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	Provedor de dados Genet. Mol. Biol. (2) Autor Deissler,Helmut (2) Herman,Sandra (2) Deissler,Heidrun L. (1) Kreienberg,Rolf (1) Sauer,Georg (1) Scholz,Claus-Jürgen (1) Varga,Dominic (1) Wolfahrt,Sonja (1) Mais... Palavra-chave CD9 (1) DNA sequencing (1) Hereditary breast cancer (1) Membrane topology (1) Model calculations (1) Mutation analysis (1) PCR (1) Splice variant (1) Tetraspanin (1) Transcript (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2013 (1) 2012 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Medium-sized deletion in the BRCA1 gene: limitations of Sanger sequencing and MLPA analyses Genet. Mol. Biol. Herman,Sandra; Varga,Dominic; Deissler,Heidrun L.; Kreienberg,Rolf; Deissler,Helmut. We describe a family with a history of breast and ovarian cancer in which MLPA analysis of the BRCA1 gene pointed to a deletion including a part of exon 11. Further characterization confirmed a loss of 374 bp in a region completely covered by conventional sequencing which had not revealed the deletion. Because this alteration was only detected serendipitously with an MLPA probe, we calculated the probabilities of detecting medium-sized deletions in large exons by methods including initial PCR amplification. This showed that a considerable fraction of medium-sized deletions are undetectable by currently used standard methods of mutation analyses. We conclude that long, widely overlapping amplicons should be used to minimize the risk of missing medium-sized... Tipo: Info:eu-repo/semantics/article Palavras-chave: Mutation analysis; DNA sequencing; PCR; Hereditary breast cancer; Model calculations. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100007 Identification of alternative transcripts of rat CD9 expressed by tumorigenic neural cell lines and in normal tissues Genet. Mol. Biol. Wolfahrt,Sonja; Herman,Sandra; Scholz,Claus-Jürgen; Sauer,Georg; Deissler,Helmut. CD9 is the best-studied member of the tetraspanin family of transmembrane proteins. It is involved in various fundamental cellular processes and its altered expression is a characteristic of malignant cells of different origins. Despite numerous investigations confirming its fundamental role, the heterogeneity of CD9 or other tetraspanin proteins was considered only to be caused by posttranslational modification, rather than alternative splicing. Here we describe the first identification of CD9 transcript variants expressed by cell lines derived from fetal rat brain cells. Variant mRNA-B lacks a potential translation initiation codon in the alternative exon 1 and seems to be characteristic of the tumorigenic BT cell lines. In contrast, variant mRNA-C can... Tipo: Info:eu-repo/semantics/article Palavras-chave: CD9; Tetraspanin; Transcript; Splice variant; Membrane topology. Ano: 2013 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000200019 Registros recuperados: 2 Primeira ... 1 ... Última

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