메뉴 건너뛰기




Volumn 35, Issue 1, 2014, Pages 35-40

TBK1 and flanking genes in human retina

Author keywords

Fluorescent in situ hybridization; Normal tension glaucoma; TBK1

Indexed keywords

AGED; ARTICLE; CAUSE OF DEATH; CHROMOSOME 12Q; CHROMOSOME 12Q14; CHROMOSOME DUPLICATION; CHROMOSOME MUTATION; CHROMOSOME STRUCTURE; CLINICAL ARTICLE; DIABETIC RETINOPATHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; GENE LOCUS; GNS GENE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; KARYOTYPE; KARYOTYPING; MALE; MUELLER CELL; OPTIC NERVE FIBER; PEDIGREE; PRIORITY JOURNAL; RASSF 3 GENE; RETINA; RETINA GANGLION CELL; TANDEM REPEAT; TBK 1 GENE; VERY ELDERLY; XPOT GENE;

EID: 84893521869     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2013.768674     Document Type: Article
Times cited : (16)

References (24)
  • 1
    • 80055045333 scopus 로고    scopus 로고
    • Molecular genetics in glaucoma
    • Liu Y, Allingham RR. Molecular genetics in glaucoma. Exp Eye Res 2011;93:331-339.
    • (2011) Exp Eye Res , vol.93 , pp. 331-339
    • Liu, Y.1    Allingham, R.R.2
  • 2
    • 84863230548 scopus 로고    scopus 로고
    • Current concepts on primary open-angle glaucoma genetics: A contribution to disease pathophysiology and future treatment
    • Gemenetzi M, Yang Y, Lotery AJ. Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment. Eye 2012;26:355-369.
    • (2012) Eye , vol.26 , pp. 355-369
    • Gemenetzi, M.1    Yang, Y.2    Lotery, A.J.3
  • 3
    • 79956006929 scopus 로고    scopus 로고
    • Copy number variations on chromosome 12q14 in patients with normal tension glaucoma
    • Fingert JH, Robin AL, Stone JL, et al. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet 2011;20:2482-2494.
    • (2011) Hum Mol Genet , vol.20 , pp. 2482-2494
    • Fingert, J.H.1    Robin, A.L.2    Stone, J.L.3
  • 4
    • 80053629974 scopus 로고    scopus 로고
    • Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2
    • Porter LF, Urquhart JE, O'Donoghue E, et al. Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2. Invest Ophthalmol Vis Sci 2011;52:7859-7865.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 7859-7865
    • Porter, L.F.1    Urquhart, J.E.2    O'Donoghue, E.3
  • 5
    • 14444283397 scopus 로고    scopus 로고
    • Identification of a gene that causes primary open angle glaucoma
    • Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science 1997;275:668-670.
    • (1997) Science , vol.275 , pp. 668-670
    • Stone, E.M.1    Fingert, J.H.2    Alward, W.L.3
  • 6
    • 17944385621 scopus 로고    scopus 로고
    • Clinical features associated with mutations in the chromosome 1 openangle glaucoma gen (GLC1A)
    • Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 openangle glaucoma gene (GLC1A). N Engl J Med 1998;338: 1022-1027.
    • (1998) N Engl J Me , vol.338 , pp. 1022-1027
    • Alward, W.L.1    Fingert, J.H.2    Coote, M.A.3
  • 7
    • 18244385269 scopus 로고    scopus 로고
    • Adult-onset primary open-angle glaucoma caused by mutations in optineurin
    • Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002;295:1077-1079.
    • (2002) Science , vol.295 , pp. 1077-1079
    • Rezaie, T.1    Child, A.2    Hitchings, R.3
  • 8
    • 84863230410 scopus 로고    scopus 로고
    • Variants in ASB10 are associated with open-angle glaucoma
    • Pasutto F, Keller KE, Weisschuh N, et al. Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet 2012;21:1336-1349.
    • (2012) Hum Mol Genet , vol.21 , pp. 1336-1349
    • Pasutto, F.1    Keller, K.E.2    Weisschuh, N.3
  • 9
    • 84867133825 scopus 로고    scopus 로고
    • Analysis of ASB10 variants in open angle glaucoma
    • Fingert JH, Roos BR, Solivan-Timpe F, et al. Analysis of ASB10 variants in open angle glaucoma. Hum Mol Genet 2012;21:4543-4548.
    • (2012) Hum Mol Genet , vol.21 , pp. 4543-4548
    • Fingert, J.H.1    Roos, B.R.2    Solivan-Timpe, F.3
  • 10
    • 20144382615 scopus 로고    scopus 로고
    • Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
    • Monemi S, Spaeth G, Dasilva A, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 2005;14:725-733.
    • (2005) Hum Mol Genet , vol.14 , pp. 725-733
    • Monemi, S.1    Spaeth, G.2    Dasilva, A.3
  • 11
    • 33947238222 scopus 로고    scopus 로고
    • No association between variations in the WDR36 gene and primary openangle glaucoma
    • Fingert JH, Alward WL, Kwon YH, et al. No association between variations in the WDR36 gene and primary openangle glaucoma. Arch Ophthalmol 2007;125:434-436.
    • (2007) Arch Ophthalmol , vol.125 , pp. 434-436
    • Fingert, J.H.1    Alward, W.L.2    Kwon, Y.H.3
