메뉴 건너뛰기




Volumn 18, Issue 2, 1998, Pages 97-105

Genetic defects in Chediak-Higashi syndrome and the beige mouse

Author keywords

Animal models; Beige; Chediak Higashi syndrome; Immune deficiency; Natural killer cells

Indexed keywords

COMPLEMENTARY DNA;

EID: 0031887486     PISSN: 02719142     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1023247215374     Document Type: Review
Times cited : (79)

References (103)
  • 1
    • 0040920369 scopus 로고    scopus 로고
    • Baltimore, MD, Johns Hopkins University and National Center tor Biotechnology Information, National Library of Medicine
    • Online Mendelian Inheritance in Man, OMIM (TM). Baltimore, MD, Johns Hopkins University and National Center tor Biotechnology Information, National Library of Medicine, 1997
    • (1997) Online Mendelian Inheritance in Man, OMIM (TM)
  • 2
    • 0001415754 scopus 로고
    • Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos
    • Beguez-Cesar AB: Neutropenia cronica maligna familiar con granulaciones atipicas de los leucocitos. Bol Soc Cubana Pediatr 15:900-922, 1943
    • (1943) Bol Soc Cubana Pediatr , vol.15 , pp. 900-922
    • Beguez-Cesar, A.B.1
  • 3
    • 0009654366 scopus 로고
    • Uber eine neue Granulationsanomalie der Leukocyten
    • Steinbrinck W: Uber eine neue Granulationsanomalie der Leukocyten. Dtsch Arch Klin Med 193:577-581, 1948
    • (1948) Dtsch Arch Klin Med , vol.193 , pp. 577-581
    • Steinbrinck, W.1
  • 4
    • 84924838625 scopus 로고
    • Nouvelle anomalie leukocytaire de caractere constitutionnel et familiel
    • Chediak M: Nouvelle anomalie leukocytaire de caractere constitutionnel et familiel. Rev Hematol 7:362-367, 1952
    • (1952) Rev Hematol , vol.7 , pp. 362-367
    • Chediak, M.1
  • 5
    • 0001021096 scopus 로고
    • Congenital gigantism of peroxidase granules
    • Higashi O: Congenital gigantism of peroxidase granules. Tohoku J Exp Med 59:315-332, 1954
    • (1954) Tohoku J Exp Med , vol.59 , pp. 315-332
    • Higashi, O.1
  • 6
    • 0000136345 scopus 로고
    • Chediak and Highashi's disease: Probable identity of "a new leukocytal anomaly (Chediak)" and "congenital gigantism of peroxidase granules (Higashi)."
    • Sato A: Chediak and Highashi's disease: Probable identity of "a new leukocytal anomaly (Chediak)" and "congenital gigantism of peroxidase granules (Higashi)." Tohoku J Exp Med 61:201-210. 1955
    • (1955) Tohoku J Exp Med , vol.61 , pp. 201-210
    • Sato, A.1
  • 7
    • 0000065176 scopus 로고
    • Chediak-Higashi syndrome: A lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: Report of a case with necropsy
    • Donohue WL, Bain HW: Chediak-Higashi syndrome: A lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: Report of a case with necropsy. Pediatrics 20:416-430, 1957
    • (1957) Pediatrics , vol.20 , pp. 416-430
    • Donohue, W.L.1    Bain, H.W.2
  • 8
    • 0020307573 scopus 로고
    • Chediak-Higashi syndrome: Description of a cluster in a Venezuelan-Andean isolated region
    • Ramirez-Duque P, Arends T, Merino F: Chediak-Higashi syndrome: Description of a cluster in a Venezuelan-Andean isolated region. J Med 13:431-451, 1983
    • (1983) J Med , vol.13 , pp. 431-451
    • Ramirez-Duque, P.1    Arends, T.2    Merino, F.3
  • 11
    • 0018908549 scopus 로고
    • Chediak-Higashi gene in humans. II. The selectivity of the defect in natural-killer and antibody-dependent cell-mediated cytotoxicity function
    • Klein M, Roder J, Haliotis T, Korec S, Jett JR, Herberman RB, Katz P, Fauci AS: Chediak-Higashi gene in humans. II. The selectivity of the defect in natural-killer and antibody-dependent cell-mediated cytotoxicity function. J Exp Med 151:1049-1058, 1980
