Two rare PROX1 variants in patients with lymphedema

Ricci M., Amato B., Barati S., Compagna R., Veselenyiova D., Kenanoglu S., ...Daha Fazla

MOLECULAR GENETICS & GENOMIC MEDICINE, cilt.8, sa.10, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 10
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1002/mgg3.1424
  • Dergi Adı: MOLECULAR GENETICS & GENOMIC MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, Agricultural & Environmental Science Database, EMBASE, MEDLINE, Directory of Open Access Journals
  • Anahtar Kelimeler: genetic diagnosis, lymphedema, next-generation sequencing (NGS), PROX1
  • Erciyes Üniversitesi Adresli: Evet

Özet

Background: The PROX1 gene is specifically expressed in a subpopulation of endothelial cells that, by budding and sprouting, give rise to the lymphatic system. It also plays a critical role in neurogenesis and during development of many organs, such as the eye lens, liver, and pancreas.