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2. Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway. Andolfo I; Rosato BE; Manna F; De Rosa G; Marra R; Gambale A; Girelli D; Russo R; Iolascon A Am J Hematol; 2020 Feb; 95(2):188-197. PubMed ID: 31737919 [TBL] [Abstract][Full Text] [Related]
3. A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature. Zama D; Giulietti G; Muratore E; Andolfo I; Russo R; Iolascon A; Pession A Ital J Pediatr; 2020 Jul; 46(1):102. PubMed ID: 32703298 [TBL] [Abstract][Full Text] [Related]
4. Mild erythrocytosis as a presenting manifestation of Knight T; Zaidi AU; Wu S; Gadgeel M; Buck S; Ravindranath Y Pediatr Hematol Oncol; 2019 Aug; 36(5):317-326. PubMed ID: 31298594 [TBL] [Abstract][Full Text] [Related]
6. Clinical and biological features in Picard V; Guitton C; Thuret I; Rose C; Bendelac L; Ghazal K; Aguilar-Martinez P; Badens C; Barro C; Bénéteau C; Berger C; Cathébras P; Deconinck E; Delaunay J; Durand JM; Firah N; Galactéros F; Godeau B; Jaïs X; de Jaureguiberry JP; Le Stradic C; Lifermann F; Maffre R; Morin G; Perrin J; Proulle V; Ruivard M; Toutain F; Lahary A; Garçon L Haematologica; 2019 Aug; 104(8):1554-1564. PubMed ID: 30655378 [TBL] [Abstract][Full Text] [Related]
7. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. Albuisson J; Murthy SE; Bandell M; Coste B; Louis-Dit-Picard H; Mathur J; Fénéant-Thibault M; Tertian G; de Jaureguiberry JP; Syfuss PY; Cahalan S; Garçon L; Toutain F; Simon Rohrlich P; Delaunay J; Picard V; Jeunemaitre X; Patapoutian A Nat Commun; 2013; 4():1884. PubMed ID: 23695678 [TBL] [Abstract][Full Text] [Related]
8. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia. Lukacs V; Mathur J; Mao R; Bayrak-Toydemir P; Procter M; Cahalan SM; Kim HJ; Bandell M; Longo N; Day RW; Stevenson DA; Patapoutian A; Krock BL Nat Commun; 2015 Sep; 6():8329. PubMed ID: 26387913 [TBL] [Abstract][Full Text] [Related]
9. Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India. More TA; Dongerdiye R; Devendra R; Warang PP; Kedar PS Ann Hematol; 2020 Apr; 99(4):715-727. PubMed ID: 32112123 [TBL] [Abstract][Full Text] [Related]
10. A Gardos channelopathy associated with nonimmune hydrops and fetal loss. Ghesh L; Besnard T; Joubert M; Picard V; Le Vaillant C; Beneteau C Clin Genet; 2022 Dec; 102(6):543-547. PubMed ID: 36031591 [TBL] [Abstract][Full Text] [Related]
11. Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes? Martin-Almedina S; Mansour S; Ostergaard P J Physiol; 2018 Mar; 596(6):985-992. PubMed ID: 29331020 [TBL] [Abstract][Full Text] [Related]
12. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Andolfo I; Alper SL; De Franceschi L; Auriemma C; Russo R; De Falco L; Vallefuoco F; Esposito MR; Vandorpe DH; Shmukler BE; Narayan R; Montanaro D; D'Armiento M; Vetro A; Limongelli I; Zuffardi O; Glader BE; Schrier SL; Brugnara C; Stewart GW; Delaunay J; Iolascon A Blood; 2013 May; 121(19):3925-35, S1-12. PubMed ID: 23479567 [TBL] [Abstract][Full Text] [Related]
14. Hereditary xerocytosis and familial haemolysis due to mutation in the PIEZO1 gene: a simple diagnostic approach. Sandberg MB; Nybo M; Birgens H; Frederiksen H Int J Lab Hematol; 2014 Aug; 36(4):e62-5. PubMed ID: 24314002 [No Abstract] [Full Text] [Related]
15. PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. Imashuku S; Muramatsu H; Sugihara T; Okuno Y; Wang X; Yoshida K; Kato A; Kato K; Tatsumi Y; Hattori A; Kita S; Oe K; Sueyoshi A; Usui T; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Ogawa S; Kojima S; Kanno H Int J Hematol; 2016 Jul; 104(1):125-9. PubMed ID: 26971963 [TBL] [Abstract][Full Text] [Related]
17. Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report. Shmukler BE; Vandorpe DH; Rivera A; Auerbach M; Brugnara C; Alper SL Blood Cells Mol Dis; 2014 Jan; 52(1):53-4. PubMed ID: 23973043 [No Abstract] [Full Text] [Related]
18. Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1. Bae C; Gnanasambandam R; Nicolai C; Sachs F; Gottlieb PA Proc Natl Acad Sci U S A; 2013 Mar; 110(12):E1162-8. PubMed ID: 23487776 [TBL] [Abstract][Full Text] [Related]
19. Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection. Ma S; Cahalan S; LaMonte G; Grubaugh ND; Zeng W; Murthy SE; Paytas E; Gamini R; Lukacs V; Whitwam T; Loud M; Lohia R; Berry L; Khan SM; Janse CJ; Bandell M; Schmedt C; Wengelnik K; Su AI; Honore E; Winzeler EA; Andersen KG; Patapoutian A Cell; 2018 Apr; 173(2):443-455.e12. PubMed ID: 29576450 [TBL] [Abstract][Full Text] [Related]
20. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Zarychanski R; Schulz VP; Houston BL; Maksimova Y; Houston DS; Smith B; Rinehart J; Gallagher PG Blood; 2012 Aug; 120(9):1908-15. PubMed ID: 22529292 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]