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Sökning: WFRF:(Hurd Ron)

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1.
  • Chang, Bo, et al. (författare)
  • A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
  • 2009
  • Ingår i: Proceedings of the National Academy of Sciences. - : Proceedings of the National Academy of Sciences. - 1091-6490 .- 0027-8424. ; 106:46, s. 19581-19586
  • Tidskriftsartikel (refereegranskat)abstract
    • Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.
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2.
  • Waller, William H., et al. (författare)
  • FM14 Session 2: Communicating Astronomy in our Changing World
  • 2018
  • Ingår i: Proceedings of the International Astronomical Union. - : Cambridge University Press. - 1743-9213 .- 1743-9221. ; 14:A30, s. 528-530
  • Tidskriftsartikel (refereegranskat)abstract
    • As the IAU heads towards its second century, many changes have simultaneously transformed Astronomy and the human condition world-wide. Amid the amazing recent discoveries of exoplanets, primeval galaxies, and gravitational radiation, the human condition on Earth has become blazingly interconnected, yet beset with ever-increasing problems of over-population, pollution, and never-ending wars. Fossil-fueled global climate change has begun to yield perilous consequences. And the displacement of people from war-torn nations has reached levels not seen since World War II. © International Astronomical Union 2020.
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