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Sökning: WFRF:(Pansarasa Orietta)

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1.
  • Bordoni, Matteo, et al. (författare)
  • 3D Printed Conductive Nanocellulose Scaffolds for the Differentiation of Human Neuroblastoma Cells
  • 2020
  • Ingår i: Cells. - : MDPI AG. - 2073-4409. ; 9:3
  • Tidskriftsartikel (refereegranskat)abstract
    • We prepared cellulose nanofibrils-based (CNF), alginate-based and single-walled carbon nanotubes (SWCNT)-based inks for freeform reversible embedding hydrogel (FRESH) 3D bioprinting of conductive scaffolds. The 3D printability of conductive inks was evaluated in terms of their rheological properties. The differentiation of human neuroblastoma cells (SH-SY5Y cell line) was visualized by the confocal microscopy and the scanning electron microscopy techniques. The expression of TUBB3 and Nestin genes was monitored by the RT-qPCR technique. We have demonstrated that the conductive guidelines promote the cell differentiation, regardless of using differentiation factors. It was also shown that the electrical conductivity of the 3D printed scaffolds could be tuned by calcium-induced crosslinking of alginate, and this plays a significant role on neural cell differentiation. Our work provides a protocol for the generation of a realistic in vitro 3D neural model and allows for a better understanding of the pathological mechanisms of neurodegenerative diseases.
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2.
  • van Rheenen, Wouter, et al. (författare)
  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
  • 2016
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:9, s. 1043-1048
  • Tidskriftsartikel (refereegranskat)abstract
    • To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
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