Human DOCK1 blocking peptide

Approximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report a girl and a boy with craniosynostosis, developmental delay and other congenital anomalies. Karyotyping and molecular analysis including Multiplex Ligation dependent probe amplification (MLPA) and Array Comparative Genomic Hybridization (aCGH) were performed in both patients. We detected a 13.1Mb pure deletion at 10q26.12-q26.3 in the girl and a 10.9Mb pure deletion at 10q26.13-q26.3 in the boy, both encompassing about 100 genes. The clinical and molecular findings in these patients reinforce the importance of the DOCK1 smallest region of overlap I (SRO I), previously suggested to explain the clinical signs, and together with a review of the literature suggest a second 3.5Mb region important for the phenotype (SRO II). Genotype-phenotype correlations and literature data suggest that the craniosynostosis is not directly related to dysregulated signaling in suture development, but may be secondary to alterations in brain development instead. Further, genes at 10q26 may be involved in the molecular crosstalk between brain and cranial vault. (c) 2015 Wiley Periodicals, Inc.

The expression of 84 focal adhesion genes of multipotent mesenchymal stromal cells (MMSCs) after 96-h microgravity simulation at 3D clinorotation was studied. The upregulation of ITGA6, ITGA7, BCAR1, GRB2, CAV1, and DIAPH1 and the downregulation of ITGA11, ITGAV, ITGB1, PTEN, PTK2 (FAK), ARHGAP5, DOCK1, ROCK2, and AKT3 was found. These changes at the transcriptional level may be a cause of the reduction of the osteogenic potential of MMSCs and their ability to migration and adhesion in microgravity.