Two rare PROX1 variants in patients with lymphedema

Ricci, Maurizio; Amato, Bruno; Barati, Shila; Compagna, Rita; Veselenyiova, Dominika; Kenanoglu, Sercan; Stuppia, Liborio; Beccari, Tommaso; Baglivo, Mirko; Kurti, Danjela; Krajcovic, Juraj; Serrani, Roberta; DÜNDAR, MUNİS; Basha, Syed; Chiurazzi, Pietro; Bertelli, Matteo

doi:10.1002/mgg3.1424

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)

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.