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Items: 1 to 20 of 24

1.
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham, Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian
Am J Med Genet A. 2023 Jan; 191(1): 29–36. Published online 2022 Sep 29. doi: 10.1002/ajmg.a.62981
PMCID:
PMC10087684
AbstractArticlePDF–1.8M
2.
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome
Daniel C. Koboldt, Theresa Mihalic Mosher, Benjamin J. Kelly, Emily Sites, Dennis Bartholomew, Scott E. Hickey, Kim McBride, Richard K. Wilson, Peter White
Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002410. doi: 10.1101/mcs.a002410
PMCID:
PMC5983172
AbstractArticlePDF–1.1M
3.
ASXL3 is a Novel Pluripotency Factor in Human Respiratory Epithelial Cells and a Potential Therapeutic Target in Small Cell Lung Cancer
Vivek Shukla, Mahadev Rao, Hongen Zhang, Jeanette Beers, Darawalee Wangsa, Danny Wangsa, Floryne O. Buishand, Yonghong Wang, Zhiya Yu, Holly S. Stevenson, Emily S. Reardon, Kaitlin C. McLoughlin, Andrew S. Kaufman, Eden C. Payabyab, Julie A. Hong, Mary Zhang, Sean Davis, Daniel Edelman, Guokai Chen, Markku M. Miettinen, Nicholas P. Restifo, Thomas Ried, Paul A. Meltzer, David S. Schrump
Cancer Res. Author manuscript; available in PMC 2018 Nov 15.
Published in final edited form as: Cancer Res. 2017 Nov 15; 77(22): 6267–6281. Published online 2017 Sep 21. doi: 10.1158/0008-5472.CAN-17-0570
PMCID:
PMC5690859
AbstractArticlePDF–2.9M
4.
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Eur J Hum Genet. 2017 Feb; 25(2): 183–191. Published online 2016 Nov 30. doi: 10.1038/ejhg.2016.165
PMCID:
PMC5255962
AbstractArticlePDF–650K
5.
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
Darrell L Dinwiddie, Sarah E Soden, Carol J Saunders, Neil A Miller, Emily G Farrow, Laurie D Smith, Stephen F Kingsmore
BMC Med Genomics. 2013; 6: 32. Published online 2013 Sep 17. doi: 10.1186/1755-8794-6-32
PMCID:
PMC3851682
AbstractArticlePDF–371K
6.
Functional and cancer genomics of ASXL family members
M Katoh
Br J Cancer. 2013 Jul 23; 109(2): 299–306. Published online 2013 Jun 4. doi: 10.1038/bjc.2013.281
PMCID:
PMC3721406
AbstractArticlePDF–329K
7.
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
Matthew N Bainbridge, Hao Hu, Donna M Muzny, Luciana Musante, James R Lupski, Brett H Graham, Wei Chen, Karen W Gripp, Kim Jenny, Thomas F Wienker, Yaping Yang, V Reid Sutton, Richard A Gibbs, H Hilger Ropers
Genome Med. 2013; 5(2): 11. Published online 2013 Feb 5. doi: 10.1186/gm415
PMCID:
PMC3707024
AbstractArticlePDF–1.3M
8.
Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature
Vishnu Anand Cuddapah, Holly A. Dubbs, Laura Adang, Steven L. Kugler, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Xilma R. Ortiz-González, Shana McCormack, Elaine Zackai, Daniel J. Licht, Marni J. Falk, Eric D. Marsh
Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 1.
Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1700–1711. Published online 2021 Mar 10. doi: 10.1002/ajmg.a.62156
PMCID:
PMC8842511
AbstractArticlePDF–442K
9.
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome
Anshika Srivastava, K.C. Ritesh, Yao-Chang Tsan, Rosy Liao, Fengyun Su, Xuhong Cao, Mark C. Hannibal, Catherine E. Keegan, Arul M. Chinnaiyan, Donna M. Martin, Stephanie L. Bielas
Hum Mol Genet. 2016 Feb 1; 25(3): 597–608. Published online 2015 Dec 8. doi: 10.1093/hmg/ddv499
PMCID:
PMC4731023
AbstractArticlePDF–649K
10.
ASXL3 bridges BRD4 to BAP1 complex and governs enhancer activity in small cell lung cancer
Aileen Patricia Szczepanski, Zibo Zhao, Tori Sosnowski, Young Ah Goo, Elizabeth Thomas Bartom, Lu Wang
Genome Med. 2020; 12: 63. Published online 2020 Jul 15. doi: 10.1186/s13073-020-00760-3
PMCID:
PMC7362484
AbstractArticlePDF–4.2M
11.
