https://transhumanist.ru/index.php?action=history&feed=atom&title=KAT8 2026-05-02T11:50:21Z История изменений этой страницы в вики MediaWiki 1.43.6 https://transhumanist.ru/index.php?title=KAT8&diff=5396&oldid=prev 2021-05-12T13:42:10Z

<p>Новая страница: «Histone acetyltransferase KAT8 (EC 2.3.1.48) (Lysine acetyltransferase 8) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1) (MYST-1) (hMOF) [MOF] [MYST1] [PP7073] ==Pub...»</p> <p><b>Новая страница</b></p><div>Histone acetyltransferase KAT8 (EC 2.3.1.48) (Lysine acetyltransferase 8) (MOZ, YBF2/SAS3, SAS2 and TIP60 protein 1) (MYST-1) (hMOF) [MOF] [MYST1] [PP7073]<br /> <br /> ==Publications==<br /> <br /> {{medline-entry<br /> |title=Mutations in the chromatin modifier gene [[KANSL1]] cause the 17q21.31 microdeletion syndrome.<br /> |pubmed-url=https://pubmed.ncbi.nlm.nih.gov/22544363<br /> |abstract=We show that haploinsufficiency of [[KANSL1]] is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The [[KANSL1]] protein is an evolutionarily conserved regulator of the chromatin modifier [[KAT8]], which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for [[KANSL1]] in neuronal processes.<br /> |mesh-terms=* Abnormalities, Multiple<br /> * Aged<br /> * Aging<br /> * Chromosome Deletion<br /> * Chromosomes, Human, Pair 17<br /> * Facies<br /> * Female<br /> * Haploinsufficiency<br /> * Humans<br /> * Intellectual Disability<br /> * Male<br /> * Middle Aged<br /> * Mutation<br /> * Nuclear Proteins<br /> * Smith-Magenis Syndrome<br /> * Syndrome<br /> <br /> |full-text-url=https://sci-hub.do/10.1038/ng.2262<br /> }}</div>

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