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MeSH Review

Spherocytosis, Hereditary

 
 
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Disease relevance of Spherocytosis, Hereditary

 

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Chemical compound and disease context of Spherocytosis, Hereditary

 

Biological context of Spherocytosis, Hereditary

 

Gene context of Spherocytosis, Hereditary

 

Analytical, diagnostic and therapeutic context of Spherocytosis, Hereditary

References

  1. Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE). Jarolim, P., Rubin, H.L., Liu, S.C., Cho, M.R., Brabec, V., Derick, L.H., Yi, S.J., Saad, S.T., Alper, S., Brugnara, C. J. Clin. Invest. (1994) [Pubmed]
  2. Growth of Plasmodium falciparum in human erythrocytes containing abnormal membrane proteins. Schulman, S., Roth, E.F., Cheng, B., Rybicki, A.C., Sussman, I.I., Wong, M., Wang, W., Ranney, H.M., Nagel, R.L., Schwartz, R.S. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  3. Human red cell membrane adenylate cyclase in normal subjects and patients with hereditary spherocytosis, sickle cell disease and unidentified hemolytic anemias. Piau, J.P., Delaunay, J., Fischer, S., Tortolero, M., Schapira, G. Blood (1980) [Pubmed]
  4. Thrombosis and secondary hemochromatosis play major roles in the pathogenesis of jaundiced and spherocytic mice, murine models for hereditary spherocytosis. Kaysser, T.M., Wandersee, N.J., Bronson, R.T., Barker, J.E. Blood (1997) [Pubmed]
  5. Clinical and hematologic benefits of partial splenectomy for congenital hemolytic anemias in children. Rice, H.E., Oldham, K.T., Hillery, C.A., Skinner, M.A., O'Hara, S.M., Ware, R.E. Ann. Surg. (2003) [Pubmed]
  6. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Eber, S.W., Gonzalez, J.M., Lux, M.L., Scarpa, A.L., Tse, W.T., Dornwell, M., Herbers, J., Kugler, W., Ozcan, R., Pekrun, A., Gallagher, P.G., Schröter, W., Forget, B.G., Lux, S.E. Nat. Genet. (1996) [Pubmed]
  7. A genetic defect in the binding of protein 4.1 to spectrin in a kindred with hereditary spherocytosis. Wolfe, L.C., John, K.M., Falcone, J.C., Byrne, A.M., Lux, S.E. N. Engl. J. Med. (1982) [Pubmed]
  8. Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Agre, P., Casella, J.F., Zinkham, W.H., McMillan, C., Bennett, V. Nature (1985) [Pubmed]
  9. Hereditary spherocytosis and glucose-6-phosphate dehydrogenase deficiency. Rubins, J., Young, L.E. JAMA (1977) [Pubmed]
  10. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. Becker, P.S., Tse, W.T., Lux, S.E., Forget, B.G. J. Clin. Invest. (1993) [Pubmed]
  11. Abnormal phosphoenolpyruvate transport in erythrocytes of hereditary spherocytosis. Ideguchi, H., Hamasaki, N., Ikehara, Y. Blood (1981) [Pubmed]
  12. Hereditary spherocytosis and elliptocytosis erythrocytes show a normal transbilayer phospholipid distribution. de Jong, K., Larkin, S.K., Eber, S., Franck, P.F., Roelofsen, B., Kuypers, F.A. Blood (1999) [Pubmed]
  13. Absence of one component of spectrin adenosine triphosphatase in hereditary spherocytosis. Kirkpatrick, F.H., Woods, G.M., La Celle, P.L. Blood (1975) [Pubmed]
  14. A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. Jarolim, P., Rubin, H.L., Brabec, V., Palek, J. J. Clin. Invest. (1995) [Pubmed]
  15. Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin. White, R.A., Birkenmeier, C.S., Lux, S.E., Barker, J.E. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  16. Diminished osmotic fragility of human erythrocytes following the membrane insertion of oxygenated sterol compounds. Streuli, R.A., Kanofsky, J.R., Gunn, R.B., Yachnin, S. Blood (1981) [Pubmed]
  17. Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency. Peters, L.L., Swearingen, R.A., Andersen, S.G., Gwynn, B., Lambert, A.J., Li, R., Lux, S.E., Churchill, G.A. Blood (2004) [Pubmed]
  18. Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. Bruce, L.J., Ghosh, S., King, M.J., Layton, D.M., Mawby, W.J., Stewart, G.W., Oldenborg, P.A., Delaunay, J., Tanner, M.J. Blood (2002) [Pubmed]
  19. Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins. Palek, J. Blood Rev. (1987) [Pubmed]
  20. Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. Maillet, P., Vallier, A., Reinhart, W.H., Wyss, E.J., Ott, P., Texier, P., Baklouti, F., Tanner, M.J., Delaunay, J., Alloisio, N. Br. J. Haematol. (1995) [Pubmed]
  21. Isoform cloning, actin binding, and chromosomal localization of human erythroid dematin, a member of the villin superfamily. Azim, A.C., Knoll, J.H., Beggs, A.H., Chishti, A.H. J. Biol. Chem. (1995) [Pubmed]
  22. A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka). Takaoka, Y., Ideguchi, H., Matsuda, M., Sakamoto, N., Takeuchi, T., Fukumaki, Y. Br. J. Haematol. (1994) [Pubmed]
  23. Membrane protein pattern in hereditary spherocytosis in five subjects from north-east Italy obtained by SDS-PAGE using N,N'-diallyltartardiamide. Giuliani, A.L., Bigoni, B., Veronesi, M., Manservigi, R., Mischiati, C., Berti, G., Zavagli, G., Ricci, G. Eur. J. Haematol. (1999) [Pubmed]
  24. Modified end-point glycerol hemolysis assay as a screening test for hereditary spherocytosis that requires no venipuncture. Judkiewicz, L., Szczepanek, A., Bugała, I., Bartosz, G. Am. J. Hematol. (1987) [Pubmed]
  25. Open heart surgery in presence of hereditary spherocytosis. Dal, A., Kumar, R.S. The Journal of cardiovascular surgery. (1995) [Pubmed]
 
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