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[PMID]:29079714
[Au] Autor:Rafiq NK; Hussain K; Brogan PA
[Ad] Endereço:Department of Paediatric Rheumatology, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, and n.rafiq@nhs.net.
[Ti] Título:Tocilizumab for the Treatment of SLC29A3 Mutation Positive PHID Syndrome.
[So] Source:Pediatrics;140(5), 2017 Nov.
[Is] ISSN:1098-4275
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) is associated with recessive mutations in , encoding the equilibrative nucleoside transporter hENT3 expressed in mitochondria, causing PHID and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy-plus syndrome. Autoinflammation is increasingly recognized in these syndromes. We previously reported a 16-year-old girl with PHID syndrome associated with severe autoinflammation that was recalcitrant to interleukin-1 and tumor necrosis factor-α blockade. Tocilizumab is a humanized, monoclonal, anti-human interleukin-6 receptor antibody routinely used to treat arthritis in children and adults. Herein we report the first case of successful treatment of PHID syndrome using tocilizumab. Before commencing tocilizumab, there was evidence of significant systemic inflammation, and progressive sclerodermatous changes (physician global assessment [PGA] 7/10). Twelve weeks after starting tocilizumab (8 mg/kg every 2 weeks, intravenously) systemic inflammatory symptoms improved, and acute phase response markers normalized; serum amyloid A reduced from 178 to 8.4 mg/L. After a dose increase to 12 mg/kg every 2 weeks her energy levels, appetite, fevers, and night sweats further improved. Less skin tightness (PGA 5/10) was documented 12 months later. This excellent clinical and serological response was sustained over 48 months, and cutaneous sclerosis had improved further (PGA 3/10). Her height remained well below the 0.4th centile, and tocilizumab also had no impact on her diabetes or exocrine pancreatic insufficiency. Although the mechanism of autoinflammation of PHID remains uncertain, we suggest that tocilizumab should be the first choice when considering treatment of the autoinflammatory or cutaneous manifestations of this genetic disease.
[Mh] Termos MeSH primário: Anticorpos Monoclonais Humanizados/uso terapêutico
Contratura/tratamento farmacológico
Contratura/genética
Perda Auditiva Neurossensorial/tratamento farmacológico
Perda Auditiva Neurossensorial/genética
Histiocitose/tratamento farmacológico
Histiocitose/genética
Mutação/genética
Proteínas de Transporte de Nucleosídeos/genética
[Mh] Termos MeSH secundário: Adolescente
Contratura/diagnóstico
Feminino
Perda Auditiva Neurossensorial/diagnóstico
Histiocitose/diagnóstico
Seres Humanos
Síndrome
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Monoclonal, Humanized); 0 (Nucleoside Transport Proteins); 0 (SLC29A3 protein, human); I031V2H011 (tocilizumab)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171029
[St] Status:MEDLINE


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[PMID]:28929804
[Au] Autor:Cavaliere A; Probst KC; Westwell AD; Slusarczyk M
[Ad] Endereço:School of Pharmacy & Pharmaceutical Sciences, Cardiff University, Redwood Building, King Edward VII Avenue, Cardiff, CF10 3NB Wales, UK.
[Ti] Título:Fluorinated nucleosides as an important class of anticancer and antiviral agents.
[So] Source:Future Med Chem;9(15):1809-1833, 2017 Oct.
[Is] ISSN:1756-8927
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Fluorine-containing nucleoside analogs (NAs) represent a significant class of the US FDA-approved chemotherapeutics widely used in the clinic. The incorporation of fluorine into drug-like agents modulates lipophilic, electronic and steric parameters, thus influencing pharmacodynamic and pharmacokinetic properties of drugs. Fluorine can block oxidative metabolism of drugs and the formation of undesired metabolites by changing H-bonding interactions. In this review, we focus our attention on chemical fluorination reagents and methods used in the NAs field, including positron emission tomography radiochemistry. We briefly discuss both the cellular biology and clinical properties of FDA-approved and fluorine-containing nucleoside/nucleotide analogs in development as well as common resistance mechanisms associated with their use. Finally, we emphasize pronucleotide strategies used to improve therapeutic outcome of NAs in the clinic.
[Mh] Termos MeSH primário: Antineoplásicos/química
Antivirais/química
Flúor/química
Nucleosídeos/química
[Mh] Termos MeSH secundário: Antineoplásicos/farmacologia
Antineoplásicos/uso terapêutico
Antivirais/síntese química
Antivirais/farmacologia
Desoxicitidina/análogos & derivados
Desoxicitidina/química
Desoxicitidina/farmacologia
Fluoruracila/química
Fluoruracila/metabolismo
HIV/efeitos dos fármacos
Neoplasias/diagnóstico
Neoplasias/tratamento farmacológico
Proteínas de Transporte de Nucleosídeos/química
Proteínas de Transporte de Nucleosídeos/metabolismo
Tomografia por Emissão de Pósitrons
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Antiviral Agents); 0 (Nucleoside Transport Proteins); 0 (Nucleosides); 0W860991D6 (Deoxycytidine); 284SYP0193 (Fluorine); B76N6SBZ8R (gemcitabine); U3P01618RT (Fluorouracil)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170921
[St] Status:MEDLINE
[do] DOI:10.4155/fmc-2017-0095


