Genomes and Genes
Affiliation: Karolinska Institutet
- Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm developmentMyriam Peyrard-Janvid
Department of Biosciences and Nutrition, Karolinska Institutet, and Center for Biotechnology, 14183 Huddinge, Sweden Electronic address
Am J Hum Genet 94:23-32. 2014..They supported the hypotheses that both genes are essential for the presence of a functional oral periderm and that failure of this process contributes to VWS. ..
- The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and languageHeidi Anthoni
Department of Medical Genetics, Biomedicum, University of Helsinki, 00014, Helsinki, Finland
Behav Genet 42:509-27. 2012..An aromatase inhibitor reduced dendritic growth in cultured rat neurons. From this broad set of evidence, we propose CYP19A1 as a candidate gene for human cognitive functions implicated in reading, speech and language...
- SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populationsHans Matsson
Department of Biosciences and Nutrition, Karolinska Institutet, Novum, Hälsovägen 7, S 141 83 Huddinge, Sweden
Behav Genet 41:134-40. 2011..We restrict a candidate region to 0.3 Mb on chromosome 7q33. This region harbours the gene diacylglycerol kinase, iota (DGKI) which contains overlapping haplotypes associated with dyslexia in both Finnish and German sample sets...
- Family-based association study of DYX1C1 variants in autismTero Ylisaukko-Oja
Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
Eur J Hum Genet 13:127-30. 2005..Thus it seems unlikely that DYX1C1 gene would be involved in the genetic etiology of autism in Finnish patients...
- Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neuronsSatu Massinen
Research Program s Unit, Molecular Medicine and Department of Medical Genetics, University of Helsinki, Helsinki, Finland
PLoS ONE 6:e20580. 2011..Moreover, DCDC2 overexpression in C. elegans causes an abnormal neuronal phenotype that can only be seen in ciliated neurons. Together our results suggest a potential role for DCDC2 in the structure and function of primary cilia...
- A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexiaHeidi Anthoni
Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden
Hum Mol Genet 16:667-77. 2007..Analysis of C2ORF3 orthologues in four non-human primates suggested different evolutionary rates for primates when compared with the out-group. In conclusion, our data support MRPL19 and C2ORF3 as candidate susceptibility genes for DYX3...