Base de dados : LILACS
Pesquisa : D05.750.078.730 [Categoria DeCS]
Referências encontradas : 21 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 3 ir para página          

  1 / 21 LILACS  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: lil-771938
Autor: Xu, H; Ma, J; Wu, J; Chen, L; Sun, F; Qu, C; Zheng, D; Xu, S.
Título: Gene expression profiling analysis of lung adenocarcinoma
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;49(3):e4861, Mar. 2016. tab, graf.
Idioma: en.
Projeto: Health and Family Planning Commission of Heilongjiang Province.
Resumo: The present study screened potential genes related to lung adenocarcinoma, with the aim of further understanding disease pathogenesis. The GSE2514 dataset including 20 lung adenocarcinoma and 19 adjacent normal tissue samples from 10 patients with lung adenocarcinoma aged 45-73 years was downloaded from Gene Expression Omnibus. Differentially expressed genes (DEGs) between the two groups were screened using the t-test. Potential gene functions were predicted using functional and pathway enrichment analysis, and protein-protein interaction (PPI) networks obtained from the STRING database were constructed with Cytoscape. Module analysis of PPI networks was performed through MCODE in Cytoscape. In total, 535 upregulated and 465 downregulated DEGs were identified. These included ATP5D, UQCRC2, UQCR11 and genes encoding nicotinamide adenine dinucleotide (NADH), which are mainly associated with mitochondrial ATP synthesis coupled electron transport, and which were enriched in the oxidative phosphorylation pathway. Other DEGs were associated with DNA replication (PRIM1, MCM3, and RNASEH2A), cell surface receptor-linked signal transduction and the enzyme-linked receptor protein signaling pathway (MAPK1, STAT3, RAF1, and JAK1), and regulation of the cytoskeleton and phosphatidylinositol signaling system (PIP5K1B, PIP5K1C, and PIP4K2B). Our findings suggest that DEGs encoding subunits of NADH, PRIM1, MCM3, MAPK1, STAT3, RAF1, and JAK1 might be associated with the development of lung adenocarcinoma.
Descritores: Adenocarcinoma/genética
Perfilação da Expressão Gênica/métodos
Neoplasias Pulmonares/genética
Proteínas dos Microfilamentos/genética
-Regulação para Baixo/genética
Redes Reguladoras de Genes
Proteína Quinase 1 Ativada por Mitógeno/genética
NAD/genética
Mapas de Interação de Proteínas/genética
Proteínas Proto-Oncogênicas c-raf/genética
Regulação para Cima/genética
Limites: Humanos
Masculino
Feminino
Pessoa de Meia-Idade
Idoso
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  2 / 21 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: lil-751349
Autor: Cavalcante, F.S.; Abad, E.D.; Lyra, Y.C.; Saintive, S.B.; Ribeiro, M.; Ferreira, D.C.; Santos, K.R.N. dos.
Título: High prevalence of methicillin resistance and PVL genes among Staphylococcus aureus isolates from the nares and skin lesions of pediatric patients with atopic dermatitis
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;48(7):588-594, 07/2015. tab.
Idioma: en.
Projeto: FAPERJ; . CNPq; . CAPES; . FUJB; . PRONEX.
Resumo: Staphylococcus aureus is highly prevalent among patients with atopic dermatitis (AD), and this pathogen may trigger and aggravate AD lesions. The aim of this study was to determine the prevalence of S. aureus in the nares of pediatric subjects and verify the phenotypic and molecular characteristics of the isolates in pediatric patients with AD. Isolates were tested for antimicrobial susceptibility, SCCmec typing, and Panton-Valentine Leukocidin (PVL) genes. Lineages were determined by pulsed-field gel electrophoresis and multilocus sequence typing (MLST). AD severity was assessed with the Scoring Atopic Dermatitis (SCORAD) index. Among 106 patients, 90 (85%) presented S. aureus isolates in their nares, and 8 also presented the pathogen in their skin infections. Two patients had two positive lesions, making a total of 10 S. aureus isolates from skin infections. Methicillin-resistant S. aureus (MRSA) was detected in 24 (26.6%) patients, and PVL genes were identified in 21 (23.3%), including 6 (75%) of the 8 patients with skin lesions but mainly in patients with severe and moderate SCORAD values (P=0.0095). All 24 MRSA isolates were susceptible to trimethoprim/sulfamethoxazole, while 8 isolates had a minimum inhibitory concentration (MIC) to mupirocin >1024 μg/mL. High lineage diversity was found among the isolates including USA1100/ST30, USA400/ST1, USA800/ST5, ST83, ST188, ST718, ST1635, and ST2791. There was a high prevalence of MRSA and PVL genes among the isolates recovered in this study. PVL genes were found mostly among patients with severe and moderate SCORAD values. These findings can help clinicians improve the therapies and strategies for the management of pediatric patients with AD.
