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MeSH Review

Chediak-Higashi Syndrome

 
 
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Disease relevance of Chediak-Higashi Syndrome

 

High impact information on Chediak-Higashi Syndrome

 

Chemical compound and disease context of Chediak-Higashi Syndrome

 

Biological context of Chediak-Higashi Syndrome

 

Anatomical context of Chediak-Higashi Syndrome

 

Gene context of Chediak-Higashi Syndrome

 

Analytical, diagnostic and therapeutic context of Chediak-Higashi Syndrome

  • To study the relation between normal and abnormal alveolar type 2 cells and lung repair after injury, and to gain insight into the defect responsible for the giant lamellar bodies in type 2 cells of the beige mouse (an animal model of the Chediak-Higashi syndrome), we produced lung injury with a single injection of butylated hydroxytoluene (BHT) [28].

References

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  2. Unrelated donor bone marrow transplantation for correction of lethal congenital immunodeficiencies. Filipovich, A.H., Shapiro, R.S., Ramsay, N.K., Kim, T., Blazar, B., Kersey, J., McGlave, P. Blood (1992) [Pubmed]
  3. Bone marrow transplantation from genetically HLA-nonidentical donors in children with fatal inherited disorders excluding severe combined immunodeficiencies: use of two monoclonal antibodies to prevent graft rejection. Jabado, N., Le Deist, F., Cant, A., De Graeff-Meeders, E.R., Fasth, A., Morgan, G., Vellodi, A., Hale, G., Bujan, W., Thomas, C., Cavazzana-Calvo, M., Wijdenes, J., Fischer, A. Pediatrics (1996) [Pubmed]
  4. Effect of muramyl dipeptide analog on Salmonella enteritidis infection in beige mice with Chediak-Higashi syndrome. Onozuka, K., Saito-Taki, T., Nakano, M. Microbiol. Immunol. (1984) [Pubmed]
  5. Albinism. François, J. Ophthalmologica (1979) [Pubmed]
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  7. Microbicidal/cytotoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and "specific" granule deficiency. Ganz, T., Metcalf, J.A., Gallin, J.I., Boxer, L.A., Lehrer, R.I. J. Clin. Invest. (1988) [Pubmed]
  8. Acyclovir in accelerated phase of Chediak-Higashi syndrome. Conley, M.E., Henle, W. Lancet (1987) [Pubmed]
  9. Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome. Faigle, W., Raposo, G., Tenza, D., Pinet, V., Vogt, A.B., Kropshofer, H., Fischer, A., de Saint-Basile, G., Amigorena, S. J. Cell Biol. (1998) [Pubmed]
  10. Tubulin tyrosinolation in human polymorphonuclear leukocytes: studies in normal subjects and in patients with the Chediak-Higashi syndrome. Nath, J., Flavin, M., Gallin, J.I. J. Cell Biol. (1982) [Pubmed]
  11. Decreased nucleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome cattle and human platelets. Bell, T.G., Meyers, K.M., Prieur, D.J., Fauci, A.S., Wolff, S.M., Padgett, G.A. Blood (1976) [Pubmed]
  12. Improvement of Chediak-Higashi leukocyte function by cyclic guanosine monophosphate. Boxer, L.A., Rister, M., Allen, J.M., Baehner, R.L. Blood (1977) [Pubmed]
  13. Ultrastructural and biochemical characterization of glycosaminoglycans in HNK-1-positive large granular lymphocytes. Parmley, R.T., Rahemtulla, F., Cooper, M.D., Rodén, L. Blood (1985) [Pubmed]
  14. Alterations in the proximal nephron of beige mice with the Chédiak-Higashi syndrome. Eguchi, M., Poon, K.C., Spicer, S.S. Am. J. Pathol. (1982) [Pubmed]
  15. Selective inhibition of dipeptidyl peptidase I, not caspases, prevents the partial processing of procaspase-3 in CD3-activated human CD8(+) T lymphocytes. Bidère, N., Briet, M., Dürrbach, A., Dumont, C., Feldmann, J., Charpentier, B., de Saint-Basile, G., Senik, A. J. Biol. Chem. (2002) [Pubmed]
  16. Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. Davies, J.P., Cotter, P.D., Ioannou, Y.A. Genomics (1997) [Pubmed]
  17. Normal-sized primary lysosomes are present in Chediak-Higashi syndrome neutrophils. White, J.G., Krumwiede, M. Pediatr. Res. (1987) [Pubmed]
  18. Localization of the locus responsible for Chediak-Higashi syndrome in cattle to bovine chromosome 28. Kunieda, T., Ide, H., Nakagiri, M., Yoneda, K., Konfortov, B., Ogawa, H. Anim. Genet. (2000) [Pubmed]
  19. Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation. Barrat, F.J., Le Deist, F., Benkerrou, M., Bousso, P., Feldmann, J., Fischer, A., de Saint Basile, G. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  20. Effect of ascorbate on abnormal neutrophil, platelet and lymphocytic function in a patient with the Chediak-Higashi syndrome. Weening, R.S., Schoorel, E.P., Roos, D., van Schaik, M.L., Voetman, A.A., Bot, A.A., Batenburg-Plenter, A.M., Willems, C., Zeijlemaker, W.P., Astaldi, A. Blood (1981) [Pubmed]
  21. Inhibitors of elastase and cathepsin G in Chédiak-Higashi (beige) neutrophils. Takeuchi, K.H., Swank, R.T. J. Biol. Chem. (1989) [Pubmed]
  22. Primary and secondary lysosomes in megakaryocytes and platelets from cattle with the Chediak-Higashi syndrome. Ménard, M., Meyers, K.M., Prieur, D.J. Thromb. Haemost. (1990) [Pubmed]
  23. Molecular basis of congenital hypopigmentary disorders in humans: a review. Boissy, R.E., Nordlund, J.J. Pigment Cell Res. (1997) [Pubmed]
  24. Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome. Zarzour, W., Kleta, R., Frangoul, H., Suwannarat, P., Jeong, A., Kim, S.Y., Wayne, A.S., Gunay-Aygun, M., White, J., Filipovich, A.H., Gahl, W.A. Mol. Genet. Metab. (2005) [Pubmed]
  25. Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25. Runkel, F., Büssow, H., Seburn, K.L., Cox, G.A., Ward, D.M., Kaplan, J., Franz, T. Mamm. Genome (2006) [Pubmed]
  26. Alfy, a novel FYVE-domain-containing protein associated with protein granules and autophagic membranes. Simonsen, A., Birkeland, H.C., Gillooly, D.J., Mizushima, N., Kuma, A., Yoshimori, T., Slagsvold, T., Brech, A., Stenmark, H. J. Cell. Sci. (2004) [Pubmed]
  27. Relationship of the genes for Chediak-Higashi syndrome (beige) and the T-cell receptor gamma chain in mouse and man. Holcombe, R.F., Strauss, W., Owen, F.L., Boxer, L.A., Warren, R.W., Conley, M.E., Ferrara, J., Leavitt, R.Y., Fauci, A.S., Taylor, B.A. Genomics (1987) [Pubmed]
  28. Response of normal and beige mouse alveolar type 2 cells to lung injury. Smith, L.J., Kaplan, N.B., Brody, J. Am. Rev. Respir. Dis. (1980) [Pubmed]
 
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