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2013 2
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Page 1
Neonatal leukaemia.
Roberts I, Fordham NJ, Rao A, Bain BJ. Roberts I, et al. Br J Haematol. 2018 Jul;182(2):170-184. doi: 10.1111/bjh.15246. Epub 2018 May 28. Br J Haematol. 2018. PMID: 29806701 Review.
The most frequently observed cytogenetic/molecular abnormality is t(4;11)(q21.3;q23.3)/KMT2A-AFF1 followed by t(1;22)(p13.3;q13.1)/RBM15-MKL1 and t(8;16)(p11.2;p13.3)/KAT6A-CREBBP. Common clinical features include prominent hepatosplenomegaly and a high incidence of skin i …
The most frequently observed cytogenetic/molecular abnormality is t(4;11)(q21.3;q23.3)/KMT2A-AFF1 followed by t(1;22)(p13.3;q13.1)/RBM15-MKL …
The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology.
Wiesel-Motiuk N, Assaraf YG. Wiesel-Motiuk N, et al. Drug Resist Updat. 2020 Dec;53:100729. doi: 10.1016/j.drup.2020.100729. Epub 2020 Oct 7. Drug Resist Updat. 2020. PMID: 33130515 Review.
The paralogous lysine acetyltransferases KAT6A and KAT6B which belong to the MYST family of acetyltransferases, were first discovered approximately 25 years ago. ...In this respect, KAT6 acetyltransferases play key roles in regulation of transcription, various developmenta …
The paralogous lysine acetyltransferases KAT6A and KAT6B which belong to the MYST family of acetyltransferases, were first discovered …
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.
PURPOSE: Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical …
PURPOSE: Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the …
Acute Myeloid Leukemia in Children: Emerging Paradigms in Genetics and New Approaches to Therapy.
Conneely SE, Stevens AM. Conneely SE, et al. Curr Oncol Rep. 2021 Jan 13;23(2):16. doi: 10.1007/s11912-020-01009-3. Curr Oncol Rep. 2021. PMID: 33439382 Free PMC article. Review.
PURPOSE OF REVIEW: Acute myeloid leukemia (AML) in children remains a challenging disease to cure with suboptimal outcomes particularly when compared to the more common lymphoid leukemias. ...RECENT FINDINGS: Recent studies have revealed an increasing number of mutations, …
PURPOSE OF REVIEW: Acute myeloid leukemia (AML) in children remains a challenging disease to cure with suboptimal outcomes particular …
Histone lysine acetyltransferase inhibitors: an emerging class of drugs for cancer therapy.
White J, Derheimer FA, Jensen-Pergakes K, O'Connell S, Sharma S, Spiegel N, Paul TA. White J, et al. Trends Pharmacol Sci. 2024 Mar;45(3):243-254. doi: 10.1016/j.tips.2024.01.010. Epub 2024 Feb 20. Trends Pharmacol Sci. 2024. PMID: 38383216 Free article. Review.
Despite early challenges, recent advances have led to the development of potent and selective enzymatic and bromodomain (BRD) KAT inhibitors. In this review we discuss the discovery and development of new KAT inhibitors and their application as oncology therapeutics. ...
Despite early challenges, recent advances have led to the development of potent and selective enzymatic and bromodomain (BRD) KAT inhibitors …
BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease.
Zu G, Liu Y, Cao J, Zhao B, Zhang H, You L. Zu G, et al. Cancers (Basel). 2022 Aug 23;14(17):4068. doi: 10.3390/cancers14174068. Cancers (Basel). 2022. PMID: 36077605 Free PMC article. Review.
It functions in the form of a tetrameric complex with a monocytic leukemia zinc finger protein (MOZ or KAT6A), MOZ-related factor (MORF or KAT6B) or HAT bound to ORC1 (HBO1 or KAT7) and two small non-catalytic proteins, the inhibitor of growth 5 (ING5) or the paralog ING4 …
It functions in the form of a tetrameric complex with a monocytic leukemia zinc finger protein (MOZ or KAT6A), MOZ-related factor (MO …
Targeting KAT6A/B as a New Therapeutic Strategy for Cancer Therapy.
Zheng T, Wang S, Liu W, Lu Y. Zheng T, et al. J Med Chem. 2025 Jan 23;68(2):1002-1020. doi: 10.1021/acs.jmedchem.4c02613. Epub 2025 Jan 6. J Med Chem. 2025. PMID: 39761381 Review.
KAT6A is an oncogene in human acute myeloid leukemia (AML), and KAT6A overexpression in AML is associated with metastases and poor prognoses. ...In this review, we discuss the structural and biological functions of KAT6A and summarize the influence of …
KAT6A is an oncogene in human acute myeloid leukemia (AML), and KAT6A overexpression in AML is associated with metastases and …
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
Bae S, Yang A, Kim J, Lee HJ, Park HK. Bae S, et al. BMC Med Genomics. 2021 Dec 20;14(1):297. doi: 10.1186/s12920-021-01148-x. BMC Med Genomics. 2021. PMID: 34930245 Free PMC article. Review.
BACKGROUND: Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems. …
BACKGROUND: Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disor …
The role of MOZ/KAT6A in hematological malignancies and advances in MOZ/KAT6A inhibitors.
Su J, Wang X, Bai Y, Sun M, Yao Y, Duan Y. Su J, et al. Pharmacol Res. 2021 Dec;174:105930. doi: 10.1016/j.phrs.2021.105930. Epub 2021 Oct 6. Pharmacol Res. 2021. PMID: 34626770 Review.
Thus, MOZ is an attractive target, and targeting MOZ to design small-molecule drugs can help to treat hematological malignancies. This review summarizes recent progress in biology and medicinal chemistry for the histone acetyltransferase MOZ. ...
Thus, MOZ is an attractive target, and targeting MOZ to design small-molecule drugs can help to treat hematological malignancies. This re …
Epilepsy in KAT6A syndrome: Description of two individuals and revision of the literature.
Troisi S, Maitz S, Severino M, Spano A, Cappuccio G, Brunetti-Pierri N, Torella A, Nigro V, Tudp, Bilo L, Coppola A. Troisi S, et al. Eur J Med Genet. 2022 Jan;65(1):104380. doi: 10.1016/j.ejmg.2021.104380. Epub 2021 Nov 5. Eur J Med Genet. 2022. PMID: 34748993 Review.
Pathogenic variants in KAT6A, encoding a histone acetyltransferase, have been identified as a cause of a developmental disorder with a definite clinical spectrum including intellectual disability, speech delay, dysmorphic facial features, microcephaly, cardiac and gastroin …
Pathogenic variants in KAT6A, encoding a histone acetyltransferase, have been identified as a cause of a developmental disorder with …
30 results