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[PMID]:29441913
[Ti] Título:Stimulation of bone regeneration with pigment epithelium-derived factor microparticles: evidence and .
[So] Source:Pharmazie;71(7):382-389, 2016 Jul 07.
[Is] ISSN:0031-7144
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:The occurrence of bone defects can be due to a variety of factors not limited to bone fractures and tumours. Most diseased bone is removed and the patient fitted with prosthetics, prior to use of certain factors such as bone morphogenetic proteins (BMPs) to aid healing. Recently, the protein pigment epithelium-derived factor (PEDF) and the polysaccharide chitosan have been found to have promising effects on the regeneration of bone, with the major advantage of these agents being their safety to date. A study was performed to determine whether the combination of both chitosan and PEDF would enhance greater bone regeneration effects. Post-formulation, in silico tests (particle sizing and surface charge determination) were followed by several cell-based assays (microparticle cellular uptake, cytotoxicity, mitochondrial abundance, bone mineral formation, colony formation in matrigel, and colony formation in collagen I matrix), and finally in vivo testing where microparticles were injected periosteally in the hindlimb. Collectively, these findings support the idea that PEDF microencapsulated within chitosan promotes bone regeneration, and has potential for bone trauma management. Future studies will examine the ability of this promising bone regeneration microparticle to heal bone in disease states such as fracture and tumour-mediated osteolysis.
[Mh] Termos MeSH primário: Regeneração Óssea/efeitos dos fármacos
Proteínas do Olho/farmacologia
Fatores de Crescimento Neural/farmacologia
Serpinas/farmacologia
[Mh] Termos MeSH secundário: Animais
Densidade Óssea/efeitos dos fármacos
Cápsulas
Sobrevivência Celular/efeitos dos fármacos
Quitosana/farmacologia
Colágeno Tipo I/farmacologia
Ensaio de Unidades Formadoras de Colônias
Simulação por Computador
Composição de Medicamentos
Proteínas do Olho/administração & dosagem
Proteínas do Olho/metabolismo
Membro Posterior
Seres Humanos
Injeções
Masculino
Camundongos
Camundongos Endogâmicos BALB C
Mitocôndrias/efeitos dos fármacos
Fatores de Crescimento Neural/administração & dosagem
Fatores de Crescimento Neural/metabolismo
Tamanho da Partícula
Serpinas/administração & dosagem
Serpinas/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Capsules); 0 (Collagen Type I); 0 (Eye Proteins); 0 (Nerve Growth Factors); 0 (Serpins); 0 (pigment epithelium-derived factor); 9012-76-4 (Chitosan)
[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:180215
[St] Status:MEDLINE
[do] DOI:10.1691/ph.2016.6010


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[PMID]:29335486
[Au] Autor:Ramírez F; Bhardwaj V; Arrigoni L; Lam KC; Grüning BA; Villaveces J; Habermann B; Akhtar A; Manke T
[Ad] Endereço:Max Planck Institute of Immunobiology and Epigenetics, Stübeweg 51, 79108, Freiburg, Germany.
[Ti] Título:High-resolution TADs reveal DNA sequences underlying genome organization in flies.
[So] Source:Nat Commun;9(1):189, 2018 01 15.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Despite an abundance of new studies about topologically associating domains (TADs), the role of genetic information in TAD formation is still not fully understood. Here we use our software, HiCExplorer (hicexplorer.readthedocs.io) to annotate >2800 high-resolution (570 bp) TAD boundaries in Drosophila melanogaster. We identify eight DNA motifs enriched at boundaries, including a motif bound by the M1BP protein, and two new boundary motifs. In contrast to mammals, the CTCF motif is only enriched on a small fraction of boundaries flanking inactive chromatin while most active boundaries contain the motifs bound by the M1BP or Beaf-32 proteins. We demonstrate that boundaries can be accurately predicted using only the motif sequences at open chromatin sites. We propose that DNA sequence guides the genome architecture by allocation of boundary proteins in the genome. Finally, we present an interactive online database to access and explore the spatial organization of fly, mouse and human genomes, available at http://chorogenome.ie-freiburg.mpg.de .
