Gene expression profiling of AOS Patient fibroblasts against Control fibroblasts
Ontology highlight
ABSTRACT: We described a striking divergence between the phenotypes arising from acute (siDOCK6) and chronic (DOCK6 KO cells) depletion is highly suggestive of a suppression mechanism that buffers the prolonged absence of DOCK6. This mechanism is probably also active in AOS patients who harbor homozygous loss-of-function mutations in DOCK6 because the actin organization patterns in their fibroblasts resemble those of DOCK6 KO cells (Shaheen et al., 2011). To identify the factor(s) that compensate for the lack of DOCK6 activity, we compared mRNA profiles of fibroblasts isolated from an AOS patient who harbored a homozygous 4 base pair deletion in the DOCK6 gene (c.1362_1365delAACT, p.Thr455Serfs*24; RefSeq accession number: NM_020812.2) with two healthy controls (Shaheen et al., 2011)
ORGANISM(S): Homo sapiens
SUBMITTER: Elmar Schiebel
PROVIDER: E-MTAB-5067 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
ACCESS DATA