Descritores: Nefropatias/metabolismo
Rim/metabolismo
Podócitos/metabolismo
Transdução de Sinais
-Células Cultivadas
Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/metabolismo
Proteínas Quinases Dependentes de AMP Cíclico/metabolismo
Expressão Gênica
Redes Reguladoras de Genes
Immunoblotting
Nefropatias/induzido quimicamente
Nefropatias/genética
Rim/patologia
Rim/fisiopatologia
Microscopia Eletrônica
Proteínas de Membrana/genética
Proteínas de Membrana/metabolismo
Proteínas dos Microfilamentos/genética
Proteínas dos Microfilamentos/metabolismo
Puromicina
Podócitos/patologia
Podócitos/ultraestrutura
Proteômica/métodos
Ratos Sprague-Dawley
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Limites: Animais
Masculino
Camundongos
Ratos
Tipo de Publ: Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Responsável: BR1.1 - BIREME


  3 / 21 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: lil-747147
Autor: Silva, Daniela da; Lopez, Priscila; Mantovani, Jair Cortez.
Título: Auditory Brainstem Response in Term and Preterm Infants with Neonatal Complications: The Importance of the Sequential Evaluation
Fonte: Int. arch. otorhinolaryngol. (Impr.);19(2):161-165, Apr-Jun/2015. tab.
Idioma: en.
Resumo: Introduction Literature data are not conclusive as to the influence of neonatal complications in the maturational process of the auditory system observed by auditory brainstem response (ABR) in infants at term and preterm. Objectives Check the real influence of the neonatal complications in infants by the sequential auditory evaluation. Methods Historical cohort study in a tertiary referral center. A total of 114 neonates met inclusion criteria: treatment at the Universal Neonatal Hearing Screening Program of the local hospital; at least one risk indicator for hearing loss; presence in both evaluations (the first one after hospital discharge from the neonatal unit and the second one at 6 months old); all latencies in ABR and transient otoacoustic emissions present in both ears. Results The complications that most influenced the ABR findings were Apgar scores less than 6 at 5 minutes, gestational age, intensive care unit stay, peri-intraventricular hemorrhage, and mechanical ventilation. Conclusion Sequential auditory evaluation is necessary in premature and term newborns with risk indicators for hearing loss to correctly identify injuries in the auditory pathway. .
Descritores: Carcinoma in Situ/metabolismo
Carcinoma Ductal Pancreático/metabolismo
Proteínas de Transporte/metabolismo
Proteínas dos Microfilamentos/metabolismo
Neoplasias Pancreáticas/metabolismo
Fatores de Transcrição/metabolismo
-Linhagem Celular Tumoral
Carcinoma in Situ/genética
Carcinoma in Situ/patologia
Carcinoma Ductal Pancreático/genética
Carcinoma Ductal Pancreático/mortalidade
Carcinoma Ductal Pancreático/secundário
Proteínas de Transporte/genética
Modelos Animais de Doenças
Progressão da Doença
Transição Epitelial-Mesenquimal
Camundongos Knockout
Proteínas dos Microfilamentos/deficiência
Proteínas dos Microfilamentos/genética
Invasividade Neoplásica
Recidiva Local de Neoplasia
Estadiamento de Neoplasias
Prognóstico
Neoplasias Pancreáticas/genética
Neoplasias Pancreáticas/mortalidade
Neoplasias Pancreáticas/patologia
Pseudópodes/metabolismo
Interferência de RNA
Análise de Sobrevida
Fatores de Tempo
Transfecção
Fatores de Transcrição/genética
Limites: Animais
Humanos
Camundongos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  4 / 21 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Loyola, Adriano Mota
Texto completo
Id: lil-746541
Autor: COSTA, Liana Cristina Melo Carneiro; LEITE, Camila Ferreira; CARDOSO, Sérgio Vitorino; LOYOLA, Adriano Mota; FARIA, Paulo Rogério de; SOUZA, Paulo Eduardo Alencar; HORTA, Martinho Campolina Rebello.
Título: Expression of epithelial-mesenchymal transition markers at the invasive front of oral squamous cell carcinoma
Fonte: J. appl. oral sci;23(2):169-178, Mar-Apr/2015. tab, graf.
