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Select item 102561391.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Clara Velmans, Anne H O’Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-them, Antonio Vitobello, Marcus CY Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne-Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B.H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian H.Y. Chung, Elliott Sherr, Christian Netzer, Christian P Schaaf, Florian Erger

J Med Genet. Author manuscript; available in PMC 2023 Jun 9.

Published in final edited form as: J Med Genet. 2022 Jul; 59(7): 697–705. Published online 2021 Jul 28. doi: 10.1136/jmedgenet-2020-107470

PMCID:: PMC10256139

Abstract Article PDF–563K

Select item 80243552.

MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model

Diego A. Pereira-Martins, Isabel Weinhäuser, Juan Luiz Coelho-Silva, Pedro L. França-Neto, Luciana Y. Almeida, Thiago M. Bianco, Cleide L. Silva, Rafael F. França, Fabiola Traina, Eduardo M. Rego, Jan Jacob Schuringa, Antonio R. Lucena-Araujo

Cell Death Dis. 2021 Apr; 12(4): 371. Published online 2021 Apr 6. doi: 10.1038/s41419-021-03604-z

PMCID:: PMC8024355

Abstract Article PDF–2.2M

Select item 79355183.

Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review

Yang Li, Lijuan Fan, Rong Luo, Zuozhen Yang, Meng Yuan, Jinxiu Zhang, Jing Gan

Front Pediatr. 2021; 9: 641841. Published online 2021 Feb 18. doi: 10.3389/fped.2021.641841

PMCID:: PMC7935518

Abstract Article PDF–833K

Select item 65568374.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Deciphering Developmental Disorders (DDD) Study, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Jr., Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan

Am J Hum Genet. 2019 Jun 6; 104(6): 1210–1222. Published online 2019 May 9. doi: 10.1016/j.ajhg.2019.03.021

PMCID:: PMC6556837

Abstract Article PDF–1.5M

Select item 45625345.

Impact of MLL5 expression on decitabine efficacy and DNA methylation in acute myeloid leukemia

Haiyang Yun, Frederik Damm, Damian Yap, Adrian Schwarzer, Anuhar Chaturvedi, Nidhi Jyotsana, Michael Lübbert, Lars Bullinger, Konstanze Döhner, Robert Geffers, Samuel Aparicio, R. Keith Humphries, Arnold Ganser, Michael Heuser

Haematologica. 2014 Sep; 99(9): 1456–1464. doi: 10.3324/haematol.2013.101386

PMCID:: PMC4562534

Abstract Article PDF–333K

Select item 3217546.

MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression

Lih-Wen Deng, Isaac Chiu, Jack L. Strominger

Proc Natl Acad Sci U S A. 2004 Jan 20; 101(3): 757–762. Published online 2004 Jan 12. doi: 10.1073/pnas.2036345100

PMCID:: PMC321754

Abstract Article PDF–583K

Select item 50947797.

The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity

Sarah Mas-y-Mas, Marta Barbon, Catherine Teyssier, Hélène Déméné, João E. Carvalho, Louise E. Bird, Andrey Lebedev, Juliana Fattori, Michael Schubert, Christian Dumas, William Bourguet, Albane le Maire

PLoS One. 2016; 11(11): e0165139. Published online 2016 Nov 3. doi: 10.1371/journal.pone.0165139

PMCID:: PMC5094779

Abstract Article PDF–4.8M

Select item 48102978.

MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1

Wei Zhao, Jie Liu, Xiaoming Zhang, Lih-Wen Deng

J Cell Biol. 2016 Mar 28; 212(7): 829–843. doi: 10.1083/jcb.201501021

PMCID:: PMC4810297

Abstract Article PDF–2.7M

Select item 37939749.

Solution NMR Structure and Histone Binding of the PHD Domain of Human MLL5

Alexander Lemak, Adelinda Yee, Hong Wu, Damian Yap, Hong Zeng, Ludmila Dombrovski, Scott Houliston, Samuel Aparicio, Cheryl H. Arrowsmith

PLoS One. 2013; 8(10): e77020. Published online 2013 Oct 9. doi: 10.1371/journal.pone.0077020

PMCID:: PMC3793974

Abstract Article PDF–983K

Select item 350086810.

MLL5 maintains genomic integrity by regulating the stability of the chromosomal passenger complex through a functional interaction with Borealin

Jie Liu, Fei Cheng, Lih-Wen Deng

J Cell Sci. 2012 Oct 1; 125(19): 4676–4685. doi: 10.1242/jcs.110411

PMCID:: PMC3500868

Abstract Article

Select item 289832311.

Phosphorylation of Mixed Lineage Leukemia 5 by Cdc2 Affects Its Cellular Distribution and Is Required for Mitotic Entry

Jie Liu, Xiao Ning Wang, Fei Cheng, Yih-Cherng Liou, Lih-Wen Deng

J Biol Chem. 2010 Jul 2; 285(27): 20904–20914. Published online 2010 May 3. doi: 10.1074/jbc.M109.098558

PMCID:: PMC2898323

Abstract Article PDF–1.9M

Select item 778191012.

MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1

Kyoung-Hwa Lee, Byung-Chan Kim, Chang Wook Jeong, Ja Hyeon Ku, Hyeon Hoe Kim, Cheol Kwak

BMB Rep. 2020 Dec 31; 53(12): 634–639. Published online 2020 Dec 31. doi: 10.5483/BMBRep.2020.53.12.162

PMCID:: PMC7781910

Abstract Article PDF–2.8M

Select item 442583113.

