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Sökning: AMNE:(MEDICIN OCH HÄLSOVETENSKAP Medicinska grundvetenskaper Medicinsk genetik) > Södertörns högskola

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1.
  • Massinen, Satu, et al. (författare)
  • Increased expression of the dyslexia candidate gene DCDC2 affects length and signaling of primary cilia in neurons.
  • 2011
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 6:6
  • Tidskriftsartikel (refereegranskat)abstract
    • DCDC2 is one of the candidate susceptibility genes for dyslexia. It belongs to the superfamily of doublecortin domain containing proteins that bind to microtubules, and it has been shown to be involved in neuronal migration. We show that the Dcdc2 protein localizes to the primary cilium in primary rat hippocampal neurons and that it can be found within close proximity to the ciliary kinesin-2 subunit Kif3a. Overexpression of DCDC2 increases ciliary length and activates Shh signaling, whereas downregulation of Dcdc2 expression enhances Wnt signaling, consistent with a functional role in ciliary signaling. 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.
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2.
  • Dumanski, Jan P., et al. (författare)
  • Smoking is associated with mosaic loss of chromosome Y
  • 2015
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 347:6217, s. 81-83
  • Tidskriftsartikel (refereegranskat)abstract
    • Tobacco smoking is a risk factor for numerous disorders, including cancers affecting organs outside the respiratory tract. Epidemiological data suggest that smoking is a greater risk factor for these cancers in males compared to females. This observation, together with the fact that males have a higher incidence of and mortality from most non-sex-specific cancers, remains unexplained. Loss of chromosome Y (LOY) in blood cells is associated with increased risk of nonhematological tumors. We demonstrate here that smoking is associated with LOY in blood cells in three independent cohorts [TwinGene: odds ratio (OR) = 4.3, 95% CI = 2.8-6.7; ULSAM: OR = 2.4, 95% CI = 1.6-3.6; and PIVUS: OR = 3.5, 95% CI = 1.4-8.4] encompassing a total of 6014 men. The data also suggest that smoking has a transient and dose-dependent mutagenic effect on LOY status. The finding that smoking induces LOY thus links a preventable risk factor with the most common acquired human mutation.
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3.
  • Gunnarson, Martin, 1979- (författare)
  • Det lilla och stora screeningtestet
  • 2022
  • Ingår i: Screeningens mångsidighet. - Lund : Nordic Academic Press. - 9789188909862 - 9789188909879
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)
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4.
  • Lee, Jinhee, et al. (författare)
  • Genetic Variation and Autism : A Field Synopsis and Systematic Meta-Analysis
  • 2020
  • Ingår i: Brain Sciences. - : MDPI. - 2076-3425 .- 2076-3425. ; 10:10
  • Tidskriftsartikel (refereegranskat)abstract
    • This study aimed to verify noteworthy findings between genetic risk factors and autism spectrum disorder (ASD) by employing the false positive report probability (FPRP) and the Bayesian false-discovery probability (BFDP). PubMed and the Genome-Wide Association Studies (GWAS) catalog were searched from inception to 1 August, 2019. We included meta-analyses on genetic factors of ASD of any study design. Overall, twenty-seven meta-analyses articles from literature searches, and four manually added articles from the GWAS catalog were re-analyzed. This showed that five of 31 comparisons for meta-analyses of observational studies, 40 out of 203 comparisons for the GWAS meta-analyses, and 18 out of 20 comparisons for the GWAS catalog, respectively, had noteworthy estimations under both Bayesian approaches. In this study, we found noteworthy genetic comparisons highly related to an increased risk of ASD. Multiple genetic comparisons were shown to be associated with ASD risk; however, genuine associations should be carefully verified and understood.
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