Category: 5. Biology

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  • A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia

    A copy number variant overlapping the 3ʹUTR of PLP1 causes spastic paraplegia

  • Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010;75:718–25.

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  • Mosaic deletions detected by genome sequencing in two families

    Mosaic deletions detected by genome sequencing in two families

  • Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, et al. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024;390:1985–97.

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  • The AKAP12-PKA axis regulates lipid homeostasis during alcohol-associated liver disease

    The AKAP12-PKA axis regulates lipid homeostasis during alcohol-associated liver disease

    Cell culture and treatments

    Cryopreserved, plateable, primary human hepatocytes were purchased from ThermoScientific (Rockford, IL). Cells were passed through percoll-containing density gradient medium (Cytiva, Marlborough) and further washed and…

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