O-GlcNAcylation of MLL5β is essential for MLL5β–AP-1 transcription complex assembly at the HPV16/18-long control region

Dawn Sijin Nin, Weitai Huang, Muzaffar Ali, Chow Wenn Yew, Tatiana G. Kutateladze, Lih-Wen Deng

J Mol Cell Biol. 2015 Apr; 7(2): 180–183. Published online 2015 Feb 10. doi: 10.1093/jmcb/mjv009

PMCID:: PMC4425831

Article PDF–338K

Select item 371082614.

Molecular basis for chromatin binding and regulation of MLL5

Muzaffar Ali, Héctor Rincón-Arano, Wei Zhao, Scott B. Rothbart, Qiong Tong, Susan M. Parkhurst, Brian D. Strahl, Lih-Wen Deng, Mark Groudine, Tatiana G. Kutateladze

Proc Natl Acad Sci U S A. 2013 Jul 9; 110(28): 11296–11301. Published online 2013 Jun 24. doi: 10.1073/pnas.1310156110

PMCID:: PMC3710826

Abstract Article PDF–1.0M

Select item 118062415.

NK cytotoxicity against CD4⁺ T cells during HIV-1 infection: A gp41 peptide induces the expression of an NKp44 ligand

Vincent Vieillard, Jack L. Strominger, Patrice Debré

Proc Natl Acad Sci U S A. 2005 Aug 2; 102(31): 10981–10986. Published online 2005 Jul 26. doi: 10.1073/pnas.0504315102

PMCID:: PMC1180624

Abstract Article PDF–578K

Select item 419413216.

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Shan Dong, Michael F. Walker, Nicholas J. Carriero, Michael DiCola, A. Jeremy Willsey, Adam Y. Ye, Zainulabedin Waqar, Luis E. Gonzalez, John D. Overton, Stephanie Frahm, John F. Keaney, III, Nicole A. Teran, Jeanselle Dea, Jeffrey D. Mandell, Vanessa Hus Bal, Catherine A. Sullivan, Nicholas M. DiLullo, Rehab O. Khalil, Jake Gockley, Zafer Yuksel, Sinem M. Sertel, A. Gulhan Ercan-Sencicek, Abha R. Gupta, Shrikant M. Mane, Michael Sheldon, Andrew I. Brooks, Kathryn Roeder, Bernie Devlin, Matthew W. State, Liping Wei, Stephan J. Sanders

Cell Rep. Author manuscript; available in PMC 2014 Dec 15.

Published in final edited form as: Cell Rep. 2014 Oct 9; 9(1): 16–23. Published online 2014 Oct 2. doi: 10.1016/j.celrep.2014.08.068

PMCID:: PMC4194132

Abstract Article PDF–573K

Select item 587175917.

MLL5 suppresses antiviral innate immune response by facilitating STUB1-mediated RIG-I degradation

Peipei Zhou, Xiaodan Ding, Xiaoling Wan, Lulu Liu, Xiujie Yuan, Wei Zhang, Xinhui Hui, Guangxun Meng, Hui Xiao, Bin Li, Jin Zhong, Fajian Hou, Lihwen Deng, Yan Zhang

Nat Commun. 2018; 9: 1243. Published online 2018 Mar 28. doi: 10.1038/s41467-018-03563-8

PMCID:: PMC5871759

Abstract Article PDF–2.9M

Select item 368255218.

Mixed Lineage Leukemia 5 (MLL5) Protein Regulates Cell Cycle Progression and E2F1-responsive Gene Expression via Association with Host Cell Factor-1 (HCF-1)

Peipei Zhou, Zhilong Wang, Xiujie Yuan, Cuihong Zhou, Lulu Liu, Xiaoling Wan, Feng Zhang, Xiaodan Ding, Chuangui Wang, Sidong Xiong, Zhen Wang, Jinduo Yuan, Qiang Li, Yan Zhang

J Biol Chem. 2013 Jun 14; 288(24): 17532–17543. Published online 2013 Apr 29. doi: 10.1074/jbc.M112.439729

PMCID:: PMC3682552

Abstract Article PDF–1.7M

Select item 359798119.

Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases

N Bögershausen, E Bruford, B Wollnik

Clin Genet. 2013 Mar; 83(3): 212–214. Published online 2012 Nov 27. doi: 10.1111/cge.12050

PMCID:: PMC3597981

Abstract Article PDF–540K

Select item 512561920.

Structural basis for activity regulation of MLL family methyltransferases

Yanjing Li, Jianming Han, Yuebin Zhang, Fang Cao, Zhijun Liu, Shuai Li, Jian Wu, Chunyi Hu, Yan Wang, Jin Shuai, Juan Chen, Liaoran Cao, Dangsheng Li, Pan Shi, Changlin Tian, Jian Zhang, Yali Dou, Guohui Li, Yong Chen, Ming Lei

Nature. Author manuscript; available in PMC 2016 Nov 28.

Published in final edited form as: Nature. 2016 Feb 25; 530(7591): 447–452. Published online 2016 Feb 17. doi: 10.1038/nature16952

PMCID:: PMC5125619

Abstract Article PDF–4.0M

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