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Additional sex combs like 1

ASXL1, Additional sex combs-like 1
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. [provided by RefSeq, Sep 2009] (from NCBI)
Top mentioned proteins: Id1, EZH2, AML1, JAK2, HAD
Papers on ASXL1
Mutations in epigenetic modifiers in acute myeloid leukemia and their clinical utility.
Tien et al., Taipei, Taiwan. In Expert Rev Hematol, Feb 2016
Somatic mutations in epigenetic modifiers, including IDH1, IDH2, TET2, DNAMT3A, ASXL1, MLL and EZH2 are enriched in patients with acute myeloid leukemia (AML), especially those with intermediate-risk cytogenetics.
Myelodysplastic syndromes: Contemporary review and how we treat.
Tefferi et al., Rochester, United States. In Am J Hematol, Jan 2016
With the advent of next generation sequencing, recurrent somatic mutations in genes involved in epigenetic regulation (TET2, ASXL1, EZH2, DNMT3A, IDH1/2), RNA splicing (SF3B1, SRSF2, U2AF1, ZRSR2), DNA damage response (TP53), transcriptional regulation (RUNX1, BCOR, ETV6) and signal transduction (CBL, NRAS, JAK2) have been identified in MDS.
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Grinberg et al., Barcelona, Spain. In Am J Med Genet A, Jan 2016
Whereas CD96 has been related to OTCS (one case) and to BOS (one case), ASXL1 has been related to BOS only (several cases).
Chronic Neutrophilic Leukemia 2016: Update on diagnosis, molecular genetics, prognosis and management.
Tefferi et al., In Am J Hematol, Jan 2016
Co-operative mutations in SETBP1 and ASXL1 appear to be of prognostic significance and correlate with disease progression.
Do somatic mutations in de novo MDS predict for response to treatment?
DeZern et al., Saint Louis, United States. In Hematology Am Soc Hematol Educ Program, Jan 2016
No abnormalities in other epigenetic regulators (DNMT3A, ASXL1), RNA splicing (SF3B1, SRSF2, URAF1, ZRSR2), transcription factors (RUNX1 or ETV6), or signaling (CBL, NRAS, KIT, JAK2, MPL) were detected.
What's different about atypical CML and chronic neutrophilic leukemia?
Tyner et al., Portland, United States. In Hematology Am Soc Hematol Educ Program, Jan 2016
These studies have revealed aCML to be a genetically more heterogeneous disease than CNL, however, several groups have reported that SETBP1 and ASXL1 mutations occur at a high frequency and carry prognostic value in both diseases.
BAP1/ASXL1 recruitment and activation for H2A deubiquitination.
Sixma et al., Amsterdam, Netherlands. In Nat Commun, Dec 2015
BAP1 is activated by ASXL1 to deubiquitinate mono-ubiquitinated H2A at K119 in Polycomb gene repression, but the mechanism of this reaction remains poorly defined.
Prognostic interaction between ASXL1 and TET2 mutations in chronic myelomonocytic leukemia.
Tefferi et al., Rochester, United States. In Blood Cancer J, Dec 2015
On a 27-gene targeted capture panel performed on 175 CMML patients (66% males, median age 70 years), common mutations included: TET2 46%, ASXL1 47%, SRSF2 45% and SETBP1 19%.
Myeloproliferative neoplasms: Current molecular biology and genetics.
Saeidi, Kermān, Iran. In Crit Rev Oncol Hematol, Dec 2015
Some other genes' location such as TET oncogene family member 2 (TET2), additional sex combs-like 1 (ASXL1), casitas B-lineage lymphoma proto-oncogene (CBL), isocitrate dehydrogenase 1/2 (IDH1/IDH2), IKAROS family zinc finger 1 (IKZF1), DNA methyltransferase 3A (DNMT3A), suppressor of cytokine signaling (SOCS), enhancer of zeste homolog 2 (EZH2), tumor protein p53 (TP53), runt-related transcription factor 1 (RUNX1) and high mobility group AT-hook 2 (HMGA2) have also identified to be involved in MPNs phenotypes.
Loss of BAP1 function leads to EZH2-dependent transformation.
Levine et al., New York City, United States. In Nat Med, Nov 2015
The tumor suppressors BAP1 and ASXL1 interact to form a polycomb deubiquitinase complex that removes monoubiquitin from histone H2A lysine 119 (H2AK119Ub).
A Pilot Study of the Telomerase Inhibitor Imetelstat for Myelofibrosis.
Pardanani et al., Rochester, United States. In N Engl J Med, Oct 2015
Response rates were 27% among patients with a JAK2 mutation versus 0% among those without a JAK2 mutation (P=0.30) and 32% among patients without an ASXL1 mutation versus 0% among those with an ASXL1 mutation (P=0.07).
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.
Ogawa et al., Tokyo, Japan. In N Engl J Med, Aug 2015
DNMT3A-mutated and ASXL1-mutated clones tended to increase in size over time; the size of BCOR- and BCORL1-mutated and PIGA-mutated clones decreased or remained stable.
Age-related clonal hematopoiesis associated with adverse outcomes.
Ebert et al., Aş Şanamayn, Syria. In N Engl J Med, 2015
The majority of the variants occurred in three genes: DNMT3A, TET2, and ASXL1.
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence.
McCarroll et al., Aş Şanamayn, Syria. In N Engl J Med, 2015
Detectable clonal expansions most frequently involved somatic mutations in three genes (DNMT3A, ASXL1, and TET2) that have previously been implicated in hematologic cancers.
Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation.
Cammenga et al., Lund, Sweden. In Leuk Res Rep, 2014
Exome sequencing revealed a somatic ASXL1 mutation and the patient underwent allogeneic stem cell transplantation successfully.
ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression.
Levine et al., New York City, United States. In Cancer Cell, 2012
ASXL1 associates with the PRC2 and loss of ASXL1 in vivo collaborates with NRASG12D to promote myeloid leukemogenesis.
Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms.
Murati et al., Marseille, France. In Genes Chromosomes Cancer, 2012
We found a high incidence of ASXL1 mutation in myelofibrosis patients (20%) and a low incidence in polycythemia vera (7%) and essential thrombocythemia (4%) patients.
Acute myeloid leukemia with myelodysplasia-related changes are characterized by a specific molecular pattern with high frequency of ASXL1 mutations.
Mozziconacci et al., Marseille, France. In Am J Hematol, 2012
genetic association studies in a French population: Data suggest that acute myeloid leukemia with myelodysplasia-related changes is associated with higher frequency of ASXL1 mutations in intergenic DNA regions.
Positive regulation of additional sex comb-like 1 gene expression by the pluripotency factor SOX2.
Um et al., Seoul, South Korea. In Biochem Biophys Res Commun, 2012
ASXL1 may be a direct target of SOX2 and may play a role in maintaining the pluripotency of stem cells.
Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
Birnbaum et al., Marseille, France. In J Hematol Oncol, 2011
A systematic determination of ASXL1 mutational status in myeloid malignancies should help in prognosis assessment.
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