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Volumn 14, Issue , 2008, Pages 774-781

Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LYSINE; METHIONINE; MYOCILIN; THREONINE;

EID: 43149120490     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (36)
  • 1
    • 0034503353 scopus 로고    scopus 로고
    • The glaucoma mystery from ancient times to the 21st century. The glaucoma mystery: Ancient concepts
    • Frezzotti R. The glaucoma mystery from ancient times to the 21st century. The glaucoma mystery: ancient concepts. Acta Ophthalmol Scand Suppl 2000; (232):14-8.
    • (2000) Acta Ophthalmol Scand Suppl , vol.232 , pp. 14-18
    • Frezzotti, R.1
  • 2
    • 10944256217 scopus 로고    scopus 로고
    • Epidemiology of Glaucoma
    • Morrison JC, Pollack IP, editors, 1st ed. New York: Thieme;
    • Coleman AL. Epidemiology of Glaucoma. In: Morrison JC, Pollack IP, editors. Glaucoma Science and Practice. 1st ed. New York: Thieme; 2002. p. 2-11.
    • (2002) Glaucoma Science and Practice , pp. 2-11
    • Coleman, A.L.1
  • 3
    • 0027987077 scopus 로고
    • The prevalence of primary open-angle glaucoma in a population-based study in The Netherlands. The Rotterdam Study
    • Dielemans I, Vingerling JR, Wolfs RC, Hofman A, Grobbee DE, de Jong PT. The prevalence of primary open-angle glaucoma in a population-based study in The Netherlands. The Rotterdam Study. Ophthalmology 1994; 101:1851-5.
    • (1994) Ophthalmology , vol.101 , pp. 1851-1855
    • Dielemans, I.1    Vingerling, J.R.2    Wolfs, R.C.3    Hofman, A.4    Grobbee, D.E.5    de Jong, P.T.6
  • 5
    • 0024791688 scopus 로고
    • Pseudoexfoliation glaucoma in Greece
    • Konstas AG, Allan D. Pseudoexfoliation glaucoma in Greece. Eye 1989; 3:747-53.
    • (1989) Eye , vol.3 , pp. 747-753
    • Konstas, A.G.1    Allan, D.2
  • 6
    • 0029966460 scopus 로고    scopus 로고
    • Epidemiology of glaucoma in northern Europe
    • Ringvold A. Epidemiology of glaucoma in northern Europe. Eur J Ophthalmol 1996; 6:26-9.
    • (1996) Eur J Ophthalmol , vol.6 , pp. 26-29
    • Ringvold, A.1
  • 12
    • 17844383954 scopus 로고    scopus 로고
    • Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma
    • Puska P, Lemmela S, Kristo P, Sankila EM, Jarvela I. Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. Ophthalmic Genet 2005; 26:17-23.
    • (2005) Ophthalmic Genet , vol.26 , pp. 17-23
    • Puska, P.1    Lemmela, S.2    Kristo, P.3    Sankila, E.M.4    Jarvela, I.5
  • 13
    • 0346670121 scopus 로고    scopus 로고
    • Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients
    • Kanagavalli J, Krishnadas SR, Pandaranayaka E, Krishnaswamy S, Sundaresan P. Evaluation and understanding of myocilin mutations in Indian primary open angle glaucoma patients. Mol Vis 2003; 9:606-14.
    • (2003) Mol Vis , vol.9 , pp. 606-614
    • Kanagavalli, J.1    Krishnadas, S.R.2    Pandaranayaka, E.3    Krishnaswamy, S.4    Sundaresan, P.5
  • 20
    • 17344372403 scopus 로고    scopus 로고
    • Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam MF, Garchon HJ, Pitts Crick R, Sarfarazi M. Novel TIGR/ MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet 1998; 35:989-92.
    • Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Ozdemir N, Chevrette L, Adam MF, Garchon HJ, Pitts Crick R, Sarfarazi M. Novel TIGR/ MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet 1998; 35:989-92.
