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Spectrin beta-chain variant associated with hereditary elliptocytosis.

D Dhermy, … , J Delaunay, P Boivin

D Dhermy, … , J Delaunay, P Boivin

Published October 1, 1982
Citation Information: J Clin Invest. 1982;70(4):707-715. https://doi.org/10.1172/JCI110666.

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Citations to this article (54)

Title and authors	Publication	Year
Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c Pang L, Zeng Z, Ding Y, Huang H, Li H	Frontiers in Medicine	2023
A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report S Shin, KA Hwang, K Paik, J Park	Hematology (Amsterdam, Netherlands)	2020
Current Topics in Membranes TC Wagenknecht, Z Liu	Structure and Function of Calcium Release Channels	2010
Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site M Gaetani, S Mootien, S Harper, PG Gallagher, DW Speicher	Blood	2008
Hereditary elliptocytosis: spectrin and protein 4.1R PG Gallagher	Seminars in Hematology	2004
Klinische Biochemie RF Ludueña		1997
Carbamylation of erythrocyte membrane proteins: an in vitro and in vivo study D Trepanier	Clinical Biochemistry	1996
Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis P Maillet, N Alloisio, L Morlé, J Delaunay	Human Mutation	1996
The Cytoskeleton: A Multi-Volume Treatise JE Barker	The Cytoskeleton: A Multi-Volume Treatise	1996
Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene PG Gallagher, SA Weed, WT Tse, L Benoit, JS Morrow, SL Marchesi, N Mohandas, BG Forget	Journal of Clinical Investigation	1995
Genetic disorders of the red cell membrane J Delaunay	Critical Reviews in Oncology/Hematology	1995
β spectrinPRAGUE: a truncated β spectrin producing spectrin deficiency, defective spectrin heterodimer self-association and a phenotype of spherocytic elliptocytosis P Jarolim, H Wichterle, M Hanspal, J Murray, HL Robin, J Palek	British Journal of Haematology	1995
β spectrin PRAGUE : a truncated β spectrin producing spectrin deficiency, defective spectrin heterodimer self-association and a phenotype of spherocytic elliptocytosis P Jarolim, H Wichterle, M Hanspal, J Murray, HL Robin, J Palek	British Journal of Haematology	1995
Hereditary elliptocytosis associated with spectrin Le Puy in a Japanese family: Ultrastructural aspect of the red cell skeleton J Maréchal, H Wada, T Koffa, A Kanzaki, R Wilmotte, K Ikoma, A Yawata, T Inoue, K Takanashi, A Miura, N Alloisio, J Delaunay, Y Yawata	European Journal of Haematology	1994
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical PG Gallagher, WT Tse, T Coetzer, MC Lecomte, M Garbarz, HS Zarkowsky, A Baruchel, SK Ballas, D Dhermy, J Palek	Journal of Clinical Investigation	1992
A large erythroid spectrin Î²-chain variant RM Johnson, Y Ravindranath, F Brohn, M Hussain	British Journal of Haematology	1992
Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation M Garbarz, WT Tse, PG Gallagher, C Picat, MC Lecomte, F Galibert, D Dhermy, BG Forget	Journal of Clinical Investigation	1991
EPR study of the hydrophobic interaction of spectrin with fatty acids S Streichman, E Kahana, BL Silver	Biochimica et Biophysica Acta (BBA) - Biomembranes	1991
A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain PG Gallagher, WT Tse, F Costa, A Scarpa, P Boivin, J Delaunay, BG Forget	The Journal of biological chemistry	1991
Molecular defect of truncated beta-spectrin associated with hereditary elliptocytosis. Beta-spectrin Gottingen SH Yoon, H Yu, S Eber, JT Prchal	The Journal of biological chemistry	1991
The Pathophysiology of Hemolytic Anemias SK Ballas	Transfusion Medicine Reviews	1990
The red cell skeleton and its genetic disorders J Delaunay, N Alloisio, L Morlé, B Pothier	Molecular Aspects of Medicine	1990
Abnormal tryptic peptide from the spectrin α-chain resulting from α- or β-chain mutations: two genetically distinct forms of the Sp αI/74variant MC Lecomte, H Gautero, M Garbarz, P Boivin, D Dhermy	British Journal of Haematology	1990
Abnormal tryptic peptide from the spectrin α-chain resulting from α- or β-chain mutations: two genetically distinct forms of the Sp α I/74 variant MC Lecomte, H Gautero, M Garbarz, P Boivin, D Dhermy	British Journal of Haematology	1990
In vitro digestion of spectrin, protein 4.1 and ankyrin by erythrocyte calcium dependent neutral protease (Calpain I) P Boivin, C Galand, D Dhermy	International Journal of Biochemistry	1990
Erythroid Cells JR Harris		1990
