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Showing 1 to 2 of 2 for “"GAP-related domain"”.

  1. Molecular genetic investigation of the variability of the GTPase activating protein- (GAP-) related domain of the tuberous sclerosis-2 (TSC2) gene in TSC patients and healthy subjects

    … shows homology to GTPase activating proteins (GAPs) and hamartin and tuberin may interact with one another to control the cell cycle, suggesting a tumor suppressor function for these proteins. <br>Efforts to screen patient populations for mutations in both genes in this study and others have …

    freiburg-diss Repository record for Molecular genetic investigation of the variability of the GTPase activating protein- (GAP-) related domain of the tuberous sclerosis-2 (TSC2) gene in TSC patients and healthy subjects (opens in a new tab)

  2. The role and function of the Ras-related protein TC21 in Neurofibromatosis type 1

    … in NF1 disease, is a GTPase activating protein (GAP) for Ras proteins, inactivating the Ras proteins H-Ras, N-Ras, K-Ras, M-Ras, R-Ras, and TC21. Missense mutations in the GAP related domain of neurofibromin cause NF1 disease, indicating that increased Ras activity is likely critical for disease …

    ohiolink Repository record for The role and function of the Ras-related protein TC21 in Neurofibromatosis type 1 (opens in a new tab)