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Items: 1 to 20 of 58

1.
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J. M. Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibañez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis A. Pérez-Jurado, Gemma Aznar Lain, Juan Dario Ortigoza-Escobar, Bert B. A. de Vries, David A. Koolen, Rosanna Weksberg
Eur J Hum Genet. 2024 Mar; 32(3): 324–332. Published online 2024 Jan 29. doi: 10.1038/s41431-024-01538-6
Correction in:
Eur J Hum Genet. 2024 Mar; 32(3): 366.
PMCID:
PMC10923882
AbstractArticlePDF–2.2M
2.
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood
Kenneth A. Myers, Amelia McGlade, Bernd A. Neubauer, Dennis Lal, Samuel F. Berkovic, Ingrid E. Scheffer, Michael S. Hildebrand
PLoS One. 2018; 13(1): e0191546. Published online 2018 Jan 19. doi: 10.1371/journal.pone.0191546
PMCID:
PMC5774806
AbstractArticlePDF–561K
3.
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
Luis E. León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M. Repetto
Sci Rep. 2017; 7: 1795. Published online 2017 May 11. doi: 10.1038/s41598-017-01896-w
PMCID:
PMC5431949
AbstractArticlePDF–1.6M
4.
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome
María Moreno-Igoa, Blanca Hernández-Charro, Amaya Bengoa-Alonso, Aranzazu Pérez-Juana-del-Casal, Carlos Romero-Ibarra, Beatriz Nieva-Echebarria, María Antonia Ramos-Arroyo
BMC Med Genet. 2015; 16: 68. Published online 2015 Aug 22. doi: 10.1186/s12881-015-0211-0
PMCID:
PMC4593202
AbstractArticlePDF–1.1M
5.
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
AbstractArticlePDF–6.1M
6.
Complex-dependent histone acetyltransferase activity of KAT8 determines its role in transcriptional regulation and cellular homeostasis
Aliaksandra Radzisheuskaya, Pavel V. Shliaha, Vasily V. Grinev, Daria Shlyueva, Helene Damhofer, Richard Koche, Vladimir Gorshkov, Sergey Kovalchuk, Yingqian Zhan, Keli L. Rodriguez, Andrea L. Johnstone, Michael-C Keogh, Ronald C. Hendrickson, Ole N. Jensen, Kristian Helin
Mol Cell. Author manuscript; available in PMC 2022 Apr 15.
Published in final edited form as: Mol Cell. 2021 Feb 23 : S1097-2765(21)00098-8. Published online 2021 Feb 23. doi: 10.1016/j.molcel.2021.02.012
PMCID:
PMC8056186
AbstractArticlePDF–2.3M
7.
MOF and H4 K16 Acetylation Play Important Roles in DNA Damage Repair by Modulating Recruitment of DNA Damage Repair Protein Mdc1
Xiangzhi Li, Callie Ann Sprunger Corsa, Patricia W. Pan, Lipeng Wu, David Ferguson, Xiaochun Yu, Jinrong Min, Yali Dou
Mol Cell Biol. 2010 Nov; 30(22): 5335–5347. Published online 2010 Sep 13. doi: 10.1128/MCB.00350-10
PMCID:
PMC2976376
AbstractArticlePDF–2.9M
8.
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: The GenePD Study
J.E. Tobin, J.C. Latourelle, M.F. Lew, C. Klein, O. Suchowersky, H.A. Shill, L.I. Golbe, M.H. Mark, J.H. Growdon, G.F. Wooten, B.A. Racette, J.S. Perlmutter, R. Watts, M. Guttman, K.B. Baker, S. Goldwurm, G. Pezzoli, C. Singer, M.H. Saint-Hilaire, A.E. Hendricks, S. Williamson, M.W. Nagle, J.B. Wilk, T. Massood, J.M. Laramie, A.L. DeStefano, I. Litvan, G. Nicholson, A. Corbett, S. Isaacson, D.J. Burn, P.F. Chinnery, P.P. Pramstaller, S. Sherman, J. Al-hinti, E. Drasby, M. Nance, A.T. Moller, K. Ostergaard, R. Roxburgh, B. Snow, J.T. Slevin, F. Cambi, J.F. Gusella, R.H. Myers
Neurology. Author manuscript; available in PMC 2009 Jul 1.
Published in final edited form as: Neurology. 2008 Jul 1; 71(1): 28–34. Published online 2008 May 28. doi: 10.1212/01.wnl.0000304051.01650.23
PMCID:
PMC2654275
AbstractArticlePDF–320K
9.
Two mammalian MOF complexes regulate transcription activation by distinct mechanisms
Xiangzhi Li, Lipeng Wu, Callie Ann Sprunger Corsa, Steve Kunkel, Yali Dou
Mol Cell. Author manuscript; available in PMC 2010 Oct 23.
Published in final edited form as: Mol Cell. 2009 Oct 23; 36(2): 290–301. doi: 10.1016/j.molcel.2009.07.031
PMCID:
PMC2768600
AbstractArticlePDF–2.2M
10.
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes
Vladimir Vacic, Laurie J. Ozelius, Lorraine N. Clark, Anat Bar-Shira, Mali Gana-Weisz, Tanya Gurevich, Alexander Gusev, Merav Kedmi, Eimear E. Kenny, Xinmin Liu, Helen Mejia-Santana, Anat Mirelman, Deborah Raymond, Rachel Saunders-Pullman, Robert J. Desnick, Gil Atzmon, Edward R. Burns, Harry Ostrer, Hakon Hakonarson, Aviv Bergman, Nir Barzilai, Ariel Darvasi, Inga Peter, Saurav Guha, Todd Lencz, Nir Giladi, Karen Marder, Itsik Pe'er, Susan B. Bressman, Avi Orr-Urtreger
Hum Mol Genet. 2014 Sep 1; 23(17): 4693–4702. Published online 2014 May 19. doi: 10.1093/hmg/ddu158
PMCID:
PMC4119402
AbstractArticlePDF–713K
11.
Common variants at 6q22 and 17q21 are associated with intracranial volume
M. Arfan Ikram, Myriam Fornage, Albert V. Smith, Sudha Seshadri, Reinhold Schmidt, Stéphanie Debette, Henri A. Vrooman, Sigurdur Sigurdsson, Stefan Ropele, H. Rob Taal, Dennis O. Mook-Kanamori, Laura H. Coker, W.T. Longstreth, Jr., Wiro J. Niessen, Anita L. DeStefano, Alexa Beiser, Alex P. Zijdenbos, Maksim Struchalin, Clifford R. Jack, Jr., Fernando Rivadeneira, Andre G. Uitterlinden, David S. Knopman, Anna-Liisa Hartikainen, Craig E. Pennell, Elisabeth Thiering, Eric A.P. Steegers, Hakon Hakonarson, Joachim Heinrich, Lyle J Palmer, Marjo-Riitta Jarvelin, Mark I. McCarthy, Struan F.A. Grant, Beate St Pourcain, Nicholas J Timpson, George Davey Smith, Ulla Sovio, the EGG consortium, Mike A. Nalls, Rhoda Au, Albert Hofman, Haukur Gudnason, Aad van der Lugt, Tamara B. Harris, William M. Meeks, Meike W. Vernooij, Mark A. van Buchem, Diane Catellier, Vincent W.V. Jaddoe, Vilmundur Gudnason, B. Gwen Windham, Philip A. Wolf, Cornelia M. van Duijn, Thomas H. Mosley, Jr., Helena Schmidt, Lenore J. Launer, Monique M.B. Breteler, Charles DeCarli
Nat Genet. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Nat Genet. 2012 Apr 15; 44(5): 539–544. Published online 2012 Apr 15. doi: 10.1038/ng.2245
Correction in:
volume 44 on page 732
PMCID:
PMC3618290
AbstractArticlePDF–1.9M
12.
An epigenetic regulator emerges as microtubule minus-end binding and stabilizing factor in mitosis
Sylvain Meunier, Maria Shvedunova, Nhuong Van Nguyen, Leonor Avila, Isabelle Vernos, Asifa Akhtar
Nat Commun. 2015; 6: 7889. Published online 2015 Aug 5. doi: 10.1038/ncomms8889
PMCID:
PMC4918316
AbstractArticlePDF–6.1M
13.
Crosstalk between NSL Histone Acetyltransferase and MLL/SET Complexes: NSL Complex Functions in Promoting Histone H3K4 Di-Methylation Activity by MLL/SET Complexes
Xiaoming Zhao, Jiaming Su, Fei Wang, Da Liu, Jian Ding, Yang Yang, Joan W. Conaway, Ronald C. Conaway, Lingling Cao, Donglu Wu, Min Wu, Yong Cai, Jingji Jin
PLoS Genet. 2013 Nov; 9(11): e1003940. Published online 2013 Nov 14. doi: 10.1371/journal.pgen.1003940
PMCID:
PMC3828133
AbstractArticlePDF–1.6M
14.
A Human Protein Complex Homologous to the Drosophila MSL Complex Is Responsible for the Majority of Histone H4 Acetylation at Lysine 16
Edwin R. Smith, Christelle Cayrou, Rong Huang, William S. Lane, Jacques Côté, John C. Lucchesi
Mol Cell Biol. 2005 Nov; 25(21): 9175–9188. doi: 10.1128/MCB.25.21.9175-9188.2005
Correction in:
Mol Cell Biol. 2006 Jan; 26(1): 387.
PMCID:
PMC1265810
AbstractArticlePDF–878K
15.
Genetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study
Imre Noth, Yingze Zhang, Shwu-Fan Ma, Carlos Flores, Mathew Barber, Yong Huang, Steven M Broderick, Michael S Wade, Pirro Hysi, Joseph Scuirba, Thomas J Richards, Brenda M Juan-Guardela, Rekha Vij, MeiLan K Han, Fernando J Martinez, Karl Kossen, Scott D Seiwert, Jason D Christie, Dan Nicolae, Naftali Kaminski, Joe G N Garcia
Lancet Respir Med. Author manuscript; available in PMC 2014 Jun 1.
