Browsing HMS Scholarly Articles by Keyword "Autosomal Recessive"

Now showing items 1-2 of 2

    • Characterization of Defects in Ion Transport and Tissue Development in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)-Knockout Rats 

      Tuggle, Katherine L.; Birket, Susan E.; Cui, Xiaoxia; Hong, Jeong; Warren, Joe; Reid, Lara; Chambers, Andre; Ji, Diana; Gamber, Kevin; Chu, Kengyeh K.; Tearney, Guillermo; Tang, Li Ping; Fortenberry, James A.; Du, Ming; Cadillac, Joan M.; Bedwell, David M.; Rowe, Steven M.; Sorscher, Eric J.; Fanucchi, Michelle V. (Public Library of Science, 2014)
      Animal models for cystic fibrosis (CF) have contributed significantly to our understanding of disease pathogenesis. Here we describe development and characterization of the first cystic fibrosis rat, in which the cystic ...

    • A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis 

      Tao, Jianning; Koster, Maranke I.; Harrison, Wilbur; Moran, Jennifer L.; Beier, David R.; Roop, Dennis R.; Overbeek, Paul A. (Public Library of Science, 2012)
      Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe ...