Connexin 26
Mostrando 1-12 de 41 artigos, teses e dissertações.
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1. Screening of Connexin 26 in Nonsyndromic Hearing Loss
Introduction The first locus for nonsyndromic autosomal recessive hearing loss is on chromosome 13q11-22. The 35delGmutation is present in 80% of cases in which GJB2 is involved, which makes the study of this mutation very important. The viability and benefits of screening for mutations in the connexin 26 gene are now beginning to chan
Int. Arch. Otorhinolaryngol.. Publicado em: 2015-03
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2. Retinoic acid and cAMP inhibit rat hepatocellular carcinoma cell proliferation and enhance cell differentiation
Hepatocellular carcinoma (HCC) is the third highest cause of cancer death worldwide. In general, the disease is diagnosed at an advanced stage when potentially curative therapies are no longer feasible. For this reason, it is very important to develop new therapeutic approaches. Retinoic acid (RA) is a natural derivative of vitamin A that regulates important
Brazilian Journal of Medical and Biological Research. Publicado em: 2012-08
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3. A conexina 26 e sua relação com outras proteínas no órgão de Corti / The connexin 26 and its relationship with other proteins from the organ of Corti
A causa mais frequente de surdez de herança autossômica recessiva são as mutações no lócus DFNB1, onde estão os genes GJB2 e GJB6. Dentre os indivíduos com deficiência auditiva associada a esse lócus, 10% a 50% apresentam uma única mutação recessiva no gene GJB2, frequência muito superior à esperada em função da frequência de heterozigotos
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 04/11/2011
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4. Low-Intensity physical activity beneficially alters the ultrastructural renal morphology of spontaneously hypertensive rats
INTRODUCTION AND OBJECTIVE: Kidney disorders can cause essential hypertension, which can subsequently cause renal disease. High blood pressure is also common among those with chronic kidney disease; moreover, it is a well-known risk factor for a more rapid progression to kidney failure. Because hypertension and kidney function are closely linked, the present
Clinics. Publicado em: 2011
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5. A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family
Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing imp
Brazilian Journal of Medical and Biological Research. Publicado em: 2009-02
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6. Estudo molecular de genes envolvidos em disturbios de queratinização e perda auditiva / Molecualr study in keratinization disturb and hearing loss genes
Nos organismos superiores, a comunicação entre as células ocorre através de proteínas denominadas conexinas, implicadas na comunicação intercelular (gap junction), as quais permitem a transferência direta de pequenas moléculas e íons. Na pele desempenham um papel crucial na sinalização e diferenciação epidérmica. Na cóclea as gap junctions ex
Publicado em: 2008
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7. Estudo retrospectivo-sistemático e análise quantitativa da proliferação celular e apoptose; identificação da proteína conexina 43 e 26 aberrante em glândula perianal normal, hiperplásica e neoplásica em cães / Retrospective - systematic study and quantitative analysis of the cellular proliferation and apoptosis and identification of connexin 43 and aberrant 26 protein in normal, hyperplasic and neoplastic perianal glands in dogs
Two hundred and forty five neoplasms of the perianal glands of dogs from the archives of the Department of Pathology of the FMVZ/USP, 1984 to 2004, have been reviewed hystologically. Most of the cases (34%) were classified as moderately differentiated adenomas, group II, in males over 8 years of age, which showed an androgenic dependence of these neoplasms.
Publicado em: 2006
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8. Emissões otoacusticas evocadas por estímulo trasiente em recém-nascidas homozigotos normais e heterozigotos para a mutação 35delg no gene da conexina / Transient Evoked otoacoustic emissions in carriers and non-carriers 35delG neonates
ABSTRACT The many areas in public health are becoming more and more united, aiming to provide better quality of life to the patients. For this reason, Audiology and Genetic are working closely, due to research which relates genetic hearing loss to hearing evaluation tests. Mutations in gene GJB2, which encodes conexin protein 26 represent the main cause of g
Publicado em: 2006
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9. Determinação da frequencia dos alelos 35delG no gene da conexina 26 em amostras da população brasileira
Because of the complexity of the hearing mechanism, deafness can result from a wide variety of genetically determimid anomalies as well as from several environmental factors. In Brazil, the importance of hearing loss among congenital diseases is considerable, since it is present in 2 to 7 per 1,000 births, depending on the studied region. In the last 5 years
Publicado em: 2005
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10. Carcinogênese pulmonar em camundongos portadores de deleção em um dos alelos do gene da Cx43 / Lung carcinogenesis in mice with a deletion in one allele of Cx43 gene
Gap junctions are communicating protein channels formed between adjacent cells that allow the exchange of molecules and ions smaller than 1kDa; connexins are proteins that form these junctions. Studies in the literature have been showing the lower level of cell communication capacity and alterations in the expression and/or localization of connexins in neopl
Publicado em: 2005
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11. Perda auditiva genética
O progresso das pesquisas relacionadas à perda auditiva genética tem provocado um importante avanço do entendimento dos mecanismos moleculares que governam o desenvolvimento, a função, a resposta ao trauma e o envelhecimento do ouvido interno. Em países desenvolvidos, mais de 50% dos casos de surdez na infância é causada por alterações genéticas e
Revista Brasileira de Otorrinolaringologia. Publicado em: 2003-01
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12. Estudo de mutações no gene GJB3 como causa de deficiencia auditiva neurossensorial não-sindromica
Deafness is one of the most common sensory defects in the general population and its prevalence increases with age. In developed countries about 60% of hearing loss cases are due to genetic factors. In Brazil the majority of cases of hearing loss are due to environmental factors. However, the proportion of genetic causes tends to increase as a result of impr
Publicado em: 2003