Affiliation: University of Michigan
Country: USA


  1. request reprint
    Innis J, Goodman F, Bacchelli C, Williams T, Mortlock D, Sateesh P, et al. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat. 2002;19:573-4 pubmed
    ..The missense mutation, which alters a key residue in the recognition helix of the homeodomain, is likely to perturb HOXA13's DNA-binding properties, resulting in both a loss and a specific gain of function. ..
  2. request reprint
    Innis J, Mortlock D, Chen Z, Ludwig M, Williams M, Williams T, et al. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Hum Mol Genet. 2004;13:2841-51 pubmed
    ..In vitro translation efficiency of the HOXA13(ALA28) protein was normal. Thus, loss of function is secondary to a reduction in the in vivo abundance of the expanded protein likely due to degradation. ..
  3. request reprint
    Innis J, Hedera P. Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. Am J Med Genet A. 2004;131:77-81 pubmed