[Mh] Termos MeSH primário: Cromatina/ultraestrutura
Mapeamento Cromossômico/métodos
Cromossomos de Insetos/ultraestrutura
Drosophila melanogaster/genética
Genoma de Inseto
[Mh] Termos MeSH secundário: Animais
Evolução Biológica
Fator de Ligação a CCCTC/genética
Fator de Ligação a CCCTC/metabolismo
Cromatina/química
Montagem e Desmontagem da Cromatina
Cromossomos de Insetos/química
Proteínas de Ligação a DNA/genética
Proteínas de Ligação a DNA/metabolismo
Bases de Dados Genéticas
Proteínas de Drosophila/genética
Proteínas de Drosophila/metabolismo
Drosophila melanogaster/ultraestrutura
Proteínas do Olho/genética
Proteínas do Olho/metabolismo
Expressão Gênica
Seres Humanos
Camundongos
Conformação Molecular
Motivos de Nucleotídeos
Software
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (BEAF-32 protein, Drosophila); 0 (CCCTC-Binding Factor); 0 (CTCF protein, Drosophila); 0 (Chromatin); 0 (DNA-Binding Proteins); 0 (Drosophila Proteins); 0 (Eye Proteins); 0 (M1BP protein, Drosophila); 0 (Transcription Factors)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180117
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-02525-w


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[PMID]:29335463
[Au] Autor:Wang Q; Sun Q; Czajkowsky DM; Shao Z
[Ad] Endereço:Shanghai Center for Systems Biomedicine, Shanghai Jiao Tong University, 200240, Shanghai, China.
[Ti] Título:Sub-kb Hi-C in D. melanogaster reveals conserved characteristics of TADs between insect and mammalian cells.
[So] Source:Nat Commun;9(1):188, 2018 01 15.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Topologically associating domains (TADs) are fundamental elements of the eukaryotic genomic structure. However, recent studies suggest that the insulating complexes, CTCF/cohesin, present at TAD borders in mammals are absent from those in Drosophila melanogaster, raising the possibility that border elements are not conserved among metazoans. Using in situ Hi-C with sub-kb resolution, here we show that the D. melanogaster genome is almost completely partitioned into >4000 TADs, nearly sevenfold more than previously identified. The overwhelming majority of these TADs are demarcated by the insulator complexes, BEAF-32/CP190, or BEAF-32/Chromator, indicating that these proteins may play an analogous role in flies as that of CTCF/cohesin in mammals. Moreover, extended regions previously thought to be unstructured are shown to consist of small contiguous TADs, a property also observed in mammals upon re-examination. Altogether, our work demonstrates that fundamental features associated with the higher-order folding of the genome are conserved from insects to mammals.
[Mh] Termos MeSH primário: Cromatina/ultraestrutura
Mapeamento Cromossômico/métodos
Cromossomos de Insetos/ultraestrutura
Drosophila melanogaster/genética
Genoma de Inseto
Mamíferos/genética
[Mh] Termos MeSH secundário: Animais
Evolução Biológica
Fator de Ligação a CCCTC/genética
Fator de Ligação a CCCTC/metabolismo
Proteínas de Ciclo Celular/genética
Proteínas de Ciclo Celular/metabolismo
Cromatina/química
Montagem e Desmontagem da Cromatina
Proteínas Cromossômicas não Histona/genética
Proteínas Cromossômicas não Histona/metabolismo
Mapeamento Cromossômico/instrumentação
Cromossomos de Insetos/química
Proteínas de Ligação a DNA/genética
Proteínas de Ligação a DNA/metabolismo
Proteínas de Drosophila/genética
Proteínas de Drosophila/metabolismo
Drosophila melanogaster/ultraestrutura
Proteínas do Olho/genética
Proteínas do Olho/metabolismo
Expressão Gênica
Seres Humanos
Proteínas Associadas aos Microtúbulos/genética
Proteínas Associadas aos Microtúbulos/metabolismo
Conformação Molecular
Proteínas Associadas à Matriz Nuclear/genética
Proteínas Associadas à Matriz Nuclear/metabolismo
Proteínas Nucleares/genética
Proteínas Nucleares/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (BEAF-32 protein, Drosophila); 0 (CCCTC-Binding Factor); 0 (CP190 protein, Drosophila); 0 (CTCF protein, human); 0 (Cell Cycle Proteins); 0 (Chromatin); 0 (Chromosomal Proteins, Non-Histone); 0 (DNA-Binding Proteins); 0 (Drosophila Proteins); 0 (Eye Proteins); 0 (Microtubule-Associated Proteins); 0 (Nuclear Matrix-Associated Proteins); 0 (Nuclear Proteins); 0 (chromator protein, Drosophila); 0 (cohesins)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180117
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-02526-9


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[PMID]:29293603
[Au] Autor:Schori C; Agbaga MP; Brush RS; Ayyagari R; Grimm C; Samardzija M
[Ad] Endereço:Lab for Retinal Cell Biology, Department of Ophthalmology, University of Zurich, Zurich, Switzerland.
