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CYBB, CYBA, NCF1, NCF2, and NCF4 gene mutations were analyzed using PCR amplification followed by direct sequencing.
Recently, a SNP, rs5995355, in NCF4 was found significantly associated with risk of colorectal cancer after adjustment for both potential confounders and multiple comparisons, but the change of expression was not found in either tumor or normal tissue .
These are CYBA, encoding p22phox; NCF2, encoding p67phox; NCF1, encoding p47phox; and NCF4, encoding p40phox, with the latter being the most recently described (1-6).
Familial cases of SAPHO syndrome have been described (15,16); however, genetic analyses fail to demonstrate variations in the coding regions or splice sites of genes known to cause auto-inflammatory bone disorders (e.g., Majeed syndrome, murine CRMO and cherubism), other skin inflammatory disorders (e.g., PAPA syndrome: pyogenic arthritis, pyoderma gangrenosum, and acne), and mutations in NADPH oxidase (NCF4 gene).
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