메뉴 건너뛰기




Volumn 19, Issue , 2013, Pages 78-84

Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GENOMIC DNA; GUANOSINE;

EID: 84873170374     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (28)

References (31)
  • 1
    • 33644959278 scopus 로고    scopus 로고
    • Gene mapping for primary open angle glaucoma
    • [PMID: 16332362]
    • Fan BJ, Wang DY, Lam DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem 2006; 39:249-58. [PMID: 16332362].
    • (2006) Clin Biochem , vol.39 , pp. 249-258
    • Fan, B.J.1    Wang, D.Y.2    Lam, D.S.3    Pang, C.P.4
  • 2
    • 0142212335 scopus 로고    scopus 로고
    • Recent advances in molecular genetics of glaucoma
    • [PMID: 14619973]
    • Ray K, Mukhopadhyay A, Acharya M. Recent advances in molecular genetics of glaucoma. Mol Cell Biochem 2003; 253:223-31. [PMID: 14619973].
    • (2003) Mol Cell Biochem , vol.253 , pp. 223-231
    • Ray, K.1    Mukhopadhyay, A.2    Acharya, M.3
  • 3
    • 0030874913 scopus 로고    scopus 로고
    • Recent advances in molecular genetics of glaucomas
    • [PMID: 9300658]
    • Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet 1997; 6:1667-77. [PMID: 9300658].
    • (1997) Hum Mol Genet , vol.6 , pp. 1667-1677
    • Sarfarazi, M.1
  • 4
    • 0029980777 scopus 로고    scopus 로고
    • Number of people with glaucoma worldwide
    • [PMID: 8695555]
    • Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996; 80:389-93. [PMID: 8695555].
    • (1996) Br J Ophthalmol , vol.80 , pp. 389-393
    • Quigley, H.A.1
  • 5
    • 0348225298 scopus 로고    scopus 로고
    • Genetics and biochemistry of primary congenital glaucoma
    • [PMID: 14740995]
    • Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am 2003; 16:543-54. [PMID: 14740995].
    • (2003) Ophthalmol Clin North Am , vol.16 , pp. 543-554
    • Sarfarazi, M.1    Stoilov, I.2    Schenkman, J.B.3
  • 6
    • 0020535806 scopus 로고
    • Morphologic changes in the lamina cribrosa correlated with neural loss in open-angle glaucoma
    • [PMID: 6846459]
    • Quigley HA, Hohman RM, Addicks EM, Massof RW, Green WR. Morphologic changes in the lamina cribrosa correlated with neural loss in open-angle glaucoma. Am J Ophthalmol 1983; 95:673-91. [PMID: 6846459].
    • (1983) Am J Ophthalmol , vol.95 , pp. 673-691
    • Quigley, H.A.1    Hohman, R.M.2    Addicks, E.M.3    Massof, R.W.4    Green, W.R.5
  • 7
    • 79953065240 scopus 로고    scopus 로고
    • Primary Congenital Glaucoma and the Involvement of CYP1B1
    • [PMID: 21572728]
    • Kaur K, Mandal AK, Chakrabarti S. Primary Congenital Glaucoma and the Involvement of CYP1B1. Middle East Afr J Ophthalmol 2011; 18:7-16. [PMID: 21572728].
    • (2011) Middle East Afr J Ophthalmol , vol.18 , pp. 7-16
    • Kaur, K.1    Mandal, A.K.2    Chakrabarti, S.3
  • 8
    • 0034639693 scopus 로고    scopus 로고
    • Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
    • [PMID: 10655546]
    • Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 2000; 9:367-74. [PMID: 10655546].
    • (2000) Hum Mol Genet , vol.9 , pp. 367-374
    • Bejjani, B.A.1    Stockton, D.W.2    Lewis, R.A.3    Tomey, K.F.4    Dueker, D.K.5    Jabak, M.6    Astle, W.F.7    Lupski, J.R.8
  • 9
    • 0032040349 scopus 로고    scopus 로고
    • Populationbased assessment of childhood blindness in southern India
    • [PMID: 9565065]
    • Dandona L, Williams JD, Williams BC, Rao GN. Populationbased assessment of childhood blindness in southern India. Arch Ophthalmol 1998; 116:545-6. [PMID: 9565065].