Idioma: en.
Projeto: National Council for Scientific and Technological Development; . PUC Minas.
Resumo: Oral squamous cell carcinoma (OSCC) is one of the most common malignances. In epithelial-mesenchymal transition (EMT), epithelial cells switch to mesenchymal-like cells exhibiting high mobility. This migratory phenotype is significant during tumor invasion and metastasis. Objective : The aim of this study is to evaluate the expression of the EMT markers E-cadherin, N-cadherin and vimentin in OSCC. Material and Methods : Immunohistochemical detection of E-cadherin, N-cadherin and vimentin was performed on 20 OSCC samples. Differences in the expression of each protein at the invasive front (IF) and in the central/superficial areas (CSA) of the tumor were assessed. Differences in the expression of each protein at the IF of both histologically high- and low-invasive OSCCs were evaluated. Associations among expression of proteins at the IF were assessed. Correlations between the expression levels of each protein at the IF and the tumor stage and clinical nodal status were also evaluated. Results : Reduced expression of E-cadherin was detected in 15 samples (75%). E-cadherin expression was reduced at the IF when compared to the CSA and in high-invasive tumors when compared to low-invasive tumors. All samples were negative for N-cadherin, even though one sample showed an inconspicuous expression. Positive expression of vimentin was observed in 6 samples (30%). Nevertheless, there was no difference in vimentin expression between the IF and the CSA regions or between the low- and high-invasive tumors. Furthermore, no association was observed among protein expression levels at the IF. Finally, no correlations were observed between each protein’s expression levels and tumor stage or clinical nodal status. Conclusions : Reduced E-cadherin expression at the IF and its association with histological invasiveness suggest that this protein is a noteworthy EMT marker in OSCC. Although vimentin was also detected as an EMT marker, its expression was ...
Descritores: Endossomos/metabolismo
Proteínas dos Microfilamentos/metabolismo
Chaperonas Moleculares/metabolismo
-Western Blotting
Eletroforese em Gel de Poliacrilamida
Células HeLa
Imunoprecipitação
Microscopia de Fluorescência
Proteínas dos Microfilamentos/genética
Chaperonas Moleculares/genética
Limites: Humanos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  5 / 21 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Saúde Pública
Rotenberg, Lúcia
Texto completo
Id: lil-744836
Autor: Robaina, Jaqueline Rodrigues; Lopes, Claudia S.; Rotenberg, Lúcia; Faerstein, Eduardo.
Título: Fatores psicossociais e socioeconômicos relacionados à insônia e menopausa: Estudo Pró-Saúde / Psychosocial and socioeconomic factors related to insomnia and menopause: Pró-Saúde Study / Factores psicosociales y socioeconómicos relacionados con el insomnio y la menopausia: Estudio Pro-Salud
Fonte: Cad. saúde pública = Rep. public health;31(3):597-606, 03/2015. tab.
Idioma: pt.
Resumo: Foi avaliada a associação entre menopausa e insônia e a influência de variáveis socioeconômicas e psicossociais, em estudo transversal com 2.190 funcionárias de uma universidade (Estudo Pró-Saúde), a partir de um questionário autopreenchível com variáveis sobre menopausa, insônia, transtorno mental comum, eventos de vida estressantes, apoio social e variáveis socioeconômicas. Odds ratios foram calculados por meio de regressão logística multivariada, com desfecho politômico. Após ajuste para potenciais confundidoras sociodemográficas, mulheres na menopausa há mais de 60 meses apresentaram maior chance de reportar queixas de sono frequentes (OR entre 1,53 e 1,86) do que as que estavam na menopausa há menos de 60 meses. Após os ajustes, no primeiro grupo, para as variáveis psicossociais, a magnitude dos ORs reduziu para 1,53 (IC95%: 0,92-2,52) para dificuldade em iniciar o sono, 1,81 (IC95%: 1,09-2,98) para dificuldade em manter o sono e 1,71 (IC95%: 1,08-2,73) para queixa geral de insônia. Fatores psicossociais podem mediar a manifestação da insônia em mulheres na menopausa.

