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Select item 101193771.

Non-driver mutations landscape in different stages of primary myelofibrosis determined ASXL1 mutations play a critical role in disease progression

Xin Yan, Zefeng Xu, Peihong Zhang, Qi Sun, Yujiao Jia, Tiejun Qin, Shiqiang Qu, Lijuan Pan, Zhanqi Li, Jinqin Liu, Zhen Song, Qingyan Gao, Meng Jiao, Jingye Gong, Huijun Wang, Bing Li, Zhijian Xiao

Blood Cancer J. 2023 Dec; 13(1): 56. Published online 2023 Apr 20. doi: 10.1038/s41408-023-00829-3

PMCID:: PMC10119377

Article PDF–1.0M

Select item 96168672.

Prognostic impact of ASXL1 mutations in chronic phase chronic myeloid leukemia

Aram Bidikian, Hagop Kantarjian, Elias Jabbour, Nicholas J. Short, Keyur Patel, Farhad Ravandi, Koji Sasaki, Ghayas C. Issa

Blood Cancer J. 2022 Oct; 12(10): 144. Published online 2022 Oct 28. doi: 10.1038/s41408-022-00742-1

PMCID:: PMC9616867

Article PDF–818K

Select item 90924223.

ASXL1 mutations are prognostically significant in PMF, but not MF following essential thrombocythemia or polycythemia vera

Paola Guglielmelli, Giacomo Coltro, Francesco Mannelli, Giada Rotunno, Giuseppe G. Loscocco, Carmela Mannarelli, Chiara Maccari, Chiara Paoli, Simone Romagnoli, Niccolò Bartalucci, Alessandro M. Vannucchi

Blood Adv. 2022 May 10; 6(9): 2927–2931. Published online 2022 May 9. doi: 10.1182/bloodadvances.2021006350

PMCID:: PMC9092422

Article PDF–839K

Select item 89310484.

Oncogenic gene expression and epigenetic remodeling of cis-regulatory elements in ASXL1-mutant chronic myelomonocytic leukemia

Moritz Binder, Ryan M. Carr, Terra L. Lasho, Christy M. Finke, Abhishek A. Mangaonkar, Christopher L. Pin, Kurt R. Berger, Amelia Mazzone, Sandeep Potluri, Tamas Ordog, Keith D. Robertson, David L. Marks, Martin E. Fernandez-Zapico, Alexandre Gaspar-Maia, Mrinal M. Patnaik

Nat Commun. 2022; 13: 1434. Published online 2022 Mar 17. doi: 10.1038/s41467-022-29142-6

PMCID:: PMC8931048

Article PDF–4.2M

Select item 85072865.

ASXL1 promotes adrenocortical carcinoma and is associated with chemoresistance to EDP regimen

Liang Wang, Yinfeng Lyu, Yuqing Li, Kunping Li, Hui Wen, Chenchen Feng, Ning Li

Aging (Albany NY) 2021 Sep 30; 13(18): 22286–22297. Published online 2021 Sep 18. doi: 10.18632/aging.203534

Correction in:: Aging (Albany NY). 2023 Oct 31; 15(20): 11690–11691.

PMCID:: PMC8507286

Article PDF–1.5M

Select item 84555716.

ASXL1 mutations are associated with distinct epigenomic alterations that lead to sensitivity to venetoclax and azacytidine

Nora E. Rahmani, Nandini Ramachandra, Srabani Sahu, Nadege Gitego, Andrea Lopez, Kith Pradhan, Tushar D. Bhagat, Shanisha Gordon-Mitchell, Bianca Rivera Pena, Mohammad Kazemi, Keshav Rao, Orsi Giricz, Shahina Bano Maqbool, Raul Olea, Yongmei Zhao, Jinghang Zhang, Hamid Dolatshad, Vickram Tittrea, Dharamveer Tatwavedi, Shalini Singh, Juseong Lee, Tianyu Sun, Ulrich Steidl, Aditi Shastri, Daichi Inoue, Omar Abdel-Wahab, Andrea Pellagatti, Evripidis Gavathiotis, Jacqueline Boultwood, Amit Verma

Blood Cancer J. 2021 Sep; 11(9): 157. Published online 2021 Sep 21. doi: 10.1038/s41408-021-00541-0

PMCID:: PMC8455571

Article PDF–2.8M

Select item 79482607.

