Protein ASXL1

Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

Hoischen A et al. (2011) De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Magini P et al. (2012) Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Gelsi-Boyer V et al. (2009) Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.

Carbuccia N et al. (2009) Mutations of ASXL1 gene in myeloproliferative neoplasms.

Fisher CL et al. (2003) A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11.

Chou WC et al. (2010) Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations.

Park UH et al. (2011) Additional sex comb-like (ASXL) proteins 1 and 2 play opposite roles in adipogenesis via reciprocal regulation of peroxisome proliferator-activated receptor {gamma}.

Abdel-Wahab O et al. (2013) Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo.

NCBI article

OMIM.ORG article

Orphanet article