RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.

Autor: Rosato BE; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., D'Onofrio V; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Marra R; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Nostroso A; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Esposito FM; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Iscaro A; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Lasorsa VA; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Capasso M; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Iolascon A; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Russo R; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy., Andolfo I; Department of Molecular Medicine and Medical Biotechnologies, 'Federico II' University of Naples, Naples, Italy.; CEINGE, Biotecnologie Avanzate, Franco Salvatore, Naples, Italy.

Publikováno v: American journal of hematology [Am J Hematol] 2024 Nov 18. Date of Electronic Publication: 2024 Nov 18.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

Autor: B. Allegrini, S. Jedele, L. David Nguyen, M. Mignotet, R. Rapetti-Mauss, C. Etchebest, O. Fenneteau, A. Loubat, A. Boutet, C. Thomas, J. Durin, A. Petit, C. Badens, L. Garçon, L. Da Costa, H. Guizouarn

Publikováno v: Frontiers in Physiology, Vol 13 (2022)

The K+ channel activated by the Ca2+, KCNN4, has been shown to contribute to red blood cell dehydration in the rare hereditary hemolytic anemia, the dehydrated hereditary stomatocytosis. We report two de novo mutations on KCNN4, We reported two de no

Externí odkaz: https://doaj.org/article/9f96cb3683b14fe284caf57a0a28f560

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.

Autor: Zama, Daniele¹ (AUTHOR) daniele.zama@gmail.com, Giulietti, Giulia¹ (AUTHOR), Muratore, Edoardo¹ (AUTHOR), Andolfo, Immacolata^2,3 (AUTHOR), Russo, Roberta^2,3 (AUTHOR), Iolascon, Achille^2,3 (AUTHOR), Pession, Andrea¹ (AUTHOR)

Publikováno v: Italian Journal of Pediatrics. 7/23/2020, Vol. 46 Issue 1, p1-5. 5p.