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One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene.
Haematologica. 2023 Oct 1;108(10):2872-2876. doi: 10.3324/haematol.2022.282457.
Haematologica. 2023.
PMID: 37102609
Free PMC article.
No abstract available.
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.
Marra R, Nostroso A, Rosato BE, Esposito FM, D'Onofrio V, Iscaro A, Gambale A, Bruschi B, Coccia P, Poloni A, Unal S, Romano A, Iolascon A, Andolfo I, Russo R.
Marra R, et al. Among authors: nostroso a.
Am J Hematol. 2024 Aug;99(8):1511-1522. doi: 10.1002/ajh.27350. Epub 2024 Apr 26.
Am J Hematol. 2024.
PMID: 38666530
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RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.
Rosato BE, D'Onofrio V, Marra R, Nostroso A, Esposito FM, Iscaro A, Lasorsa VA, Capasso M, Iolascon A, Russo R, Andolfo I.
Rosato BE, et al. Among authors: nostroso a.
Am J Hematol. 2025 Jan;100(1):52-65. doi: 10.1002/ajh.27523. Epub 2024 Nov 18.
Am J Hematol. 2025.
PMID: 39558179
Free PMC article.
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Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overload.
Esposito FM, D'Onofrio V, Rosato BE, Marra R, Nostroso A, Iscaro A, Manno M, Ribersani M, Giorgi V, Celia R, Piscopo C, Iolascon A, Russo R, Andolfo I.
Esposito FM, et al. Among authors: nostroso a.
Br J Haematol. 2025 Jan;206(1):337-341. doi: 10.1111/bjh.19886. Epub 2024 Nov 6.
Br J Haematol. 2025.
PMID: 39506503
No abstract available.
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