Global ETD Search
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Showing 1 to 2 of 2 for “"KMT5B"”.
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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 …
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Impact of Neurodevelopmental Disorder-Associated Clinical Variants on the Catalytic Activity of KMT5B
KMT5B is a lysine methyltransferase 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 …