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PAX6Paired Box Gene 6
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References in periodicals archive ?
Sea urchin tube feet are photosensory organs that express a rhabdomeric-like opsin and PAX6. Proc.
For inherited eye disease, these mutations are thought to contribute to 30-40% of cases; this is certainly true of choroideremia, an X-linked progressive chorioretinal atrophy caused by mutations in the CHM gene (see Figure 2), and aniridia caused by mutations in the PAX6 gene.
We also analyzed various mutations in genes that were shown to be linked to the ocular anomaly of Peters' syndrome or involved in eye development (PAX6, PITX2, PITX3, CYP1B1, FKHL7), and no mutations were observed in these genes either.
De igual manera, algunos de los sets geneticos, como el Pax6 y el Nr2e1 o Tlx, pueden controlar la proliferacion de las celulas progenitoras de la ZV durante el establecimiento y la expansion de la ZSV.
PAX6 gene associated with high myopia: a meta-analysis.
Brown, "Pax6 regulation of Math5 during mouse retinal neurogenesis," Genesis, vol.
Congenital cataract 82 eyes No associated findings 56 Microcornea 12 Persistent fetal vasculature (PFV) 3 PFV and microphthalmia 1 PFV, microphthalmia, and posterior 1 synechiae Lentiglobus and lenticonus 2 Flat anterior chamber, protruding 1 iris, and posterior synechiae Abnormal greyish anterior sclera 2 Complex anterior segment dysgenesis 2 Aniridia (PAX6 mutation) 2 Juvenile cataract 12 eyes Marden-Walker syndrome 2 Muscular dystrophy 2 Post laser coagulation for ROP 3 Juvenile rheumatic arthritis associated O with chronic anterior uveitis 2 Posttraumatic cataract 2 Posttraumatic cataract and anterior 1 lens capsule perforation 1 Table 2: Ocular anomalies and systemic diagnosis of the affected patients (20/63) with cataract are listed.
It is well known that persistence of NPCs among differentiating cortical neurons, as demonstrated by immunofluorescence (NESTIN expression) and qRT-PCR (PAX6 transcript levels), complicates long-term cultivation of hPSC-derived cortical neurons.
The following markers were used to determine differentiation efficiency: brachyury (R&D Systems) for mesoendoderm, Nkx2.5 (Abcam) for cardiac mesoderm, Nkx2.5 and Isl1 (Developmental Studies Hybridoma Bank) for cardiac progenitors, cTnT (Thermo Fisher Scientific) for cardiomyocytes, double staining of FOXA2 (GeneTex) and SOX17 (GeneTex) for endoderm, CDX2 (GeneTex) for mid/hindgut, Otx2 (R&D Systems) for day 5 neural induction, and PAX6 (GeneTex) for neuroepithelium [17-20].
Comparison of PAX6 and PAX8 as immunohistochemical markers for pancreatic neuroendocrine tumors.
methylation of PAX6 frequently occurs in HCV-associated HCC tissues (61.3%) compared to HBV positive (22.1%) and double negative HCC tissues (33.3%) [29].
We performed sequencing analysis of the coding exons and adjacent intron regions of the WFS1 gene and of the B3GALTL, CYP1B1, PITX2, and PAX6 genes associated with PS.