    • (1980) J Exp Med , vol.151 , pp. 1049-1058
    • Klein, M.1    Roder, J.2    Haliotis, T.3    Korec, S.4    Jett, J.R.5    Herberman, R.B.6    Katz, P.7    Fauci, A.S.8
  • 13
    • 0019985228 scopus 로고
    • Deficiency of active natural killer cells in the Chediak-Higashi syndrome: Localization of the defect using a single cell cytotoxicity assay
    • Katz P, Zaytoun AM, Fauci AS: Deficiency of active natural killer cells in the Chediak-Higashi syndrome: Localization of the defect using a single cell cytotoxicity assay. J Clin Invest 69:1231-1238, 1982
    • (1982) J Clin Invest , vol.69 , pp. 1231-1238
    • Katz, P.1    Zaytoun, A.M.2    Fauci, A.S.3
  • 14
    • 0020638368 scopus 로고
    • Elevated antibody titers to Epstein-Barr virus and low natural killer cell activity in patients with Chediak-Higashi syndrome
    • Merino F, Klein GO, Henle W, Ramirez-Duque P, Forsgren M, Amesty C: Elevated antibody titers to Epstein-Barr virus and low natural killer cell activity in patients with Chediak-Higashi syndrome. Clin Immunol Immunopathol 27:326-339, 1983
    • (1983) Clin Immunol Immunopathol , vol.27 , pp. 326-339
    • Merino, F.1    Klein, G.O.2    Henle, W.3    Ramirez-Duque, P.4    Forsgren, M.5    Amesty, C.6
  • 16
    • 0029039291 scopus 로고
    • Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis
    • Baetz K, Isaaz S, Griffiths GM: Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis. J Immunol 154: 6122-6131, 1995
    • (1995) J Immunol , vol.154 , pp. 6122-6131
    • Baetz, K.1    Isaaz, S.2    Griffiths, G.M.3
  • 17
    • 0015184560 scopus 로고
    • Defective granulocyte chemotaxis in the Chediak-Higashi syndrome
    • Clark RA, Kimball HR: Defective granulocyte chemotaxis in the Chediak-Higashi syndrome. J Clin Invest 50:2645-2652, 1971
    • (1971) J Clin Invest , vol.50 , pp. 2645-2652
    • Clark, R.A.1    Kimball, H.R.2
  • 21
    • 0027373430 scopus 로고
    • Defects of leukocyte locomotion and chemotaxis: Prospects, assays, and lessons from Chediak-Higashi neutrophils
    • Wilkinson PC: Defects of leukocyte locomotion and chemotaxis: prospects, assays, and lessons from Chediak-Higashi neutrophils. Eur J Clin Invest 23:690-692, 1993
    • (1993) Eur J Clin Invest , vol.23 , pp. 690-692
    • Wilkinson, P.C.1
  • 22
    • 0015310380 scopus 로고
    • Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi syndrome leukocytes
    • Root RK, Rosenthal AS, Balestra DJ: Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi syndrome leukocytes. J Clin Invest 51:649-665, 1972
    • (1972) J Clin Invest , vol.51 , pp. 649-665
    • Root, R.K.1    Rosenthal, A.S.2    Balestra, D.J.3
  • 23
    • 0018345315 scopus 로고
    • Efficiency of ascorbic acid in Chediak-Higashi syndrome (CHS): Studies in humans and mice
    • Gallin JI, Elm RJ, Hubert RT, Fauci AS, Kallner MA, Wolff SM: Efficiency of ascorbic acid in Chediak-Higashi syndrome (CHS): Studies in humans and mice. Blood 53:226-234, 1979
    • (1979) Blood , vol.53 , pp. 226-234
    • Gallin, J.I.1    Elm, R.J.2    Hubert, R.T.3    Fauci, A.S.4    Kallner, M.A.5    Wolff, S.M.6
  • 24
    • 0015878304 scopus 로고
    • Distribution of anomalous lysosomes in the beige mouse: A homologue of the Chediak-Higashi syndrome
    • Oliver C, Essner E: Distribution of anomalous lysosomes in the beige mouse: A homologue of the Chediak-Higashi syndrome. J Histochem Cytochem 21:218-228, 1973
    • (1973) J Histochem Cytochem , vol.21 , pp. 218-228
    • Oliver, C.1    Essner, E.2
  • 26
    • 0018873910 scopus 로고
    • Therapy of the Steinbrinck-Chediak-Higashi-syndrome
    • authors' transl.
