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| Registros recuperados : 190 | |
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| 102. | | VINCENTZ, M.; LEITE, A.; MATTAR, S. C. M. da; NESHICH, G.; BARROS, L.; WEINBERG, D.; ALMEIDA, E. R. de; PAES, C. M. de; ARAGAO, F.; GANDER, E. S. ACGT and vicilin core sequences in an essential seed specific promoter region from Brazil nut albumin gene recognized by the opaque-2 regulatory protein. In: ENCUENTRO LATINO AMERICANO DE BIOTECNOLOGIOA VEGETAL, 2.,1995, Puerto Iguazu, Argentina. REDBIOS95. [S.1.:s.n.],1995. n.D-23.| Biblioteca(s): Embrapa Recursos Genéticos e Biotecnologia. |
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| 103. | | VINCENTZ, M.; LEITE, A.; NESHICH, G.; VRIED, G.; MATTAR, C.; BARROS, L.; WEINBERG, D.; ALMEIDA, E. R. de; PAES de CARVALHO, M.; ARAGÃO, F.; GANDER, E. ACGT and vicilin core sequences in a promoter domain required for seed-specific expression of a 2S storage protein gene are recognized by the opaque-2 regulatory protein. Plant Molecular Biology, v. 34, n. 6, p. 879-889, 1997.| Biblioteca(s): Embrapa Recursos Genéticos e Biotecnologia. |
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| 104. | | NARCISO, M. G.; YAMAGISHI, M. E. B.; QUINAGLIA, T.; SANTOS, E. H. dos; VIEIRA, F. D.; JARDINE, J. G.; MAZONI, I.; FALCAO, P. R. K.; NESHICH, G. Aspectos computacionais da análise da co-evolução de aminoácidos que pertencem a uma proteína qualquer. Campinas: Embrapa Informática Agropecuária, 2006. 4 p. (Embrapa Informática Agropecuária. Comunicado técnico, 77). Na publicação: Goran Neshich.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 105. | | NARCISO, M. G.; NESHICH, G.; YAMAGISHI, M. E. B.; FALCÃO, P.; SANTOS, E. H. dos; VIEIRA, F. D.; JARDINE, J. G.; MAZONI, I. Aspectos computacionais da análise da co-evolução de aminoácidos que pertencem a uma proteína qualquer usando o software Sting. In: CONGRESSO DE COMPUTAÇÃO DO SUL DE MATO GROSSO, 2., 2006, Rondonópolis. Computação e educação: anais. Rondonópolis: UFMT, 2006. p. 166-175. COMPSULMT 2006.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 106. | | KUSER, P.; YAMAGISHI, M. E. B.; OLIVEIRA, S. R. M.; MAZONI, I.; SANTOS, E. H. dos; VIEIRA, F. D.; JARDINE, J. G.; BORRO, L. C.; NESHICH, G. BlueStar STING - a multiplatform environment for protein structure analysis. In: ANNUAL INTERNATIONAL CONFERENCE ON INTELLIGENT SYSTEMS FOR MOLECULAR BIOLOGY, 14.; ANNUAL AB3C CONFERENCE, 2., 2006, Fortaleza. Conference Program... Fortaleza: ISCB, 2006. Não paginado. ISMB, X-MEETING 2006. Poster I-22. Na publicação: Paula Kuser, Stanley R. M. Oliveira, Edgard H. Santos.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 107. | | SILVA; C. M. da; ROCHA, T. L.; MARCELINO, L. H.; SOARES, F. X. S.; GANDER, E.; SAMPAIO, M. J. A. M.; CASTRO, L. A. B. de; NESHICH, G. Brazil nut 2s storage albumin isoform purification and circular dichroism assisted secondary structure confirmation. In: INTERNATIONAL SYMPOSIUM ON CRYSTALLOGRAPHY AND MOLECULAR BIOLOGY, 1990, Guaruja, SP. Abstracts. [S.l.]: Institute of Advanced Studies, Sao Carlos: Universidade Federal de Sao Carlos, 1990. PS1-04.| Biblioteca(s): Embrapa Recursos Genéticos e Biotecnologia. |
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| 108. | | HIGA, R. H.; CRUZ, S. A. B. da; FALCAO, P. R. K.; YAMAGISHI, M. E. B.; FILETO, R.; MANCINI, A. L.; NESHICH, G. Building multiple sequence alignments with a flavour of HSSP alignments. In: X-MEETING; INTERNATIONAL CONFERENCE OF THE AB3C, 1., 2005, Caxambu. [Proceedings...]. [S.l.]: Associação Brasileira de Bioinformática e Biologia Computacional, 2005. p. 28. X-meeting 2005. Presented Posters. Na publicação: Paula Regina Kuser.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 109. | | CARVALHO, P. G. B. de; BLOCH JUNIOR, C.; MORHY, L.; SILVA, M. C. M. da; MELLO, L. V. de; NESHICH, G. The amino acid sequence of the Phaseolus vulgaris var. "Fogo na Serra" inhibitor and interactive surface modeling for the enzyme inhibitor complex. Journal of Protein Chemistry, New York, v.15, n.6, p.591-598, 1996.| Biblioteca(s): Embrapa Recursos Genéticos e Biotecnologia. |
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| 110. | | VIART, B.; DIAS-LOPES, C.; KOZLOVA, E.; OLIVEIRA, C. F. B.; NGUYEN, C.; NESHICH, G.; CHÁVEZ-OLÓRTEGUI, C.; MOLINA, F.; FELICORI, L. F. EPI-peptide designer: a tool for designing peptide ligand libraries based on epitope-paratope interactions. Bioinformatics, v. 32, n. 10, p. 1462-1470, 2016.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 111. | | SILVA, M. C. M.; TEIXEIRA, F. R.; CRUZ, C. C. M.; COUTINHO, M. V.; ROCHA, T. L.; OLIVEIRA-NETO, O. B.; NESHICH, G.; GROSSI DE SÁ, M. F. Bean shuffled alpha-amylase inhibitors to investigate specificity of binding to insect alpha-amylases. In: SIMPÓSIO BRASILEIRO DE GENÉTICA MOLECULAR DE PLANTAS, 1., 2007, Natal, Rio Grande do Norte. [Resumos...]. [S.l]: Monsanto; Brasília: CNPq, 2007. p. 26.| Biblioteca(s): Embrapa Recursos Genéticos e Biotecnologia. |
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| 113. | | MELO, R. C.; RIBEIRO, C.; MURRAY, C. S.; VELOSO, C. J. M.; SILVEIRA, C. H. da; NESHICH, G.; MEIRA JUNIOR, W.; CARCERONI, R. L.; SANTORO, M. M. Finding protein-protein interaction patterns by contact map matching. Genetics and Molecular Research, v. 6, n. 4, p. 946-963, 2007.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 114. | | DIAS-LOPES, C.; NESHICH, I. A. P.; NESHICH, G.; ORTEGA, J. M.; GRANIER, C.; CHÁVEZ-OLORTEGUI, C.; MOLINA, F.; FELICORI, L. Identification of new Sphingomyelinases D in pathogenic fungi and other pathogenic organisms. PLoS ONE, San Francisco, v. 8, n. 11, p. 1-12, 2013.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 115. | | CAMPEIRO, J. D'A.; NESHICH, I. P.; SANT'ANNA, O. A.; LOPES, R.; IANZER, D.; ASSAKURA, M. T.; NESHICH, G.; HAYASHI, M. A. F. Identification of snake bradykinin-potentiating peptides (BPPs)-simile sequences in rat brain: potential BPP-like precursor protein? Biochemical Pharmacology, New York, v. 96, n. 3, p. 202-215, Aug. 2015.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 116. | | JARDINE, J. G.; MAZONI, I.; MANCINI, A. L.; BORRO, L. C.; ALVARENGA, D.; CECÍLIO, P. L.; PELLIGRINELLI, T. V.; NESHICH, G. How did the structure function descriptors of proteins change with introduction of 'remediated' PDB files. In: RED IBEROAMERICANA DE BIOINFORMÁTICA CONGRESS, 5., 2008, Santiago. Program and abstracts... Santiago. Pontificia Universidade Católica de Chile, 2008. p. 15.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 117. | | MORAES, F. R. de; NESHICH, I. A. P.; MAZONI, I.; YANO, I. H.; PEREIRA, J. G. C.; SALIM, J. A.; JARDINE, J. G.; NESHICH, G. Improving predictions of protein-protein interfaces by combining amino acid-specific classifiers based on structural and physicochemical descriptors with their weighted neighbor averages. Plos One, San Francisco, v. 9, n. 1, p. 1-15, Jan. 2014.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 118. | | BRANDÃO, M. M.; ARRUDA, L. H.; MOURA, D. S.; NESHICH, G.; PEREIRA, J. G. C.; MALAGÓ, W. Jr; SILVA-FILHO, M. C. A pipeline to study structural interactions among Spodoptera frugiperda serine proteinases and plant proteinase inhibitors. In: CONGRESSO BRASILEIRO DE GENÉTICA, 56., 2010, Guarujá. Anais... Ribeirão Preto: Sociedade Brasileira de Genética, 2010. p. 320. GA 330.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 119. | | MAZONI, I.; SALIM, J. A.; YANO, I. H.; MORAES, F. R.; CARVALHO, J. G.; JARDINE, J. G.; NESHICH, I.; NESHICH, G. Prediction of a-helix using data mining decision tree technique. In: REUNIÃO ANUAL DA SOCIEDADE BRASILEIRA DE BIOQUÍMICA E BIOLOGIA MOLECULAR, 41., 2012, Foz do Iguaçu. Resumos... [S.l]: SBBq, 2012. Não paginado. Poster.| Biblioteca(s): Embrapa Agricultura Digital. |
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| 120. | | FALCÃO, P. R. K.; MAZONI, I.; YAMAGISHI, M. E. B.; BORRO, L. C.; JARDINE, J. G.; SANTOS, E. H. dos; OLIVEIRA, S. R. de M.; NESHICH, G. Protein ligand contacts analyzed in an integrated environment with the other sequence and structure related parameters. In: ANNUAL INTERNATIONAL CONFERENCE ON INTELLIGENT SYSTEMS FOR MOLECULAR BIOLOGY, 14.; ANNUAL AB3C CONFERENCE, 2., 2006, Fortaleza. Conference Program... Fortaleza: ISCB, 2006. Não paginado. Na publicação: Paula Kuser, Stanley R. M. Oliveira. ISMB, X-MEETING 2006. Poster I-49.| Biblioteca(s): Embrapa Agricultura Digital. |
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| Registros recuperados : 190 | |
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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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Circulação/Nível: |
A - 2 |
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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: |
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001 1974842
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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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