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Items: 1 to 20 of 103

1.

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 5;173(2):443-455.e12. doi: 10.1016/j.cell.2018.02.047. Epub 2018 Mar 22.

2.

Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.

Glogowska E, Schneider ER, Maksimova Y, Schulz VP, Lezon-Geyda K, Wu J, Radhakrishnan K, Keel SB, Mahoney D, Freidmann AM, Altura RA, Gracheva EO, Bagriantsev SN, Kalfa TA, Gallagher PG.

Blood. 2017 Oct 19;130(16):1845-1856. doi: 10.1182/blood-2017-05-786004. Epub 2017 Jul 17.

3.

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. doi: 10.1038/ncomms2899. Erratum in: Nat Commun. 2013;4:2440.

4.

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. doi: 10.1111/ijlh.12172. Epub 2013 Dec 6. No abstract available.

PMID:
24314002
5.

Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.

Glogowska E, Lezon-Geyda K, Maksimova Y, Schulz VP, Gallagher PG.

Blood. 2015 Sep 10;126(11):1281-4. doi: 10.1182/blood-2015-07-657957. Epub 2015 Jul 21.

6.

Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.

Rapetti-Mauss R, Picard V, Guitton C, Ghazal K, Proulle V, Badens C, Soriani O, Garçon L, Guizouarn H.

Haematologica. 2017 Oct;102(10):e415-e418. doi: 10.3324/haematol.2017.171389. Epub 2017 Jun 15. No abstract available.

7.

Piezo1 links mechanical forces to red blood cell volume.

Cahalan SM, Lukacs V, Ranade SS, Chien S, Bandell M, Patapoutian A.

Elife. 2015 May 22;4. doi: 10.7554/eLife.07370.

8.

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. doi: 10.1016/j.bcmd.2013.07.015. Epub 2013 Aug 23. No abstract available.

PMID:
23973043
9.

Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.

Yang E, Voelkel EB, Lezon-Geyda K, Schulz VP, Gallagher PG.

Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26444. Epub 2017 Jan 25.

10.

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 30;120(9):1908-15. doi: 10.1182/blood-2012-04-422253. Epub 2012 Apr 23.

11.

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

Andolfo I, Russo R, Manna F, Shmukler BE, Gambale A, Vitiello G, De Rosa G, Brugnara C, Alper SL, Snyder LM, Iolascon A.

Am J Hematol. 2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117.

12.

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 21;6:8329. doi: 10.1038/ncomms9329.

13.

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 9;121(19):3925-35, S1-12. doi: 10.1182/blood-2013-02-482489. Epub 2013 Mar 11.

14.

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 19;110(12):E1162-8. doi: 10.1073/pnas.1219777110. Epub 2013 Mar 4.

15.

Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis).

Demolombe S, Duprat F, Honoré E, Patel A.

Biophys J. 2013 Aug 20;105(4):833-4. doi: 10.1016/j.bpj.2013.07.018. No abstract available.

16.

Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

Beneteau C, Thierry G, Blesson S, Le Vaillant C, Picard V, Béné MC, Eveillard M, Le Caignec C.

Clin Genet. 2014 Mar;85(3):293-5. doi: 10.1111/cge.12147. Epub 2013 Apr 14. No abstract available.

PMID:
23581886
17.

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. doi: 10.1007/s12185-016-1970-x. Epub 2016 Mar 14.

PMID:
26971963
18.

PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.

Andolfo I, Manna F, De Rosa G, Rosato BE, Gambale A, Tomaiuolo G, Carciati A, Marra R, De Franceschi L, Iolascon A, Russo R.

Haematologica. 2018 Mar;103(3):e94-e97. doi: 10.3324/haematol.2017.180687. Epub 2017 Nov 30. No abstract available.

19.

'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.

Fermo E, Bogdanova A, Petkova-Kirova P, Zaninoni A, Marcello AP, Makhro A, Hänggi P, Hertz L, Danielczok J, Vercellati C, Mirra N, Zanella A, Cortelezzi A, Barcellini W, Kaestner L, Bianchi P.

Sci Rep. 2017 May 11;7(1):1744. doi: 10.1038/s41598-017-01591-w.

20.

Hereditary xerocytosis revisited.

Archer NM, Shmukler BE, Andolfo I, Vandorpe DH, Gnanasambandam R, Higgins JM, Rivera A, Fleming MD, Sachs F, Gottlieb PA, Iolascon A, Brugnara C, Alper SL, Nathan DG.

Am J Hematol. 2014 Dec;89(12):1142-6. doi: 10.1002/ajh.23799. Epub 2014 Jul 21. No abstract available.

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