PCNT and familial intracranial aneurysms-Supplemental data
| العنوان: | PCNT and familial intracranial aneurysms-Supplemental data |
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| المؤلفون: | Lorenzo-Betancor, Oswaldo, Blackburn, Patrick R., Edwards, Emily, Vázquez-do-Campo, Rocío, Klee, Eric W., Labbé, Catherine, Hodges, Kyndall, Glover, Patrick, Sigafoos, Ashley N., Soto, Alexandra I., Walton, Ronald L., Doxsey, Stephen, Bober, Michael B., Jennings, Sarah, Clark, Karl J., Asmann, Yan, Miller, David, Freeman, William D., Meschia, James, Ross, Owen A. |
| سنة النشر: | 2018 |
| المجموعة: | Dryad Digital Repository (Duke University) |
| مصطلحات موضوعية: | Intracranial aneurysm, subarachnoid hemorrhage, genetics, PCNT, pericentrin |
| الوصف: | (1) Detailed clinical description of additional PCNT mutation carriers (Text). (2) Supplementary Table 1. Fifty five variants were shared between the two patients from family 7042 and absent in the healthy individuals from this family. (3) Supplementary Table 2. Family 7019. Variants present in patients III.2 and III.4 not carried by healthy individuals IV.1 and IV.2 from family 7019. (4) Supplementary Table 3. PCNT exon 38 primers. (5) Supplementary Table 4. Microsatellites primers used for the haplotype sharing analysis in families 7019 and 8159; * = sizes based on the microsatellite analysis of 80 Caucasian samples. (6) Supplementary Table 5. Demographic data of the samples used to estimate the allele frequency of customized PCNT microsatellite. (7) Supplementary Table 6. Mean read depth (coverage) for the entire PCNT gene and for exon 38 for each individual with Whole Exome Sequencing data. (8) Supplementary Table 7. Sixty three variants were shared between the two patients from family 7042 and present also in the healthy individuals from this family. (9) Supplementary Table 8. Sixty three variants were shared between the two patients from family 7019 and present also in the healthy individuals from this family. (10) Supplementary Table 9. Family 7099 PCNT variants with MAF <1%. (11) Supplementary Figure 1. Patient 7019 III.2 CTA. (12) Supplementary Figure 2. Patient 7042 II.1 radiologic studies. (13) Supplementary Figure 3. Patient 7099 II.2 radiologic studies. (14) Supplementary Figure 4. Patient 8080 II.2 radiologic studies. (15) Supplementary Figure 5. Patient 8091 III.1 radiologic studies. (16) Supplementary Figure 6. Patient 8159 III.3 CTA. (17) Supplementary Figure 7. Haplotype reconstruction for families 7019 and 8159 sharing mutation p.Val2821Leu. (18) Supplementary Figure 8. Coding isoforms and processed transcripts of PCNT gene. (19) Supplementary Figure 9. Phylogenetic tree depicting evolutionary relationship of PCNT gene across species. (20) Supplementary Figure 10. A. PCNT gene conservation. |
| نوع الوثيقة: | dataset |
| اللغة: | unknown |
| العلاقة: | http://hdl.handle.net/10255/dryad.187246Test |
| DOI: | 10.5061/dryad.8br9852/1 |
| الإتاحة: | https://doi.org/10.5061/dryad.8br9852/1Test https://doi.org/10.5061/dryad.8br9852Test http://hdl.handle.net/10255/dryad.187246Test |
| حقوق: | http://creativecommons.org/publicdomain/zero/1.0Test/ |
| رقم الانضمام: | edsbas.A955021E |
| قاعدة البيانات: | BASE |
| DOI: | 10.5061/dryad.8br9852/1 |
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