Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

@article{Pippucci2011MutationsIT,
  title={Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.},
  author={T. Pippucci and A. Savoia and S. Perrotta and N. Pujol-Moix and P. Noris and G. Castegnaro and A. Pecci and C. Gnan and F. Punzo and C. Marconi and S. Gherardi and G. Loffredo and D. De Rocco and S. Scianguetta and S. Barozzi and P. Magini and V. Bozzi and L. Dezzani and M. Di Stazio and M. Ferraro and G. Perini and M. Seri and C. Balduini},
  journal={American journal of human genetics},
  year={2011},
  volume={88 1},
  pages={
          115-20
        }
}
THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that ANKRD26, another gene within the THC2 locus, and neither MASTL nor ACBD5, is mutated in eight unrelated families. ANKRD26 was also found to be mutated in the family previously reported to have an ACBD5 mutation. We identified six different ANKRD26 mutations, which were clustered in a highly conserved 19 bp sequence located in the 5… Expand
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
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5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia
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