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 | Acesso ao texto completo restrito à biblioteca da Embrapa Agricultura Digital. Para informações adicionais entre em contato com cnptia.biblioteca@embrapa.br. |
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Registro Completo |
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Biblioteca(s): |
Embrapa Agricultura Digital. |
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Data corrente: |
03/01/2014 |
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Data da última atualização: |
07/01/2014 |
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Tipo da produção científica: |
Artigo em Periódico Indexado |
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Autoria: |
BRAGHINI, C. A.; NESHICH, I. A. P.; NESHICH, G.; SOARDI, F. C.; MELLO, M. P. de; COSTA, V. P.; VASCONCELLOS, J. P. C. de; MELO, M. B. de. |
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Afiliação: |
CAROLINA AYUMI BRAGHINI, CBMEG/Unicamp; IZABELLA AGOSTINHO PENA NESHICH, CBMEG/Unicamp; GORAN NESHICH, CNPTIA; FERNANDA CAROLINE SOARDI, CBMEG/Unicamp; MARICILDA PALANDI DE MELLO, CBMEG/Unicamp; VITAL PAULINO COSTA, FCM/Unicamp; JOSÉ PAULO CABRAL DE VASCONCELLOS, FCM/Unicamp; MÔNICA BARBOSA DE MELO, CBMEG/Unicamp. |
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Título: |
New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family |
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Ano de publicação: |
2013 |
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Fonte/Imprenta: |
Gene, Amsterdam, v. 535, n. 1, p. 50-57, July 2013. |
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Idioma: |
Inglês |
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Conteúdo: |
Abstract. Mutations in the myocilin gene (MYOC) account for most cases of autosomal dominant juvenile-onset open-angle glaucoma (JOAG), an earlier and more severe form of POAG. We accessed seven members of a Brazilian JOAG family by clinical and molecular investigation. Four out of seven family members were diagnosed with JOAG. All of these patients presented high intraocular pressure and two of them were bilaterally blind. The disease onset varied from 20 to 30 years old. There was a nine-year-old family member who had not yet manifested the disease, although he was also a carrier of the mutation. Ophthalmologic examination included: evaluation of the visual field and optic disc, intraocular pressure measurement, and gonioscopy. The three exons and intron/exon junctions of the MYOC gene were screened for mutations through direct sequencing of PCR-amplified DNA fragments. Mutation screening revealed an in-frame mutation in the third exon of the MYOC gene: an insertion of six nucleotides between the cDNA positions 1187 and 1188 (c.1187_1188insCCCAGA, p.D395_E396insDP). This mutation presented an autosomal dominant pattern of inheritance, segregating with the disease in four family members for three generations, and it was absent in 60 normal controls. We also performed a computational structure modeling of olfactomedin-like domain of myocilin protein and conducted in silico analysis to predict the structural changes in the myocilin protein due to the presence of the mutation. These findings may be important for future diagnosis of other presymptomatic family members, as well as for the increase of the panel of MYOC mutations and their effects on phenotype. MenosAbstract. Mutations in the myocilin gene (MYOC) account for most cases of autosomal dominant juvenile-onset open-angle glaucoma (JOAG), an earlier and more severe form of POAG. We accessed seven members of a Brazilian JOAG family by clinical and molecular investigation. Four out of seven family members were diagnosed with JOAG. All of these patients presented high intraocular pressure and two of them were bilaterally blind. The disease onset varied from 20 to 30 years old. There was a nine-year-old family member who had not yet manifested the disease, although he was also a carrier of the mutation. Ophthalmologic examination included: evaluation of the visual field and optic disc, intraocular pressure measurement, and gonioscopy. The three exons and intron/exon junctions of the MYOC gene were screened for mutations through direct sequencing of PCR-amplified DNA fragments. Mutation screening revealed an in-frame mutation in the third exon of the MYOC gene: an insertion of six nucleotides between the cDNA positions 1187 and 1188 (c.1187_1188insCCCAGA, p.D395_E396insDP). This mutation presented an autosomal dominant pattern of inheritance, segregating with the disease in four family members for three generations, and it was absent in 60 normal controls. We also performed a computational structure modeling of olfactomedin-like domain of myocilin protein and conducted in silico analysis to predict the structural changes in the myocilin protein due to the presence of the mutation.... Mostrar Tudo |
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Palavras-Chave: |
Análises in silico; In-frame mutation; Juvenile-onset open-angle glaucoma; Mutação genética; Myocilin. |
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Thesagro: |
Glaucoma. |
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Thesaurus Nal: |
Mutation. |
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Categoria do assunto: |
X Pesquisa, Tecnologia e Engenharia |
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Marc: |
LEADER 02547naa a2200289 a 4500
001 1974842
005 2014-01-07
008 2013 bl uuuu u00u1 u #d
100 1 $aBRAGHINI, C. A.
