PMC Links for Gene (Select 7994) - PMC

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Select item 77026621.

Acute Monoblastic Leukemia with Erythrophagocytosis and Absence of KAT6A Rearrangement

Carlos De Miguel Sánchez, Diego Robles de Castro, Ana Vega González de Viñaspre, Ariane Unamunzaga Zilaurren, Arantza Mendizábal Abad, José María Guinea de Castro

Turk J Haematol. 2020 Dec; 37(4): 282–283. Published online 2020 Nov 19. doi: 10.4274/tjh.galenos.2020.2020.0237

PMCID:: PMC7702662

Article PDF–243K

Select item 74672772.

KAT6A amplifications are associated with shorter progression-free survival and overall survival in patients with endometrial serous carcinoma

Ozlen Saglam, Zhenya Tang, Guilin Tang, L. Jeffrey Medeiros, Gokce A. Toruner

PLoS One. 2020; 15(9): e0238477. Published online 2020 Sep 2. doi: 10.1371/journal.pone.0238477

PMCID:: PMC7467277

Abstract Article PDF–2.8M

Select item 70112743.

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells

Orphanet J Rare Dis. 2020; 15: 44. Published online 2020 Feb 10. doi: 10.1186/s13023-020-1317-9

PMCID:: PMC7011274

Abstract Article PDF–1.9M

Select item 66343104.

KAT6A Syndrome: Genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tiong Yang Tan, Patrick Yap, Zornitza Stark, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Ellen Macnamara, Jennifer L. Murphy, Elizabeth McCormick, Hakon Hakonarson, Marni J. Falk, Dong Li, Patrick Blackburn, Eric Klee, Dusica Babovic-Vuksanovic, Susan Schelley, Louanne Hudgins, Sarina Kant, Bertrand Isidor, Benjamin Cogne, Kimberley Bradbury, Mark Williams, Chirag Patel, Helen Heussler, Celia Duff-Farrier, Phillis Lakeman, Ingrid Scurr, Usha Kini, Mariet Elting, Margot Reijnders, Janneke Schuurs-Hoeijmakers, Mohamed Wafik, Anne Blomhoff, Claudia A.L. Ruivenkamp, Esther Nibbeling, Alexander J.M. Dingemans, Emilie D. Douine, Stanley F. Nelson, The DDD Study, Valerie A. Arboleda, Ruth Newbury-Ecob

Genet Med. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Genet Med. 2019 Apr; 21(4): 850–860. Published online 2018 Sep 24. doi: 10.1038/s41436-018-0259-2

Correction in:: Genet Med. 2020 Aug 19

PMCID:: PMC6634310

Abstract Article PDF–801K

Select item 43756195.

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani, Neda Zadeh, Mary Willis, Colleen Forsyth Macmurdo, Melanie A. Manning, Andrea Kwan, Louanne Hudgins, Florian Barthelemy, M. Carrie Miceli, Fabiola Quintero-Rivera, Sibel Kantarci, Samuel P. Strom, Joshua L. Deignan, UCLA Clinical Genomics Center, Wayne W. Grody, Eric Vilain, Stanley F. Nelson

Am J Hum Genet. 2015 Mar 5; 96(3): 498–506. doi: 10.1016/j.ajhg.2015.01.017

PMCID:: PMC4375619

Abstract Article PDF–790K

Select item 43754196.

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie Nesbitt, Holly A. Dubbs, Elaine H. Zackai, Michael J. Parker, Francisca Millan, Kenneth Rosenbaum, Golder N. Wilson, Ann Nordgren

Am J Hum Genet. 2015 Mar 5; 96(3): 507–513. doi: 10.1016/j.ajhg.2015.01.016

PMCID:: PMC4375419

Abstract Article PDF–912K

Select item 36471827.

The MYSTerious MOZ, a histone acetyltransferase with a key role in haematopoiesis

Flor M Perez-Campo, Guilherme Costa, Michael Lie-a-Ling, Valerie Kouskoff, Georges Lacaud

Immunology. 2013 Jun; 139(2): 161–165. Published online 2013 Apr 23. doi: 10.1111/imm.12072

PMCID:: PMC3647182

Abstract Article PDF–273K

Select item 106763148.

KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster

Meghna Singh, Sarah J. Spendlove, Angela Wei, Leroy M. Bondhus, Aileen A. Nava, Francisca N. de L. Vitorino, Seth Amano, Jacob Lee, Gesenia Echeverria, Dianne Gomez, Benjamin A. Garcia, Valerie A. Arboleda

Hum Genet. 2023; 142(12): 1705–1720. Published online 2023 Oct 20. doi: 10.1007/s00439-023-02608-3

PMCID:: PMC10676314

Abstract Article PDF–4.2M

Select item 99088899.

