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PAX6Paired Box Gene 6
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Comparison of PAX6 and PAX8 as immunohistochemical markers for pancreatic neuroendocrine tumors.
2 XL Aniridia AN2 PAX6 11p13 AD CSNB CSNB1 NYX Xp11.
The biggest link was in the region where the PAX6 gene resides, leading scientists to suspect the gene plays a significant role in short sightedness.
However, there are few reported cases with no identified mutation of PAX6.
Classic aniridia presents a mendelian inheritance pattern and is an autosomal dominant disease, which happens due to a loss of function of one of the copies of PAX6 gene.
The 1,802 transcripts up-regulated in NC cells compared to hESC (1,332 transcripts up-regulated in NC cells only in addition to 470 transcripts that up-regulated in both NC cells and NEP cells) included classical NC markers such as snail homolog 2 (Drosophila) (SNAI2; 154-fold), SOX9 (10-fold), and AP2 (TFAP2A; 8-fold], whereas the transcripts up-regulated in NEP cells comprised expected genes such as PAX6 (117-fold) and forkhead box G1 (FOXG1; 16-fold).
We didn't think PAX6 would be involved in myopia," says Hammond.
The immunoreactivity to PAX8 has been proven a consistent staining artifact by the cross-reaction between the anti-PAX8 antibody and PAX6 antigen.
5) ARS is a genetically heterogeneous group of abnormalities as a result of mutations in at least four different genetic loci, mutations in PITX2 on ch4q25, FOXC1 on 6p25, PAX6 on 11p13 and FOXO1A on 13q14 have been associated with ARS.
PAX6 geni okuler gelisimde farkli zamanlarda ve farkli dozlarda hem epitelyal, hem de mezankimal hucreleri etkiler.
46) Approximately 50% to 60% of pancreatic NETs and a small percentage of duodenal and rectal NETs were positive for PAX8, which proved to be a consistent staining artifact by the cross-reaction between polyclonal anti-PAX8 antibody and PAX6.
Hemen daima 11p13 bolgesinde yer alan bir homeobox transkripsiyon faktoru olan PAX6 mutasyonlariyla iliskilidir, yuksek penetrans ve degisken ekspresyon gosteren otozomal dominant kalitim patemi gosterir.