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Select item 107244961.

Clinical heterogeneity of polish patients with KAT6B–related disorder

Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert

Mol Genet Genomic Med. 2023 Dec; 11(12): e2265. Published online 2023 Sep 1. doi: 10.1002/mgg3.2265

PMCID:: PMC10724496

Abstract Article PDF–943K

Select item 104960352.

Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy

Xiaoang Sun, Xiaona Luo, Longlong Lin, Simei Wang, Chunmei Wang, Fang Yuan, Xiaoping Lan, Jingbin Yan, Yucai Chen

Mol Genet Genomic Med. 2023 Sep; 11(9): e2202. Published online 2023 Jun 8. doi: 10.1002/mgg3.2202

PMCID:: PMC10496035

Abstract Article PDF–2.1M

Select item 85800943.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham, Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda

Mol Genet Genomic Med. 2021 Oct; 9(10): e1809. Published online 2021 Sep 14. doi: 10.1002/mgg3.1809

PMCID:: PMC8580094

Abstract Article PDF–2.2M

Select item 84116214.

Low Expression of KAT6B May Affect Prognosis in Hepatocellular Carcinoma

Junjie Jiang, Hui-Ju Wang, Xiao-Zhou Mou, Huanqing Zhang, YiZhen Chen, Zhi-Ming Hu

Technol Cancer Res Treat. 2021; 20: 15330338211033063. Published online 2021 Aug 31. doi: 10.1177/15330338211033063

PMCID:: PMC8411621

Abstract Article PDF–659K

Select item 77373995.

Further Delineation of the Clinical Spectrum of KAT6B Disorders and Allelic Series of Pathogenic Variants

Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga-Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloes, Amelle G. Shillington, Kosuke Izumi, Alyssa L. Ritter, Beth Keena, Elaine Zackai, Dong Li, Elizabeth Bhoj, Jennifer M. Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid V. Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance F. Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan Patel, Ana Bracho, Francisco Cammarata-Scalisi, Alper Gezdirici, Alberto Fernandez-Jaen, Natalie Hauser, Yuri A. Zarate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan H. Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau

Genet Med. Author manuscript; available in PMC 2020 Dec 15.

Published in final edited form as: Genet Med. 2020 Aug; 22(8): 1338–1347. Published online 2020 May 19. doi: 10.1038/s41436-020-0811-8

PMCID:: PMC7737399

Abstract Article PDF–1.2M

Select item 72457536.

High methylation of lysine acetyltransferase 6B is associated with the Cobb angle in patients with congenital scoliosis

Yuantao Wu, Hongqi Zhang, Mingxing Tang, Chaofeng Guo, Ang Deng, Jiong Li, Yunjia Wang, Lige Xiao, Guanteng Yang

J Transl Med. 2020; 18: 210. Published online 2020 May 24. doi: 10.1186/s12967-020-02367-z

PMCID:: PMC7245753

Abstract Article PDF–4.2M

Select item 67978047.

Histone H3K23-specific acetylation by MORF is coupled to H3K14 acylation

Brianna J. Klein, Suk Min Jang, Catherine Lachance, Wenyi Mi, Jie Lyu, Shun Sakuraba, Krzysztof Krajewski, Wesley W. Wang, Simone Sidoli, Jiuyang Liu, Yi Zhang, Xiaolu Wang, Becka M. Warfield, Andrew J. Kueh, Anne K. Voss, Tim Thomas, Benjamin A. Garcia, Wenshe R. Liu, Brian D. Strahl, Hidetoshi Kono, Wei Li, Xiaobing Shi, Jacques Côté, Tatiana G. Kutateladze

Nat Commun. 2019; 10: 4724. Published online 2019 Oct 17. doi: 10.1038/s41467-019-12551-5

PMCID:: PMC6797804

Abstract Article PDF–2.7M

Select item 54154078.

Recognition of histone H3K14 acylation by MORF

Brianna J. Klein, Johayra Simithy, Xiaolu Wang, JaeWoo Ahn, Forest H. Andrews, Yi Zhang, Jacques Côté, Xiaobing Shi, Benjamin A. Garcia, Tatiana G. Kutateladze

Structure. Author manuscript; available in PMC 2018 Apr 4.

Published in final edited form as: Structure. 2017 Apr 4; 25(4): 650–654.e2. Published online 2017 Mar 9. doi: 10.1016/j.str.2017.02.003

PMCID:: PMC5415407

Abstract Article PDF–966K

Select item 50715759.

Decreased MORF leads to prolonged endoplasmic reticulum stress in periodontitis-associated chronic inflammation

Peng Xue, Bei Li, Ying An, Jin Sun, Xiaoning He, Rui Hou, Guangying Dong, Dongdong Fei, Fang Jin, Qintao Wang, Yan Jin

Cell Death Differ. 2016 Nov 1; 23(11): 1862–1872. Published online 2016 Jul 22. doi: 10.1038/cdd.2016.74

PMCID:: PMC5071575

Abstract Article PDF–3.5M

Select item 441411510.

An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B

Hung-Chun Yu, Elizabeth A. Geiger, Livija Medne, Elaine H. Zackai, Tamim H. Shaikh

Am J Med Genet A. Author manuscript; available in PMC 2015 Apr 29.

