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Results: 4

1.
Figure 1

Figure 1. From: 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

A. Family segregation study for family 2. The pedigree for family 2 is shown. The c.-127C > T mutation was shown to segregate among affected individuals in this family, where 5 clinically affected family members were available for the family segregation study. 1B. Family segregation study for family 4. The pedigree for family 4 is shown. Three family members were sequenced. Two unaffected family members were shown to be negative for the mutation. 1C. Family segregation study for family 6. The pedigree for family 6 is shown. 3 family members were available from family 6. All 3 carried the -127C > T mutation.

Kristy Damjanovich, et al. Orphanet J Rare Dis. 2011;6:85-85.
2.
Figure 3

Figure 3. From: 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

Schematic representation of wild type and mutant versions of endoglin. The 5'UTR, the 3'UTR and the region corresponding to the ORF are indicated (top). The sequence of wild type (WT) and mutants (c.-127C > T; c.-9G > A; c.-9G > A and +1A > G) corresponding only to the -162/+15 region is shown. Asterisks indicate the positions of the HHT mutations of Figs. 2a and 2b. The constitutive translation initiation (+1), the predicted translated amino acids (three letters code in green) as well as the putative translation initiation sites (brown broken arrow) are also indicated.

Kristy Damjanovich, et al. Orphanet J Rare Dis. 2011;6:85-85.
3.
Figure 2

Figure 2. From: 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

A. Sequencing results from one individual with the c.-127C > T heterozygous mutation. The forward sequence is shown. The arrow indicates the position of the mutation. 2B. Sequencing results from two individuals (one homozygous and one heterozygous) for the -9G > A mutation. The arrow indicates the position of the mutation. 2C. Schematic representation of endoglin mRNA. The 5'UTR, the 3'UTR and the open reading frame (ORF) are indicated. Endoglin cDNA accession number (X72012) corresponding to the 3073-bp mRNA of endoglin [21] and the gene ID (GI, 402206) are also included. The sequence of the 5'UTR and part of the signal peptide (-282/+15) is shown. Asterisks indicate the positions mutated in panels 2a and 2b.

Kristy Damjanovich, et al. Orphanet J Rare Dis. 2011;6:85-85.
4.
Figure 4

Figure 4. From: 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.

Functional analysis of ATG endoglin mutants. COS-7 cells were transfected with wild type (WT) or endoglin mutants 4A: c.-9G > A (-9), c.-9G > A & c.+1A > G (-9&+1) or c.-127C > T (-127), and 4B: c.-205A > C (-205) in the presence of HA-437/586-Endo in pDisplay (HA-437.E) to correct for transfection efficiency. After 24 h, cells were lysed and total cell lysates were subjected to western blot analysis using anti-endoglin, anti-HA or anti-actin antibodies. As a loading control, the presence of actin is included. Normalized endoglin levels relative to cotransfected HA-437/586-Endo and total actin proteins are shown in the histogram. An arbitrary value of 100 was assigned to WT endoglin. The average of six different experiments is shown in each panel.

Kristy Damjanovich, et al. Orphanet J Rare Dis. 2011;6:85-85.

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