) and plaque (PIK3CG). METHODS AND RESULTS: We sequenced 120 kb around SLC17A4 (6p22.2) and 251 kb around PIK3CG (7q22.3) among 3669 European ancestry participants from the Atherosclerosis Risk in Communities (ARIC) study, Cardiovascular Health Study (CHS), and Framingham Heart Study (FHS) in Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Primary analyses focused on 438 common variants (minor allele frequency ≥1%), which were independently meta-analyzed. A 3' untranslated region CCDC71L variant (rs2286149), upstream from PIK3CG, was the most significant finding in cIMT (P=0.00033) and plaque (P=0.0004) analyses. A SLC17A4 intronic variant was also associated with cIMT (P=0.008). Both were in low linkage disequilibrium with the genome-wide association study single nucleotide polymorphisms. Gene-based tests including T1 count and sequence kernel association test for rare variants (minor allele frequency <1%) did not yield statistically significant associations. However, we observed nominal associations for rare variants in CCDC71L and SLC17A3 with cIMT and of the entire 7q22 region with plaque (P=0.05). CONCLUSIONS: Common and rare variants in PIK3CG and SLC17A4 regions demonstrated modest association with subclinical atherosclerosis traits. Although not conclusive, these findings may help to understand the genetic architecture of regions previously implicated by genome-wide association studies and identify variants within these regions for further investigation in larger samples.
[Mh] Termos MeSH primário: Envelhecimento/genética
Aterosclerose/genética
Variação Genética
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Aterosclerose/epidemiologia
Classe Ib de Fosfatidilinositol 3-Quinase/genética
Estudos de Coortes
Grupo com Ancestrais do Continente Europeu/genética
Feminino
Estudo de Associação Genômica Ampla
Genômica
Seres Humanos
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Análise de Sequência de DNA
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, AMERICAN RECOVERY AND REINVESTMENT ACT; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (SLC17A3 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I); EC 2.7.1.137 (Class Ib Phosphatidylinositol 3-Kinase); EC 2.7.1.137 (PIK3CG protein, human)
[Em] Mês de entrada:1503
[Cu] Atualização por classe:170730
[Lr] Data última revisão:
170730
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:140622
[St] Status:MEDLINE
[do] DOI:10.1161/CIRCGENETICS.113.000116


  10 / 105 MEDLINE  
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[PMID]:23852697
[Au] Autor:Dalbeth N; House ME; Gamble GD; Horne A; Purvis L; Stewart A; Merriman M; Cadzow M; Phipps-Green A; Merriman TR
[Ad] Endereço:Department of Medicine, University of Auckland, , Auckland, New Zealand.
[Ti] Título:Population-specific effects of SLC17A1 genotype on serum urate concentrations and renal excretion of uric acid during a fructose load.
[So] Source:Ann Rheum Dis;73(1):313-4, 2014 Jan.
[Is] ISSN:1468-2060
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Frutose/farmacocinética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/genética
Proteínas Cotransportadoras de Sódio-Fosfato Tipo I/metabolismo
Ácido Úrico/sangue
Ácido Úrico/urina
[Mh] Termos MeSH secundário: Genótipo
Voluntários Saudáveis
Seres Humanos
Hiperuricemia/genética
Hiperuricemia/metabolismo
[Pt] Tipo de publicação:LETTER; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (SLC17A1 protein, human); 0 (Sodium-Phosphate Cotransporter Proteins, Type I); 268B43MJ25 (Uric Acid); 30237-26-4 (Fructose)
[Em] Mês de entrada:1402
[Cu] Atualização por classe:131205
[Lr] Data última revisão:
131205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:130716
[St] Status:MEDLINE
[do] DOI:10.1136/annrheumdis-2013-203767



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