[Ti] Título:Elovl4 5-bp deletion does not accelerate cone photoreceptor degeneration in an all-cone mouse.
[So] Source:PLoS One;13(1):e0190514, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in the elongation of very long chain fatty acid 4 (ELOVL4) gene cause Stargardt macular dystrophy 3 (STGD3), a rare, juvenile-onset, autosomal dominant form of macular degeneration. Although several mouse models have already been generated to investigate the link between the three identified disease-causing mutations in the ELOVL4 gene, none of these models recapitulates the early-onset cone photoreceptor cell death observed in the macula of STGD3 patients. To address this specifically, we investigated the effect of mutant ELOVL4 in a mouse model with an all-cone retina. Hence, we bred mice carrying the heterozygously mutated Elovl4 gene on the R91W;Nrl-/- all-cone background and analyzed the retinal lipid composition, morphology, and function over the course of 1 year. We observed a reduction of total phosphatidylcholine-containing very long chain-polyunsaturated fatty acids (PC-VLC-PUFAs) by 39% in the R91W;Nrl-/-;Elovl4 mice already at 6 weeks of age with a pronounced decline of the longest forms of PC-VLC-PUFAs. Total levels of shorter-chain fatty acids (< C26) remained unaffected. However, this reduction in PC-VLC-PUFA content in the all-cone retina had no impact on morphology or function and did not accelerate retinal degeneration in the R91W;Nrl-/-;Elovl4 mice. Taken together, mutations in the ELOVL4 gene lead to cone degeneration in humans, whereas mouse models expressing the mutant Elovl4 show predominant rod degeneration. The lack of a phenotype in the all-cone retina expressing the mutant form of the protein supports the view that aberrant function of ELOVL4 is especially detrimental for rods in mice and suggests a more subtle role of VLC-PUFAs for cone maintenance and survival.
[Mh] Termos MeSH primário: Proteínas do Olho/genética
Proteínas de Membrana/genética
Células Fotorreceptoras Retinianas Cones/patologia
Deleção de Sequência
[Mh] Termos MeSH secundário: Animais
Eletrorretinografia
Proteínas do Olho/metabolismo
Ácidos Graxos Insaturados/metabolismo
Proteínas de Membrana/metabolismo
Camundongos
Camundongos Knockout
Mutação
Reação em Cadeia da Polimerase em Tempo Real
Células Fotorreceptoras Retinianas Cones/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Elovl4 protein, mouse); 0 (Eye Proteins); 0 (Fatty Acids, Unsaturated); 0 (Membrane Proteins)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180103
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190514


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[PMID]:29247589
[Au] Autor:Udagawa C; Nakamura H; Ohnishi H; Tamura K; Shimoi T; Yoshida M; Yoshida T; Totoki Y; Shibata T; Zembutsu H
[Ad] Endereço:Division of Genetics, National Cancer Center Research Institute, Tokyo, Japan.
[Ti] Título:Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity.
[So] Source:Cancer Sci;109(2):446-452, 2018 Feb.
