- 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. ..
- 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. ..
- 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....