Showing 5,341 - 5,360 results of 14,077 for search '"genetics"', query time: 0.10s Refine Results
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    Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease by Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia

    Published 2025-01-01
    “…To test if restoring mTOR signaling could improve the disease phenotype, we genetically reduced expression of the mTOR inhibitor Tsc2 in these mice. …”
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    Novel NOTCH3 mutation c.1564 T > A (p.Cys522Ser) presenting with early-onset Parkinsonism and white matter lesions by Nicola Rifino, Silvia Baratta, Esteban Zacarias, Isabella Canavero, Benedetta Storti, Mario Stanziano, Emanuela Maderna, Gianluca Marucci, Franco Taroni, Anna Bersano

    Published 2025-01-01
    “…Early identification of genetic mutations can facilitate appropriate management and counseling for affected individuals and their families. …”
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    Tutorial Review for Understanding of Cholangiopathy by Yasuni Nakanuma

    Published 2012-01-01
    “…A number of diseases affect mainly the intrahepatic and extrahepatic biliary tree, and, in this special issue, these cholangiopathies are reviewed in detail with respect to genetics, pathogenesis, and pathology. In this paper, the anatomy and physiology of the biliary tree, basic injuries to biliary epithelial cells from stress and bile duct damage, and representative cholangiopathies are briefly reviewed.…”
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    APPLICATION OF MODERN BREEDING METHODS TO DAIRY CATTLE by S. V. Titova

    Published 2014-12-01
    “…Biological and breeding parameters of populations of black-and-white cattle have been studied by using a genetic-mathematical model to identify the optimal ratio of variable and fixed factors in the optimization of breeding programs. …”
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    Fabry disease – what a gastroenterologist should know by Alicja Rydzewska-Rosołowska, Tomasz Hryszko

    Published 2023-12-01
    “…The following review provides concise information on epidemiology and genetics, signs, and symptoms of the disease, focusing on the gastrointestinal (GI) tract, providing a brief overview of the diagnostic process and the available treatment, both disease specific and supportive, again with a focus on alleviation of gastrointestinal symptoms.…”
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