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implicate Asxl1 in the maintenance of podocyte structure via its association with Wtip (show WTIP ELISA Kits) and in the regulation of WT1 (show WT1 ELISA Kits) signaling during early kidney development
ASXL1 truncation mutations confer gain-of-function on the ASXL-BAP1 (show BAP1 ELISA Kits) complex.
Asxl1-/- fetuses have reduced body weight and display cleft palate, anophthalmia as well as ventricular septal defects and a failure in lung maturation.
Asxl1 functions as a tumor suppressor to maintain hematopoietic cell homeostasis
C-terminal-truncating Asxl1 mutations inhibited myeloid differentiation and induced myelodysplastic syndrome-like disease
Constitutive loss of Asxl1 results in developmental abnormalities, including anophthalmia, microcephaly, cleft palate, and mandibular malformations. Hematopoietic-specific deletion results in cytopenia and dysplasia with increased hematopoietic stem cells
ASXL1 represses, whereas ASXL2 (show ASXL2 ELISA Kits) increases, the expression of adipogenic genes, most of which are PPARgamma (show PPARG ELISA Kits) targets
Asxl1 is needed for normal hematopoiesis.
Asxl1and Asxl2 (show ASXL2 ELISA Kits) are expressed as multiple transcripts, at varying levels, in adult tissues and in embryonic stem cells analyzed by Northern blot, and exhibit similar expression patterns suggesting they may be co-regulated
ASXL1 is a novel coactivator of RAR (show RARA ELISA Kits) that cooperates with SRC-1 (show NCOA1 ELISA Kits)
the present results indicate that the truncating ASXL1 mutant is indeed expressed in MDS (show PAFAH1B1 ELISA Kits) cells and may play a role in MDS (show PAFAH1B1 ELISA Kits) pathogenesis not previously considered.
Chronic myelomonocytic leukemia has an inherent tendency to transform to acute myeloid leukemia (show BCL11A ELISA Kits). Gene mutations involving ASXL1 are frequent and identified to have an independent negative prognostic effect on overall survival.
This study showed that the BAP1 (show RNF2 ELISA Kits) C-terminal extension is important for H2A deubiquitination but needs to be activated by the DEUBAD domains of ASXL1 or its relatives.
Somatic mutations in ASXL1 are associated with myeloid malignancies.
ASXL1 and TP53 (show TP53 ELISA Kits) mutations identify two molecular subgroups among AML (show RUNX1 ELISA Kits)-MRCs, with specific poor prognosis. This could be useful for future diagnostic and prognostic classifications.
Data show that additional sex combs like 1 (Drosophila) protein (ASXL1) mutational status can improve the risk stratification of patients with acute myeloid leukemia (show BCL11A ELISA Kits) in the setting of integrated mutational profiling.
ASXL1 truncation mutations confer gain-of-function on the ASXL-BAP1 (show RNF2 ELISA Kits) complex.
Data indicate that 8 of 190 patients with essential thrombocythemia with calreticulin (CALR (show CALR ELISA Kits)) mutation had an additional Sex Comb-Like 1 protein (ASXL1) mutation.
USP7 (show USP7 ELISA Kits) demonstrated that USP7 (show USP7 ELISA Kits) bound to both ASXL1-WT and ASXL1-MT
ASXL1, ASXL2 and ASXL3 are epigenetic scaffold proteins that are involved in the pathogenesis of non-cancerous diseases and cancers. [Review]
This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants.
additional sex combs like 1
, additional sex combs-like protein 1
, putative Polycomb group protein ASXL1