[Is] ISSN:1349-7006
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Although trastuzumab-induced cardiotoxicity is an important determinant to limit the use of this drug, the molecular mechanism of risk for this toxicity is not well understood. To identify genetic variants determining the risk of trastuzumab-induced cardiotoxicity, we carried out whole exome sequencing of germline DNA samples from 9 patients with trastuzumab-induced cardiotoxicity, and conducted a case-control association study of 2258 genetic variants between 9 cases (with trastuzumab-induced cardiotoxicity) and general Japanese population controls registered in the Human Genetic Variation Database (HGVD). The top variant which showed the lowest P-value in the screening study was rs139503277 in PHD Finger Protein 3 (P = .00012, odds ratio [OR] = 51.23). To further validate the result of screening study, we carried out a replication study of 10 variants showing P < .001 in the screening study using 234 independent patients treated with trastuzumab, including 10 cases and 224 controls (without trastuzumab-induced cardiotoxicity). In the replication study, we observed that three variants had an effect in the same direction as in the screening study (rs78272919 in exon 2 of Keratin 15, rs5762940 in exon 2 of zinc and ring finger 3, and rs139944387 in exon 44 of Eyes shut homologs [EYS]). A combined result of the screening and the replication studies suggested an association of a locus on chromosome 6q12 with trastuzumab-induced cardiotoxicity (rs139944387 in EYS, combined P = .00056, OR = 13.73). This finding provides new insights into personalized trastuzumab therapy for patients with human epidermal growth factor receptor 2 (HER2)-positive cancer.
[Mh] Termos MeSH primário: Cardiotoxicidade/genética
Marcadores Genéticos/genética
Polimorfismo de Nucleotídeo Único
Trastuzumab/toxicidade
Sequenciamento Completo do Exoma/métodos
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Estudos de Casos e Controles
Proteínas do Olho/genética
Feminino
Mutação em Linhagem Germinativa
Seres Humanos
Queratina-15/genética
Masculino
Meia-Idade
Fatores de Transcrição/genética
Ubiquitina-Proteína Ligases/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (EYS protein, human); 0 (Eye Proteins); 0 (Genetic Markers); 0 (KRT15 protein, human); 0 (Keratin-15); 0 (PHF3 protein, human); 0 (Transcription Factors); EC 2.3.2.27 (Ubiquitin-Protein Ligases); EC 2.3.2.27 (ZNRF3 protein, human); P188ANX8CK (Trastuzumab)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180216
[Lr] Data última revisão:
180216
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171217
[St] Status:MEDLINE
[do] DOI:10.1111/cas.13471


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[PMID]:29177891
[Au] Autor:Ioanna Z; Christian S; Christian G; Daniel B
[Ad] Endereço:Department of Ophthalmology, University Hospital Zurich, Frauenklinikstrasse 24, 8091, Zurich, Switzerland.
[Ti] Título:Plasma levels of hypoxia-regulated factors in patients with age-related macular degeneration.
[So] Source:Graefes Arch Clin Exp Ophthalmol;256(2):325-332, 2018 Feb.
[Is] ISSN:1435-702X
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Various hypoxia-related proteins are differentially expressed in the retina and secreted to the vitreous and/or aqueous humor of patients affected by dry or neovascular age-related macular degeneration (nAMD). To determine whether these conditions alter concentrations of cytokines also in the systemic circulation, we measured plasma levels of six hypoxia-related proteins. METHODS: Plasma was prepared from EDTA blood that was collected from patients affected by dry AMD (n = 5), nAMD (n = 11), proliferative diabetic retinopathy (PDR; n = 9), and patients with an epiretinal membrane (ERM; n = 11). ERM samples served as negative controls, PDR samples as positive controls. Protein concentrations of vascular endothelial growth factor (VEGF), erythropoietin (EPO), angiopoietin-like 4 (ANGPTL4), placental growth factor (PlGF), tumor necrosis factor alpha (TNF-α), and pigment epithelium-derived factor (PEDF) were determined by enzyme-linked immunosorbent assay (ELISA). RESULTS: The concentration of PlGF was significantly increased in plasma of patients affected by nAMD. Although no statistically significant differences were found for EPO, ANGPTL4, PlGF, TNF-α, and PEDF, the mean concentration of VEGF was lowest in the nAMD group. Plasma concentrations of the six factors did not correlate with gender or age of patients. CONCLUSIONS: nAMD may increase plasma concentrations of PlGF, making it a candidate as a biomarker for the neovascular form of AMD. Other factors, however, were not differentially regulated, suggesting that their systemic concentrations are not generally increased in hypoxia-related retinal diseases.
