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	Provedor de dados Genet. Mol. Biol. (2) Autor Kirsten,Holger (2) Ahnert,Peter (1) Boltze,Johannes (1) Burkhardt,Jana (1) Czepezauer,Ivonne (1) Hesse,Volker (1) Müller,Bent (1) Quente,Elfi (1) Wilcke,Arndt (1) Wolfram,Grit (1) Mais... Palavra-chave Candidate gene (1) Differential allelic expression (1) Dyslexia (1) EQTL (1) Gene expression (1) Gene polymorphism (1) QTL (1) SNP (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2018 (1) 2012 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1 Genet. Mol. Biol. Müller,Bent; Boltze,Johannes; Czepezauer,Ivonne; Hesse,Volker; Wilcke,Arndt; Kirsten,Holger. Abstract An increasing number of genetic variants involved in dyslexia development were discovered during the last years, yet little is known about the molecular functional mechanisms of these SNPs. In this study we investigated whether dyslexia candidate SNPs have a direct, disease-specific effect on local expression levels of the assumed target gene by using a differential allelic expression assay. In total, 12 SNPs previously associated with dyslexia and related phenotypes were suitable for analysis. Transcripts corresponding to four SNPs were sufficiently expressed in 28 cell lines originating from controls and a family affected by dyslexia. We observed a significant effect of rs600753 on expression levels of DYX1C1 in forward and reverse sequencing... Tipo: Info:eu-repo/semantics/article Palavras-chave: Dyslexia; SNP; EQTL; Differential allelic expression. Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000100041 Differential allelic expression of IL13 and CSF2 genes associated with asthma Genet. Mol. Biol. Burkhardt,Jana; Kirsten,Holger; Wolfram,Grit; Quente,Elfi; Ahnert,Peter. An important area of genetic research is the identification of functional mechanisms in polymorphisms associated with diseases. A highly relevant functional mechanism is the influence of polymorphisms on gene expression levels (differential allelic expression, DAE). The coding single nucleotide polymorphisms (SNPs) CSF2rs25882 and IL13rs20541 have been associated with asthma. In this work, we investigated whether the mRNA expression levels of CSF2 or IL13 were correlated with these SNPs. Samples were analyzed by mass spectrometry-based quantification of gene expression. Both SNPs influenced gene expression levels (CSF2rs25882: p overall = 0.008 and pDAE samples = 0.00006; IL13rs20541: p overall = 0.059 and pDAE samples = 0.036). For CSF2, the expression... Tipo: Info:eu-repo/semantics/article Palavras-chave: Candidate gene; Gene expression; Gene polymorphism; QTL. Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400004 Registros recuperados: 2 Primeira ... 1 ... Última

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