This study evaluated the association between insomnia and menopausal status and the influence of socioeconomic and psychosocial variables on this association in a cross-sectional analysis of 2,190 university employees (the Pró-Saúde Study). A self-administered questionnaire was used, covering menopausal status, complaints of insomnia, common mental disorders, stressful life events, social support, and socioeconomic variables. Odds ratios were calculated using logistic regression with a polytomous outcome. After adjusting for potential socio-demographic confounders, women who had entered menopause more than 60 months previously were more likely to report complaints with sleep (OR 1.53-1.86) as compared to women in menopause for less than 60 months. After adjusting for psychosocial variables, in the first group the ORs decreased to 1.53 (95%CI: 0.92-2.52) for difficulty initiating sleep, 1.81 (95%CI: 1.09-2.98) for difficulty maintaining sleep, and 1.71 (95%CI: 1.08-2.73) for general complaints of insomnia. Psychosocial factors can mediate the manifestation of insomnia among menopausal women.

En este estudio se evaluó la asociación entre insomnio y menopausia y la influencia de las variables socioeconómicas y psicosociales, en un estudio transversal con 2.190 mujeres de una universidad (Estudio Pro-Salud), a partir de un cuestionario autoadministrado con variables de la menopausia, insomnio, trastornos mentales, situaciones de estrés vital, apoyo social y variables socioeconómicas. Se calcularon los odds ratio mediante regresión logística multivariante con desenlace politómico. Después de ajustar por factores de confusión sociodemográficos potenciales, las mujeres menopáusicas desde hace más de 60 meses fueron más propensas a reportar quejas frecuentes de sueño (OR entre 1,53 y 1,86) que las menopáusicas hace menos de 60 meses. Después de los ajustes, en el primer grupo, para las variables psicosociales la magnitud de los OR se redujo a 1,53 (IC95%: 0,92-2,52) para la dificultad para iniciar el sueño, un 1,81 (IC95%: 1,09-2,98) para mantener el sueño y un 1,71 (IC95%: 1,08-2,73) para las quejas de insomnio en general. Los factores psicosociales pueden mediar en la manifestación del insomnio en las mujeres menopáusicas.
Descritores: Córtex Cerebral/metabolismo
Proteínas de Drosophila/metabolismo
Proteínas dos Microfilamentos/metabolismo
Microtúbulos/metabolismo
Neurogênese
Neurônios/metabolismo
Pseudópodes/metabolismo
-Actinas/metabolismo
Linhagem Celular Tumoral
Células Cultivadas
Córtex Cerebral/embriologia
Drosophila
Proteínas de Drosophila/genética
/metabolismo
EUKARYOTIC INITIATION FACTOR-ABDOMEN/metabolismo
Cones de Crescimento/metabolismo
Mutação
MICE, INBRED CABDOMENABDOMINAL INJURIESBL
Proteínas dos Microfilamentos/genética
Interferência de RNA
Limites: Animais
Camundongos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  6 / 21 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: lil-676272
Autor: Zhang, Heng; Liu, Limei; Yang, Zhong; Pan, Jinhong; Chen, Zhiwen; Fang, Qiang; Li, Weibin; Li, Longkun; Lu, Gengsheng; Zhou, Zhansong.
Título: P2X7 receptor mediates activation of microglial cells in prostate of chemically irritated rats
Fonte: Int. braz. j. urol;39(2):276-285, Mar-Apr/2013. tab, graf.
Idioma: en.
Projeto: National Natural Science Foundation.
Resumo: Purpose Evidence shows that adenosine triphosphate (ATP) is involved in the transmission of multiple chronic pain via P2X7 receptor. This study was to investigate the P2X7 and microglial cells in the chronic prostatitis pain. Materials and Methods Rats were divided into control group and chronic prostatitis group (n = 24 per group). A chronic prostatitis animal model was established by injecting complete Freund's adjuvant (CFA) to the prostate of rats, and the thermal withdrawal latency (TWL) was detected on days 0, 4, 12 and 24 (n = 6 at each time point in each group). Animals were sacrificed and the pathological examination of the prostate, detection of mRNA expression of P2X7 and ionized calcium binding adaptor molecule 1 (IBA-1) and measurement of content of tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) in the dorsal horn of L5-S2 spinal cord were performed on days 0, 4, 12 and 24. In addition, the content of TNF-α and IL-1β in the dorsal horn of L5-S2 spinal cord was measured after intrathecal injection of inhibitors of microglial cells and/or P2X7 for 5 days. Results The chronic prostatitis was confirmed by pathological examination. The expression of P2X7 and IBA-1 and the content of TNF-α and IL-1β in rats with chronic prostatitis were significantly higher than those in the control group. On day 4, the expressions of pro-inflammatory cytokines became to increase, reaching a maximal level on day 12 and started to reduce on day 24, but remained higher than that in the control group. Following suppression of microglial cells and P2X7 receptor, the secretion of TNF-α and IL-1β was markedly reduced. Conclusion In chronic prostatitis pain, the microglial cells and P2X7 receptor are activated resulting in the increased expression of TNF-α and IL-1β in the L5-S2 spinal cord, which might attribute to the maintenance and intensification of pain in chronic prostatitis. .
