Stefan A. Haas

TL;DR: A novel missense mutation is reported in ARHGEF9 that affects one of the two paired arginine residues in the PH domain that were predicted to be vital for binding phosphoinositides, which suggests that the p.R356Q substitution influences PI3P binding by altering the range of structural conformations adopted by collybistin.

TL;DR: It is suggested that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X‐linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12.

TL;DR: This is the first large-scale functional study of regulatory sequences to use a high-throughput transfected-cell array technique and provides experimental evidence of promoter activity, which may aid in understanding the regulation of gene expression.

TL;DR: This work virally expressed tagged versions of limb-expressed posterior Hox genes in primary mesenchymal limb progenitor cells (micromass) to determine the effect of each HOX-TF on cellular differentiation and gene expression and found that groups of HOx-TFs induce distinct regulatory programs.