[Mh] Termos MeSH primário: Proteína 4 Semelhante a Angiopoietina/sangue
Citocinas/sangue
Eritropoetina/sangue
Proteínas do Olho/sangue
Hipóxia/sangue
Proteínas de Membrana/sangue
Fatores de Crescimento Neural/sangue
Serpinas/sangue
Degeneração Macular Exsudativa/sangue
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Biomarcadores/sangue
Ensaio de Imunoadsorção Enzimática
Feminino
Seres Humanos
Hipóxia/etiologia
Macula Lutea/patologia
Masculino
Meia-Idade
Tomografia de Coerência Óptica
Fator A de Crescimento do Endotélio Vascular/sangue
Degeneração Macular Exsudativa/complicações
Degeneração Macular Exsudativa/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ANGPTL4 protein, human); 0 (Angiopoietin-like 4 Protein); 0 (Biomarkers); 0 (Cytokines); 0 (Eye Proteins); 0 (Membrane Proteins); 0 (Nerve Growth Factors); 0 (PIGF protein, human); 0 (Serpins); 0 (Vascular Endothelial Growth Factor A); 0 (pigment epithelium-derived factor); 11096-26-7 (Erythropoietin)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1007/s00417-017-3846-z


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[PMID]:29374685
[Au] Autor:Belkacemi L; Atkins JL; Yang LU; Gadgil P; Sater AK; Chow DS; Bose RN; Zhang SX
[Ad] Endereço:Department of Biology and Biochemistry, University of Houston, Houston, TX, U.S.A. lbelkace@uh.edu lbelkacemi1@gmail.com xzhang5@central.uh.edu.
[Ti] Título:Phosphaplatin Anti-tumor Effect Enhanced by Liposomes Partly an Up-regulation of PEDF in Breast Cancer.
[So] Source:Anticancer Res;38(2):623-646, 2018 02.
[Is] ISSN:1791-7530
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIM: Phosphaplatin platinum (IV) (RRD4) complex has exceptional antitumor properties. The aim of this study was to investigate the effects and the mechanism of action of free and liposome-encapsulated RRD4 in breast cancer. MATERIALS AND METHODS: Liposome-encapsulated RRD4 prepared by thin-film dehydration: hydration and free RRD4 were tested in vivo and in vitro against 4T1 breast cancer cells. Cell proliferation, migration and viability were determined. Tissue and cell production and expression of pigment epithelium-derived factor (PEDF) were assessed by ELISA and western blot. 4T1 cells treated with PEDF siRNA were evaluated for viability and apoptosis. RESULTS: RRD4 inhibited tumor growth and prevented distant metastasis. Liposome formulation enhanced this therapeutic benefit without increasing toxicity and prolonged RRD4 retention in tumor tissues. In vitro, RRD4 induced 4T1 apoptosis through up-regulation of FAS, BAX, and PUMA, and down-regulation of BCL2. RRD4 facilitates a FAS-intrinsic signaling mechanism. PEDF up-regulation represents another antitumor mechanism associated with this phosphaplatin compound. DISCUSSION: Free RRD4 or formulated into liposomes, are excellent candidates for adjuvant therapy against breast tumor growth and metastasis.
