Article
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo.
The Journal of experimental medicine - 18 Nov 2013
Abdel-Wahab Omar, Gao Jie, Adli Mazhar, Dey Anwesha, Trimarchi Thomas, Chung Young Rock, Kuscu Cem, Hricik Todd, Ndiaye-Lobry Delphine, Lafave Lindsay M, Koche Richard, Shih Alan H, Guryanova Olga A, Kim Eunhee, Li Sheng, Pandey Suveg, Shin Joseph Y, Telis Leon, Liu Jinfeng, Bhatt Parva K, Monette Sebastien, Zhao Xinyang, Mason Christopher E, Park Christopher Y, Bernstein Bradley E, Aifantis Iannis, Levine Ross L
Abstract excerpt
Somatic Addition of Sex Combs Like 1 (ASXL1) mutations occur in 10-30% of patients with myeloid malignancies, most commonly in myelodysplastic syndromes (MDSs), and are associated with adverse outcome. Germline ASXL1 mutations occur in patients with Bohring-Opitz syndrome. Here, we show that constitutive loss of Asxl1 results in developmental abnormalities, including anophthalmia, microcephaly, cleft palates, and...
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