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

Autor: Rosato, Barbara Eleni, D'Onofrio, Vanessa, Marra, Roberta, Nostroso, Antonella, Esposito, Federica Maria, Iscaro, Anthony, Lasorsa, Vito Alessandro, Capasso, Mario, Iolascon, Achille, Russo, Roberta, Andolfo, Immacolata

Publikováno v: American Journal of Hematology; Jan2025, Vol. 100 Issue 1, p52-65, 14p

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P1470: IDENTIFICATION OF THE PRO20THR NOVEL VARIANT IN CDIN1 GENE ALLOWED EXPLORING THE BIOLOGICAL PROCESSES IMPAIRED IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I.

Autor: Marra, Roberta, Nostroso, Antonella, Maria Esposito, Federica, Eleni Rosato, Barbara, D’onofrio, Vanessa, D’Alterio, Giuseppe, Capasso, Mario, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta

Publikováno v: HemaSphere; 2023 Supplement 3, Vol. 7, p1-2, 2p

Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overload.

Autor: Esposito, Federica Maria^1,2 (AUTHOR), D'Onofrio, Vanessa^1,2 (AUTHOR), Rosato, Barbara Eleni^1,2 (AUTHOR), Marra, Roberta^1,2 (AUTHOR), Nostroso, Antonella^1,2 (AUTHOR), Iscaro, Anthony^1,2 (AUTHOR), Manno, Mariangela^1,2 (AUTHOR), Ribersani, Michela³ (AUTHOR), Giorgi, Virginia⁴ (AUTHOR), Celia, Renata⁴ (AUTHOR), Piscopo, Carmelo⁵ (AUTHOR), Iolascon, Achille^1,2 (AUTHOR), Russo, Roberta^1,2 (AUTHOR), Andolfo, Immacolata^1,2 (AUTHOR) immacolata.andolfo@unina.it

Publikováno v: British Journal of Haematology. Nov2024, p1. 5p. 1 Illustration.