    • Rister M, Haneke C: [Therapy of the Steinbrinck-Chediak-Higashi-syndrome (authors' transl.)]. Klin Padiat 192:19-24, 1980
    • (1980) Klin Padiat , vol.192 , pp. 19-24
    • Rister, M.1    Haneke, C.2
  • 27
    • 0015365620 scopus 로고
    • The Chediak-Higashi syndrome: Studies in four patients and a review of the literature
    • Blume RS, Wolff SM: The Chediak-Higashi syndrome: Studies in four patients and a review of the literature. Medicine 51:247-280. 1972
    • (1972) Medicine , vol.51 , pp. 247-280
    • Blume, R.S.1    Wolff, S.M.2
  • 29
    • 0018086240 scopus 로고
    • Lymphotoxin (LT) production by lymphocytes from children with primary immunodeficiency disease
    • Prieur A-M, Griscelli C, Dasuillard F: Lymphotoxin (LT) production by lymphocytes from children with primary immunodeficiency disease. Clin Immunol Immunopathol 10:468-476, 1978
    • (1978) Clin Immunol Immunopathol , vol.10 , pp. 468-476
    • Prieur, A.-M.1    Griscelli, C.2    Dasuillard, F.3
  • 31
    • 0013956020 scopus 로고
    • Chediak-Higashi syndrome: Observations on the nature of the associated malignancy
    • Dent PB, Fish LA, White JG, Good RA: Chediak-Higashi syndrome: Observations on the nature of the associated malignancy. Lab Invest 15:1634-1642, 1966
    • (1966) Lab Invest , vol.15 , pp. 1634-1642
    • Dent, P.B.1    Fish, L.A.2    White, J.G.3    Good, R.A.4
  • 34
    • 0022415672 scopus 로고
    • The familial histiocytoses
    • Spritz RA: The familial histiocytoses. Pediatr Pathol 3:43-57, 1985
    • (1985) Pediatr Pathol , vol.3 , pp. 43-57
    • Spritz, R.A.1
  • 38
    • 15144355265 scopus 로고
    • Manifestaciones cutaneas del sindrome de Chediak-Higashi
    • Pierini DO, Abulafia J: Manifestaciones cutaneas del sindrome de Chediak-Higashi. Arch Argent Dermatol 8:23-31, 1958
    • (1958) Arch Argent Dermatol , vol.8 , pp. 23-31
    • Pierini, D.O.1    Abulafia, J.2
  • 40
    • 0014007775 scopus 로고
    • Chediak-Higashi syndrome: Hereditary gigantism of cytoplasmic organelles
    • Windhorst DB, Zelickson AS, Good RA: Chediak-Higashi syndrome: Hereditary gigantism of cytoplasmic organelles. Science 151:81-83, 1966
    • (1966) Science , vol.151 , pp. 81-83
    • Windhorst, D.B.1    Zelickson, A.S.2    Good, R.A.3
  • 41
    • 0014235777 scopus 로고
    • A human pigmentary dilution based on a heritable subcellular structural defect - The Chediak-Higashi syndrome
    • Windhorst DB, Zelickson AS, Good RA: A human pigmentary dilution based on a heritable subcellular structural defect - The Chediak-Higashi syndrome. J Invest Dermatol 50:9-18, 1968
    • (1968) J Invest Dermatol , vol.50 , pp. 9-18
    • Windhorst, D.B.1    Zelickson, A.S.2    Good, R.A.3
  • 42
    • 0014184363 scopus 로고
    • The Chediak-Higashi syndrome: Formation of giant melanosomes and the basis of hypopigmentation
    • Zelickson AS, Windhorst DB, White JG, Good RA: The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol 49:575-581, 1967
    • (1967) J Invest Dermatol , vol.49 , pp. 575-581
    • Zelickson, A.S.1    Windhorst, D.B.2    White, J.G.3    Good, R.A.4
  • 43
    • 0015134874 scopus 로고
    • Pigmentary changes in Chediak-Higashi syndrome
    • Bedoya V: Pigmentary changes in Chediak-Higashi syndrome. Br J Dermatol 85:336-347, 1971
    • (1971) Br J Dermatol , vol.85 , pp. 336-347
    • Bedoya, V.1
  • 44
    • 0027337549 scopus 로고
    • Chediak-Higashi syndrome: Report of a case and review of the Japanese literature
