Two rare PROX1 variants in patients with lymphedema.,Molecular Genetics & Genomic Medicine

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Two rare PROX1 variants in patients with lymphedema.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-05 , DOI: 10.1002/mgg3.1424
Maurizio Ricci ₁ , Bruno Amato ₂ , Shila Barati ₃ , Rita Compagna ₄ , Dominika Veselenyiova _{3,

5} , Sercan Kenanoglu _{3,

6} , Liborio Stuppia ₇ , Tommaso Beccari ₈ , Mirko Baglivo ₃ , Danjela Kurti _{3,

9} , Juraj Krajcovic ₅ , Roberta Serrani ₁ , Munis Dundar ₆ , Syed H Basha ₁₀ , Pietro Chiurazzi _{11,

12} , Matteo Bertelli _{3,

13,

14}

Affiliation

Division of Rehabilitation Medicine, Azienda Ospedaliero-Universitaria, Ospedali Riuniti di Ancona, Italy.
Department of Clinical Medicine and Surgery, University Federico II of Naples, Naples, Italy.
MAGI Euregio, Bolzano, Italy.
Department of Public Health, University of Naples Federico II, Naples, Italy.
Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius In Trnava, Trnava, Slovakia.
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Aging and Translational Medicine Research Center (CeSI-MeT), University "G. d'Annunzio", Chieti-Pescara, Italy.
Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy.
MAGI-Balkan, Tirana, Albania.
Innovative Informatica Technologies, Telangana, India.
Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy.
Fondazione Policlinico Universitario "A.Gemelli" IRCCS, UOC Genetica Medica, Rome, Italy.
EBTNA-Lab, Rovereto, TN, Italy.
MAGI's Lab, Rovereto, TN, Italy.

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.

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