Erratum: Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels (Nature Communications (2013) 4 (1884) DOI: 10.1038/ncomms2899);Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Nature Communications

Volumn 4, Issue , 2013, Pages

  Albuisson, Juliette ^a,b,c   Murthy, Swetha E ^d   Bandell, Michael ^e   Coste, Bertrand ^d,m   Louis Dit Picard, Hélène ^a,b   Mathur, Jayanti ^e   Fénéant Thibault, Madeleine ^f   Tertian, Gérard ^f,g   De Jaureguiberry, Jean Pierre ^h   Syfuss, Pierre Yves ⁱ   Cahalan, Stuart ^d   Garçon, Loic ^j   Toutain, Fabienne ^k   Simon Rohrlich, Pierre ^l   Delaunay, Jean ^f   Picard, Véronique ^f,g   Jeunemaitre, Xavier ^a,b,c   Patapoutian, Ardem ^d,e  

^a PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^d SCRIPPS RESEARCH INSTITUTE   (United States)

^e GENOMICS INSTITUTE OF THE NOVARTIS RESEARCH FOUNDATION   (United States)

^f BICÊTRE HOSPITAL   (France)

^g UNIVERSITÉ PARIS SACLAY   (France)

^h Military Teaching Hospital Sainte Anne   (France)

ⁱ CENTRE HOSPITALIER DE TROYES   (France)

^j HÔPITAL SAINT ANTOINE   (France)

^k UNIVERSITÉ DE RENNES 1   (France)

^l UNIVERSITY HOSPITAL JEAN MINJOZ   (France)

^m University of Mediterranée   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; ION CHANNEL; PIEZO1 PROTEIN; UNCLASSIFIED DRUG;

BLOOD; CATION; GENE; ION; MEMBRANE; MUTATION; PATHOLOGY; PHYSIOLOGY;

ADOLESCENT; ADULT; AGED; ARTICLE; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; DEHYDRATED HEREDITARY STOMATOCYTOSIS; ERYTHROCYTE; ERYTHROCYTE DISORDER; GAIN OF FUNCTION MUTATION; GENE DUPLICATION; GENE SEQUENCE; HUMAN; LINKAGE ANALYSIS; MEAN CORPUSCULAR HEMOGLOBIN; MISSENSE MUTATION; PHENOTYPE; SCHOOL CHILD;

EID: 84878689800     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms3440     Document Type: Erratum

References (36)