Descritores: Microglia/citologia
Microglia/metabolismo
Próstata/metabolismo
Prostatite/metabolismo
/fisiologia
RECEPTORS, PURINERGIC PTEMEFOSXABDOMINAL INJURIES/fisiologia
-Trifosfato de Adenosina/metabolismo
Proteínas de Ligação ao Cálcio/metabolismo
Dor Crônica/metabolismo
Interleucina-1beta/metabolismo
Proteínas dos Microfilamentos/metabolismo
Medição da Dor
Próstata/patologia
Prostatite/patologia
Distribuição Aleatória
Reação em Cadeia da Polimerase Via Transcriptase Reversa
RNA Mensageiro/análise
Medula Espinal/metabolismo
Fator de Necrose Tumoral alfa
Limites: Animais
Masculino
Ratos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  7 / 21 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: lil-624482
Autor: Sá, Mauro Paes Leme de.
Título: A aorta, o tecido elástico e a necrose cística da média / The aorta, the elastic tissue and cystic medial necrosis
Fonte: Rev. bras. cir. cardiovasc;26(1):III-V, jan.-mar. 2011.
Idioma: pt.
Descritores: Aorta
Aneurisma da Aorta Torácica
Cistos
Tecido Elástico
Elastina/fisiologia
-Elastina/genética
Proteínas dos Microfilamentos/fisiologia
Limites: Humanos
Tipo de Publ: Editorial
Responsável: BR1.1 - BIREME


  8 / 21 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Lima, Antonio Adilson Soares de
Texto completo
Id: lil-604301
Autor: Mattioli, Tatiana Maria Folador; Silva, Silvana da; Grégio, Ana Maria Trindade; Machado, Maria Ângela Naval; Lima, Antônio Adilson Soares de; Alanis, Luciana Reis Azevedo.
Título: The effects of antidepressants and pilocarpine on rat parotid glands: an immunohistochemical study
Fonte: Clinics;66(9):1605-1610, 2011. ilus, tab.
Idioma: en.
Resumo: OBJECTIVES: To evaluate the effects of antidepressants and pilocarpine on the quantity of myoepithelial cells and on the proliferation index of the epithelial cells of rat parotid glands. INTRODUCTION: Hyposalivation, xerostomia, and alterations in saliva composition are important clinical side effects related to the use of antidepressants. METHODS: Ninety male Wistar rats were allocated to nine groups. The control groups received saline for 30 (group C30) or 60 days (group C60) or pilocarpine for 60 days (group Pilo). The experimental groups were administered fluoxetine (group F30) or venlafaxine for 30 days (group V30); fluoxetine (group FS60) or venlafaxine (group VS60) with saline for 60 days; or fluoxetine (group FP60) or venlafaxine (group VP60) with pilocarpine for 60 days. Parotid gland specimens were processed, and the immunohistochemical expression of calponin and proliferating cell nuclear anti-antigen on the myoepithelial and parenchymal cells, respectively, was evaluated. Analysis of variance (ANOVA), Tukey HSD and Games-Howell tests were applied to detect differences among groups (p<0.05). RESULTS: Compared with the controls, chronic exposure to antidepressants was associated with an increase in the number of positively stained cells for calponin. In addition, venlafaxine administration for 30 days was associated with an increase in the number of positively stained cells for proliferating cell nuclear anti-antigen. Fluoxetine and pilocarpine (group FP60) induced a significant decrease in the number of positively stained cells for calponin compared with all other groups. CONCLUSIONS: The number of positively stained cells for calponin increased after chronic administration of antidepressants. The proliferation index of the epithelial cells of rat parotid glands was not altered by the use of antidepressants for 60 days.
