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Table 1.

Patient’s characteristics.

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Table 2.

Primers sequence used for the real time PCR assay.

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Table 2 Expand

Fig 1.

Analysis of the mRNA expression levels in blood samples of controls and patients.

(A) Comparing the MDM2 mRNA levels between 17 controls and 17 patients showed a significant difference between the groups. (B) Comparing the p53 mRNA levels as in (A) showed a significant difference between the groups. (C) Comparing the MDMX mRNA levels as in (A), no statistically significant difference between the two groups. (D) Comparing the RB mRNA levels as in (A) showed significant difference between the control and patient groups. (p = *<0.05; **<0.01; ***<0.001).

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Fig 1 Expand

Fig 2.

Analysis of the mRNA expression levels in blood samples of controls and patients´ healthy family members.

(A) Comparing the MDM2 mRNA levels between 20 heathy family members and 10 controls showed no significant difference between the groups. (B) Comparing the p53 mRNA levels as in (A) showed a significant difference between the two groups. (C) Comparing the MDMX mRNA levels as in (A) showed no significant difference between the groups. (D) Comparing the RB mRNA levels as in (A) showed no significant differences between the groups. (p = *<0.05; **<0.01; ***<0.001).

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Fig 2 Expand

Table 3.

Correlations between patients´ characteristics and p53, MDMX, MDM2 and RB gene expression.

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Table 3 Expand

Fig 3.

Schematic representation of RB and p53 pathway in the development of retinoblastoma.

(A) In a healthy scenario of cellular conditions RB binds the transduction factor E2F1 to arrest the cell cycle. (B) Loss of RB could induce cell proliferation, however, the presence of p53 tumour suppressor will induce apoptosis of damaged cells, avoiding tumour development. (C) The loss of RB and the dysregulation of p53 pathway due to MDMX or MDM2 will promote cell proliferation and tumour development.

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Fig 3 Expand