Beta spectrin in human skeletal muscle. Tissue-specific differential processing of 3' beta spectrin pre-mRNA generates a beta spectrin isoform with a unique carboxyl terminus JC Winkelmann, FF Costa, BL Linzie, BG Forget	The Journal of biological chemistry	1990
Full-length sequence of the cDNA for human erythroid beta-spectrin JC Winkelmann, JG Chang, WT Tse, AL Scarpa, VT Marchesi, BG Forget	The Journal of biological chemistry	1990
Interactions of spectrin in hereditary elliptocytes containing truncated spectrin beta-chains SW Eber, SA Morris, W Schröter, WB Gratzer	Journal of Clinical Investigation	1988
Direct involvement of spectrin thiols in maintaining erythrocyte membrane thermal stability and spectrin dimer self-association S Streichman, E Hertz, I Tatarsky	Biochimica et Biophysica Acta (BBA) - Biomembranes	1988
Multiple protein 4.1 isoforms produced by alternative splicing in human erythroid cells JG Conboy, J Chan, N Mohandas, YW Kan	Proceedings of the National Academy of Sciences	1988
Unique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis PA Lane, RL Shew, TA Iarocci, N Mohandas, T Hays, WC Mentzer	Journal of Clinical Investigation	1987
Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis SL Marchesi, JT Letsinger, DW Speicher, VT Marchesi, P Agre, B Hyun, G Gulati	Journal of Clinical Investigation	1987
Hereditary elliptocytosis, spherocytosis and related disorders: Consequences of a deficiency or a mutation of membrane skeletal proteins J Palek	Blood Reviews	1987
Defective spectrin dimer self-association in thalassemic red cells P Lamchiagdhase, P Wilairat, S Sahaphong, A Bunyaratvej, S Fucharoen	European Journal of Haematology	1987
Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin JT Prchal, BJ Morley, SH Yoon, TL Coetzer, J Palek, JG Conboy, YW Kan	Proceedings of the National Academy of Sciences	1987
Assignment of mouse beta-spectrin gene to chromosome 12 P Laurila, L Cioe, CA Kozak, PJ Curtis	Somatic Cell and Molecular Genetics	1987
Clinical disorders of the red cell membrane skeleton S Zail, SB Shohet	Critical Reviews in Oncology/Hematology	1986
Prenatal diagnosis of hereditary red cell membrane defect SA Morris, V Ohanian, ML Lewis, SB Chahwala, CH Rodeck, RS Mibashan, WB Gratzer	British Journal of Haematology	1986
Spα1/65 hereditary elliptocytosis in North Africa N Alloisio, D Guetarni, L Morlé, B Pothier, MT Ducluzeau, A Soun, P Colonna, M Clerc, N Philippe, J Delaunay	American Journal of Hematology	1986
Molecular Basis of Hereditary Elliptocytosis Due to Protein 4.1 Deficiency J Conboy, N Mohandas, G Tchernia, YW Kan	New England Journal of Medicine	1986
A case of elliptocytosis associated with a truncated spectrin chain V Ohanian, JP Evans, WB Gratzer	British Journal of Haematology	1985
Mechanism of cytoskeletal regulation (I): functional differences correlate with antigenic dissimilarity in human brain and erythrocyte spectrin AS Harris, LA Green, KJ Ainger, JS Morrow	Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology	1985
Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis MC Lecomte, D Dhermy, M Garbarz, C Feo, H Gautero, O Bournier, C Picat, I Chaveroche, A Ester, C Galand, P Boivin	Human Genetics	1985
Hereditary Elliptocytosis and Related Disorders J Palek	Clinics in Haematology	1985
Hereditary Spherocytosis and Related Disorders PS Becker, SE Lux	Clinics in Haematology	1985
Hemin-mediated dissociation of erythrocyte membrane skeletal proteins SC Liu, S Zhai, J Lawler, J Palek	The Journal of biological chemistry	1985
A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association J Lawler, SC Liu, J Palek, J Prchal	Journal of Clinical Investigation	1984
Defective binding of spectrin to ankyrin in a kindred with recessively inherited hereditary elliptocytosis SS Zail, TL Coetzer	Journal of Clinical Investigation	1984
Erythrocytic pyruvate kinase deficiency and hemolytic anemia inherited as a dominant trait J Etiemble, C Picat, D Dhermy, HA Buc, M Morin, P Boivin	American Journal of Hematology	1984
The detection of human antibodies against cytoskeletal components P Kurki, I Virtanen	Journal of Immunological Methods	1984
Protéines de la membrane érythrocytaire P Boivin	La Revue de Médecine Interne	1984
Erythrocyte membrane skeleton abnormalities in hereditary spherocytosis BE Burke, DM Shotton	British Journal of Haematology	1983
Muscle and Nonmuscle Motility WB Gratzer	Muscle and Nonmuscle Motility	1983

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