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This study proposed the first Asxl1 mutation knock-in mouse model and showed mutated Asxl1 lowered the threshold of MN1-driven engraftment and exhibited distinct biological functions on physiological and malignant hematopoiesis, although it was insufficient to lead to blood malignancies.
Loss of Asxl1 alters self-renewal and cell fate of bone marrow stromal cell, leading to Bohring-Opitz-like syndrome in mice.
implicate Asxl1 in the maintenance of podocyte structure via its association with Wtip (show WTIP Proteins) and in the regulation of WT1 (show WT1 Proteins) signaling during early kidney development
ASXL1 truncation mutations confer gain-of-function on the ASXL-BAP1 (show BAP1 Proteins) 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 increases, the expression of adipogenic genes, most of which are PPARgamma (show PPARG Proteins) targets
Asxl1 is needed for normal hematopoiesis.
Patients harbouring ASXL1 and/or CBL (show CBL Proteins) mutations (n = 8, 8 deaths, median OS = 11 months) had a significantly worse OS as compared to those without either mutation (n = 11, 4 deaths, median OS = 84 months) (P = 0.0002) (Fig 1a).
Patients with mutations 6 showed higher rate of achieving major molecular response than those<6 (P=0.0381). Mutations in epigenetic regulator, ASXL1, TET2, TET3, KDM1A (show KDM1A Proteins) and MSH6 (show MSH6 Proteins) were found in 25% of patients. TET2 or TET3, AKT1 (show AKT1 Proteins) and RUNX1 (show RUNX1 Proteins) were mutated in one patient each. ASXL1 was mutated within exon 12 in three cases
TET2, ASXL1, IDH1 (show IDH1 Proteins), and IDH2 (show IDH2 Proteins) Single Nucleotide Polymorphisms in Turkish Patients with Chronic Myeloproliferative Neoplasms.
Hypermethylation of the CTNNA1 (show CTNNA1 Proteins) promoter was associated with unfavorable karyotype, and possessed the higher frequency of coexisting with ASXL1 and RUNX1 (show RUNX1 Proteins) mutations.
Mutations in genes associated with epigenetic regulations such as DNMT3A (show DNMT3A Proteins) and ASXL1 seem to play an important role in the pathogenesis of CML (show BCR Proteins) progression and TKI-resistance independent of ABL1 (show ABL1 Proteins) KD mutations
mutations in the SRSF2 (show SRSF2 Proteins)/ASXL1/RUNX1 (show RUNX1 Proteins) gene panel identified as significant prognostic markers in systemic mastocytosis
It was found that the absence of mutations in the SRSF2 (show SRSF2 Proteins), ASXL1, and/or RUNX1gene panel at baseline and a reduction of the KIT D816V allele burden more than 25% at month 6 are the most favorable predictors for improved survival in midostaurin-treated advanced systemic mastocytosis patients.
Mutation in ASXL1 gene is associated with chronic myelomonocytic leukemia.
ASXL1 mutation is associated with acute myeloid leukemia (show BCL11A Proteins).
We examined all ASXL1 truncating variants in the ExAC database and determined most are likely somatic. Failure to consider somatic mosaicism may lead to the inaccurate assumption that conditions like BOS have reduced penetrance, or the misclassification of potentially pathogenic variants.
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