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Results: 4

1.
Figure 1.

Figure 1. From: Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Immunostaining for SMARCB1 shows a mosaic pattern of SMARCB1 expression in a schwannoma from family 19 with a mixture of positive (brown) and negative (blue) nuclei in cells.

Miriam J. Smith, et al. Hum Mol Genet. 2012 December 15;21(24):5239-5245.
2.
Figure 4.

Figure 4. From: Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Cyclin D1 activity is appropriately suppressed by both wild-type and mutant SMARCB1 proteins. Introduction of both wild-type and mutant SMARCB1 transcripts (c.41C > A missense, c.158G > T missense or c.364G > T splice mutant) into MON cells which lack endogenous SMARCB1 leads to suppression of luciferase reporter activity under the control of the cyclin D1 promoter. Normalized to transfection efficiency by GFP fluorescence *P < 0.05.

Miriam J. Smith, et al. Hum Mol Genet. 2012 December 15;21(24):5239-5245.
3.
Figure 3.

Figure 3. From: Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

The SMARCB1 mutant 3′UTR alters mRNA stability. Relative mRNA expression levels of wild-type and mutant SMARCB1 3′untranslated regions in HEK293T cells. (A) Luciferase levels indicate the relative expression under the control of wild-type and c.*82C > T mutated SMARCB1 3′UTRs, normalized to transfection efficiency by GFP fluorescence *P < 0.01. (B) qRT–PCR of wild-type and mutant SMARCB1 3′UTR expression levels at 48 and 96 h post-transfection normalized to both GFP and GAPDH *P < 0.015; **P < 0.001.

Miriam J. Smith, et al. Hum Mol Genet. 2012 December 15;21(24):5239-5245.
4.
Figure 2.

Figure 2. From: Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Chromatograms showing SMARCB1 mutant transcripts identified in the study. (A) Exon 1 missense mutation; (B) exon 2 missense mutation found in families 9 and PA1; (C) exon 3 splice mutation that removes the first 45 bp of exon 3; (D) in-frame deletion of the entire exon 4 sequence found in families 11 and 23;(E) exon 4 splice mutation leading to the deletion of the last 111 bp of exon 4 in families PA-3, V and 23; (F) exon 6 splice mutation causing inclusion of the first 45 bp of intron 6; (G) family 19 transcript deleting exon 6, predicted to cause nonsense-mediated decay; (H) family 23 deletion of exon 7, predicted to cause nonsense-mediated decay; (I) family P/Qu mutant transcript including 145 bp of intron 5, predicted to cause nonsense-mediated decay; (J) 3′UTR change found in families 1, 3, 5 and 10.

Miriam J. Smith, et al. Hum Mol Genet. 2012 December 15;21(24):5239-5245.

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