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Sökning: WFRF:(Jägle M.)

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1.
  • Saleemi, Mohsin, et al. (författare)
  • Fabrication of nanostructured bulk cobalt antimonide (CoSb3) based skutterudites via bottom-up synthesis
  • 2013
  • Ingår i: Thermoelectric Materials Research and Device Development for Power Conversion and Refrigeration. - : Materials Research Society. - 9781605114675 ; , s. 121-126
  • Konferensbidrag (refereegranskat)abstract
    • Skutterudites are known to be efficient thermoelectric (TE) materials in the temperature range from 600 K to 900 K. Dimensionless figure of merit (ZT) for filled skutterudite TE materials have been reported as ca. 1 at 800 K. Novel nano- engineering approaches and filling of the skutterudites crystal can further improve the transport properties and ultimately the ZT. Although classified among the promising TE materials, research on their large-scale production via bottom up synthetic routes is rather limited. In this work, large quantity of cobalt antimonide (CoSb3) based skutterudites nanopowder (NP) was fabricated through a room temperature coprecipitation precursor method. Dried precipitates were process by thermo-chemical treatment steps including calcination (in air) and reduction (in hydrogen). CoSb3 NPs were then mixed with silver (Ag) nanopanicles at different weight percentages (1%, 5% and 10% by wt) to form nanocomposites. Skutterudite NP was then consolidated by Spark Plasma Sintering (SPS) technique to produce highly dense compacts while maintaining the nanostructure. Temperature dependent TE characteristics of SPS'd CoSb3 and Ag containing nanocomposite samples were evaluated for transport properties, including thermal conductivity, electrical conductivity and Seebeck coefficient over the temperature range of 300-900 K. Physicochemical, structural and microstructural evaluation results are presented in detail.
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3.
  • Solaki, Maria, et al. (författare)
  • Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
  • 2022
  • Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:7, s. 832-858
  • Tidskriftsartikel (refereegranskat)abstract
    • Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetically confirmed ACHM patients, 385 (36.3%) of these carrying “likely disease-causing” variants in CNGA3. Compiling our own genetic data with those reported in the literature and in public databases, we further extend the CNGA3 variant spectrum to a total of 316 variants, 244 of which we interpreted as “likely disease-causing” according to ACMG/AMP criteria. We report 48 novel “likely disease-causing” variants, 24 of which are missense substitutions underlining the predominant role of this mutation class in the CNGA3 variant spectrum. In addition, we provide extensive in silico analyses and summarize reported functional data of previously analyzed missense, nonsense and splicing variants to further advance the pathogenicity assessment of the identified variants.
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