    • Fukai K, Ishii M, Kadoya A, Chanoki M, Hamada T: Chediak-Higashi syndrome: Report of a case and review of the Japanese literature. J Dermatol 20:231-237, 1993
    • (1993) J Dermatol , vol.20 , pp. 231-237
    • Fukai, K.1    Ishii, M.2    Kadoya, A.3    Chanoki, M.4    Hamada, T.5
  • 46
    • 0019433766 scopus 로고
    • The ocular pigmentary disturbance of human study and review of the literature
    • Valenzuela R, Morningstar WA: The ocular pigmentary disturbance of human study and review of the literature. Am J Clin Pathol 75:591-596, 1981
    • (1981) Am J Clin Pathol , vol.75 , pp. 591-596
    • Valenzuela, R.1    Morningstar, W.A.2
  • 48
    • 0017136389 scopus 로고
    • Platelet function in the Chediak-Higashi syndrome
    • Buchanan GR, Handin RI: Platelet function in the Chediak-Higashi syndrome. Blood 47:941-948, 1977
    • (1977) Blood , vol.47 , pp. 941-948
    • Buchanan, G.R.1    Handin, R.I.2
  • 49
    • 0014095412 scopus 로고
    • The Chediak-Higashi syndrome: Electrophysiological and electron microscopic observations on the peripheral neuropathy
    • Lockman LA, Kennedy WR, White JG: The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 70:942-951, 1967
    • (1967) J Pediatr , vol.70 , pp. 942-951
    • Lockman, L.A.1    Kennedy, W.R.2    White, J.G.3
  • 50
  • 51
    • 0027383317 scopus 로고
    • A histochemical and electron microscopic study of skeletal muscle in an adult case of Chediak-Higashi syndrome
    • Uchino M, Uyama E, Hirano T, Nakamura T, Fukushima T, Audo M: A histochemical and electron microscopic study of skeletal muscle in an adult case of Chediak-Higashi syndrome. Acta Neuropathol 86:521-524, 1993
    • (1993) Acta Neuropathol , vol.86 , pp. 521-524
    • Uchino, M.1    Uyama, E.2    Hirano, T.3    Nakamura, T.4    Fukushima, T.5    Audo, M.6
  • 52
    • 0013941958 scopus 로고
    • The Chediak-Higashi syndrome: A possible lysosomal disease
    • White JG: The Chediak-Higashi syndrome: A possible lysosomal disease. Blood 28:143-156, 1966
    • (1966) Blood , vol.28 , pp. 143-156
    • White, J.G.1
  • 53
    • 0027515147 scopus 로고
    • The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes
    • Burkhardt JK, Wiebel FA, Hester S, Aragon A: The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes. J Exp Med 178: 1845-1856, 1993
    • (1993) J Exp Med , vol.178 , pp. 1845-1856
    • Burkhardt, J.K.1    Wiebel, F.A.2    Hester, S.3    Aragon, A.4
  • 54
    • 0026678470 scopus 로고
    • Chediak-Higashi lymphoblastoid cell lines: Granule characteristics and expression of lysosome-associated membrane proteins
    • Jones KL, Stewart RM, Fowler M, Fukuda M, Holcombe RF: Chediak-Higashi lymphoblastoid cell lines: granule characteristics and expression of lysosome-associated membrane proteins. Clin Immunol Immunopathol 65:219-226, 1992
    • (1992) Clin Immunol Immunopathol , vol.65 , pp. 219-226
    • Jones, K.L.1    Stewart, R.M.2    Fowler, M.3    Fukuda, M.4    Holcombe, R.F.5
  • 55
    • 0014405868 scopus 로고
    • Defective granulocyte regulation in the Chediak-Higashi syndrome
    • Blume RS, Bennett JM, Yankee RA, Wolff SM: Defective granulocyte regulation in the Chediak-Higashi syndrome. N Engl J Med 279:1009-1015, 1968
    • (1968) N Engl J Med , vol.279 , pp. 1009-1015
    • Blume, R.S.1    Bennett, J.M.2    Yankee, R.A.3    Wolff, S.M.4
  • 56
    • 0029081168 scopus 로고
    • Melanosomes are specialized members of the lysosomal lineage of organelles
    • Orlow SJ: Melanosomes are specialized members of the lysosomal lineage of organelles. J Invest Dermatol 105:3-7, 1995
    • (1995) J Invest Dermatol , vol.105 , pp. 3-7
    • Orlow, S.J.1
  • 57
    • 0344913942 scopus 로고
    • Studies of abnormal leukocyte bodies in the mink
    • Leader RW, Padgett GA, Gorham JR: Studies of abnormal leukocyte bodies in the mink. Blood 22:477-484, 1963
    • (1963) Blood , vol.22 , pp. 477-484
    • Leader, R.W.1    Padgett, G.A.2    Gorham, J.R.3
  • 58
    • 0009507162 scopus 로고
    • The familial occurrence of Chediak-Higashi syndrome in mink and cattle
    • Padgett GA, Leader RW, Gorham JR, O'Mary CC: The familial occurrence of Chediak-Higashi syndrome in mink and cattle. Genetics 49:505-512, 1964
    • (1964) Genetics , vol.49 , pp. 505-512
    • Padgett, G.A.1    Leader, R.W.2    Gorham, J.R.3    O'Mary, C.C.4
  • 61
    • 0345345203 scopus 로고
    • Norsk perlerevmutant med Chediak-Higashi-liknende syndrom
    • Nes N, Llium B, Sjaastad O, Blom A: Norsk perlerevmutant med Chediak-Higashi-liknende syndrom. Norsk Pelsdyrblad 59:325-328, 1985
    • (1985) Norsk Pelsdyrblad , vol.59 , pp. 325-328
    • Nes, N.1    Llium, B.2    Sjaastad, O.3    Blom, A.4
  • 63
    • 0344482686 scopus 로고
    • Light and electron microscopy of peripheral blood neutrophils in a killer whale affected with Chediak-Higashi syndrome
    • Taylor RF, Farrell RK: Light and electron microscopy of peripheral blood neutrophils in a killer whale affected with Chediak-Higashi syndrome. Fed Proc 32:822a, 1973
    • (1973) Fed Proc , vol.32
    • Taylor, R.F.1    Farrell, R.K.2
  • 64
    • 0014154576 scopus 로고
    • Giant granules in leukocytes of the beige mouse
    • Lutzner MA, Lowrie CT, Jordan HW: Giant granules in leukocytes of the beige mouse. J Hered 58:299-300, 1966
    • (1966) J Hered , vol.58 , pp. 299-300
    • Lutzner, M.A.1    Lowrie, C.T.2    Jordan, H.W.3
  • 69
    • 0015981392 scopus 로고
    • Granulocyte function in the Chediak-Higashi syndrome of mice
    • Gallin JI, Bujak JS, Patten E, Wolff SM: Granulocyte function in the Chediak-Higashi syndrome of mice. Blood 43:201-206, 1974
    • (1974) Blood , vol.43 , pp. 201-206
    • Gallin, J.I.1    Bujak, J.S.2    Patten, E.3    Wolff, S.M.4
  • 70
    • 0018677340 scopus 로고
    • The beige mutation in the mouse. I. A stem cell predetermined impairment in natural killer cell function
    • Roder JC: The beige mutation in the mouse. I. A stem cell predetermined impairment in natural killer cell function. J Immunol 123:2168-2173, 1979
    • (1979) J Immunol , vol.123 , pp. 2168-2173
    • Roder, J.C.1
  • 71
    • 0021250944 scopus 로고
    • Adaptive immune defects and delayed rejection of allogeneic tumor cells in beige mice
    • Carlson GA, Marshall ST, Truesdale AT: Adaptive immune defects and delayed rejection of allogeneic tumor cells in beige mice. Cell Immunol 87:348-356, 1984
    • (1984) Cell Immunol , vol.87 , pp. 348-356
    • Carlson, G.A.1    Marshall, S.T.2    Truesdale, A.T.3
  • 72
    • 0020063553 scopus 로고
    • Defective T-cell response in beige mutant mice
    • Saxena RK, Saxena QB, Adler WH: Defective T-cell response in beige mutant mice. Nature 295:240-241, 1982
    • (1982) Nature , vol.295 , pp. 240-241
    • Saxena, R.K.1    Saxena, Q.B.2    Adler, W.H.3
  • 73
    • 0015836208 scopus 로고
    • The Chediak-Higashi syndrome and the homologous trait in animals
    • Windhorst DB, Padgett B: The Chediak-Higashi syndrome and the homologous trait in animals. J Invest Dermatol 60:529-537, 1973
    • (1973) J Invest Dermatol , vol.60 , pp. 529-537
    • Windhorst, D.B.1    Padgett, B.2
  • 74
    • 0021321231 scopus 로고
    • Platelet storage pool deficiency in mouse pigment mutations associated with several distinct genetic loci
    • Novak EK, Hui S-W, Swank RT: Platelet storage pool deficiency in mouse pigment mutations associated with several distinct genetic loci. Blood 63:536-544, 1984
    • (1984) Blood , vol.63 , pp. 536-544
    • Novak, E.K.1    Hui, S.-W.2    Swank, R.T.3
  • 75
    • 0018858775 scopus 로고
    • Low natural in vivo resistance to syngeneic leukaemias in natural killer-deficient mice
    • Karre K, Klein GO, Kiessling R, Klein G, Roder JC: Low natural in vivo resistance to syngeneic leukaemias in natural killer-deficient mice. Nature 284:624-626, 1980
    • (1980) Nature , vol.284 , pp. 624-626
    • Karre, K.1    Klein, G.O.2    Kiessling, R.3    Klein, G.4    Roder, J.C.5
  • 76
    • 0018904051 scopus 로고
    • Role of NK cells in tumour growth and metastasis in beige mice
    • Talmadge JE, Meyers KM, Prieur DJ, Starkey JR: Role of NK cells in tumour growth and metastasis in beige mice. Nature 284:622-624, 1980
    • (1980) Nature , vol.284 , pp. 622-624
    • Talmadge, J.E.1    Meyers, K.M.2    Prieur, D.J.3    Starkey, J.R.4
  • 77
    • 0016817926 scopus 로고
    • Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice
    • Brandt EJ, Elliott RW, Swank RT: Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice. J Cell Biol 67:774-788, 1975
    • (1975) J Cell Biol , vol.67 , pp. 774-788
    • Brandt, E.J.1    Elliott, R.W.2    Swank, R.T.3
  • 78
    • 0017818881 scopus 로고
    • Turnover of kidney β-glucuronidase in normal and Chediak-Higashi (beige) mice
    • Swank RT, Brandt EJ: Turnover of kidney β-glucuronidase in normal and Chediak-Higashi (beige) mice. Am J Pathol 92:755-771, 1978
    • (1978) Am J Pathol , vol.92 , pp. 755-771
    • Swank, R.T.1    Brandt, E.J.2
  • 79
    • 0028274181 scopus 로고
    • Lysosomal enzyme activities in Chediak-Higashi syndrome: Evaluation of lymphoblastoid cell lines and review of the literature
    • Holcomhe RF, Jones KL, Stewart RM: Lysosomal enzyme activities in Chediak-Higashi syndrome: evaluation of lymphoblastoid cell lines and review of the literature, Immunodeficiency 5:131-140, 1994
    • (1994) Immunodeficiency , vol.5 , pp. 131-140
    • Holcomhe, R.F.1    Jones, K.L.2    Stewart, R.M.3
  • 81
    • 0029781458 scopus 로고    scopus 로고
    • Homozygosity mapping of the gene tor Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)
    • Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Burger J, Spritz RA: Homozygosity mapping of the gene tor Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet 59:620-624, 1996
    • (1996) Am J Hum Genet , vol.59 , pp. 620-624
    • Fukai, K.1    Oh, J.2    Karim, M.A.3    Moore, K.J.4    Kandil, H.H.5    Ito, H.6    Burger, J.7    Spritz, R.A.8
  • 83
    • 0027746217 scopus 로고
    • Complementation analysis of Chediak-Higashi syndrome: The same gene may be responsible for the defect in all patients and species
    • Perou CM, Kaplan J: Complementation analysis of Chediak-Higashi syndrome: The same gene may be responsible for the defect in all patients and species. Somat Cell Mol Genet 19:459-468, 1993
    • (1993) Somat Cell Mol Genet , vol.19 , pp. 459-468
    • Perou, C.M.1    Kaplan, J.2
  • 84
    • 0025972948 scopus 로고
    • Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes
    • Jenkins NA, Justice MJ, Gilbert DJ, Chu M-L, Copeland NG: Nidogen/entactin (Nid) maps to the proximal end of mouse chromosome 13 linked to beige (bg) and identifies a new region of homology between mouse and human chromosomes. Genomics 9:401-403, 1991
    • (1991) Genomics , vol.9 , pp. 401-403
    • Jenkins, N.A.1    Justice, M.J.2    Gilbert, D.J.3    Chu, M.-L.4    Copeland, N.G.5
  • 85
    • 0029905254 scopus 로고    scopus 로고
    • Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes
    • Perou CM, Justice MJ, Pryor RJ, Kaplan J: Complementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes. Proc Natl Acad Sci USA 93:5905-5909, 1996
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 5905-5909
    • Perou, C.M.1    Justice, M.J.2    Pryor, R.J.3    Kaplan, J.4
  • 87
    • 0030752986 scopus 로고    scopus 로고
    • Mutations in the Chediak-Higashi syndrome gene (CHSI) indicate requirement for the complete 3801 amino acid CHS protein
    • Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz RA: Mutations in the Chediak-Higashi syndrome gene (CHSI) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet 6:1087-1089, 1997
    • (1997) Hum Mol Genet , vol.6 , pp. 1087-1089
    • Karim, M.A.1    Nagle, D.L.2    Kandil, H.H.3    Bürger, J.4    Moore, K.J.5    Spritz, R.A.6
  • 88
    • 0028266975 scopus 로고
    • A repeating amino acid motif shared by proteins with diverse cellular roles
    • Peifer M, Berg S, Reynolds AB: A repeating amino acid motif shared by proteins with diverse cellular roles. Cell 76:789-791, 1994
    • (1994) Cell , vol.76 , pp. 789-791
    • Peifer, M.1    Berg, S.2    Reynolds, A.B.3
  • 89
    • 0029392854 scopus 로고
    • HEAT repeats in the Huntington's disease protein
    • Andrade MA, Bork P: HEAT repeats in the Huntington's disease protein. Nature Genet 11:115-116, 1995
    • (1995) Nature Genet , vol.11 , pp. 115-116
    • Andrade, M.A.1    Bork, P.2
  • 90
    • 0028076764 scopus 로고
    • The ancient regulatory-protein family of WD-repeat proteins
    • Neer EJ, Schmidt CJ, Nambudripad R, Smith TF: The ancient regulatory-protein family of WD-repeat proteins. Nature 371: 297-300, 1994
    • (1994) Nature , vol.371 , pp. 297-300
    • Neer, E.J.1    Schmidt, C.J.2    Nambudripad, R.3    Smith, T.F.4
  • 91
    • 0025255677 scopus 로고
    • A new class of lysosomal/vacuolar protein sorting signals
    • Klionsky DJ, Emr SD: A new class of lysosomal/vacuolar protein sorting signals. J Biol Chem 265:5349-5352, 1990
    • (1990) J Biol Chem , vol.265 , pp. 5349-5352
    • Klionsky, D.J.1    Emr, S.D.2
  • 92
    • 0027256130 scopus 로고
    • A membrane-associated complex containing the Vps15 protein kinase and the VPS34 PI 3-kinase is essential for protein sorting to the yeast lysosome-like vacuole
    • Stack JH, Herman PK, Schu PV, Emr SD: A membrane-associated complex containing the Vps15 protein kinase and the VPS34 PI 3-kinase is essential for protein sorting to the yeast lysosome-like vacuole. EMBO J 12:2195-2204, 1993
    • (1993) EMBO J , vol.12 , pp. 2195-2204
    • Stack, J.H.1    Herman, P.K.2    Schu, P.V.3    Emr, S.D.4
  • 93
    • 0026086456 scopus 로고
    • A genetic and structural analysis of the yeast Vps15 protein kinase: Evidence for a direct role of VPS15p in vacuolar protein delivery
    • Herman PK, Stack JH, Emr SD: A genetic and structural analysis of the yeast Vps15 protein kinase: evidence for a direct role of VPS15p in vacuolar protein delivery. EMBO J 10:4049-4060, 1991
    • (1991) EMBO J , vol.10 , pp. 4049-4060
    • Herman, P.K.1    Stack, J.H.2    Emr, S.D.3
  • 94
    • 0030693642 scopus 로고    scopus 로고
    • The beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein
    • Perou CM, Leslie JD, Green W, Li L, McVey Ward D, Kaplan J: The beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem 272:29790-29794, 1997
    • (1997) J Biol Chem , vol.272 , pp. 29790-29794
    • Perou, C.M.1    Leslie, J.D.2    Green, W.3    Li, L.4    McVey Ward, D.5    Kaplan, J.6
  • 96
    • 0027476355 scopus 로고
    • Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant)
    • Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C: Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant). Prenatal Diagn 13:13-20, 1993
    • (1993) Prenatal Diagn , vol.13 , pp. 13-20
    • Durandy, A.1    Breton-Gorius, J.2    Guy-Grand, D.3    Dumez, C.4    Griscelli, C.5
  • 98
    • 0017252922 scopus 로고
    • Chediak-Higashi syndrome: Reversal of increased susceptibility to infection by bone marrow transplantation
    • Kazmierowski JA, Elin RJ, Reynolds HY: Chediak-Higashi syndrome: Reversal of increased susceptibility to infection by bone marrow transplantation. Blood 47:555-559, 1975
    • (1975) Blood , vol.47 , pp. 555-559
    • Kazmierowski, J.A.1    Elin, R.J.2    Reynolds, H.Y.3
  • 99
    • 0020493207 scopus 로고
    • Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone marrow transplantation
    • Virelizier JL, Lagrue A, Durandy A, Arenzana F, Oury C, Griscelli C, Reinert P: Reversal of natural killer defect in a patient with Chediak-Higashi syndrome after bone marrow transplantation. Lancet 306:1055-1056, 1982
    • (1982) Lancet , vol.306 , pp. 1055-1056
    • Virelizier, J.L.1    Lagrue, A.2    Durandy, A.3    Arenzana, F.4    Oury, C.5    Griscelli, C.6    Reinert, P.7
  • 100
    • 0026740611 scopus 로고
    • Unrelated donor bone marrow transplantation for correction of lethal congenital immunodeficiencies
    • Filipovich AH, Shapiro RS, Ramsay NKC, Kim T, Blazar B, Kersey J, McGlave P: Unrelated donor bone marrow transplantation for correction of lethal congenital immunodeficiencies. Blood 80:270-276, 1992
    • (1992) Blood , vol.80 , pp. 270-276
    • Filipovich, A.H.1    Shapiro, R.S.2    Ramsay, N.K.C.3    Kim, T.4    Blazar, B.5    Kersey, J.6    McGlave, P.7
  • 102
    • 0028888895 scopus 로고
    • Allogeneic bone marrow transplantation in Chediak-Higashi syndrome
    • Mottonen M, Lanning M, Saarinen UM: Allogeneic bone marrow transplantation in Chediak-Higashi syndrome. Pediatr Hematol Oncol 12:55-59, 1995
    • (1995) Pediatr Hematol Oncol , vol.12 , pp. 55-59
    • Mottonen, M.1    Lanning, M.2    Saarinen, U.M.3
  • 103
    • 0027445493 scopus 로고
    • Partial engraftment of donor bone marrow cells associated with long-term remission of hemophagocytic lymphohistiocytosis
    • Landman-Parker J, Le Deist F, Biaise A, Brison O, Fischer A: Partial engraftment of donor bone marrow cells associated with long-term remission of hemophagocytic lymphohistiocytosis. Br J Haematol 85:37-41, 1993
    • (1993) Br J Haematol , vol.85 , pp. 37-41
    • Landman-Parker, J.1    Le Deist, F.2    Biaise, A.3    Brison, O.4    Fischer, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.