Display Settings:

Items per page
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 8

1.
Figure 1

Figure 1. From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

The brain MRI of patient A1. Axial (A) and coronal (B) MRI images of the brain of patient A1 demonstrate moderate central and cortical atrophy.

Tuomas Komulainen, et al. BMC Neurol. 2010;10:29-29.
2.
Figure 2

Figure 2. From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Pedigree of family A. Fully shaded squares (men) and circles (women) denote homozygous c.2447G>A (p.R722H) mutations in the POLG1 gene and half-shaded symbols heterozygosity.

Tuomas Komulainen, et al. BMC Neurol. 2010;10:29-29.
3.
Figure 4

Figure 4. From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Southern blot analysis of muscle DNA from patient A1. Lane 1, Biotin-labeled Lambda DNA/EcoR1 + HindIII ladder; lane 2, control muscle DNA, age 80 years; lane 3, control muscle DNA, age 89 years; lane 4, patient A1.

Tuomas Komulainen, et al. BMC Neurol. 2010;10:29-29.
4.
Figure 8

Figure 8. From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Cartoon of a tentative structure of a segment of the spacer region of human pol γA. Stereo views of the region from residue #700 to #770 of the normal (red/gray) and p.R722H/p.W748S double mutant (blue) protein is shown. The structure was predicted with homology modeling by using 1kln.pdb as a template. p.R722 (red), p.W748 (red), p.H722 (blue) and p.S748 (blue) are highlighted.

Tuomas Komulainen, et al. BMC Neurol. 2010;10:29-29.
5.
Figure 7

Figure 7. From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Sequence alignment of part of the spacer regions of DNA polymerase γA. The mutation sites p.R722H and p.W748S are marked with arrowheads. The sequences (and accession numbers) are: human [RefSeq:NP_001119603.1], Pan troglodytes [RefSeq:XP_523149.2], Canis familaris [RefSeq:XP_545850.2], Rattus Norwegicus [RefSeq:NP_445980.1], Mus musculus [GenBank:AAA98977.1], Gallus gallus [GenBank:AAC60018.1], Danio rerio [RefSeq:XP_001921130.1] Drosophila melanogaster [GenBank:AAF53338.1].

Tuomas Komulainen, et al. BMC Neurol. 2010;10:29-29.
6.
Figure 3

Figure 3. From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Long PCR of muscle DNA from patient A1 with POLG1 p.R722H mutation. Lane 1, 1 kb ladder; lane 2, control muscle DNA, age 80 years; lane 3, control muscle DNA, age 89 years; lane 4, control muscle DNA, age 86 years; lane 5, control muscle DNA, age 75 years; lane 6, muscle DNA from patient A1, showing multiple mtDNA deletions; lane 7, λ mix ladder.

Tuomas Komulainen, et al. BMC Neurol. 2010;10:29-29.
7.
Figure 5

Figure 5. From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Detection of the c.2447G>A (p.R722H) mutation in the POLG1 gene. POLG1 p.R722H mutation was detected from blood samples by restriction fragment analysis using the MlsI (BalII) enzyme. The 183 bp fragment is visible in the case of the c.2447G>A (p.R722H) allele and the 221 bp fragment in the case of the wild-type allele. Lane 1, 100 bp ladder; lane 2, Patient A1; lane 3, Patient A2; lane 4, Patient A3; lane 5, Patient B1; lane 6, Patient B2; lane 7, Mother of patients B1 and B2.

Tuomas Komulainen, et al. BMC Neurol. 2010;10:29-29.
8.
Figure 6

Figure 6. From: POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Detection of the c.2243G>C (p.W748S) mutation in the POLG1 gene. POLG1 p.W748S mutation was detected from blood and buccal smear samples by LNA-primers. Lanes 2-9 were obtained with the Polg14F/C primer, showing one 140 bp band in the case of the mutation, and lanes 10-17 with the Polg14F/G primer, showing a 140 bp band in the case of the wild-type. Lane 1, 100 bp ladder; lane 2, wild-type control; lane 3, positive mutation control; lane 4, heterozygous p.W748S control sample; lane 5, blood sample from patient B1; lane 6, buccal smear sample from B1; lane 7, mother; lane 8, patient B2; lane 9, H2O; lane 10, wild-type control; lane 11, positive mutation control; lane 12, heterozygous p.W748S control sample; lane 13, blood sample from patient B1; lane 14, buccal smear sample from patient B1; lane 15, mother; lane 16, patient B2; lane 17, H2O; lane 18, 100 bp ladder.

Tuomas Komulainen, et al. BMC Neurol. 2010;10:29-29.

Display Settings:

Items per page

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Write to the Help Desk