Fermt1 Case Study

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Fermt1 has been studied widely with the focus on its function in keratinocytes. Herz et al., in
2006 shown FERMT1 protein expressed in epidermal keratinocytes which are close to the basement membrane. Also, this study revealed that due to FERMT1 deficiency in skin cells, the proliferation of keratinocytes is significantly reduced, and cells undergo apoptosis. Also, in vitro experiments confirmed Fermt1 deficiency in keratinocytes causes the same results as seen in the skin (Herz et al., 2006). Kindler syndrome is a rare autosomal recessive genodermatosis in humans which is caused by a mutation in Fermt1. Fragile and blistering skin are the main characteristics of this syndrome (Has et al., 2011). Although, in some databases, Fermt1
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Transfer of alpha-tocopherol (most common form of Vitamin E), between different cellular compartments, need the presence of PLTP (Kostner et al., 1995). Reviewing previous studies on Pltp shows that no role has been reported for this gene in any developmental processes. Therefore, the present study suggests, the absence of TP63 in TP63-null mice decreased the expression of Pltp in dental epithelium and probably perturb the epithelial-mesenchymal signaling at early stages of tooth development which results in the failure of tooth formation in mutated mice.
Cbln1 is significantly known for its role in early stages of brain development (Miura et al. 2006). Deans et al., in 2010 reported that during inner ear formation Cbln1 interacts with Otolin. The important point about CBLN1 protein is, it helps signaling in the brain (Hirai et al., 2005), and modulates endocrine secretion (Rucinski et al., 2009). Later Gyurján et al. in 2011 showed that during early stages of limb development in mouse Cbln1 expressed only at E11.5, but for normal limb formation this gene should rapidly down-regulated. An interesting point regarding wild type and TP63-null mouse is overall development of central nervous system is normal and mutation of both TP63 alleles don’t affect nervous tissues (Holembowski et al., 2011), also my ISH showed that the expression of Cbln1 in cerebellum is similar in both normal and TP63-null mice in early stages of tooth development
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