245 $aNew mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family$h[electronic resource]
260 $c2013
520 $aAbstract. Mutations in the myocilin gene (MYOC) account for most cases of autosomal dominant juvenile-onset open-angle glaucoma (JOAG), an earlier and more severe form of POAG. We accessed seven members of a Brazilian JOAG family by clinical and molecular investigation. Four out of seven family members were diagnosed with JOAG. All of these patients presented high intraocular pressure and two of them were bilaterally blind. The disease onset varied from 20 to 30 years old. There was a nine-year-old family member who had not yet manifested the disease, although he was also a carrier of the mutation. Ophthalmologic examination included: evaluation of the visual field and optic disc, intraocular pressure measurement, and gonioscopy. The three exons and intron/exon junctions of the MYOC gene were screened for mutations through direct sequencing of PCR-amplified DNA fragments. Mutation screening revealed an in-frame mutation in the third exon of the MYOC gene: an insertion of six nucleotides between the cDNA positions 1187 and 1188 (c.1187_1188insCCCAGA, p.D395_E396insDP). This mutation presented an autosomal dominant pattern of inheritance, segregating with the disease in four family members for three generations, and it was absent in 60 normal controls. We also performed a computational structure modeling of olfactomedin-like domain of myocilin protein and conducted in silico analysis to predict the structural changes in the myocilin protein due to the presence of the mutation. These findings may be important for future diagnosis of other presymptomatic family members, as well as for the increase of the panel of MYOC mutations and their effects on phenotype.
650 $aMutation
650 $aGlaucoma
653 $aAnálises in silico
653 $aIn-frame mutation
653 $aJuvenile-onset open-angle glaucoma
653 $aMutação genética
653 $aMyocilin
700 1 $aNESHICH, I. A. P.
700 1 $aNESHICH, G.
700 1 $aSOARDI, F. C.
700 1 $aMELLO, M. P. de
700 1 $aCOSTA, V. P.
700 1 $aVASCONCELLOS, J. P. C. de
700 1 $aMELO, M. B. de
773 $tGene, Amsterdam$gv. 535, n. 1, p. 50-57, July 2013.
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Embrapa Agricultura Digital (CNPTIA) |
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Biblioteca(s): |
Embrapa Uva e Vinho. |
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Data corrente: |
02/08/2022 |
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Data da última atualização: |
02/08/2022 |
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Tipo da produção científica: |
Resumo em Anais de Congresso |
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Autoria: |
POLI, J. S.; SILVA, G. A. da; CAMARGO, U. A.; ZANUS, M. C.; BONA, G. DE; GURAK, P. D.; MORINI, M. A. L. |
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Afiliação: |
JANDORA SEVERO POLI, CNPUV; GILDO ALMEIDA DA SILVA, CNPUV; UMBERTO ALMEIDA CAMARGO, CNPUV; MAURO CELSO ZANUS, CNPUV; GICELE DE BONA, CNPUV; POLIANA DEYSE GURAK, CNPUV; MARIA ANTONIETA LOVISON MORINI, CNPUV. |
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Título: |
Teores de polifenóis, antocianas, capacidade antioxidante e intensidade de cor em diferentes cultivares e seleções de uva para suco. |
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Ano de publicação: |
2006 |
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Fonte/Imprenta: |
In: ENCONTRO DE INICIAÇÃO CIENTÍFICA DA EMBRAPA UVA E VINHO, 4., 2006, Bento Gonçalves. Resumos. Bento Gonçalves: Embrapa Uva e Vinho, 2006. p. 23 |
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Idioma: |
Português |
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Conteúdo: |
Os antioxidantes impedem a reação em cadeia provocada pela ação dos radicais livres, trazendo benefícios à saúde humana. Diminuem a oxidação de lipoproteínas de baixa densidade (LDL) e previnem doenças. Os polifenóis, particularmente os flavonóides, têm-se mostrado potentes antioxidantes em ensaios in vitro. Os flavonóides estão presentes na casca e sementes das uvas. As antocianas, pertencente ao grupo dos flavonóides, são responsáveis pela coloração de sucos de uva e de vinhos tintos. |
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Palavras-Chave: |
Flavonóides; Lipoproteínas de baixa densidade (LDL); Polifenóis; Radicais livres. |
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Thesagro: |
Antioxidante. |
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Categoria do assunto: |
F Plantas e Produtos de Origem Vegetal |
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URL: |
https://ainfo.cnptia.embrapa.br/digital/bitstream/doc/1145102/1/doc057-25.pdf
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Marc: |
LEADER 01384nam a2200241 a 4500
001 2145102
005 2022-08-02
008 2006 bl uuuu u00u1 u #d
100 1 $aPOLI, J. S.
245 $aTeores de polifenóis, antocianas, capacidade antioxidante e intensidade de cor em diferentes cultivares e seleções de uva para suco.$h[electronic resource]
260 $aIn: ENCONTRO DE INICIAÇÃO CIENTÍFICA DA EMBRAPA UVA E VINHO, 4., 2006, Bento Gonçalves. Resumos. Bento Gonçalves: Embrapa Uva e Vinho, 2006. p. 23$c2006
520 $aOs antioxidantes impedem a reação em cadeia provocada pela ação dos radicais livres, trazendo benefícios à saúde humana. Diminuem a oxidação de lipoproteínas de baixa densidade (LDL) e previnem doenças. Os polifenóis, particularmente os flavonóides, têm-se mostrado potentes antioxidantes em ensaios in vitro. Os flavonóides estão presentes na casca e sementes das uvas. As antocianas, pertencente ao grupo dos flavonóides, são responsáveis pela coloração de sucos de uva e de vinhos tintos.
650 $aAntioxidante
653 $aFlavonóides
653 $aLipoproteínas de baixa densidade (LDL)
653 $aPolifenóis
653 $aRadicais livres
700 1 $aSILVA, G. A. da
700 1 $aCAMARGO, U. A.
700 1 $aZANUS, M. C.
700 1 $aBONA, G. DE
700 1 $aGURAK, P. D.
700 1 $aMORINI, M. A. L.
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