  • 12
    • 33745672351 scopus 로고    scopus 로고
    • Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma
    • Hauser MA, Allingham RR, Linkroum K, et al. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006;47:2542-2546.
    • (2006) Invest Ophthalmol Vis Sci , vol.47 , pp. 2542-2546
    • Hauser, M.A.1    Allingham, R.R.2    Linkroum, K.3
  • 13
    • 33746293357 scopus 로고    scopus 로고
    • A glaucoma case-control study of the WDR36 Gene D658G sequence variant
    • Hewitt AW, Dimasi DP, Mackey DA, Craig JE. A glaucoma case-control study of the WDR36 Gene D658G sequence variant. Am J Ophthalmol 2006;142:324-325.
    • (2006) Am J Ophthalmol , vol.142 , pp. 324-325
    • Hewitt, A.W.1    Dimasi, D.P.2    Mackey, D.A.3    Craig, J.E.4
  • 14
    • 70350500461 scopus 로고    scopus 로고
    • Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma
    • Pasutto F, Matsumoto T, Mardin CY, et al. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet 2009;85:447-456.
    • (2009) Am J Hum Genet , vol.85 , pp. 447-456
    • Pasutto, F.1    Matsumoto, T.2    Mardin, C.Y.3
  • 15
    • 77649228050 scopus 로고    scopus 로고
    • No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma
    • author reply 500
    • Liu Y, Liu W, Crooks K, et al. No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma. Am J Hum Genet 2010;86:498-499; author reply 500.
    • (2010) Am J Hum Genet , vol.86 , pp. 498-499
    • Liu, Y.1    Liu, W.2    Crooks, K.3
  • 16
    • 77958149448 scopus 로고    scopus 로고
    • Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an Indian population
    • Rao KN, Kaur I, Parikh RS, et al. Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an Indian population. Invest Ophthalmol Vis Sci 2010;51:4937-4941.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 4937-4941
    • Rao, K.N.1    Kaur, I.2    Parikh, R.S.3
  • 17
    • 84857798148 scopus 로고    scopus 로고
    • Confirmation of TBK1 duplication in normal tension glaucoma
    • Kawase K, Allingham RR, Meguro A, et al. Confirmation of TBK1 duplication in normal tension glaucoma. Exp Eye Res 2012;96:178-180.
    • (2012) Exp Eye Res , vol.96 , pp. 178-180
    • Kawase, K.1    Allingham, R.R.2    Meguro, A.3
  • 18
    • 40149097099 scopus 로고    scopus 로고
    • Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma
    • Morton S, Hesson L, Peggie M, Cohen P. Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma. FEBS Lett 2008; 582:997-1002.
    • (2008) FEBS Lett , vol.582 , pp. 997-1002
    • Morton, S.1    Hesson, L.2    Peggie, M.3    Cohen, P.4
  • 19
    • 80052197913 scopus 로고    scopus 로고
    • TBK1 mediates crosstalk between the innate immune response and autophagy
    • Weidberg H, Elazar Z. TBK1 mediates crosstalk between the innate immune response and autophagy. Sci Signal 2011;4:pe39.
    • (2011) Sci Signal , vol.4
    • Weidberg, H.1    Elazar, Z.2
  • 20
    • 79960804104 scopus 로고    scopus 로고
    • Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth
    • Wild P, Farhan H, McEwan DG, et al. Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth. Science 2011;333:228-233.
    • (2011) Science , vol.333 , pp. 228-233
    • Wild, P.1    Farhan, H.2    McEwan, D.G.3
  • 21
    • 77951214016 scopus 로고    scopus 로고
    • Mammalian autophagy: Core molecular machinery and signaling regulation
    • Yang Z, Klionsky DJ. Mammalian autophagy: core molecular machinery and signaling regulation. Curr Opin Cell Biol 2010;22:124-131.
    • (2010) Curr Opin Cell Biol , vol.22 , pp. 124-131
    • Yang, Z.1    Klionsky, D.J.2
  • 22
    • 0025039744 scopus 로고
    • Improved method for obtaining 3-microns cryosections for immunocytochemistry
    • Barthel LK, Raymond PA. Improved method for obtaining 3-microns cryosections for immunocytochemistry. J Histochem Cytochem 1990;38:1383-1388.
    • (1990) J Histochem Cytochem , vol.38 , pp. 1383-1388
    • Barthel, L.K.1    Raymond, P.A.2
  • 23
    • 33645409461 scopus 로고    scopus 로고
    • Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina
    • Mullins RF, Skeie JM, Malone EA, Kuehn MH. Macular and peripheral distribution of ICAM-1 in the human choriocapillaris and retina. Mol Vis 2006;12:224-235.
    • (2006) Mol Vis , vol.12 , pp. 224-235
    • Mullins, R.F.1    Skeie, J.M.2    Malone, E.A.3    Kuehn, M.H.4
  • 24
    • 79955983465 scopus 로고    scopus 로고
    • Primary open-angle glaucoma genes
    • Fingert JH. Primary open-angle glaucoma genes. Eye (Lond) 2011;25:587-595.
    • (2011) Eye (Lond) , vol.25 , pp. 587-595
    • Fingert, J.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.