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[PMID]:28729424
[Au] Autor:Rahman MF; Askwith C; Govindarajan R
[Ad] Endereço:From the Division of Pharmaceutics and Pharmaceutical Chemistry, College of Pharmacy.
[Ti] Título:Molecular determinants of acidic pH-dependent transport of human equilibrative nucleoside transporter 3.
[So] Source:J Biol Chem;292(36):14775-14785, 2017 Sep 08.
[Is] ISSN:1083-351X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Equilibrative nucleoside transporters (ENTs) translocate hydrophilic nucleosides across cellular membranes and are essential for salvage nucleotide synthesis and purinergic signaling. Unlike the prototypic human ENT members hENT1 and hENT2, which mediate plasma membrane nucleoside transport at pH 7.4, hENT3 is an acidic pH-activated lysosomal transporter partially localized to mitochondria. Recent studies demonstrate that hENT3 is indispensable for lysosomal homeostasis, and that mutations in hENT3 can result in a spectrum of lysosomal storage-like disorders. However, despite hENT3's prominent role in lysosome pathophysiology, the molecular basis of hENT3-mediated transport is unknown. Therefore, we sought to examine the mechanistic basis of acidic pH-driven hENT3 nucleoside transport with site-directed mutagenesis, homology modeling, and [ H]adenosine flux measurements in mutant RNA-injected oocytes. Scanning mutagenesis of putative residues responsible for pH-dependent transport via hENT3 revealed that the ionization states of Asp-219 and Glu-447, and not His, strongly determined the pH-dependent transport permissible-impermissible states of the transporter. Except for substitution with certain isosteric and polar residues, substitution of either Asp-219 or Glu-447 with any other residues resulted in robust activity that was pH-independent. Dual substitution of Asp-219 and Glu-447 to Ala sustained pH-independent activity over a broad range of physiological pH (pH 5.5-7.4), which also maintained stringent substrate selectivity toward endogenous nucleosides and clinically used nucleoside drugs. Our results suggest a putative pH-sensing role for Asp-219 and Glu-447 in hENT3 and that the size, ionization state, or electronegative polarity at these positions is crucial for obligate acidic pH-dependent activity.
[Mh] Termos MeSH primário: Proteínas de Transporte de Nucleosídeos/química
Proteínas de Transporte de Nucleosídeos/metabolismo
[Mh] Termos MeSH secundário: Ácido Aspártico/química
Ácido Aspártico/genética
Ácido Aspártico/metabolismo
Ácido Glutâmico/química
Ácido Glutâmico/genética
Ácido Glutâmico/metabolismo
Seres Humanos
Concentração de Íons de Hidrogênio
Mutação
Proteínas de Transporte de Nucleosídeos/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nucleoside Transport Proteins); 0 (SLC29A3 protein, human); 30KYC7MIAI (Aspartic Acid); 3KX376GY7L (Glutamic Acid)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170722
[St] Status:MEDLINE
[do] DOI:10.1074/jbc.M117.787952