1. Delaunay, J. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Semin. Hematol. 41, 165-172 (2004) (Pubitemid 38509640)
2. Grootenboer, S. et al. Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24. Blood 96, 2599-2605 (2000)
3. Syfuss, P. Y. et al. Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis. Clin. Lab. Haematol. 28, 270-274 (2006)
4. Carella, M. et al. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). Am. J. Hum. Genet. 63, 810-816 (1998) (Pubitemid 30422681)
5. Beaurain, G. et al. Dehydrated hereditary stomatocytosis mimicking familial hyperkalaemic hypertension: clinical and genetic investigation. Eur. J. Haematol. 78, 253-259 (2007).
6. Houston, B. L. et al. Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred. Blood Cells Mol. Dis. 47, 226-231 (2011)
7. Zarychanski, R. et al. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood 120, 1908-1915 (2012)
8. Carella, M. et al. A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. Eur. J. Hum. Genet. 12, 1073-1076 (2004) (Pubitemid 39600136)
9. Carella, M. et al. Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia. Haematologica 84, 862-863 (1999) (Pubitemid 29474381)
10. Andolfo, I. et al. Missense mutations in the ABCB6 transporter cause dominant familialpseudohyperkalemia. Am. J. Hematol. 88, 66-72 (2013)
11. Coste, B. et al. Piezo proteins are pore-forming subunits of mechanically activated channels. Nature 483, 176-181 (2012)
12. Coste, B. et al. Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels. Science 330, 55-60 (2010)
13. McHugh, B. J., Murdoch, A., Haslett, C. & Sethi, T. Loss of the integrinactivating transmembrane protein Fam38A (Piezo1) promotes a switch to a reduced integrin-dependent mode of cell migration. PLoS ONE 7, e40346 (2012)
14. Eisenhoffer, G. T. et al. Crowding induces live cell extrusion to maintain homeostatic cell numbers in epithelia. Nature 484, 546-549 (2012)
15. Kim, S. E., Coste, B., Chadha, A., Cook, B. & Patapoutian, A. The role of Drosophila Piezo in mechanical nociception. Nature 483, 209-212 (2012)
16. Ball, E. V. et al. Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity. Hum. Mutat. 26, 205-213 (2005) (Pubitemid 41254376)
17. Lew, V. L. & Bookchin, R. M. Ion transport pathology in the mechanism of sickle cell dehydration. Physiol. Rev. 85, 179-200 (2005) (Pubitemid 40171259)
18. + channel in human erythrocytes. Int. J. Biochem. Cell Biol. 35, 1182-1197 (2003) (Pubitemid 36577309)
19. Stewart, G. W. Hemolytic disease due to membrane ion channel disorders. Curr. Opin. Hematol. 11, 244-250 (2004) (Pubitemid 39120952)
20. McHugh, B. J. et al. Integrin activation by Fam38A uses a novel mechanism of R-Ras targeting to the endoplasmic reticulum. J. Cell Sci. 123, 51-61 (2010)
21. Mohandas, N. & Gallagher, P. G. Red cell membrane: past, present, and future. Blood 112, 3939-3948 (2008)
22. Bruce, L. J. Hereditary stomatocytosis and cation leaky red cells - recent developments. Blood Cells Mol. Dis. 42, 216-222 (2009)
23. Bruce, L. J. et al. The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. Blood 113, 1350-1357 (2009)
24. Huang, M., Gu, G., Ferguson, E. L. & Chalfie, M. A stomatin-like protein necessary for mechanosensation in C. elegans. Nature 378, 292-295 (1995)
25. Martinez-Salgado, C. et al. Stomatin and sensory neuron mechanotransduction. J. Neurophysiol. 98, 3802-3808 (2007)
26. Wetzel, C. et al. A stomatin-domain protein essential for touch sensation in the mouse. Nature 445, 206-209 (2007) (Pubitemid 46095724)
27. +-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes. PLoS ONE 5, e8732 (2010)
28. Gottlieb, P. A., Bae, C. & Sachs, F. Gating the mechanical channel Piezo1: a comparison between whole-cell and patch recording. Channels 6, 282-289 (2012)
29. Gottlieb, P. A. & Sachs, F. Piezo1: properties of a cation selective mechanical channel. Channels 6, 214-219 (2012)
30. Bae, C., Gnanasambandam, R., Nicolai, C., Sachs, F. & Gottlieb, P. A. Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1. Proc. Nat. Acad. Sci. 110, E1162-E1168 (2013)
31. Andolfo, I. et al. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood doi:10.1182/blood- 2013-02-482489 (2013)
32. Martinaud, C. et al. Antiphospholipid antibodies in a family with dehydrated hereditary stomatocytosis. Thromb. Res. 122, 572-575 (2008)
33. Carli, P., Graffin, B., Gisserot, O., Landais, C. & De Jaureguiberry, J. P. Maladie thromboembolique re'cidivante apres sple'nectomie pour stomatocytose he're'ditaire. La Revue de Me'decine Interne 28, 879-881 (2007)
34. Clark, M., Mohandas, N. & Shohet, S. Osmotic gradient ektacytometry: comprehensive characterization of red cell volume and surface maintenance. Blood 61, 899-910 (1983) (Pubitemid 13089589)
35. Rocha, S. et al. Erythrocyte membrane protein destabilization versus clinical outcome in 160 Portuguese hereditary spherocytosis patients. Br. J. Haematol. 149, 785-794 (2010)
36. Gnirke, A. et al. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat. Biotech. 27, 182-189 (2009).