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Items: 1 to 20 of 107

1.

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.

2.

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
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.

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.

5.

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
6.

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.

7.

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
8.

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.

9.

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.

10.

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
11.

Piezo1: properties of a cation selective mechanical channel.

Gottlieb PA, Sachs F.

Channels (Austin). 2012 Jul-Aug;6(4):214-9. doi: 10.4161/chan.21050. Epub 2012 Jul 1. Review.

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

13.

Dehydrated hereditary stomatocytosis masquerading as MDS.

Paessler M, Hartung H.

Blood. 2015 Mar 12;125(11):1841. No abstract available.

14.

Human PIEZO1: removing inactivation.

Bae C, Gottlieb PA, Sachs F.

Biophys J. 2013 Aug 20;105(4):880-6. doi: 10.1016/j.bpj.2013.07.019.

15.

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.

Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085.

16.

Hereditary xerocytosis, a misleading anemia.

Del Orbe Barreto R, Arrizabalaga B, De la Hoz Rastrollo AB, García-Orad A, Gonzalez Vallejo I, Bento C, Villegas A, García-Ruiz JC.

Ann Hematol. 2016 Sep;95(9):1545-6. doi: 10.1007/s00277-016-2716-9. Epub 2016 Jun 1. No abstract available.

PMID:
27250707
17.

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.

18.

A genetic syndrome associating dehydrated hereditary stomatocytosis, pseudohyperkalaemia and perinatal oedema.

Grootenboer S, Schischmanoff PO, Cynober T, Rodrigue JC, Delaunay J, Tchernia G, Dommergues JP.

Br J Haematol. 1998 Nov;103(2):383-6.

PMID:
9827909
19.

Nonimmune hydrops fetalis due to congenital xerocytosis.

Vicente-Gutiérrez MP, Castelló-Almazán I, Salvía-Roiges MD, Rodríguez-Miguélez JM, Vives-Corrons JL, Figueras-Aloy J, Carbonell-Estrany X.

J Perinatol. 2005 Jan;25(1):63-5.

PMID:
15608620
20.

Hereditary dehydrated and overhydrated stomatocytosis: recent advances.

Delaunay J, Stewart G, Iolascon A.

Curr Opin Hematol. 1999 Mar;6(2):110-4. Review.

PMID:
10088641

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