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Sökning: WFRF:(Catheline Stéfan)

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1.
  • Anderson, Beverley H., et al. (författare)
  • Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
  • 2012
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
  • Tidskriftsartikel (refereegranskat)abstract
    • Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
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2.
  • Carlson, Johan, et al. (författare)
  • Echo-cancellation in a single-transducer ultrasonic imaging system
  • 2002
  • Ingår i: NORSIG 2002. - Trondheim : The Institute of Electrical and Electronics Engineers. - 8299315840
  • Konferensbidrag (refereegranskat)abstract
    • During the last ten years, time-reversal of acoustic fields have been shown to be a very useful technique in ultrasonic imaging and testing. With the use of transducer arrays, it is possible to steer the sound beam to an arbitrary position within the medium, even if the medium is inhomogeneous or contains scatterers. The major drawback with traditional beamforming and time-reversal techniques is that they require the use of transducer arrays. Recently a new technique was presented that, with the use of a waveguide, makes it possible to focus sound arbitrarily, with only one transducer elements. A problem with the setup is that the signal-to-noise ratio (SNR) is degraded because of interfering echoes from the waveguide. In this paper, we present an echo-cancellation scheme that results in an SNR gain of approximately 33 dB. This enables the new technique to be used in pulse-echo mode, where this was not previously possible.
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