MORF and MOZ acetyltransferases target unmethylated CpG islands through the winged helix domain

Dustin C. Becht, Brianna J. Klein, Akinori Kanai, Suk Min Jang, Khan L. Cox, Bing-Rui Zhou, Sabrina K. Phanor, Yi Zhang, Ruo-Wen Chen, Christopher C. Ebmeier, Catherine Lachance, Maxime Galloy, Amelie Fradet-Turcotte, Martha L. Bulyk, Yawen Bai, Michael G. Poirier, Jacques Côté, Akihiko Yokoyama, Tatiana G. Kutateladze

Nat Commun. 2023; 14: 697. Published online 2023 Feb 8. doi: 10.1038/s41467-023-36368-5

PMCID:: PMC9908889

Abstract Article PDF–12M

Select item 891603710.

KAT6A and ENL form an epigenetic transcriptional control module to drive critical leukemogenic gene expression programs

Fangxue Yan, Jinyang Li, Jelena Milosevic, Ricardo Petroni, Suying Liu, Zhennan Shi, Salina Yuan, Janice M. Reynaga, Yuwei Qi, Joshua Rico, Sixiang Yu, Yiman Liu, Susumu Rokudai, Neil Palmisiano, Sara E. Meyer, Pamela J Sung, Liling Wan, Fei Lan, Benjamin A. Garcia, Ben Z. Stanger, David B. Sykes, M. Andrés Blanco

Cancer Discov. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Cancer Discov. 2022 Mar 1; 12(3): 792–811. doi: 10.1158/2159-8290.CD-20-1459

PMCID:: PMC8916037

Abstract Article PDF–2.6M

Select item 543693811.

Identification of MYST3 as a novel epigenetic activator of ERα frequently amplified in breast cancer

L Yu, Y Liang, X Cao, X Wang, H Gao, S-Y Lin, R Schiff, X-S Wang, K Li

Oncogene. 2017 May 18; 36(20): 2910–2918. Published online 2016 Nov 28. doi: 10.1038/onc.2016.433

PMCID:: PMC5436938

Abstract Article PDF–2.9M

Select item 493606112.

Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human Disease

Fu Huang, Susan M. Abmayr, Jerry L. Workman

Mol Cell Biol. 2016 Jul 15; 36(14): 1900–1907. Prepublished online 2016 May 16. Published online 2016 Jun 29. doi: 10.1128/MCB.00055-16

PMCID:: PMC4936061

Abstract Article PDF–1.6M

Select item 423487413.

KAT6A, a Chromatin Modifier from the 8p11-p12 Amplicon is a Candidate Oncogene in Luminal Breast Cancer

Brittany Turner-Ivey, Stephen T. Guest, Jonathan C. Irish, Christiana S. Kappler, Elizabeth Garrett-Mayer, Robert C. Wilson, Stephen P. Ethier

Neoplasia. 2014 Aug; 16(8): 644–655. Published online 2014 Sep 10. doi: 10.1016/j.neo.2014.07.007

PMCID:: PMC4234874

Abstract Article PDF–1.3M

Select item 390292514.

The double PHD finger domain of MOZ/MYST3 induces α-helical structure of the histone H3 tail to facilitate acetylation and methylation sampling and modification

Ingrid Dreveny, Sian E. Deeves, Joel Fulton, Baigong Yue, Marie Messmer, Amit Bhattacharya, Hilary M. Collins, David M. Heery

Nucleic Acids Res. 2014 Jan; 42(2): 822–835. Published online 2013 Oct 21. doi: 10.1093/nar/gkt931

PMCID:: PMC3902925

Abstract Article PDF–9.6M

Select item 15673415.

Transcriptional regulation of the human MIP-1α promoter by RUNX1 and MOZ

Claire A. P. Bristow, Paul Shore

Nucleic Acids Res. 2003 Jun 1; 31(11): 2735–2744. doi: 10.1093/nar/gkg401

PMCID:: PMC156734

Abstract Article PDF–332K

Select item 648643516.

NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma

Jianming Pei, Harry Cooper, Douglas B. Flieder, Jacqueline N. Talarchek, Tahseen Al-Saleem, Robert G. Uzzo, Essel Dulaimi, Arthur S. Patchefsky, Joseph R. Testa, Shuanzeng Wei

Mod Pathol. Author manuscript; available in PMC 2019 Jul 8.

Published in final edited form as: Mod Pathol. 2019 May; 32(5): 710–716. Published online 2019 Jan 8. doi: 10.1038/s41379-018-0191-7