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[PMID]:28614806
[Au] Autor:Cai Y; Shi Z; Bai Y
[Ad] Endereço:Department of Hematology/Oncology, China-Japan Union Hospital of Jilin University, Changchun, China.
[Ti] Título:Review of Rosai-Dorfman Disease: New Insights into the Pathogenesis of This Rare Disorder.
[So] Source:Acta Haematol;138(1):14-23, 2017.
[Is] ISSN:1421-9662
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Rosai-Dorfman disease (RDD) is a rare histiocytosis typically with bilateral painless cervical lymphadenopathy. Laboratory data are nonspecific, and the presence of emperipolesis in large foamy S-100+ CD1a- histiocytes is the prominent histologic feature. The pathogenesis of RDD still remains elusive. According to published studies, we propose that RDD cells might represent intermediate recruiting monocytes with differentiation blockade. Both disturbance of homoeostasis and inherent genomic alterations could contribute to initiation of the disorder through signal transduction. Several inflammatory molecules such as macrophage colony-stimulating factor, IL-1ß, IL-6, and tumor necrosis factor-α also play a pivotal role in the development of this rare entity. Additional studies are needed to further elucidate the essence of the disease.
[Mh] Termos MeSH primário: Histiocitose Sinusal/patologia
[Mh] Termos MeSH secundário: Antígenos CD/metabolismo
Antígenos de Diferenciação Mielomonocítica/metabolismo
Seres Humanos
Interleucina-1beta/metabolismo
Interleucina-6/metabolismo
Fator Estimulador de Colônias de Macrófagos/metabolismo
Monócitos/citologia
Monócitos/metabolismo
Proteínas de Transporte de Nucleosídeos/genética
Proteínas S100/metabolismo
Fator de Necrose Tumoral alfa/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antigens, CD); 0 (Antigens, Differentiation, Myelomonocytic); 0 (CD68 antigen, human); 0 (Interleukin-1beta); 0 (Interleukin-6); 0 (Nucleoside Transport Proteins); 0 (S100 Proteins); 0 (SLC29A3 protein, human); 0 (Tumor Necrosis Factor-alpha); 81627-83-0 (Macrophage Colony-Stimulating Factor)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170615
[St] Status:MEDLINE
[do] DOI:10.1159/000475588


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[PMID]:28554179
[Au] Autor:Vural S; Ertop P; Durmaz CD; Sanli H; Okçu Heper A; Kundakçi N; Karabulut HG; Ilgin Ruhi H
[Ad] Endereço:Department of Dermatology, Faculty of Medicine, Ankara University, Ankara, Turkey.
[Ti] Título:Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.
[So] Source:Cytogenet Genome Res;151(4):186-190, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:H syndrome (OMIM 602782) is a very rare autosomal recessive genodermatosis with multisystem involvement. Hallmarks of this disorder are juvenile onset and progressive, hyperpigmented, hypertrichotic lesions with histiocytic infiltration. Associated systemic manifestations form a long list, and there is high variability between patients. In some patients, dysmorphic and other systemic features may be so subtle that the disorder may readily be mistaken as an acquired skin disease and treated as such. Herein, we report a novel homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene in a patient with skin-dominant presentation of H syndrome. Additionally, due to the present case, double superior vena cava can be added to the list of possible cardiovascular manifestations of H syndrome.
[Mh] Termos MeSH primário: Mutação/genética
Proteínas de Transporte de Nucleosídeos/genética
Dermatopatias/genética
Pele/patologia
[Mh] Termos MeSH secundário: Adolescente
Feminino
Homozigoto
Seres Humanos
Fenótipo
Dermatopatias/patologia
Síndrome
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nucleoside Transport Proteins); 0 (SLC29A3 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170530
[St] Status:MEDLINE
[do] DOI:10.1159/000475908


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[PMID]:28424521
[Au] Autor:Hirschi M; Johnson ZL; Lee SY
[Ad] Endereço:Department of Biochemistry, Duke University Medical Center, 303 Research Drive, Durham, North Carolina 27710, USA.
[Ti] Título:Visualizing multistep elevator-like transitions of a nucleoside transporter.
[So] Source:Nature;545(7652):66-70, 2017 05 04.
[Is] ISSN:1476-4687
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Membrane transporters move substrates across the membrane by alternating access of their binding sites between the opposite sides of the membrane. An emerging model of this process is the elevator mechanism, in which a substrate-binding transport domain moves a large distance across the membrane. This mechanism has been characterized by a transition between two states, but the conformational path that leads to the transition is not yet known, largely because the available structural information has been limited to the two end states. Here we present crystal structures of the inward-facing, intermediate, and outward-facing states of a concentrative nucleoside transporter from Neisseria wadsworthii. Notably, we determined the structures of multiple intermediate conformations, in which the transport domain is captured halfway through its elevator motion. Our structures present a trajectory of the conformational transition in the elevator model, revealing multiple intermediate steps and state-dependent conformational changes within the transport domain that are associated with the elevator-like motion.
[Mh] Termos MeSH primário: Modelos Biológicos
Movimento
Neisseria/química
Proteínas de Transporte de Nucleosídeos/química
Proteínas de Transporte de Nucleosídeos/metabolismo
[Mh] Termos MeSH secundário: Sítios de Ligação
Cristalização
Cristalografia por Raios X
Cisteína/química
Cisteína/metabolismo
Elevadores e Escadas Rolantes
Ligantes
Modelos Moleculares
Mutação
Domínios Proteicos
Uridina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Ligands); 0 (Nucleoside Transport Proteins); K848JZ4886 (Cysteine); WHI7HQ7H85 (Uridine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170421
[St] Status:MEDLINE
[do] DOI:10.1038/nature22057