[Mh] Termos MeSH primário: Antineoplásicos/farmacologia
Proteínas do Olho/metabolismo
Lipossomos/farmacologia
Neoplasias Mamárias Experimentais/tratamento farmacológico
Fatores de Crescimento Neural/metabolismo
Compostos Organoplatínicos/farmacologia
Serpinas/metabolismo
[Mh] Termos MeSH secundário: Animais
Antineoplásicos/administração & dosagem
Linhagem Celular Tumoral
Proliferação Celular/efeitos dos fármacos
Proteínas do Olho/genética
Feminino
Técnicas de Silenciamento de Genes
Lipossomos/administração & dosagem
Lipossomos/química
Neoplasias Mamárias Experimentais/metabolismo
Camundongos Endogâmicos BALB C
Fatores de Crescimento Neural/genética
Compostos Organoplatínicos/administração & dosagem
Serpinas/genética
Regulação para Cima/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 ((1R,2R-diaminocyclohexane)(dihydropyrophosphato)(trans-dihydroxo)platinum(IV)); 0 (Antineoplastic Agents); 0 (Eye Proteins); 0 (Liposomes); 0 (Nerve Growth Factors); 0 (Organoplatinum Compounds); 0 (Serpins); 0 (pigment epithelium-derived factor)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180208
[Lr] Data última revisão:
180208
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180129
[St] Status:MEDLINE


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[PMID]:29178642
[Au] Autor:Thompson JA; De Roach JN; McLaren TL; Montgomery HE; Hoffmann LH; Campbell IR; Chen FK; Mackey DA; Lamey TM
[Ad] Endereço:Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
[Ti] Título:The genetic profile of Leber congenital amaurosis in an Australian cohort.
[So] Source:Mol Genet Genomic Med;5(6):652-667, 2017 11.
[Is] ISSN:2324-9269
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. LCA encompasses a group of heterogeneous disorders, with 24 genes currently implicated in pathogenesis. Such clinical and genetic heterogeneity poses great challenges for treatment, with personalized therapies anticipated to be the best treatment candidates. Unraveling the individual genetic etiology of disease is a prerequisite for personalized therapies, and could identify potential treatment candidates, inform patient management, and discriminate syndromic forms of disease. METHODS: We have genetically analyzed 45 affected and 82 unaffected individuals from 34 unrelated LCA pedigrees using predominantly next-generation sequencing and Array CGH technology. RESULTS: We present the molecular findings for an Australian LCA cohort, sourced from the Australian Inherited Retinal Disease Registry & DNA Bank. CEP290 and GUCY2D mutations, each represent 19% of unrelated LCA cases, followed by NMNAT1 (12%). Genetic subtypes were consistent with other reports, and were resolved in 90% of this cohort. CONCLUSION: The high resolution rate achieved, equivalent to recent findings using whole exome/genome sequencing, reflects the progression from hypothesis (LCA Panel) to non-hypothesis (RD Panel) testing and, coupled with Array CGH analysis, is a highly effective first-tier test for LCA.
[Mh] Termos MeSH primário: Amaurose Congênita de Leber/genética
Grupo com Ancestrais Oceânicos/genética
[Mh] Termos MeSH secundário: Antígenos de Neoplasias/genética
Austrália/epidemiologia
Estudos de Coortes
Análise Mutacional de DNA
Bases de Dados Genéticas
Proteínas do Olho/genética
Guanilato Ciclase/genética
Heterozigoto
Sequenciamento de Nucleotídeos em Larga Escala
Homozigoto
Seres Humanos
Amaurose Congênita de Leber/diagnóstico
Amaurose Congênita de Leber/epidemiologia
Proteínas Associadas aos Microtúbulos/genética
Proteínas de Neoplasias/genética
Nicotinamida-Nucleotídeo Adenililtransferase/genética
Linhagem
Fenótipo
Prevalência
Receptores de Superfície Celular/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Antigens, Neoplasm); 0 (Cep290 protein, human); 0 (Eye Proteins); 0 (Microtubule-Associated Proteins); 0 (Neoplasm Proteins); 0 (Receptors, Cell Surface); 0 (guanylate cyclase 1); 0 (lebercilin protein, human); EC 2.7.7.1 (NMNAT1 protein, human); EC 2.7.7.1 (Nicotinamide-Nucleotide Adenylyltransferase); EC 4.6.1.2 (Guanylate Cyclase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171128
[St] Status:MEDLINE
[do] DOI:10.1002/mgg3.321


  9 / 14867 MEDLINE  
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[PMID]:29372797
[Au] Autor:Kyrchanova OV; Postika NY; Parshikov AF; Georgiev PG
[Ti] Título:[Insulators can disrupt weak transcription derived from the white gene enhancer in Drosophila transgenic lines].
