메뉴 건너뛰기




Volumn 63, Issue 5, 1998, Pages 1549-1552

Prevalence of mutations in TIGR/myocilin in patients with adult and juvenile primary open-angle glaucoma [2]

Author keywords

[No Author keywords available]

Indexed keywords

AQUEOUS HUMOR FORMATION; GENE LOCUS; GENE MAPPING; GENETIC RISK; HUMAN; INTRAOCULAR PRESSURE; LETTER; MUTATION; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL;

EID: 0032231625     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302098     Document Type: Letter
Times cited : (198)

References (23)
  • 1
    • 9844252339 scopus 로고    scopus 로고
    • Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
    • MF Adam A Belmouden P Binisti AP Brézin F Valtot A Béchetoille J-C Dascotte Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma Hum Mol Genet 6 1997 2091 2097
    • (1997) Hum Mol Genet , vol.6 , pp. 2091-2097
    • Adam, MF1    Belmouden, A2    Binisti, P3    Brézin, AP4    Valtot, F5    Béchetoille, A6    Dascotte, J-C7
  • 2
    • 17944385621 scopus 로고    scopus 로고
    • Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
    • WLM Alward JH Fingert MA Coote AT Johnson SF Lerner D Junqua FJ Durcan Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene ( GLC1A ) N Engl J Med 338 1998 1022 1027
    • (1998) N Engl J Med , vol.338 , pp. 1022-1027
    • Alward, WLM1    Fingert, JH2    Coote, MA3    Johnson, AT4    Lerner, SF5    Junqua, D6    Durcan, FJ7
  • 3
    • 0030468077 scopus 로고    scopus 로고
    • Exclusion of one pedigree affected by adult-onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q221-q31
    • D Avramopoulos G Kitsos E Economou-Petersen M Grigoriadou D Vassilopoulos C Papageorgiou K Psilas Exclusion of one pedigree affected by adult-onset primary open angle glaucoma from linkage to the juvenile glaucoma locus on chromosome 1q221-q31 J Med Genet 33 1996 1043 1044
    • (1996) J Med Genet , vol.33 , pp. 1043-1044
    • Avramopoulos, D1    Kitsos, G2    Economou-Petersen, E3    Grigoriadou, M4    Vassilopoulos, D5    Papageorgiou, C6    Psilas, K7
  • 4
    • 0031081371 scopus 로고    scopus 로고
    • Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) chromosome 1q23-q25
    • A Belmouden MF Adam SD de Dinechin AP Brézin P Rigault I Chumakov JF Bach Recombinational and physical mapping of the locus for primary open-angle glaucoma ( GLC1A ) chromosome 1q23-q25 Genomics 39 1997 348 358
    • (1997) Genomics , vol.39 , pp. 348-358
    • Belmouden, A1    Adam, MF2    de Dinechin, SD3    Brézin, AP4    Rigault, P5    Chumakov, I6    Bach, JF7
  • 5
    • 0029088476 scopus 로고
    • Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity
    • C Graff SF Urbak T Jerndal C Wadelius Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity Hum Genet 96 1995 285 289
    • (1995) Hum Genet , vol.96 , pp. 285-289
    • Graff, C1    Urbak, SF2    Jerndal, T3    Wadelius, C4
  • 6
    • 0031149050 scopus 로고    scopus 로고
    • A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping
    • R Kubota S Noda Y Wang S Minoshima S Asakawa J Kudoh Y Mashima A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping Genomics 41 1997 360 369
    • (1997) Genomics , vol.41 , pp. 360-369
    • Kubota, R1    Noda, S2    Wang, Y3    Minoshima, S4    Asakawa, S5    Kudoh, J6    Mashima, Y7
  • 7
    • 0020955893 scopus 로고
    • The epidemiology of open-angle glaucoma: a review
    • MC Leske The epidemiology of open-angle glaucoma: a review Am J Epidemiol 118 1983 166 191
    • (1983) Am J Epidemiol , vol.118 , pp. 166-191
    • Leske, MC1
  • 9
    • 0002935093 scopus 로고
    • Glucocorticoid (GC) effects on HTM cells: molecular biology approaches
    • TD Nguyen W Huang E Bloom JR Polansky Glucocorticoid (GC) effects on HTM cells: molecular biology approaches E Lütjen-Drecoll Basic aspects of glaucoma research III 1993 Shattauer Stuttgart 331 343
