Articles with "tsc2 mutant" as a keyword



Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome

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Published in 2025 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddae199

Abstract: Abstract Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most… read more here.

Keywords: early neurodevelopment; mutant cells; tsc2 mutant; human tsc2 ... See more keywords

Tsc2 shapes olfactory bulb granule cell molecular and morphological characteristics

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Published in 2022 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2022.970357

Abstract: Tuberous Sclerosis Complex (TSC) is a neurodevelopmental disorder caused by mutations that inactivate TSC1 or TSC2. Hamartin and tuberin are encoded by TSC1 and TSC2 which form a GTPase activating protein heteromer that inhibits the… read more here.

Keywords: tsc2 mutant; granule; loss tsc2; morphological characteristics ... See more keywords