    • (1998) Arch Ophthalmol , vol.116 , pp. 545-546
    • Dandona, L.1    Williams, J.D.2    Williams, B.C.3    Rao, G.N.4
  • 10
    • 0028880039 scopus 로고
    • Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity
    • [PMID: 8586416]
    • Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995; 30:171-7. [PMID: 8586416].
    • (1995) Genomics , vol.30 , pp. 171-177
    • Sarfarazi, M.1    Akarsu, A.N.2    Hossain, A.3    Turacli, M.E.4    Aktan, S.G.5    Barsoum-Homsy, M.6    Chevrette, L.7    Sayli, B.S.8
  • 14
    • 67650093875 scopus 로고    scopus 로고
    • Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients
    • [PMID: 19536304]
    • Tanwar M, Dada T, Sihota R, Das TK, Yadav U, Dada R. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients. Mol Vis 2009; 15:1200-9. [PMID: 19536304].
    • (2009) Mol Vis , vol.15 , pp. 1200-1209
    • Tanwar, M.1    Dada, T.2    Sihota, R.3    Das, T.K.4    Yadav, U.5    Dada, R.6
  • 15
    • 51549087751 scopus 로고    scopus 로고
    • Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families
    • [PMID: 18776954]
    • Firasat S, Riazuddin SA, Hejtmancik JF, Riazuddin S. Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families. Mol Vis 2008; 14:1659-65. [PMID: 18776954].
    • (2008) Mol Vis , vol.14 , pp. 1659-1665
    • Firasat, S.1    Riazuddin, S.A.2    Hejtmancik, J.F.3    Riazuddin, S.4
  • 16
    • 83055199997 scopus 로고    scopus 로고
    • Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations
    • [PMID: 22025892]
    • Khan AO, Aldahmesh MA, Alkuraya FS. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis 2011; 17:2570-9. [PMID: 22025892].
    • (2011) Mol Vis , vol.17 , pp. 2570-2579
    • Khan, A.O.1    Aldahmesh, M.A.2    Alkuraya, F.S.3
  • 18
    • 84873133885 scopus 로고    scopus 로고
    • Isolation of High-molecular-weight DNA from Mammalian Cells Using Proteinase K and Phenol
    • [PMID: 22485456]
    • Sambrook J, Russell DW. Isolation of High-molecular-weight DNA from Mammalian Cells Using Proteinase K and Phenol. CSH Protoc. 2006; 2006. [PMID: 22485456].
    • (2006) CSH Protoc , pp. 2006
    • Sambrook, J.1    Russell, D.W.2
  • 19
    • 78149487832 scopus 로고    scopus 로고
    • MYOC and FOXC1 gene analysis in primary congenital glaucoma
    • [PMID: 21031026]
    • Tanwar M, Kumar M, Dada T, Sihota R, Dada R. MYOC and FOXC1 gene analysis in primary congenital glaucoma. Mol Vis 2010; 16:1996-2006. [PMID: 21031026].
    • (2010) Mol Vis , vol.16 , pp. 1996-2006
    • Tanwar, M.1    Kumar, M.2    Dada, T.3    Sihota, R.4    Dada, R.5
  • 20
    • 0028857166 scopus 로고
    • Bovine latent transforming growth factor beta 1-binding protein 2: Molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils
    • [PMID: 8524260]
    • Gibson MA, Hatzinikolas G, Davis EC, Baker E, Sutherland GR, Mecham RP. Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils. Mol Cell Biol 1995; 15:6932-42. [PMID: 8524260].
    • (1995) Mol Cell Biol , vol.15 , pp. 6932-6942
    • Gibson, M.A.1    Hatzinikolas, G.2    Davis, E.C.3    Baker, E.4    Sutherland, G.R.5    Mecham, R.P.6
  • 21
    • 0043092067 scopus 로고    scopus 로고
    • Latent transforming growth factor-beta-binding protein 2 is an adhesion protein for melanoma cells
    • [PMID: 12716902]
    • Vehviläinen P, Hyytiainen M, Keski-Oja J. Latent transforming growth factor-beta-binding protein 2 is an adhesion protein for melanoma cells. J Biol Chem 2003; 278:24705-13. [PMID: 12716902].