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[PMID]:27939174
[Au] Autor:Wood MR; Noetzel MJ; Poslusney MS; Melancon BJ; Tarr JC; Lamsal A; Chang S; Luscombe VB; Weiner RL; Cho HP; Bubser M; Jones CK; Niswender CM; Wood MW; Engers DW; Brandon NJ; Duggan ME; Conn PJ; Bridges TM; Lindsley CW
[Ad] Endereço:Vanderbilt Center for Neuroscience Drug Discovery, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Department of Chemistry, Vanderbilt University, Nashville, TN 37232, USA.
[Ti] Título:Challenges in the development of an M PAM in vivo tool compound: The discovery of VU0467154 and unexpected DMPK profiles of close analogs.
[So] Source:Bioorg Med Chem Lett;27(2):171-175, 2017 01 15.
[Is] ISSN:1464-3405
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:This letter describes the chemical optimization of a novel series of M positive allosteric modulators (PAMs) based on a 5-amino-thieno[2,3-c]pyridazine core, developed via iterative parallel synthesis, and culminating in the highly utilized rodent in vivo tool compound, VU0467154 (5). This is the first report of the optimization campaign (SAR and DMPK profiling) that led to the discovery of VU0467154, and details all of the challenges faced in allosteric modulator programs (steep SAR, species differences in PAM pharmacology and subtle structural changes affecting CNS penetration).
[Mh] Termos MeSH primário: Piridazinas/farmacologia
Receptor Muscarínico M4/agonistas
Tiofenos/farmacologia
[Mh] Termos MeSH secundário: Animais
Seres Humanos
Ligantes
Proteínas de Transporte de Nucleosídeos/metabolismo
Piridazinas/administração & dosagem
Piridazinas/síntese química
Piridazinas/farmacocinética
Ratos Sprague-Dawley
Relação Estrutura-Atividade
Tiofenos/administração & dosagem
Tiofenos/síntese química
Tiofenos/farmacocinética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (5-amino-3,4-dimethyl-N-(4-((trifluoromethyl)sulfonyl)benzyl)thieno(2,3-c)pyridazine-6-carboxamide); 0 (Ligands); 0 (Nucleoside Transport Proteins); 0 (Pyridazines); 0 (Receptor, Muscarinic M4); 0 (Thiophenes); 0 (adenosine transporter)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171124
[Lr] Data última revisão:
171124
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


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[PMID]:27759477
[Au] Autor:Boswell-Casteel RC; Hays FA
[Ad] Endereço:a Department of Biochemistry and Molecular Biology , University of Oklahoma Health Sciences Center , Oklahoma City , OK , USA.
[Ti] Título:Equilibrative nucleoside transporters-A review.
[So] Source:Nucleosides Nucleotides Nucleic Acids;36(1):7-30, 2017 Jan 02.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Equilibrative nucleoside transporters (ENTs) are polytopic integral membrane proteins that mediate the transport of nucleosides, nucleobases, and therapeutic analogs. The best-characterized ENTs are the human transporters hENT1 and hENT2. However, non-mammalian eukaryotic ENTs have also been studied (e.g., yeast, parasitic protozoa). ENTs are major pharmaceutical targets responsible for modulating the efficacy of more than 30 approved drugs. However, the molecular mechanisms and chemical determinants of ENT-mediated substrate recognition, binding, inhibition, and transport are poorly understood. This review highlights findings on the characterization of ENTs by surveying studies on genetics, permeant and inhibitor interactions, mutagenesis, and structural models of ENT function.
[Mh] Termos MeSH primário: Proteínas de Transporte de Nucleosídeos/genética
Proteínas de Transporte de Nucleosídeos/metabolismo
[Mh] Termos MeSH secundário: Animais
Transportador Equilibrativo 1 de Nucleosídeo/metabolismo
Técnicas de Inativação de Genes
Seres Humanos
Terapia de Alvo Molecular/métodos
Mutagênese
Neoplasias/metabolismo
Neoplasias/mortalidade
Proteínas de Transporte de Nucleosídeos/antagonistas & inibidores
Proteínas de Transporte de Nucleosídeos/química
Polimorfismo de Nucleotídeo Único
Proteínas de Protozoários/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Equilibrative Nucleoside Transporter 1); 0 (LdNT2 protein, Leishmania donovani); 0 (Nucleoside Transport Proteins); 0 (Protozoan Proteins); 0 (SLC29A1 protein, human)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170306
[Lr] Data última revisão:
170306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161021
[St] Status:MEDLINE
[do] DOI:10.1080/15257770.2016.1210805