Genome-Wide Association Study of Lung Function Phenotypes in a Founder Population
Tsung-Chieh Yao, Gaixin Du, Lide Han, Ying Sun, Donglei Hu, James J. Yang, Rasika Mathias, Lindsey A. Roth, Nicholas Rafaels, Emma E. Thompson, Dagan A. Loisel, Rebecca Anderson, Celeste Eng, Maitane Arruabarrena Orbegozo, Melody Young, James M. Klocksieben, Elizabeth Anderson, Kathleen Shanovich, Lucille A. Lester, L. Keoki Williams, Kathleen C. Barnes, Esteban G. Burchard, Dan L. Nicolae, Mark Abney, Carole Ober
J Allergy Clin Immunol. Author manuscript; available in PMC 2015 Jan 1.
Published in final edited form as: J Allergy Clin Immunol. 2014 Jan; 133(1): 248–55.e1-10. Published online 2013 Aug 6. doi: 10.1016/j.jaci.2013.06.018
PMCID:
PMC4270121
AbstractArticlePDF–595K
12.
Resetting the Epigenetic Balance of Polycomb and COMPASS Function at Enhancers for Cancer Therapy
Lu Wang, Zibo Zhao, Patrick Alexander Ozark, Damiano Fantini, Stacy A. Marshall, Emily J. Rendleman, Kira A. Cozzolino, Nundia Louis, Xingyao He, Marc A. Morgan, Yoh-hei Takahashi, Clayton K. Collings, Edwin R. Smith, Panagiotis Ntziachristos, Jeffrey N. Savas, Lihua Zou, Rintaro Hashizume, Joshua J. Meeks, Ali Shilatifard
Nat Med. Author manuscript; available in PMC 2018 Dec 1.
Published in final edited form as: Nat Med. 2018 Jun; 24(6): 758–769. Published online 2018 May 21. doi: 10.1038/s41591-018-0034-6
PMCID:
PMC6055231
AbstractArticlePDF–1.5M
13.
Genome Wide Association Study (GWAS) of Chagas Cardiomyopathy in Trypanosoma cruzi Seropositive Subjects
Xutao Deng, Ester C. Sabino, Edecio Cunha-Neto, Antonio L. Ribeiro, Barbara Ianni, Charles Mady, Michael P. Busch, Mark Seielstad, the REDSII Chagas study group from the NHLBI Retrovirus Epidemiology Donor Study-II (REDS-II), International Component
PLoS One. 2013; 8(11): e79629. Published online 2013 Nov 20. doi: 10.1371/journal.pone.0079629
PMCID:
PMC3854669
AbstractArticlePDF–408K
14.
Interaction network of human early embryonic transcription factors
Lisa Gawriyski, Zenglai Tan, Xiaonan Liu, Iftekhar Chowdhury, Dicle Malaymar Pinar, Qin Zhang, Jere Weltner, Eeva-Mari Jouhilahti, Gong-Hong Wei, Juha Kere, Markku Varjosalo
EMBO Rep. 2024 Mar; 25(3): 1589–1622. Published online 2024 Jan 31. doi: 10.1038/s44319-024-00074-0
PMCID:
PMC10933267
AbstractArticlePDF–2.9M
15.
A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition
Yahya Benslimane, María Sánchez‐Osuna, Jasmin Coulombe‐Huntington, Thierry Bertomeu, Danielle Henry, Caroline Huard, Éric Bonneil, Pierre Thibault, Mike Tyers, Lea Harrington
Aging Cell. 2021 Apr; 20(4): e13331. Published online 2021 Mar 4. doi: 10.1111/acel.13331
PMCID:
PMC8045932
AbstractArticlePDF–1.9M
16.
MBD5 and MBD6 stabilize the BAP1 complex and promote BAP1-dependent cancer
Natsumi Tsuboyama, Aileen Patricia Szczepanski, Zibo Zhao, Lu Wang
Genome Biol. 2022; 23: 206. Published online 2022 Sep 30. doi: 10.1186/s13059-022-02776-x
PMCID:
PMC9523997
AbstractArticlePDF–6.9M
17.
New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing
Fernanda Luisa Basei, Gabriela Vaz Meirelles, Germanna Lima Righetto, Deivid Lucas dos Santos Migueleti, Juliana Helena Costa Smetana, Jörg Kobarg
Proteome Sci. 2015; 13: 11. Published online 2015 Feb 26. doi: 10.1186/s12953-015-0065-6
PMCID:
PMC4367857
AbstractArticlePDF–3.1M
18.
Shotgun sequencing of the human transcriptome with ORF expressed sequence tags
Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson
Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491
PMCID:
PMC16267
AbstractArticlePDF–111K
19.
TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile
Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert
Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116
Correction in:
Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.
PMCID:
PMC6600915
AbstractArticlePDF–1.7M
20.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M

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