Jenni Lahtela.

This finding suggested that the severe phenotype is the effect of a truncating mutation in the CHUK gene that results in the complete loss of CHUK protein expression. Expression Data and Pathway Analysis To investigate the consequences of the increased loss of CHUK in the affected fetuses, we analyzed the genomewide expression arrays with the WebGestalt program additional. Table 2 in the Supplementary Appendix shows differentially expressed genes in some of the enriched Gene Ontology categories. One particular gene encodes matrix metallopeptidase 14 , a protein essential for skeletal advancement12 and the forming of arteries.13 We assayed MMP-14 protein in fetal fibroblasts by means of Western blotting and observed that MMP-14 was expressed at the proteins level in the affected fetuses however, not in age-matched control fetuses . Continue reading