Genomic analysis of primary and secondary myelofibrosis redefines the prognostic impact of ASXL1 mutations: a FIM study

Damien Luque Paz, Jérémie Riou, Emmanuelle Verger, Bruno Cassinat, Aurélie Chauveau, Jean-Christophe Ianotto, Brigitte Dupriez, Françoise Boyer, Maxime Renard, Olivier Mansier, Anne Murati, Jérôme Rey, Gabriel Etienne, Véronique Mansat-De Mas, Suzanne Tavitian, Olivier Nibourel, Stéphane Girault, Yannick Le Bris, François Girodon, Dana Ranta, Jean-Claude Chomel, Pascale Cony-Makhoul, Pierre Sujobert, Margot Robles, Raouf Ben Abdelali, Olivier Kosmider, Laurane Cottin, Lydia Roy, Ivan Sloma, Fabienne Vacheret, Mathieu Wemeau, Pascal Mossuz, Borhane Slama, Vincent Cussac, Guillaume Denis, Anouk Walter-Petrich, Barbara Burroni, Nathalie Jézéquel, Stéphane Giraudier, Eric Lippert, Gérard Socié, Jean-Jacques Kiladjian, Valérie Ugo

Blood Adv. 2021 Mar 9; 5(5): 1442–1451. Published online 2021 Mar 5. doi: 10.1182/bloodadvances.2020003444

PMCID:: PMC7948260

Article PDF–1.1M

Select item 78175698.

Prognostic value of ASXL1 mutations in patients with primary myelofibrosis and its relationship with clinical features: a meta-analysis

Ziqing Wang, Weiyi Liu, Mingjing Wang, Yujin Li, Xueying Wang, Erpeng Yang, Jing Ming, Richeng Quan, Xiaomei Hu

Ann Hematol. 2021; 100(2): 465–479. Published online 2021 Jan 2. doi: 10.1007/s00277-020-04387-7

PMCID:: PMC7817569

Article PDF–2.6M

Select item 72864569.

ASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia‐related changes and normal karyotype

Concepción Prats‐Martín, Sergio Burillo‐Sanz, Rosario M. Morales‐Camacho, Olga Pérez‐López, Milagros Suito, Maria T. Vargas, Teresa Caballero‐Velázquez, Estrella Carrillo‐Cruz, José González, Ricardo Bernal, José A. Pérez‐Simón

Cancer Med. 2020 Jun; 9(11): 3637–3646. Published online 2020 Mar 26. doi: 10.1002/cam4.2947

PMCID:: PMC7286456

Article PDF–455K

Select item 711662810.

A de novo truncating mutation in ASXL1 associated with segmental overgrowth

Stephanie Efthymiou, Vincenzo Salpietro, Erica Pironti, Maria Bonsignore, Valentina Ferrazzoli, Gabriella Di Rosa, Henry Houlden

J Genet. Author manuscript; available in PMC 2021 Jan 25.

Published in final edited form as: J Genet. 2019 Dec 1; 98: 108. Published online 2019 Nov 22. doi: 10.1007/s12041-019-1155-5

PMCID:: PMC7116628

Article PDF–619K

Select item 652492711.

Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development

Friederike Matheus, Ejona Rusha, Rizwan Rehimi, Lena Molitor, Anna Pertek, Miha Modic, Regina Feederle, Andrew Flatley, Elisabeth Kremmer, Arie Geerlof, Valentyna Rishko, Alvaro Rada-Iglesias, Micha Drukker

Stem Cell Reports. 2019 May 14; 12(5): 861–868. Published online 2019 Apr 18. doi: 10.1016/j.stemcr.2019.03.006

PMCID:: PMC6524927

Article PDF–1.4M

Select item 640259512.

Discriminating a common somatic ASXL1 mutation (c.1934dup; p.G646Wfs*12) from artifact in myeloid malignancies using NGS

Michael O. Alberti, Sridhar Nonavinkere Srivatsan, Jin Shao, Samantha N. McNulty, Gue Su Chang, Christopher A. Miller, Jennifer B. Dunlap, Fei Yang, Richard D. Press, Qingsong Gao, Li Ding, Jonathan W. Heusel, Eric J. Duncavage, Matthew J. Walter

Leukemia. Author manuscript; available in PMC 2019 Mar 6.

Published in final edited form as: Leukemia. 2018 Aug; 32(8): 1874–1878. Published online 2018 Jun 29. doi: 10.1038/s41375-018-0193-y

PMCID:: PMC6402595

Article PDF–1.1M

Select item 614108713.

