التفاصيل البيبلوغرافية
| العنوان: |
TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema |
| المؤلفون: |
Sandro Michelini, Maurizio Ricci, Dominika Veselenyiova, Sercan Kenanoglu, Danjela Kurti, Mirko Baglivo, Alessandro Fiorentino, Syed Hussain Basha, Sasi Priya, Roberta Serrani, Juraj Krajcovic, Munis Dundar, Astrit Dautaj, Matteo Bertelli |
| المصدر: |
International Journal of Molecular Sciences; Volume 21; Issue 18; Pages: 6780 |
| بيانات النشر: |
Multidisciplinary Digital Publishing Institute |
| سنة النشر: |
2020 |
| المجموعة: |
MDPI Open Access Publishing |
| مصطلحات موضوعية: |
TIE1, NGS, lymphedema, genetic diagnostics |
| جغرافية الموضوع: |
agris |
| الوصف: |
TIE1 is a cell surface protein expressed in endothelial cells. Involved in angiogenesis and lymphangiogenesis, including morphogenesis of lymphatic valves, TIE1 is important for lymphatic system functional integrity. The main purpose of this study was to identify different variants in the TIE1 gene that could be associated with lymphatic malformations or dysfunction and predisposition for lymphedema. In a cohort of 235 Italian lymphedema patients, who tested negative for variants in known lymphedema genes, we performed a further test for new candidate genes, including TIE1. Three probands carried different variants in TIE1. Two of these segregated with lymphedema or lymphatic dysfunction in familial cases. Variants in TIE1 could contribute to the onset of lymphedema. On the basis of our findings, we propose TIE1 as a candidate gene for comprehensive genetic testing of lymphedema. |
| نوع الوثيقة: |
text |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| Relation: |
Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21186780 |
| DOI: |
10.3390/ijms21186780 |
| الاتاحة: |
https://doi.org/10.3390/ijms21186780 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: |
edsbas.1D6446E8 |
| قاعدة البيانات: |
BASE |