    • (2003) J Biol Chem , vol.278 , pp. 24705-24713
    • Vehviläinen, P.1    Hyytiainen, M.2    Keski-Oja, J.3
  • 22
    • 0347363471 scopus 로고    scopus 로고
    • Latent TGF-beta binding protein LTBP-2 decreases fibroblast adhesion to fibronectin
    • [PMID: 14691143]
    • Hyytiäinen M, Keski-Oja J. Latent TGF-beta binding protein LTBP-2 decreases fibroblast adhesion to fibronectin. J Cell Biol 2003; 163:1363-74. [PMID: 14691143].
    • (2003) J Cell Biol , vol.163 , pp. 1363-1374
    • Hyytiäinen, M.1    Keski-Oja, J.2
  • 23
    • 0032415040 scopus 로고    scopus 로고
    • Cellular and extracellular biology of the latent transforming growth factor-beta binding proteins
    • [PMID: 9923648]
    • Sinha S, Nevett C, Shuttleworth CA, Kielty CM. Cellular and extracellular biology of the latent transforming growth factor-beta binding proteins. Matrix Biol 1998; 17:529-45. [PMID: 9923648].
    • (1998) Matrix Biol , vol.17 , pp. 529-545
    • Sinha, S.1    Nevett, C.2    Shuttleworth, C.A.3    Kielty, C.M.4
  • 24
    • 34247501749 scopus 로고    scopus 로고
    • LTBP-2 specifically interacts with the N-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein
    • [PMID: 17293099]
    • Hirani R, Hanssen E, Gibson MA. LTBP-2 specifically interacts with the N-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein. Matrix Biol 2007; 26:213-23. [PMID: 17293099.
    • (2007) Matrix Biol , vol.26 , pp. 213-223
    • Hirani, R.1    Hanssen, E.2    Gibson, M.A.3
  • 25
    • 34547231051 scopus 로고    scopus 로고
    • Latent TGF-beta-binding protein 2 binds to DANCE/ fibulin-5 and regulates elastic fiber assembly
    • [PMID: 17581631]
    • Hirai M, Horiguchi M, Ohbayashi T, Kita T, Chien KR, Nakamura T. Latent TGF-beta-binding protein 2 binds to DANCE/ fibulin-5 and regulates elastic fiber assembly. EMBO J 2007; 26:3283-95. [PMID: 17581631.
    • (2007) EMBO J , vol.26 , pp. 3283-3295
    • Hirai, M.1    Horiguchi, M.2    Ohbayashi, T.3    Kita, T.4    Chien, K.R.5    Nakamura, T.6
  • 27
    • 57349109503 scopus 로고    scopus 로고
    • Identification of LTBP2 on chromosome 14q as a novel candidate gene for bone mineral density variation and fracture risk association
    • [PMID: 18697872]
    • Cheung CL, Sham PC, Chan V, Paterson AD, Luk KD, Kung AW. Identification of LTBP2 on chromosome 14q as a novel candidate gene for bone mineral density variation and fracture risk association. J Clin Endocrinol Metab 2008; 93:4448-55. [PMID: 18697872.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 4448-4455
    • Cheung, C.L.1    Sham, P.C.2    Chan, V.3    Paterson, A.D.4    Luk, K.D.5    Kung, A.W.6
  • 29
    • 77953809725 scopus 로고    scopus 로고
    • LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma
    • [PMID: 20179738]
    • Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, Abramowicz M. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet 2010; 18:761-7. [PMID: 20179738.
    • (2010) Eur J Hum Genet , vol.18 , pp. 761-767
    • Désir, J.1    Sznajer, Y.2    Depasse, F.3    Roulez, F.4    Schrooyen, M.5    Meire, F.6    Abramowicz, M.7
  • 31
    • 80054999417 scopus 로고    scopus 로고
    • Analysis of def lection enhancement using epsilon assembly microcantilevers based sensors
    • [PMID: 22163694]
    • Khaled AR, Vafai K. Analysis of def lection enhancement using epsilon assembly microcantilevers based sensors. Sensors (Basel) 2011; 11:9260-74. [PMID: 22163694.
    • (2011) Sensors (Basel) , vol.11 , pp. 9260-9274
    • Khaled, A.R.1    Vafai, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.