Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"H4k20"”.
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Elucidating the Biological Function of PWWP-Domain Containing Protein Complexes
… processes. Methylation of histone H4 lysine 20 (H4K20me) is essential for the activation of a DNA damage checkpoint, which blocks the progression of cell cycle to allow sufficient time for DNA damage repair. In fission yeast, only the enzyme Set9 catalyzes H4K20me, and the mechanisms that …
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Impact of Neurodevelopmental Disorder-Associated Clinical Variants on the Catalytic Activity of KMT5B
… that is known for its role in catalyzing H4K20 dimethylation. This post-translational modification is involved in DNA repair and heterochromatin formation. Missense variants found in KMT5B cause a related neurodevelopmental disorder in which patients experience neurodevelopmental …
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Neuromuscular Deficits Associated With KMT5B Haploinsufficiency in Mice
Variation in KMT5B is considered a neurodevelopmental disorder risk and correlated to an autism diagnosis in patients. Patient symptoms include hallmark autism phenotypes along with additional symptoms such as seizures and motor deficits. These motor deficits are characterized as hypotonia and …