[So] Source:Genetika;52(11):1332-5, 2016 Nov.
[Is] ISSN:0016-6758
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:Increasing evidence suggests that noncoding RNA transcribed from the enhancers play an important role in the regulation of gene transcription. Insulators are the regulatory elements that limit the activity of enhancers and form independent transcriptional domains. Using a transgenic lines, we show that the Fab-7 insulator of the bithorax complex and the MDG4 (gypsy) insulator are able to disrupt weak transcription derived from the enhancer regulating the white gene expression in the eyes. The ability of insulators to disrupt weak transcription may play a role in the enhancer-blocking activity.
[Mh] Termos MeSH primário: Transportadores de Cassetes de Ligação de ATP/biossíntese
Transportadores de Cassetes de Ligação de ATP/genética
Proteínas de Drosophila/biossíntese
Proteínas de Drosophila/genética
Elementos Facilitadores Genéticos/fisiologia
Proteínas do Olho/biossíntese
Proteínas do Olho/genética
Regulação da Expressão Gênica/fisiologia
Elementos Isolantes/fisiologia
Transcrição Genética/fisiologia
[Mh] Termos MeSH secundário: Animais
Animais Geneticamente Modificados
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ATP-Binding Cassette Transporters); 0 (Drosophila Proteins); 0 (Eye Proteins); 0 (white protein, Drosophila)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180127
[St] Status:MEDLINE


  10 / 14867 MEDLINE  
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[PMID]:29284024
[Au] Autor:Halfter W; Moes S; Asgeirsson DO; Halfter K; Oertle P; Melo Herraiz E; Plodinec M; Jenoe P; Henrich PB
[Ad] Endereço:Department of Ophthalmology, University of Basel, Basel, Switzerland.
[Ti] Título:Diabetes-related changes in the protein composition and the biomechanical properties of human retinal vascular basement membranes.
[So] Source:PLoS One;12(12):e0189857, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Basement membranes (BMs) are specialized sheets of extracellular matrix that outline epithelial cell layers, muscle fibers, blood vessels, and peripheral nerves. A well-documented histological hallmark of progressing diabetes is a major increase in vascular BM thickness. In order to investigate whether this structural change is accompanied by a change in the protein composition, we compared the proteomes of retinal vascular BMs from diabetic and non-diabetic donors by using LC-MS/MS. Data analysis showed that seventeen extracellular matrix (ECM)-associated proteins were more abundant in diabetic than non-diabetic vascular BMs. Four ECM proteins were more abundant in non-diabetic than in diabetic BMs. Most of the over-expressed proteins implicate a complement-mediated chronic inflammatory process in the diabetic retinal vasculature. We also found an up-regulation of norrin, a protein that is known to promote vascular proliferation, possibly contributing to the vascular remodeling during diabetes. Many of the over-expressed proteins were localized to microvascular aneurisms. Further, the overall stoichiometry of proteins was changed, such that the relative abundance of collagens in BMs from diabetic patients was higher than normal. Biomechanical measurements of vascular BM flat mounts using AFM showed that their outer surface was softer than normal.
[Mh] Termos MeSH primário: Membrana Basal/metabolismo
Diabetes Mellitus/metabolismo
Proteínas do Olho/metabolismo
Vasos Retinianos/metabolismo
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Cromatografia Líquida
Seres Humanos
Microscopia de Força Atômica
Proteoma
Vasos Retinianos/patologia
Espectrometria de Massas em Tandem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Eye Proteins); 0 (Proteome)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180129
[Lr] Data última revisão:
180129
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171229
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0189857



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