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[PMID]:27521624
[Au] Autor:Daumann M; Golfier P; Knüppel N; Hahn M; Möhlmann T
[Ad] Endereço:Pflanzenphysiologie, Fachbereich Biologie, Technische Universität Kaiserslautern, Erwin-Schrödinger-Straße, D-67663 Kaiserslautern, Germany.
[Ti] Título:Botrytis cinerea can import and utilize nucleosides in salvage and catabolism and BcENT functions as high affinity nucleoside transporter.
[So] Source:Fungal Biol;120(8):904-916, 2016 08.
[Is] ISSN:1878-6146
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Nucleotide de novo synthesis is an essential pathway in nearly all organisms. Transport processes as well as salvage and catabolism of nucleotides and pathway intermediates are required to balance nucleotide pools. We have analysed the genome of the fungal plant pathogen Botrytis cinerea for genes involved in nucleotide metabolism and found a complete set of genes necessary for purine and pyrimidine uptake and salvage based on homology of the gene products to corresponding proteins from Aspergillus nidulans. Candidate genes required for a complete purine catabolic sequence were identified in addition. These analyses were complemented by growth tests showing functional transport and salvage activity for pyrimidines. Growth of B. cinerea mycelium in nitrogen free medium could be restored by addition of purines, indicating the presence of a functional purine catabolism, whereas pyrimidines did not support growth. Bcin07g05490 (BcENT) was identified as sole member of the equilibrative nucleoside transporter (ENT) family. The protein synthesized in Saccharomyces cerevisiae revealed high affinity transport of adenosine (KM = 6.81 µM) and uridine (KM=9.04 µM). Furthermore, a BcENT knockout mutant was generated and tested in a range of growth and infection assays. These results provide detailed insight in the use of externally supplied nucleobases and nucleosides by B. cinerea.
[Mh] Termos MeSH primário: Botrytis/metabolismo
Metabolismo
Proteínas de Transporte de Nucleosídeos/metabolismo
Nucleosídeos/metabolismo
[Mh] Termos MeSH secundário: Aspergillus nidulans/genética
Botrytis/genética
Botrytis/crescimento & desenvolvimento
Clonagem Molecular
Biologia Computacional
Meios de Cultura/química
Expressão Gênica
Técnicas de Inativação de Genes
Genoma Fúngico
Micélio/crescimento & desenvolvimento
Saccharomyces cerevisiae/genética
Saccharomyces cerevisiae/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Culture Media); 0 (Nucleoside Transport Proteins); 0 (Nucleosides)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171126
[Lr] Data última revisão:
171126
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160814
[St] Status:MEDLINE


  10 / 599 MEDLINE  
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Texto completo SciELO Chile
[PMID]:27143505
[Au] Autor:Abarca Barriga HH; Trubnykova M; Polar Córdoba V; Ramos Diaz KJ; Aviles Alfaro N
[Ad] Endereço:Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú. Electronic address: habarca@insn.gob.pe.
[Ti] Título:[H syndrome: First reported paediatric case in Latin America].
[Ti] Título:Síndrome H: primer caso pediátrico reportado en América Latina..
[So] Source:Rev Chil Pediatr;87(6):494-499, 2016 Nov - Dec.
[Is] ISSN:0717-6228
[Cp] País de publicação:Chile
[La] Idioma:spa
[Ab] Resumo:INTRODUCTION: H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. OBJECTIVE: To present a clinical case with "typical" characteristics of H Syndrome. CLINICAL CASE: The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). CONCLUSIONS: These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis.
[Mh] Termos MeSH primário: Hiperpigmentação/genética
Hipertricose/genética
Proteínas de Transporte de Nucleosídeos/genética
Neoplasias Testiculares/genética
[Mh] Termos MeSH secundário: Estatura/genética
Criança
Perda Auditiva Neurossensorial/genética
Seres Humanos
Hiperpigmentação/diagnóstico
Hiperpigmentação/patologia
Hipertricose/diagnóstico
Hipertricose/patologia
Transtornos do Desenvolvimento da Linguagem/genética
América Latina
Masculino
Mutação
Síndrome
Neoplasias Testiculares/diagnóstico
Neoplasias Testiculares/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nucleoside Transport Proteins); 0 (SLC29A3 protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170410
[Lr] Data última revisão:
170410
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160505
[St] Status:MEDLINE



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