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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 02548naa 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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| 1. |  | OMOTO, C.; FITT, G.; CAPRIO, M.; DENNEHY.; MAIA, A. H.; WAQUIL, J. M.; RAMIRO, Z. A.; ANDOW, D. Manejo da resistência de pragas a plantas geneticamente modificadas. In: CONGRESSO BRASILEIRO DE ENTOMOLOGIA, 20., 2004, Gramado. Programa e resumos... Gramado: Sociedade Entomológica do Brasil, 2004. p. 146.| Tipo: Resumo em Anais de Congresso |
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| 2. | | FERREIRA, N. F.; SOUZA, R. F. A.; MAIA, A. L. M.; GERHARDT, I. R.; DANTE, R. A.; LANA, U. G. de P.; SOUSA, S. M. de. Bacterial strains isolated from Vellozia spp. promote maize growth. In: ANNUAL MAIZE GENETICS MEETING, 67., 2025, St. Louis. Program and abstracts. Beltsville: USDA, 2025. p. 77.| Tipo: Resumo em Anais de Congresso |
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| 3. | | FERREIRA, N. F; SOUZA, R. F. A. de; MAIA, A. L. M.; GERHARDT, I. R.; DANTE, R. A.; LANA, U. G. de P.; SOUSA, S. M. de. Caracterização de estirpes bacterianas isoladas de Vellozia spp. com potencial para promoção de crescimento de plantas. In: CONGRESSO FERTBRASIL, 1., 2024, Campinas. Inovação em fertilizantes e nutrientes para a agricultura tropical: anais [...]. Rio de Janeiro: Embrapa Solos, 2024. p. 23. (Embrapa Solos. Eventos técnicos & científicos, 1).| Tipo: Resumo em Anais de Congresso |
| Biblioteca(s): Embrapa Agricultura Digital; Embrapa Milho e Sorgo. |
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| 4. | | FITT, G. P.; OMOTO, C.; MAIA, A. H.; WAQUIL, J. M.; CAPRIO, M.; OKECH, M. A.; CIA, E.; HUAN, N. H.; ANDOW, D. A. Resistance risks of Bt cotton and their management in Brazil. In: HILBECK, A.; ANDOW, D.A.; FONTES, E. M. G. (Ed.). Environmental risk assessment of genetically modified organisms. Wallingford: CAB International, 2006. v. 2, p. 300-345.| Tipo: Capítulo em Livro Técnico-Científico |
| Biblioteca(s): Embrapa Milho e Sorgo. |
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| 5. | | MAIA, A. L. M.; TRINDADE, R. dos S.; OLIVEIRA-PAIVA, C. A.; GOMES, E. A.; LANA, U. G. de P.; SOUSA, S. M. de; SANTOS, J. W. M. dos; SOUZA, R. F. de A.; SILVA, D. V. A. da; OLIVEIRA, I. F. de. Resposta de genótipos de milho à inoculação com bactérias promotoras do crescimento de plantas. In: SEMINÁRIO DE INICIAÇÃO CIENTÍFICA DA EMBRAPA MILHO E SORGO PIBIC/CNPq, 21., 2023, Sete Lagoas. Anais [...]. Sete Lagoas: Embrapa Milho e Sorgo, 2025. p. 98-103.| Tipo: Artigo em Anais de Congresso |
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