Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis.
Tel Aviv-Yafo, Israel. In Bmc Genomics, Dec 2015
CONCLUSIONS: Our findings provide the first high-resolution genome-wide view of chromosomal changes in hemangioblastoma and identify 23 candidate genes: EGFR, PRDM16, PTPN11, HOXD11, HOXD13, FLT3, PTCH, FGFR1, FOXP1, GPC3, HOXC13, HOXC11, MKL1, CHEK2, IRF4, GPHN, IKZF1, RB1, HOXA9, and micro RNA, such as hsa-mir-196a-2 for hemangioblastoma pathogenesis.
Genome-wide DNA methylation profiling of CpG islands in hypospadias.
San Francisco, United States. In J Urol, 2012
These CpG sites were in or near the SCARB1, MYBPH, SORBS1, LAMA4, HOXD11, MYO1D, EGFL7, C10orf41, LMAN1L and SULF1 genes.
Fusion of the NUP98 gene and the homeobox gene HOXC13 in acute myeloid leukemia with t(11;12)(p15;q13).
Lund, Sweden. In Genes Chromosomes Cancer, 2003
The NUP98 gene at 11p15 is known to be fused to DDX10, HOXA9, HOXA11, HOXA13, HOXD11, HOXD13, LEDGF, NSD1, NSD3, PMX1, RAP1GDS1, and TOP1 in various hematologic malignancies.
Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11.
Salt Lake City, United States. In Nature, 1995
mice mutant for Hoxd11 and Hoxa11 show absence of radius and ulna, anterior homeotic transformation of vertebra, and severe kidney defects, suggesting Hoxd11 and Hoxa11 act together to specify limb outgrowth and patterning of proximodistal axis