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Results: 4

1.
Figure 4

Figure 4. From: Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?.

A modeled structure for the CARD domain of ASC (residues 109–195). This homology model, based on the CARD domain structures of RAIDD and Apaf-1, describes the ASC CARD domain as a 6-helix structure adopting a Greek key fold. The mutation W171X would truncate the final two alpha-helices from the C-terminus, and these are highlighted in blue.

Matthew G. Booty, et al. Arthritis Rheum. ;60(6):1851-1861.
2.
Figure 3

Figure 3. From: Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?.

A. Western blots of granulocyte lysates from non-FMF patients with active inflammation (ID), FMF patients, and healthy controls probed with Abs to pyrin or GAPDH. B. Data analysis was done as described in Figure 2. FMF patients exhibited significantly higher levels of pyrin as determined by a Mann-Whitney U test (FMF vs. patients with active inflammation P=0.0286, FMF patients vs. controls P=0.0095). There was no significant difference in pyrin levels between patients with active inflammation and controls. Error bars indicate standard error of the mean.

Matthew G. Booty, et al. Arthritis Rheum. ;60(6):1851-1861.
3.
Figure 1

Figure 1. From: Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?.

Mean relative expression levels of MEFV (exons 9–10) comparing FMF patients with 1 MEFV mutation, patients with 2 mutations, and healthy controls. All results are relative to the mean of the healthy control group. No significant difference in expression level was observed between any of the groups. Values represent fold change and were generated using β2 microglobulin (B2M) as the endogenous control. Error bars indicate standard error of the mean.

Matthew G. Booty, et al. Arthritis Rheum. ;60(6):1851-1861.
4.
Figure 2

Figure 2. From: Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?.

A. Western blots of granulocyte lysates from FMF patients with one or two MEFV mutations and healthy controls probed with Abs to pyrin or GAPDH. B. Densitometry analysis of pyrin bands. Values represent pyrin expression relative to GAPDH in each individual and are shown as pyrin’s percentage of GAPDH (pyrin/GAPDH×100). Values are normalized to the mean pyrin expression in the healthy control group within each individual blot. Patient groups exhibited significantly higher levels of pyrin as determined by a Mann-Whitney U test (P = 0.007). There was no significant difference in pyrin levels between patients with one or two MEFV mutations. Error bars indicate standard error of the mean.

Matthew G. Booty, et al. Arthritis Rheum. ;60(6):1851-1861.

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