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, Elijah J. Lohman, Bedia A. Barkoh, Rashmi Kanagal-Shamanna, Carlos E. Bueso-Ramos, Rajesh R. Singh, L. Jeffrey Medeiros, Raja Luthra, Keyur P. Patel

PLoS One. 2018; 13(9): e0204218. Published online 2018 Sep 17. doi: 10.1371/journal.pone.0204218

PMCID:: PMC6141087

Article PDF–1.3M

Select item 605640014.

Poor Prognostic Implication of ASXL1 Mutations in Korean Patients With Chronic Myelomonocytic Leukemia

Hyun-Young Kim, Ki-O Lee, Silvia Park, Jun Ho Jang, Chul Won Jung, Sun-Hee Kim, Hee-Jin Kim

Ann Lab Med. 2018 Nov; 38(6): 495–502. Published online 2018 Jul 18. doi: 10.3343/alm.2018.38.6.495

PMCID:: PMC6056400

Article PDF–344K

Select item 584340115.

CRISPR/Cas9-mediated ASXL1 mutations in U937 cells disrupt myeloid differentiation

Zhi-Jie Wu, Xin Zhao, Lauren G. Banaszak, Fernanda Gutierrez-Rodrigues, Keyvan Keyvanfar, Shou-Guo Gao, Diego Quinones Raffo, Sachiko Kajigaya, Neal S. Young

Int J Oncol. 2018 Apr; 52(4): 1209–1223. Published online 2018 Feb 28. doi: 10.3892/ijo.2018.4290

PMCID:: PMC5843401

Article PDF–3.2M

Select item 580252316.

ASXL1 frameshift mutations drive inferior outcomes in CMML without negative impact in MDS

David A Sallman, Rami Komrokji, Thomas Cluzeau, Christine Vaupel, Najla H Al Ali, Jeffrey Lancet, Jeff Hall, Alan List, Eric Padron, Jinming Song

Blood Cancer J. 2017 Dec; 7(12): 633. Published online 2017 Nov 27. doi: 10.1038/s41408-017-0004-0

PMCID:: PMC5802523

Article PDF–396K

Select item 580245517.

ASXL1 c.1934dup;p.Gly646Trpfs*12—a true somatic alteration requiring a new approach

Costas K. Yannakou, Kate Jones, Michelle McBean, Ella R. Thompson, Georgina L. Ryland, Ken Doig, John Markham, David Westerman, Piers Blombery

Blood Cancer J. 2017 Dec; 7(12): 656. Published online 2017 Dec 20. doi: 10.1038/s41408-017-0025-8

PMCID:: PMC5802455

Article PDF–582K

Select item 568523218.

Mutated ASXL1 and number of somatic mutations as possible indicators of progression to chronic myelomonocytic leukemia of myelodysplastic syndromes with single or multilineage dysplasia

Ana Valencia-Martinez, Alessandro Sanna, Erico Masala, Elisa Contini, Alice Brogi, Antonella Gozzini, Valeria Santini

Haematologica. 2017 Sep; 102(9): e332–e335. doi: 10.3324/haematol.2017.166124

PMCID:: PMC5685232

Article PDF–676K

Select item 553380219.

Epigenetic changes in myelofibrosis: Distinct methylation changes in the myeloid compartments and in cases with ASXL1 mutations

Helene Myrtue Nielsen, Christen Lykkegaard Andersen, Maj Westman, Lasse Sommer Kristensen, Fazila Asmar, Torben Arvid Kruse, Mads Thomassen, Thomas Stauffer Larsen, Vibe Skov, Lise Lotte Hansen, Ole Weis Bjerrum, Hans Carl Hasselbalch, Vasu Punj, Kirsten Grønbæk

Sci Rep. 2017; 7: 6774. Published online 2017 Jul 28. doi: 10.1038/s41598-017-07057-3

Correction in:: Sci Rep. 2018; 8: 17311.

PMCID:: PMC5533802

Article PDF–1.6M

Select item 548727620.

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Colleen M. Carlston, Anne H. O’Donnell-Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric V. Minikel, Daniel P. Birnbaum, Exome Aggregation Consortium, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao

Hum Mutat. Author manuscript; available in PMC 2018 May 1.

Published in final edited form as: Hum Mutat. 2017 May; 38(5): 517–523. Published online 2017 Mar 21. doi: 10.1002/humu.23203

PMCID:: PMC5487276

Article PDF–216K

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