Published in final edited form as: Lancet Respir Med. 2013 Jun; 1(4): 309–317. Published online 2013 Apr 17. doi: 10.1016/S2213-2600(13)70045-6
PMCID:
PMC3894577
AbstractArticlePDF–400K
16.
Histone demethylase JMJD2B coordinates H3K4/H3K9 methylation and promotes hormonally responsive breast carcinogenesis
Lei Shi, Luyang Sun, Qian Li, Jing Liang, Wenhua Yu, Xia Yi, Xiaohan Yang, Yanyan Li, Xiao Han, Yu Zhang, Chenghao Xuan, Zhi Yao, Yongfeng Shang
Proc Natl Acad Sci U S A. 2011 May 3; 108(18): 7541–7546. Published online 2011 Apr 18. doi: 10.1073/pnas.1017374108
PMCID:
PMC3088624
AbstractArticlePDF–724K
17.
MOF-associated complexes ensure stem cell identity and Xist repression
Tomasz Chelmicki, Friederike Dündar, Matthew James Turley, Tasneem Khanam, Tugce Aktas, Fidel Ramírez, Anne-Valerie Gendrel, Patrick Rudolf Wright, Pavankumar Videm, Rolf Backofen, Edith Heard, Thomas Manke, Asifa Akhtar
eLife. 2014; 3: e02024. Published online 2014 May 19. doi: 10.7554/eLife.02024
PMCID:
PMC4059889
AbstractArticlePDF–9.7M
18.
Subunit Composition and Substrate Specificity of a MOF-containing Histone Acetyltransferase Distinct from the Male-specific Lethal (MSL) Complex
Yong Cai, Jingji Jin, Selene K. Swanson, Michael D. Cole, Seung Hyuk Choi, Laurence Florens, Michael P. Washburn, Joan W. Conaway, Ronald C. Conaway
J Biol Chem. 2010 Feb 12; 285(7): 4268–4272. Published online 2009 Dec 14. doi: 10.1074/jbc.C109.087981
PMCID:
PMC2836030
AbstractArticlePDF–1.2M
19.
Whole-genome sequencing reveals host factors underlying critical COVID-19
Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik, Alex Stuckey, Christopher A. Odhams, Susan Walker, Clark D. Russell, Tomas Malinauskas, Yang Wu, Jonathan Millar, Xia Shen, Katherine S. Elliott, Fiona Griffiths, Wilna Oosthuyzen, Kirstie Morrice, Sean Keating, Bo Wang, Daniel Rhodes, Lucija Klaric, Marie Zechner, Nick Parkinson, Afshan Siddiq, Peter Goddard, Sally Donovan, David Maslove, Alistair Nichol, Malcolm G. Semple, Tala Zainy, Fiona Maleady-Crowe, Linda Todd, Shahla Salehi, Julian Knight, Greg Elgar, Georgia Chan, Prabhu Arumugam, Christine Patch, Augusto Rendon, David Bentley, Clare Kingsley, Jack A. Kosmicki, Julie E. Horowitz, Aris Baras, Goncalo R. Abecasis, Manuel A. R. Ferreira, Anne Justice, Tooraj Mirshahi, Matthew Oetjens, Daniel J. Rader, Marylyn D. Ritchie, Anurag Verma, Tom A. Fowler, Manu Shankar-Hari, Charlotte Summers, Charles Hinds, Peter Horby, Lowell Ling, Danny McAuley, Hugh Montgomery, Peter J. M. Openshaw, Paul Elliott, Timothy Walsh, Albert Tenesa, GenOMICC investigators, 23andMe investigators, COVID-19 Human Genetics Initiative, Angie Fawkes, Lee Murphy, Kathy Rowan, Chris P. Ponting, Veronique Vitart, James F. Wilson, Jian Yang, Andrew D. Bretherick, Richard H. Scott, Sara Clohisey Hendry, Loukas Moutsianas, Andy Law, Mark J. Caulfield, J. Kenneth Baillie
Nature. 2022; 607(7917): 97–103. Published online 2022 Mar 7. doi: 10.1038/s41586-022-04576-6
PMCID:
PMC9259496
AbstractArticlePDF–8.1M
20.
Structural analysis of the KANSL1/WDR5/KANSL2 complex reveals that WDR5 is required for efficient assembly and chromatin targeting of the NSL complex
Jorge Dias, Nhuong Van Nguyen, Plamen Georgiev, Aline Gaub, Janine Brettschneider, Stephen Cusack, Jan Kadlec, Asifa Akhtar
Genes Dev. 2014 May 1; 28(9): 929–942. doi: 10.1101/gad.240200.114
PMCID:
PMC4018492
AbstractArticlePDF–1.6M

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