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Alexandra L Garnham

Explore the profile of Alexandra L Garnham including associated specialties, affiliations and a list of published articles. Areas
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Articles 48
Citations 878
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Recent Articles
1.
Bergamasco M, Ozturk E, Casillas-Espinosa P, Garnham A, Abeysekera W, Wimmer V, et al.
iScience . 2025 Mar; 28(3):111953. PMID: 40083716
Loss of the gene encoding the histone acetyltransferase KAT6B (MYST4/MORF/QKF) causes developmental brain abnormalities as well as behavioral and cognitive defects in mice. In humans, heterozygous variants in the gene...
2.
Bergamasco M, Yang Y, Garnham A, Sheikh B, Smyth G, Voss A, et al.
Nat Commun . 2025 Feb; 16(1):1958. PMID: 40000651
Closely related genes typically display common essential functions but also functional diversification, ensuring retention of both genes throughout evolution. The histone lysine acetyltransferases KAT6A (MOZ) and KAT6B (QKF/MORF), sharing identical...
3.
Bergamasco M, Ogier J, Garnham A, Whitehead L, Rogers K, Smyth G, et al.
Dev Biol . 2025 Jan; 520:141-154. PMID: 39832706
The MYST family histone acetyltransferase gene, KAT6B (MYST4, MORF, QKF) is mutated in two distinct human congenital disorders characterised by intellectual disability, facial dysmorphogenesis and skeletal abnormalities; the Say-Barber-Biesecker-Young-Simpson variant...
4.
Bergamasco M, Abeysekera W, Garnham A, Hu Y, Li-Wai-Suen C, Sheikh B, et al.
Life Sci Alliance . 2024 Nov; 8(2). PMID: 39537341
Heterozygous mutations in the histone lysine acetyltransferase gene () underlie neurodevelopmental disorders, but the mechanistic roles of KAT6B remain poorly understood. Here, we show that loss of KAT6B in embryonic...
5.
McRae H, Leong M, Bergamasco M, Garnham A, Hu Y, Corbett M, et al.
PLoS Genet . 2024 Oct; 20(10):e1011428. PMID: 39405291
Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability and endocrine disorder caused by pathogenic variants of plant homeodomain finger gene 6 (PHF6). An understanding of the role of PHF6 in...
6.
Keenan C, Coughlan H, Iannarella N, Tapia Del Fierro A, Keniry A, Johanson T, et al.
Genome Res . 2024 May; 34(4):556-571. PMID: 38719473
H3K9me3-dependent heterochromatin is critical for the silencing of repeat-rich pericentromeric regions and also has key roles in repressing lineage-inappropriate protein-coding genes in differentiation and development. Here, we investigate the molecular...
7.
Bergamasco M, Vanyai H, Garnham A, Geoghegan N, Vogel A, Eccles S, et al.
J Clin Invest . 2024 Apr; 134(7). PMID: 38557491
Mutations in genes encoding chromatin modifiers are enriched among mutations causing intellectual disability. The continuing development of the brain postnatally, coupled with the inherent reversibility of chromatin modifications, may afford...
8.
Bergamasco M, Ranathunga N, Abeysekera W, Li-Wai-Suen C, Garnham A, Willis S, et al.
Stem Cell Reports . 2024 Mar; 19(4):469-485. PMID: 38518784
The histone lysine acetyltransferase KAT6B (MYST4, MORF, QKF) is the target of recurrent chromosomal translocations causing hematological malignancies with poor prognosis. Using Kat6b germline deletion and overexpression in mice, we...
9.
Mah S, Vanyai H, Li-Wai-Suen C, Garnham A, Wynn J, Bergamasco M, et al.
Development . 2024 Mar; 151(5). PMID: 38446206
Inhibitor of growth 4 and 5 (ING4, ING5) are structurally similar chromatin-binding proteins in the KAT6A, KAT6B and KAT7 histone acetyltransferase protein complexes. Heterozygous mutations in the KAT6A or KAT6B...
10.
Wang Z, Burigotto M, Ghetti S, Vaillant F, Tan T, Capaldo B, et al.
Cancer Discov . 2023 Oct; 14(2):362-379. PMID: 37877779
Significance: This study provides evidence that removal of mutant TP53, thereby deleting its reported GOF activities, does not impact the survival, proliferation, metastasis, or chemotherapy responses of cancer cells. Thus,...