  • 21
    • 43149123229 scopus 로고    scopus 로고
    • Andrikopoulos GK, Mela EK, Georgakopoulos CD, Papadopoulos GE, Damelou AN, Alexopoulos DK, Gartaganis SP. Pseudoexfoliation syndrome prevalence in Greek patients with cataract and its association to glaucoma and coronary artery disease. Eye. 2007
    • Andrikopoulos GK, Mela EK, Georgakopoulos CD, Papadopoulos GE, Damelou AN, Alexopoulos DK, Gartaganis SP. Pseudoexfoliation syndrome prevalence in Greek patients with cataract and its association to glaucoma and coronary artery disease. Eye. 2007
  • 23
    • 34250777931 scopus 로고    scopus 로고
    • Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma
    • Wirtz MK, Samples JR, Choi D, Gaudette ND. Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. Am J Ophthalmol 2007; 144:75-80.
    • (2007) Am J Ophthalmol , vol.144 , pp. 75-80
    • Wirtz, M.K.1    Samples, J.R.2    Choi, D.3    Gaudette, N.D.4
  • 25
    • 43149083597 scopus 로고    scopus 로고
    • Pseudoexfoliation syndrome and glaucoma
    • Morrison JC, Pollack IP, editors, 1st ed. New York: Thieme;
    • Johnson DH. Pseudoexfoliation syndrome and glaucoma. In: Morrison JC, Pollack IP, editors. Glaucoma: science and practice. 1st ed. New York: Thieme; 2003. p. 215-25.
    • (2003) Glaucoma: Science and practice , pp. 215-225
    • Johnson, D.H.1
  • 27
    • 31944440306 scopus 로고    scopus 로고
    • A myocilin Gln369STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases
    • Hewitt AW, Bennett SL, Dimasi DP, Craig JE, Mackey DA. A myocilin Gln369STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases. Am J Ophthalmol 2006; 141:402-3.
    • (2006) Am J Ophthalmol , vol.141 , pp. 402-403
    • Hewitt, A.W.1    Bennett, S.L.2    Dimasi, D.P.3    Craig, J.E.4    Mackey, D.A.5
  • 29
    • 0033358533 scopus 로고    scopus 로고
    • Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea
    • Yoon SJ, Kim HS, Moon JI, Lim JM, Joo CK. Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. Am J Hum Genet 1999; 64:1775-8.
    • (1999) Am J Hum Genet , vol.64 , pp. 1775-1778
    • Yoon, S.J.1    Kim, H.S.2    Moon, J.I.3    Lim, J.M.4    Joo, C.K.5
  • 31
    • 0037334895 scopus 로고    scopus 로고
    • One-thousand-and-one substrates of protein kinase CK2?
    • Meggio F, Pinna LA. One-thousand-and-one substrates of protein kinase CK2? FASEB J 2003; 17:349-68.
    • (2003) FASEB J , vol.17 , pp. 349-368
    • Meggio, F.1    Pinna, L.A.2
  • 33
    • 0035451226 scopus 로고    scopus 로고
    • A conserved helix-unfolding motif in the naturally unfolded proteins
    • Zetina CR. A conserved helix-unfolding motif in the naturally unfolded proteins. Proteins 2001; 44:479-83.
    • (2001) Proteins , vol.44 , pp. 479-483
    • Zetina, C.R.1
  • 35
    • 33746696771 scopus 로고    scopus 로고
    • Functional analysis of the glaucoma-causing TIGR/myocilin protein: Integrity of N-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion
    • Gobeil S, Letartre L, Raymond V. Functional analysis of the glaucoma-causing TIGR/myocilin protein: Integrity of N-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion. Exp Eye Res 2006; 82:1017-29.
    • (2006) Exp Eye Res , vol.82 , pp. 1017-1029
    • Gobeil, S.1    Letartre, L.2    Raymond, V.3
  • 36
    • 0032725031 scopus 로고    scopus 로고
    • A cellular assay distinguishes normal and mutant TIGR/myocilin protein
    • Zhou Z, Vollrath D. A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet 1999; 8:2221-8.
    • (1999) Hum Mol Genet , vol.8 , pp. 2221-2228
    • Zhou, Z.1    Vollrath, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.