Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Cell"
DOI: 10.1016/j.cell.2019.08.002
Abstract: The developmental disorder Floating-Harbor syndrome (FHS) is caused by heterozygous truncating mutations in SRCAP, a gene encoding a chromatin remodeler mediating incorporation of histone variant H2A.Z. Here, we demonstrate that FHS-associated mutations result in loss… read more here.
Keywords: h2a; h2a subtypes; amino acid; human syndrome ... See more keywords
Molecular basis of a new ovine model for human 3M syndrome-2
Sign Up to like & getrecommendations! Published in 2020 at "BMC Genetics"
DOI: 10.1186/s12863-020-00913-8
Abstract: Background Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS, OMIA 001595–9940 ) is a previously reported recessively inherited disorder in Australian Poll Merino/Merino sheep. Affected lambs are stillborn with various congenital defects as reflected in the… read more here.
Keywords: molecular basis; disease; ovine model; model human ... See more keywords