Disorders of erythrocyte volume homeostasis.

作者: E. Glogowska , P. G. Gallagher

DOI: 10.1111/IJLH.12357

关键词:

摘要: Inherited disorders of erythrocyte volume homeostasis are a heterogeneous group rare with phenotypes ranging from dehydrated to overhydrated erythrocytes. Clinical, laboratory, physiologic, and genetic heterogeneity characterize this disorders. A series recent reports have provided novel insights into our understanding the bases underlying some these red cell regulation. This report reviews progress in determinants that influence hydration how they yielded better pathways cellular water solute homeostasis.

参考文章(39)
GW Stewart, J Delaunay, A Iolascon, M Carella, F Schettini, JF Ajetunmobi, Genetic heterogeneity of hereditary stomatocytosis syndromes showing pseudohyperkalemia. Haematologica. ,vol. 84, pp. 862- 863 ,(1999) , 10.3324/%X
Didier Dhermy, Ingrid Laurendeau, Michael Snyder, Pierre-Olivier Schischmanoff, Marie-Claude Babron, Thérèsa Cynober, Jean Delaunay, Jean-Paul Dommergues, Paolo Gasparini, Bruno Varet, Béatrice Ducot, Samir K. Ballas, Sabine Grootenboer, Achille Iolascon, Gordon W. Stewart, Mireille Bost, Gil Tchernia, Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24 Blood. ,vol. 96, pp. 2599- 2605 ,(2000) , 10.1182/BLOOD.V96.7.2599.H8002599_2599_2605
A. Iolascon, G.W. Stewart, J.F. Ajetunmobi, S. Perrotta, J. Delaunay, M. Carella, L. Zelante, P. Gasparini, Familial Pseudohyperkalemia Maps to the Same Locus as Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis) Blood. ,vol. 93, pp. 3120- 3123 ,(1999) , 10.1182/BLOOD.V93.9.3120
Hélène Guizouarn, Franck Borgese, Nicole Gabillat, Penny Harrison, Jeroen S. Goede, Corrina McMahon, Gordon W. Stewart, Lesley J. Bruce, South‐east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects British Journal of Haematology. ,vol. 152, pp. 655- 664 ,(2011) , 10.1111/J.1365-2141.2010.08454.X
Knut Brockmann, The expanding phenotype of GLUT1-deficiency syndrome Brain and Development. ,vol. 31, pp. 545- 552 ,(2009) , 10.1016/J.BRAINDEV.2009.02.008
Suzanne E. Coles, Mei M. Ho, Margaret C. Chetty, Anna Nicolaou, Gordon W. Stewart, A variant of hereditary stomatocytosis with marked pseudohyperkalaemia British Journal of Haematology. ,vol. 104, pp. 275- 283 ,(1999) , 10.1046/J.1365-2141.1999.01191.X
Rodrigo Franco, Mihalis I. Panayiotidis, Lenin D. Ochoa de la Paz, Autocrine signaling involved in cell volume regulation: The role of released transmitters and plasma membrane receptors Journal of Cellular Physiology. ,vol. 216, pp. 14- 28 ,(2008) , 10.1002/JCP.21406
Immacolata Andolfo, Seth L. Alper, Jean Delaunay, Carla Auriemma, Roberta Russo, Roberta Asci, Maria Rosaria Esposito, Alok K. Sharma, Boris E. Shmukler, Carlo Brugnara, Lucia De Franceschi, Achille Iolascon, Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. American Journal of Hematology. ,vol. 88, pp. 66- 72 ,(2013) , 10.1002/AJH.23357
Joanna F. Flatt, Hélène Guizouarn, Nicholas M. Burton, Franck Borgese, Richard J. Tomlinson, Robert J. Forsyth, Stephen A. Baldwin, Bari E. Levinson, Philippe Quittet, Patricia Aguilar-Martinez, Jean Delaunay, Gordon W. Stewart, Lesley J. Bruce, Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome Blood. ,vol. 118, pp. 5267- 5277 ,(2011) , 10.1182/BLOOD-2010-12-326645
Sviatoslav N. Bagriantsev, Elena O. Gracheva, Patrick G. Gallagher, Piezo Proteins: Regulators of Mechanosensation and Other Cellular Processes Journal of Biological Chemistry. ,vol. 289, pp. 31673- 31681 ,(2014) , 10.1074/JBC.R114.612697