Descritores: Antidepressivos/farmacologia
Proteínas de Ligação ao Cálcio/metabolismo
Células Epiteliais/efeitos dos fármacos
Proteínas dos Microfilamentos/metabolismo
Glândula Parótida/efeitos dos fármacos
Pilocarpina/farmacologia
Antígeno Nuclear de Célula em Proliferação/metabolismo
-Análise de Variância
Proliferação de Células/efeitos dos fármacos
Cicloexanóis/farmacologia
Células Epiteliais/metabolismo
Células Epiteliais/patologia
Fluoxetina/farmacologia
Agonistas Muscarínicos/farmacologia
Glândula Parótida/citologia
Glândula Parótida/metabolismo
Distribuição Aleatória
Ratos Wistar
Fatores de Tempo
Limites: Animais
Masculino
Ratos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


  9 / 21 LILACS  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo SciELO Brasil
Texto completo
Id: lil-595718
Autor: Teixeira, L. V. S; Mandelbaum, K. L; Pereira, L. V; Perez, A. B. A.
Título: Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;44(8):793-800, Aug. 2011. tab.
Idioma: en.
Resumo: Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability. Although mutations in the FBN1 gene have been recognized as the cause of the disease, more recently other loci have been associated with MFS, indicating the genetic heterogeneity of this disease. We addressed the issue of genetic heterogeneity in MFS by performing linkage analysis of the FBN1 and TGFBR2 genes in 34 families (345 subjects) who met the clinical diagnostic criteria for the disease according to Ghent. Using a total of six microsatellite markers, we found that linkage with the FBN1 gene was observed or not excluded in 70.6 percent (24/34) of the families, and in 1 family the MFS phenotype segregated with the TGFBR2 gene. Moreover, in 4 families linkage with the FBN1 and TGFBR2 genes was excluded, and no mutations were identified in the coding region of TGFBR1, indicating the existence of other genes involved in MFS. Our results suggest that the genetic heterogeneity of MFS may be greater that previously reported.
Descritores: Heterogeneidade Genética
Ligação Genética/genética
Síndrome de Marfan/genética
Proteínas dos Microfilamentos/genética
Fator de Crescimento Transformador beta/genética
-Distribuição de Qui-Quadrado
Estudos de Coortes
Marcadores Genéticos
Escore Lod
Taxa de Mutação
Síndrome de Marfan/diagnóstico
Limites: Feminino
Humanos
Masculino
Responsável: BR1.1 - BIREME


  10 / 21 LILACS  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
Id: lil-568131
Autor: García, Elizabeth; Jay, David.
Título: Filamina plaquetaria: una proteína del citoesqueleto integradora de la función celular / Platelet filamin: a cytoskeletal protein involved in cell signal integration and function
Fonte: Arch. cardiol. Méx;76(supl.4):S67-S75, oct.-dic. 2006.
Idioma: es.
Resumo: Activation of cellular receptors by diverse stimuli induces dramatic changes in shape and function to respond to the new circumstances of the cell. This modified behavior depends on the reorganization of the peripheral actin meshwork. An outstanding example of these processes can be found in platelets, from which much of the information available on cytoskeletal function has been obtained. Among the many actin-crosslinking proteins like spectrin, fimbrin or alpha actinin, filamin a (FLNa) emerges as the one with the highest potential in initiating the polimerization of actin filaments (F-actin) during the formation of tridimensional actin gels. FLNa also links actin filaments to the cytosolic domain of many membrane glycoproteins in platelets through its C-terminal region. In addition to participating in cell shape changes, FLNa is a scaffoldding protein that recruits numerous proteins involved in a completely different set of functions, including signal transduction, gene transcription regulation, and receptor translocation; however, the physiological role of FLNa in these processes has remained elusive. The purpose of the present communication is to briefly describe the characteristics of the macromolecules able to interact with FLNa and to discuss a possible role of FLNa during the transduction of signals from those molecular elements in platelets.
Descritores: Plaquetas/fisiologia
Proteínas Contráteis/fisiologia
Proteínas do Citoesqueleto/fisiologia
Proteínas dos Microfilamentos/fisiologia
Ativação Plaquetária
Glicoproteínas da Membrana de Plaquetas/fisiologia
Receptores de Superfície Celular/fisiologia
Transdução de Sinais
-Actinas/fisiologia
Proteínas Contráteis
Proteínas Contráteis
Proteínas do Citoesqueleto
Proteínas do Citoesqueleto
Drosophila
Integrinas/fisiologia
Proteínas dos Microfilamentos
Proteínas dos Microfilamentos
Fosforilação
Ativação Plaquetária/fisiologia
Glicoproteínas da Membrana de Plaquetas
Receptores de Superfície Celular
Transdução de Sinais/fisiologia
Limites: Animais
Humanos
Tipo de Publ: Estudo Comparativo
Revisão
Responsável: BR1.1 - BIREME



página 1 de 3 ir para página          
   


Refinar a pesquisa
  Base de dados : Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde