메뉴 건너뛰기




Volumn 50, Issue 3, 2009, Pages 1205-1214

Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; LYST PROTEIN, MOUSE; PROTEIN;

EID: 62649089753     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-2791     Document Type: Article
Times cited : (41)

References (61)
  • 1
    • 77649102680 scopus 로고    scopus 로고
    • Pseudoexfoliative glaucoma
    • Yanoff M, Duker JS, eds, St Louis: Mosby;
    • Lahners W, Samuelson TW. Pseudoexfoliative glaucoma. In: Yanoff M, Duker JS, eds. Ophthalmology. St Louis: Mosby; 2004:1499-1503.
    • (2004) Ophthalmology , pp. 1499-1503
    • Lahners, W.1    Samuelson, T.W.2
  • 2
    • 0035095774 scopus 로고    scopus 로고
    • Exfoliation (pseudoexfoliation) syndrome: Toward a new understanding. Proceedings of the First International Think Tank
    • Ritch R, Schlotzer-Schrehardt U. Exfoliation (pseudoexfoliation) syndrome: toward a new understanding. Proceedings of the First International Think Tank. Acta Ophthalmol Scand. 2001;79:213-217.
    • (2001) Acta Ophthalmol Scand , vol.79 , pp. 213-217
    • Ritch, R.1    Schlotzer-Schrehardt, U.2
  • 4
  • 5
    • 0033996206 scopus 로고    scopus 로고
    • Exfoliation syndrome and exfoliation glaucoma
    • Vesti E, Kivel AT. Exfoliation syndrome and exfoliation glaucoma. Prog Retin Eye Res. 2000;19:345-368.
    • (2000) Prog Retin Eye Res , vol.19 , pp. 345-368
    • Vesti, E.1    Kivel, A.T.2
  • 7
    • 0029951297 scopus 로고    scopus 로고
    • A unification hypothesis of pigment dispersion syndrome
    • discussion 405-409
    • Ritch R. A unification hypothesis of pigment dispersion syndrome. Trans Am Ophthalmol Soc. 1996;94:381-405; discussion 405-409.
    • (1996) Trans Am Ophthalmol Soc , vol.94 , pp. 381-405
    • Ritch, R.1
  • 8
    • 0018961266 scopus 로고
    • On the ultrastructure and the formation of pseudoexfoliation material
    • Davanger M. On the ultrastructure and the formation of pseudoexfoliation material. Acta Ophthalmol (Copenh). 1980;58:520-527.
    • (1980) Acta Ophthalmol (Copenh) , vol.58 , pp. 520-527
    • Davanger, M.1
  • 10
    • 0026577945 scopus 로고
    • Immunohistochemical localization of basement membrane components in pseudoexfoliation material of the lens capsule
    • Schlotzer-Schrehardt U, Dorfler S, Naumann GO. Immunohistochemical localization of basement membrane components in pseudoexfoliation material of the lens capsule. Curr Eye Res. 1992;11:343-355.
    • (1992) Curr Eye Res , vol.11 , pp. 343-355
    • Schlotzer-Schrehardt, U.1    Dorfler, S.2    Naumann, G.O.3
  • 11
    • 0035699088 scopus 로고    scopus 로고
    • Role of transforming growth factor-beta 1 and its latent form binding protein in pseudoexfoliation syndrome
    • Schlotzer-Schrehardt U, Zenkel M, Kuchle M, Sakai LY, Naumann GO. Role of transforming growth factor-beta 1 and its latent form binding protein in pseudoexfoliation syndrome. Exp Eye Res. 2001;73:765-780.
    • (2001) Exp Eye Res , vol.73 , pp. 765-780
    • Schlotzer-Schrehardt, U.1    Zenkel, M.2    Kuchle, M.3    Sakai, L.Y.4    Naumann, G.O.5
  • 12
    • 0033278168 scopus 로고    scopus 로고
    • Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland
    • Gottfredsdottir MS, Sverrisson T, Musch DC, Stefansson E. Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. J Glaucoma. 1999;8:134-139.
    • (1999) J Glaucoma , vol.8 , pp. 134-139
    • Gottfredsdottir, M.S.1    Sverrisson, T.2    Musch, D.C.3    Stefansson, E.4
  • 14
    • 34548694283 scopus 로고    scopus 로고
    • Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
    • Thorleifsson G, Magnusson KP, Sulem P, et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007;317:1397-1400.
    • (2007) Science , vol.317 , pp. 1397-1400
    • Thorleifsson, G.1    Magnusson, K.P.2    Sulem, P.3
  • 15
    • 36248931611 scopus 로고    scopus 로고
    • LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States
    • Fingert JH, Alward WL, Kwon YH, et al. LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol. 2007;144:974-975.
    • (2007) Am J Ophthalmol , vol.144 , pp. 974-975
    • Fingert, J.H.1    Alward, W.L.2    Kwon, Y.H.3
  • 16
    • 39749149076 scopus 로고    scopus 로고
    • Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people
    • Hewitt AW, Sharma S, Burdon KP, et al. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum Mol Genet. 2008;17:710-716.
    • (2008) Hum Mol Genet , vol.17 , pp. 710-716
    • Hewitt, A.W.1    Sharma, S.2    Burdon, K.P.3
  • 17
    • 39049133729 scopus 로고    scopus 로고
    • Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population
    • Hayashi H, Gotoh N, Ueda Y, Nakanishi H, Yoshimura N. Lysyl oxidase-like 1 polymorphisms and exfoliation syndrome in the Japanese population. Am J Ophthalmol. 2008;145:582-585.
    • (2008) Am J Ophthalmol , vol.145 , pp. 582-585
    • Hayashi, H.1    Gotoh, N.2    Ueda, Y.3    Nakanishi, H.4    Yoshimura, N.5
  • 18
    • 41149152254 scopus 로고    scopus 로고
    • DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity
    • Fan BJ, Pasquale L, Grosskreutz CL, et al. DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet. 2008;9:5.
    • (2008) BMC Med Genet , vol.9 , pp. 5
    • Fan, B.J.1    Pasquale, L.2    Grosskreutz, C.L.3
  • 19
    • 40549131035 scopus 로고    scopus 로고
    • Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort
    • Yang X, Zabriskie NA, Hau VS, et al. Genetic association of LOXL1 gene variants and exfoliation glaucoma in a Utah cohort. Cell Cycle. 2008;7:521-524.
    • (2008) Cell Cycle , vol.7 , pp. 521-524
    • Yang, X.1    Zabriskie, N.A.2    Hau, V.S.3
  • 20
    • 38849142513 scopus 로고    scopus 로고
    • Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma
    • Challa P, Schmidt S, Liu Y, et al. Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma. Mol Vis. 2008;14:146-149.
    • (2008) Mol Vis , vol.14 , pp. 146-149
    • Challa, P.1    Schmidt, S.2    Liu, Y.3
  • 21
    • 39549105147 scopus 로고    scopus 로고
    • Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India
    • Ramprasad VL, George R, Soumittra N, Sharmila F, Vijaya L, Kumaramanickavel G. Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India. Mol Vis. 2008;14:318-322.
    • (2008) Mol Vis , vol.14 , pp. 318-322
    • Ramprasad, V.L.1    George, R.2    Soumittra, N.3    Sharmila, F.4    Vijaya, L.5    Kumaramanickavel, G.6
  • 22
    • 45549095460 scopus 로고    scopus 로고
    • Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma
    • Pasutto F, Krumbiegel M, Mardin CY, et al. Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci. 2008;49:1459-1463.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 1459-1463
    • Pasutto, F.1    Krumbiegel, M.2    Mardin, C.Y.3
  • 23
    • 43949113250 scopus 로고    scopus 로고
    • Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population
    • Mossbock G, Renner W, Faschinger C, Schmut O, Wedrich A, Weger M. Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. Mol Vis. 2008;14:857-861.
    • (2008) Mol Vis , vol.14 , pp. 857-861
    • Mossbock, G.1    Renner, W.2    Faschinger, C.3    Schmut, O.4    Wedrich, A.5    Weger, M.6
  • 24
    • 45349096404 scopus 로고    scopus 로고
    • LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population
    • Mori K, Imai K, Matsuda A, et al. LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. Mol Vis. 2008;14:1037-1040.
    • (2008) Mol Vis , vol.14 , pp. 1037-1040
    • Mori, K.1    Imai, K.2    Matsuda, A.3
  • 26
    • 0347579848 scopus 로고    scopus 로고
    • A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve
    • Smith RS, Korb D, John SW. A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve. Mol Vis. 2002;8:26-31.
    • (2002) Mol Vis , vol.8 , pp. 26-31
    • Smith, R.S.1    Korb, D.2    John, S.W.3
  • 27
    • 34548531621 scopus 로고    scopus 로고
    • Intraocular pressure measurement in mice: A comparison between Goldmann and rebound tonometry
    • Kim CY, Kuehn MH, Anderson MG, Kwon YH. Intraocular pressure measurement in mice: a comparison between Goldmann and rebound tonometry. Eye. 2007;21:1202-1209.
    • (2007) Eye , vol.21 , pp. 1202-1209
    • Kim, C.Y.1    Kuehn, M.H.2    Anderson, M.G.3    Kwon, Y.H.4
  • 28
    • 15444365951 scopus 로고    scopus 로고
    • General and special histopathology
    • Smith RS, ed, Boca Raton: CRC Press;
    • Smith R, Zabaleta A, John S, et al. General and special histopathology. In: Smith RS, ed. Systemic Evaluation of the Mouse Eye. Boca Raton: CRC Press; 2002:265-297.
    • (2002) Systemic Evaluation of the Mouse Eye , pp. 265-297
    • Smith, R.1    Zabaleta, A.2    John, S.3
  • 29
    • 15444363036 scopus 로고    scopus 로고
    • High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma
    • Anderson MG, Libby RT, Gould DB, Smith RS, John SW. High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma. Proc Natl Acad Sci U S A. 2005;102:4566-4571.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 4566-4571
    • Anderson, M.G.1    Libby, R.T.2    Gould, D.B.3    Smith, R.S.4    John, S.W.5
  • 30
    • 77955614345 scopus 로고    scopus 로고
    • Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage
    • Libby RT, Li Y, Savinova OV, et al. Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage. PLoS Genet. 2005;1:17-26.
    • (2005) PLoS Genet , vol.1 , pp. 17-26
    • Libby, R.T.1    Li, Y.2    Savinova, O.V.3
  • 31
    • 0018652682 scopus 로고
    • Ocular manifestations of the Chediak-Higashi syndrome in four species of animals
    • Collier LL, Bryan GM, Prieur DJ. Ocular manifestations of the Chediak-Higashi syndrome in four species of animals. J Am Vet Med Assoc. 1979;175:587-590.
    • (1979) J Am Vet Med Assoc , vol.175 , pp. 587-590
    • Collier, L.L.1    Bryan, G.M.2    Prieur, D.J.3
  • 32
    • 0021134020 scopus 로고
    • Ocular melanin pigmentation anomalies in cats, cattle, mink, and mice with Chediak-Higashi syndrome: Histologic observations
    • Collier LL, Prieur DJ, King EJ. Ocular melanin pigmentation anomalies in cats, cattle, mink, and mice with Chediak-Higashi syndrome: histologic observations. Curr Eye Res. 1984;3:1241-1251.
    • (1984) Curr Eye Res , vol.3 , pp. 1241-1251
    • Collier, L.L.1    Prieur, D.J.2    King, E.J.3
  • 33
    • 0017083655 scopus 로고
    • Light-induced alterations of retinal pigment epithelium in black, albino, and beige mice
    • Robison WG Jr, Kuwabara T. Light-induced alterations of retinal pigment epithelium in black, albino, and beige mice. Exp Eye Res. 1976;22:549-557.
    • (1976) Exp Eye Res , vol.22 , pp. 549-557
    • Robison Jr, W.G.1    Kuwabara, T.2
  • 34
    • 0016690356 scopus 로고
    • Lysosomes and melanin granules of the retinal pigment epithelium in a mouse model of the Chediak-Higashi syndrome
    • Robison WG Jr, Kuwabara T, Cogan DG. Lysosomes and melanin granules of the retinal pigment epithelium in a mouse model of the Chediak-Higashi syndrome. Invest Ophthalmol. 1975;14:312-317.
    • (1975) Invest Ophthalmol , vol.14 , pp. 312-317
    • Robison Jr, W.G.1    Kuwabara, T.2    Cogan, D.G.3
  • 35
    • 33644649452 scopus 로고    scopus 로고
    • Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25
    • Runkel F, Bussow H, Seburn KL, et al. Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25. Mamm Genome. 2006;17:203-210.
    • (2006) Mamm Genome , vol.17 , pp. 203-210
    • Runkel, F.1    Bussow, H.2    Seburn, K.L.3
  • 36
    • 0019433766 scopus 로고
    • The ocular pigmentary disturbance of human Chediak-Higashi syndrome: A comparative light- and electron-microscopic study and review of the literature
    • Valenzuela R, Morningstar WA. The ocular pigmentary disturbance of human Chediak-Higashi syndrome: a comparative light- and electron-microscopic study and review of the literature. Am J Clin Pathol. 1981;75:591-596.
    • (1981) Am J Clin Pathol , vol.75 , pp. 591-596
    • Valenzuela, R.1    Morningstar, W.A.2
  • 38
    • 0036334266 scopus 로고    scopus 로고
    • Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice
    • Anderson MG, Smith RS, Hawes NL, et al. Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet. 2002;30:81-85.
    • (2002) Nat Genet , vol.30 , pp. 81-85
    • Anderson, M.G.1    Smith, R.S.2    Hawes, N.L.3
  • 39
    • 0032773750 scopus 로고    scopus 로고
    • Iris transillumination defects in the pigment dispersion syndrome as detected with infrared videography: A comparison between a group of blacks and a group of nonblacks
    • Roberts DK, Chaglasian MA, Meetz RE. Iris transillumination defects in the pigment dispersion syndrome as detected with infrared videography: a comparison between a group of blacks and a group of nonblacks. Optom Vis Sci. 1999;76:544-549.
    • (1999) Optom Vis Sci , vol.76 , pp. 544-549
    • Roberts, D.K.1    Chaglasian, M.A.2    Meetz, R.E.3
  • 40
    • 0026357555 scopus 로고    scopus 로고
    • Foos RY. Iris in pseudoexfoliation. Ophthalmology. 1991;98:1486-1487.
    • Foos RY. Iris in pseudoexfoliation. Ophthalmology. 1991;98:1486-1487.
  • 41
    • 0025102533 scopus 로고
    • Generalized peripheral iris transluminance in the pseudoexfoliation syndrome
    • Repo LP, Terasvirta ME, Tuovinen EJ. Generalized peripheral iris transluminance in the pseudoexfoliation syndrome. Ophthalmology. 1990;97:1027-1029.
    • (1990) Ophthalmology , vol.97 , pp. 1027-1029
    • Repo, L.P.1    Terasvirta, M.E.2    Tuovinen, E.J.3
  • 42
    • 0029147901 scopus 로고
    • A histopathologic study of iris changes in pseudoexfoliation syndrome
    • Asano N, Schlotzer-Schrehardt U, Naumann GO. A histopathologic study of iris changes in pseudoexfoliation syndrome. Ophthalmology. 1995;102:1279-1290.
    • (1995) Ophthalmology , vol.102 , pp. 1279-1290
    • Asano, N.1    Schlotzer-Schrehardt, U.2    Naumann, G.O.3
  • 44
    • 0001891473 scopus 로고    scopus 로고
    • The anterior segment and ocular adnexae
    • Smith RS, ed, Boca Raton: CRC Press;
    • Smith RS. The anterior segment and ocular adnexae. In: Smith RS, ed. Systemic Evaluation of the Mouse Eye. Boca Raton: CRC Press; 2002:366.
    • (2002) Systemic Evaluation of the Mouse Eye , pp. 366
    • Smith, R.S.1
  • 45
    • 44949145785 scopus 로고    scopus 로고
    • Choroid, lens, and vitreous
    • Smith RS, ed, Boca Raton: CRC Press;
    • Smith RS. Choroid, lens, and vitreous. In: Smith RS, ed. Systemic Evaluation of the Mouse Eye. Boca Raton: CRC Press; 2002:161-193.
    • (2002) Systemic Evaluation of the Mouse Eye , pp. 161-193
    • Smith, R.S.1
  • 46
    • 77649158685 scopus 로고    scopus 로고
    • Lane PW. Bg〈2J〉 - beige-2J. Mouse News Lett. 1962;26:35.
    • Lane PW. Bg〈2J〉 - beige-2J. Mouse News Lett. 1962;26:35.
  • 48
    • 34249001458 scopus 로고    scopus 로고
    • Cell adhesion to fibrillin-1: Identification of an Arg-Gly-Asp-dependent synergy region and a heparin-binding site that regulates focal adhesion formation
    • Bax DV, Mahalingam Y, Cain S, et al. Cell adhesion to fibrillin-1: identification of an Arg-Gly-Asp-dependent synergy region and a heparin-binding site that regulates focal adhesion formation. J Cell Sci. 2007;120:1383-1392.
    • (2007) J Cell Sci , vol.120 , pp. 1383-1392
    • Bax, D.V.1    Mahalingam, Y.2    Cain, S.3
  • 49
    • 1842527147 scopus 로고    scopus 로고
    • Chu ML, Tsuda T. Fibulins in development and heritable disease. Birth Defects Res C Embryo Today. 2004;72:25-36.
    • Chu ML, Tsuda T. Fibulins in development and heritable disease. Birth Defects Res C Embryo Today. 2004;72:25-36.
  • 50
    • 33746943302 scopus 로고    scopus 로고
    • Elastic fibres in health and disease
    • Kielty CM. Elastic fibres in health and disease. Expert Rev Mol Med. 2006;8:1-23.
    • (2006) Expert Rev Mol Med , vol.8 , pp. 1-23
    • Kielty, C.M.1
  • 52
    • 0036253771 scopus 로고    scopus 로고
    • The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins
    • Tchernev VT, Mansfield TA, Giot L, et al. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. Mol Med. 2002;8:56-64.
    • (2002) Mol Med , vol.8 , pp. 56-64
    • Tchernev, V.T.1    Mansfield, T.A.2    Giot, L.3
  • 53
    • 15844397403 scopus 로고    scopus 로고
    • Identification of the homologous beige and Chediak-Higashi syndrome genes
    • Barbosa MD, Nguyen QA, Tchernev VT, et al. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature. 1996;382:262-265.
    • (1996) Nature , vol.382 , pp. 262-265
    • Barbosa, M.D.1    Nguyen, Q.A.2    Tchernev, V.T.3
  • 55
    • 0035989918 scopus 로고    scopus 로고
    • Chediak-Higashi syndrome: A rare disorder of lysosomes and lysosome related organelles
    • Shiflett SL, Kaplan J, Ward DM. Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles. Pigment Cell Res. 2002;15:251-257.
    • (2002) Pigment Cell Res , vol.15 , pp. 251-257
    • Shiflett, S.L.1    Kaplan, J.2    Ward, D.M.3
  • 56
    • 0038824131 scopus 로고    scopus 로고
    • Use of expression constructs to dissect the functional domains of the CHS/beige protein: Identification of multiple phenotypes
    • Ward DM, Shiflett SL, Huynh D, Vaughn MB, Prestwich G, Kaplan J. Use of expression constructs to dissect the functional domains of the CHS/beige protein: identification of multiple phenotypes. Traffic. 2003;4:403-415.
    • (2003) Traffic , vol.4 , pp. 403-415
    • Ward, D.M.1    Shiflett, S.L.2    Huynh, D.3    Vaughn, M.B.4    Prestwich, G.5    Kaplan, J.6
  • 57
    • 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, Ward DM, Kaplan J. The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem. 1997;272:29790-29794.
    • (1997) J Biol Chem , vol.272 , pp. 29790-29794
    • Perou, C.M.1    Leslie, J.D.2    Green, W.3    Li, L.4    Ward, D.M.5    Kaplan, J.6
  • 58
    • 18244405827 scopus 로고    scopus 로고
    • Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
    • Karim MA, Suzuki K, Fukai K, et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet. 2002;108:16-22.
    • (2002) Am J Med Genet , vol.108 , pp. 16-22
    • Karim, M.A.1    Suzuki, K.2    Fukai, K.3
  • 59
    • 0028182710 scopus 로고
    • Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia
    • Uyama E, Hirano T, Ito K, et al. Adult Chediak-Higashi syndrome presenting as parkinsonism and dementia. Acta Neurol Scand. 1994;89:175-183.
    • (1994) Acta Neurol Scand , vol.89 , pp. 175-183
    • Uyama, E.1    Hirano, T.2    Ito, K.3
  • 60
    • 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 U S A. 1996;93:5905-5909.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 5905-5909
    • Perou, C.M.1    Justice, M.J.2    Pryor, R.J.3    Kaplan, J.4
  • 61
    • 33747791698 scopus 로고    scopus 로고
    • A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration
    • Rudelius M, Osanger A, Kohlmann S, et al. A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration. Acta Neuropathol (Berl). 2006;112:267-276.
    • (2006) Acta Neuropathol (Berl) , vol.112 , pp. 267-276
    • Rudelius, M.1    Osanger, A.2    Kohlmann, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.