Published in final edited form as: Am J Med Genet A. 2014 Apr; 0(4): 950–957. Published online 2014 Jan 23. doi: 10.1002/ajmg.a.36379

PMCID:: PMC4414115

Abstract Article PDF–428K

Select item 435189111.

Further delineation of the KAT6B molecular and phenotypic spectrum

Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Bronwyn Kerr, Ruth Day, Siddharth Banka, Mohnish Suri, Siren Berland, Michael Gabbett, Alan Ma, Stan Lyonnet, Valerie Cormier-Daire, Rüstem Yilmaz, Guntram Borck, Dagmar Wieczorek, Britt-Marie Anderlid, Sarah Smithson, Julie Vogt, Heather Moore-Barton, Pelin Ozlem Simsek-Kiper, Isabelle Maystadt, Anne Destrée, Jessica Bucher, Brad Angle, Shehla Mohammed, Emma Wakeling, Sue Price, Amihood Singer, Yves Sznajer, Annick Toutain, Damien Haye, Ruth Newbury-Ecob, Melanie Fradin, Julie McGaughran, Beyhan Tuysuz, Mark Tein, Katelijne Bouman, Tabib Dabir, Jenneke Van den Ende, Ho Ming Luk, Daniela T Pilz, Jacqueline Eason, Sally Davies, Willie Reardon, Livia Garavelli, Orsetta Zuffardi, Koen Devriendt, Ruth Armstrong, Diana Johnson, Martine Doco-Fenzy, Emilia Bijlsma, Sheila Unger, Hermine E Veenstra-Knol, Jürgen Kohlhase, Ivan FM Lo, DDD study, Janine Smith, Jill Clayton-Smith

Eur J Hum Genet. 2015 Sep; 23(9): 1165–1170. Published online 2014 Nov 26. doi: 10.1038/ejhg.2014.248

PMCID:: PMC4351891

Abstract Article PDF–706K

Select item 369635212.

Philippe M Campeau, James T Lu, Brian C Dawson, Ivo F A C Fokkema, Stephen P Robertson, Richard A Gibbs, Brendan H Lee

Hum Mutat. Author manuscript; available in PMC 2013 Jun 29.

Published in final edited form as: Hum Mutat. 2012 Nov; 33(11): 1520–1525. Published online 2012 Jul 12. doi: 10.1002/humu.22141

PMCID:: PMC3696352

Abstract Article PDF–1.9M

Select item 327665913.

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, Brendan H. Lee

Am J Hum Genet. 2012 Feb 10; 90(2): 282–289. doi: 10.1016/j.ajhg.2011.11.023

PMCID:: PMC3276659

Abstract Article PDF–1.1M

Select item 938849414.

Recurrent KAT6B/A::KANSL1 Fusions Characterize a Potentially Aggressive Uterine Sarcoma Morphologically Overlapping with Low-grade Endometrial Stromal Sarcoma

Abbas Agaimy, Blaise A. Clarke, David L. Kolin, Cheng-Han Lee, Jen-Chieh Lee, W Glenn McCluggage, Patrik Pöschke, Robert Stoehr, David Swanson, Gulisa Turashvili, Matthias W. Beckmann, Arndt Hartmann, Cristina R. Antonescu, Brendan C. Dickson

Am J Surg Pathol. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Surg Pathol. 2022 Sep 1; 46(9): 1298–1308. Published online 2022 May 17. doi: 10.1097/PAS.0000000000001915

PMCID:: PMC9388494

Abstract Article PDF–6.1M

Select item 741291815.

CircKIAA0907 Retards Cell Growth, Cell Cycle, and Autophagy of Gastric Cancer In Vitro and Inhibits Tumorigenesis In Vivo via the miR-452-5p/KAT6B Axis

Lingyu Zhu, Chunfei Wang, Shengquan Lin, Lei Zong

Med Sci Monit. 2020; 26: e924160-1–e924160-14. Prepublished online 2020 Jun 3. Published online 2020 Jul 28. doi: 10.12659/MSM.924160

PMCID:: PMC7412918

Abstract Article PDF–1.2M

Select item 493606116.

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 390292517.

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 384326618.

KAT5 and KAT6B are in positive regulation on cell proliferation of prostate cancer through PI3K-AKT signaling

Wei He, Min-Guang Zhang, Xiao-Jing Wang, Shan Zhong, Yuan Shao, Yu Zhu, Zhou-Jun Shen

Int J Clin Exp Pathol. 2013; 6(12): 2864–2871. Published online 2013 Nov 15.

PMCID:: PMC3843266

Abstract Article PDF–689K

Select item 327666519.

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan E. Holder, Gabriele Gillessen-Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen-Snuijf, Sarina G. Kant, Lies H. Hoefsloot, Willie Reardon, Han G. Brunner, Ernie M.H.F. Bongers, Richard C. Trembath

Am J Hum Genet. 2012 Feb 10; 90(2): 290–294. doi: 10.1016/j.ajhg.2011.11.024

PMCID:: PMC3276665

Abstract Article PDF–256K

Select item 219077120.

Investigation of MYST4 histone acetyltransferase and its involvement in mammalian gametogenesis

Serge McGraw, Guillaume Morin, Christian Vigneault, Pierre Leclerc, Marc-André Sirard

BMC Dev Biol. 2007; 7: 123. Published online 2007 Nov 2. doi: 10.1186/1471-213X-7-123

PMCID:: PMC2190771

Abstract Article PDF–1.9M

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