Longitudinal assessment of DNA methylation changes during HPVE6E7-induced immortalization of primary keratinocytes.
Amsterdam, Netherlands. In Epigenetics, 2014
In this study, cells were monitored for hypermethylation of 14 host genes (APC, CADM1, CYGB, FAM19A4, hTERT, mir124-1, mir124-2, mir124-3, MAL, PHACTR3, PRDM14, RASSF1A, ROBO3, and SFRP2) at 4 different stages during immortalization.
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
Riyadh, Saudi Arabia. In J Aapos, 2014
CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular muscles, and horizontal gaze palsy with progressive scoliosis.
Early aberrant DNA methylation events in a mouse model of acute myeloid leukemia.
Heidelberg, Germany. In Genome Med, 2013
Nine novel hypermethylated genes, FZD5, FZD8, PRDM16, ROBO3, CXCL14, BCOR, ITPKA, HES6 and TAL1, the latter four being potential PU.1 targets, were confirmed to be hypermethylated in human normal karyotype AML patients, underscoring the relevance of the mouse model for human AML.
The genetic basis of complex strabismus.
Boston, United States. In Pediatr Res, 2006
We are discovering that these disorders result from mutations in genes necessary for the normal development and connectivity of brainstem ocular motoneurons, including PHOX2A, SALL4, KIF21A, ROBO3, and HOXA1, and we now refer to these syndromes as the "congenital cranial dysinnervation disorders," or CCDD.