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Items: 1 to 20 of 33

1.
Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson–Forssman–Lehmann intellectual disability syndrome
Helen M. McRae, Melody P. Y. Leong, Maria I. Bergamasco, Alexandra L. Garnham, Yifang Hu, Mark A. Corbett, Lachlan Whitehead, Farrah El-Saafin, Bilal N. Sheikh, Stephen Wilcox, Anthony J. Hannan, Jozef Gécz, Gordon K. Smyth, Tim Thomas, Anne K. Voss
PLoS Genet. 2024 Oct; 20(10): e1011428. Published online 2024 Oct 15. doi: 10.1371/journal.pgen.1011428
PMCID:
PMC11478892
AbstractArticlePDF–3.7M
2.
PHF6 suppresses self-renewal of leukemic stem cells in AML
Sapana S. Jalnapurkar, Aishwarya S. Pawar, Subin S. George, Charles Antony, Patrick Somers, Jason Grana, Victoria K. Feist, Sandeep Gurbuxani, Vikram R. Paralkar
Leukemia. 2024; 38(9): 1938–1948. Published online 2024 Jul 14. doi: 10.1038/s41375-024-02340-5
PMCID:
PMC11347380
AbstractArticlePDF–5.4M
3.
PHF6 cooperates with SWI/SNF complexes to facilitate transcriptional progression
Priya Mittal, Jacquelyn A. Myers, Raymond D. Carter, Sandi Radko-Juettner, Hayden A. Malone, Wojciech Rosikiewicz, Alexis N. Robertson, Zhexin Zhu, Ishwarya V. Narayanan, Baranda S. Hansen, Meadow Parrish, Natarajan V. Bhanu, Robert J. Mobley, Jerold E. Rehg, Beisi Xu, Yiannis Drosos, Shondra M. Pruett-Miller, Mats Ljungman, Benjamin A. Garcia, Gang Wu, Janet F. Partridge, Charles W. M. Roberts
Nat Commun. 2024; 15: 7303. Published online 2024 Aug 24. doi: 10.1038/s41467-024-51566-5
PMCID:
PMC11344777
AbstractArticlePDF–2.5M
4.
PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS
Dilan Rasool, Audrey Burban, Ahmad Sharanek, Ariel Madrigal, Jinghua Hu, Keqin Yan, Dianbo Qu, Anne K Voss, Ruth S Slack, Tim Thomas, Azad Bonni, David J Picketts, Vahab D Soleimani, Hamed S Najafabadi, Arezu Jahani-Asl
EMBO Rep. 2024 Mar; 25(3): 1256–1281. Published online 2024 Mar 1. doi: 10.1038/s44319-024-00082-0
PMCID:
PMC10933485
AbstractArticlePDF–18M
5.
PHF6 maintains acute myeloid leukemia via regulating NF-κB signaling pathway
Shuaibing Hou, Xiaomin Wang, Tengxiao Guo, Yanjie Lan, Shengnan Yuan, Shuang Yang, Fei Zhao, Aizhong Fang, Na Liu, Wanzhu Yang, Yajing Chu, Erlie Jiang, Tao Cheng, Xiaojian Sun, Weiping Yuan
Leukemia. 2023; 37(8): 1626–1637. Published online 2023 Jul 1. doi: 10.1038/s41375-023-01953-6
PMCID:
PMC10400421
AbstractArticlePDF–6.6M
6.
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Mohammed Selloum, Guillaume Pavlovic, Tania Sorg, Vera M. Kalscheuer, Pierre Billuart, Frédéric Laumonnier, Jamel Chelly, Hans van Bokhoven, Yann Herault
Biomedicines. 2022 Dec; 10(12): 3148. Published online 2022 Dec 6. doi: 10.3390/biomedicines10123148
PMCID:
PMC9775489
AbstractArticlePDF–2.8M
7.
The ATG5 interactome links clathrin-mediated vesicular trafficking with the autophagosome assembly machinery
Kiren Baines, Kazuaki Yoshioka, Yoh Takuwa, Jon D. Lane
Autophagy Rep. 2022; 1(1): 88–118. Published online 2022 Apr 7. doi: 10.1080/27694127.2022.2042054
PMCID:
PMC9015699
AbstractArticlePDF–3.3M
8.
PHF6 and JAK3 mutations cooperate to drive T-cell acute lymphoblastic leukemia progression
Shengnan Yuan, Xiaomin Wang, Shuaibing Hou, Tengxiao Guo, Yanjie Lan, Shuang Yang, Fei Zhao, Juan Gao, Yuxia Wang, Yajing Chu, Jun Shi, Tao Cheng, Weiping Yuan
Leukemia. 2022; 36(2): 370–382. Published online 2021 Aug 31. doi: 10.1038/s41375-021-01392-1
PMCID:
PMC8807395
AbstractArticlePDF–3.3M
9.
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development
Francesco Bedogni, Robert F. Hevner
Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034
PMCID:
PMC8313239
AbstractArticlePDF–1.6M
10.
Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson–Forssman–Lehmann Syndrome
Raies Ahmed, Shihab Sarwar, Jinghua Hu, Valérie Cardin, Lily R Qiu, Gerardo Zapata, Lucianne Vandeleur, Keqin Yan, Jason P Lerch, Mark A Corbett, Jozef Gecz, David J Picketts
Hum Mol Genet. 2021 Apr 1; 30(7): 575–594. Published online 2021 Mar 26. doi: 10.1093/hmg/ddab081
PMCID:
PMC8120135
AbstractArticlePDF–2.4M
11.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
12.