    • (1993) , pp. 331-343
    • Nguyen, TD1    Huang, W2    Bloom, E3    Polansky, JR4
  • 10
    • 0029980777 scopus 로고    scopus 로고
    • Number of people with glaucoma world-wide
    • HA Quigley Number of people with glaucoma world-wide Br J Ophthalmol 80 1996 389 393
    • (1996) Br J Ophthalmol , vol.80 , pp. 389-393
    • Quigley, HA1
  • 11
    • 0027972492 scopus 로고
    • Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q
    • JE Richards PR Lichter M Boehnke JL Uro D Torrez D Wong AT Johnson Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome 1q Am J Hum Genet 54 1994 62 70
    • (1994) Am J Hum Genet , vol.54 , pp. 62-70
    • Richards, JE1    Lichter, PR2    Boehnke, M3    Uro, JL4    Torrez, D5    Wong, D6    Johnson, AT7
  • 12
    • 0029950228 scopus 로고    scopus 로고
    • Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma
    • JE Richards PR Lichter S Herman ER Hauser YC Hou AT Johnson M Boehnke Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma Ophthalmology 103 1996 1035 1040
    • (1996) Ophthalmology , vol.103 , pp. 1035-1040
    • Richards, JE1    Lichter, PR2    Herman, S3    Hauser, ER4    Hou, YC5    Johnson, AT6    Boehnke, M7
  • 13
    • 0031970713 scopus 로고    scopus 로고
    • Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region
    • M Sarfarazi A Child D Stoilova G Brice T Desai OC Trifan D Poinoosawmy Localization of the fourth locus ( GLC1E ) for adult-onset primary open-angle glaucoma to the 10p15-p14 region Am J Hum Genet 62 1998 641 652
    • (1998) Am J Hum Genet , vol.62 , pp. 641-652
    • Sarfarazi, M1    Child, A2    Stoilova, D3    Brice, G4    Desai, T5    Trifan, OC6    Poinoosawmy, D7
  • 15
    • 0030586892 scopus 로고    scopus 로고
    • Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region
    • D Stoilova A Child OC Trifan RP Crick RL Coakes M Sarfarazi Localization of a locus ( GLC1B ) for adult-onset primary open angle glaucoma to the 2cen-q13 region Genomics 36 1996 142 150
    • (1996) Genomics , vol.36 , pp. 142-150
    • Stoilova, D1    Child, A2    Trifan, OC3    Crick, RP4    Coakes, RL5    Sarfarazi, M6
  • 17
    • 0030778592 scopus 로고    scopus 로고
    • Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan
    • Y Suzuki S Shirato F Taniguchi K Ohara K Nishimaki S Ohta Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan Am J Hum Genet 61 1997 1202 1204
    • (1997) Am J Hum Genet , vol.61 , pp. 1202-1204
    • Suzuki, Y1    Shirato, S2    Taniguchi, F3    Ohara, K4    Nishimaki, K5    Ohta, S6
  • 19
    • 0029557617 scopus 로고
    • Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31
    • JL Wiggs EA DelBono JS Schuman BT Hutchinson DS Walton Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31 Ophthalmology 102 1995 1782 1789
    • (1995) Ophthalmology , vol.102 , pp. 1782-1789
    • Wiggs, JL1    DelBono, EA2    Schuman, JS3    Hutchinson, BT4    Walton, DS5
  • 20
    • 0028332417 scopus 로고
    • Genetic linkage of autosomal dominant juvenile glaucoma in 1q21-q31 in three affected pedigrees
    • JL Wiggs JL Haines C Paglinauan A Fine C Sporn D Lou Genetic linkage of autosomal dominant juvenile glaucoma in 1q21-q31 in three affected pedigrees Genomics 21 1994 299 303
    • (1994) Genomics , vol.21 , pp. 299-303
    • Wiggs, JL1    Haines, JL2    Paglinauan, C3    Fine, A4    Sporn, C5    Lou, D6
  • 22
  • 23
    • 0029794054 scopus 로고    scopus 로고
    • Genetic heterogeneity in Hispanic families with autosomal dominant juvenile glaucoma
    • D WuDunn RK Parrish G Inana Genetic heterogeneity in Hispanic families with autosomal dominant juvenile glaucoma Ophthalmic Genet 17 1996 87 94
    • (1996) Ophthalmic Genet , vol.17 , pp. 87-94
    • WuDunn, D1    Parrish, RK2    Inana, G3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.