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia
Helen M. McRae, Alexandra L. Garnham, Yifang Hu, Matthew T. Witkowski, Mark A. Corbett, Mathew P. Dixon, Rose E. May, Bilal N. Sheikh, William Chiang, Andrew J. Kueh, Tan A. Nguyen, Kevin Man, Renee Gloury, Brandon J. Aubrey, Antonia Policheni, Ladina Di Rago, Warren S. Alexander, Daniel H. D. Gray, Andreas Strasser, Edwin D. Hawkins, Stephen Wilcox, Jozef Gécz, Axel Kallies, Matthew P. McCormack, Gordon K. Smyth, Anne K. Voss, Tim Thomas
Blood. 2019 Apr 18; 133(16): 1729–1741. Prepublished online 2019 Feb 12. doi: 10.1182/blood-2018-07-860726
PMCID:
PMC6695515
AbstractArticle
13.
Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials
Yueh-Chwen Hsu, Tsung-Chih Chen, Chien-Chin Lin, Chang-Tsu Yuan, Chia-Lang Hsu, Hsin-An Hou, Chein-Jun Kao, Po-Han Chuang, Yu-Ren Chen, Wen-Chien Chou, Hwei-Fang Tien
Blood Adv. 2019 Aug 13; 3(15): 2355–2367. Published online 2019 Aug 8. doi: 10.1182/bloodadvances.2019000391
PMCID:
PMC6693005
AbstractArticlePDF–2.1M
14.
Phf6 loss enhances HSC self-renewal driving tumor initiation and leukemia stem cell activity in T-ALL.
Agnieszka A. Wendorff, S. Aidan Quinn, Marissa Rashkovan, Chioma J. Madubata, Alberto Ambesi-Impiombato, Mark R. Litzow, Martin S. Tallman, Elisabeth Paietta, Maddalena Paganin, Giuseppe Basso, Julie M. Gastier-Foster, Mignon L. Loh, Raul Rabadan, Pieter Van Vlierberghe, Adolfo A. Ferrando
Cancer Discov. Author manuscript; available in PMC 2020 Mar 1.
Published in final edited form as: Cancer Discov. 2019 Mar; 9(3): 436–451. Published online 2018 Dec 19. doi: 10.1158/2159-8290.CD-18-1005
PMCID:
PMC6425751
AbstractArticlePDF–1.0M
15.
Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome
Cheng Cheng, Pan-Yue Deng, Yoshiho Ikeuchi, Carla Yuede, Daofeng Li, Nicholas Rensing, Ju Huang, Dustin Baldridge, Susan E. Maloney, Joseph D. Dougherty, John Constantino, Arezu Jahani-Asl, Michael Wong, David F. Wozniak, Ting Wang, Vitaly A. Klyachko, Azad Bonni
Cell Rep. Author manuscript; available in PMC 2018 Nov 28.
Published in final edited form as: Cell Rep. 2018 Nov 6; 25(6): 1404–1414.e6. doi: 10.1016/j.celrep.2018.10.043
PMCID:
PMC6261530
AbstractArticlePDF–991K
16.
PHF6 regulates phenotypic plasticity through chromatin organization within lineage-specific genes
Yadira M. Soto-Feliciano, Jordan M.E. Bartlebaugh, Yunpeng Liu, Francisco J. Sánchez-Rivera, Arjun Bhutkar, Abraham S. Weintraub, Jason D. Buenrostro, Christine S. Cheng, Aviv Regev, Tyler E. Jacks, Richard A. Young, Michael T. Hemann
Genes Dev. 2017 May 15; 31(10): 973–989. doi: 10.1101/gad.295857.117
PMCID:
PMC5495126
AbstractArticlePDF–12M
17.
High-throughput discovery of novel developmental phenotypes
Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray
Nature. Author manuscript; available in PMC 2017 Mar 14.
Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356
Correction in:
Nature. 2017 Nov 16; 551(7680): 398.
PMCID:
PMC5295821
AbstractArticlePDF–3.0M
18.
Towards Functional Annotation of the Preimplantation Transcriptome: An RNAi Screen in Mammalian Embryos
Wei Cui, Xiangpeng Dai, Chelsea Marcho, Zhengbin Han, Kun Zhang, Kimberly D. Tremblay, Jesse Mager
Sci Rep. 2016; 6: 37396. Published online 2016 Nov 21. doi: 10.1038/srep37396
PMCID:
PMC5116644
AbstractArticlePDF–2.1M
19.
miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6
Eleonora Franzoni, Sam A Booker, Srinivas Parthasarathy, Frederick Rehfeld, Sabine Grosser, Swathi Srivatsa, Heiko R Fuchs, Victor Tarabykin, Imre Vida, F Gregory Wulczyn
eLife. 2015; 4: e04263. Published online 2015 Jan 3. doi: 10.7554/eLife.04263
PMCID:
PMC4337614
AbstractArticlePDF–4.5M
20.
A cooperative microRNA-tumor suppressor gene network in acute T-cell lymphoblastic leukemia (T-ALL)
Konstantinos J Mavrakis, Joni Van Der Meulen, Andrew L Wolfe, Xiaoping Liu, Evelien Mets, Tom Taghon, Aly A Khan, Manu Setty, Pieter Rondou, Peter Vandenberghe, Eric Delabesse, Yves Benoit, Nicholas B Socci, Christina S Leslie, Pieter Van Vlierberghe, Frank Speleman, Hans-Guido Wendel
Nat Genet. Author manuscript; available in PMC 2014 Aug 5.
Published in final edited form as: Nat Genet. 2011 Jul; 43(7): 673–678. Published online 2011 Jun 5. doi: 10.1038/ng.858
Correction in:
volume 43 on page 815
PMCID:
PMC4121855
AbstractArticlePDF–1.4M

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