메뉴 건너뛰기




Volumn 90, Issue 12, 2006, Pages 1505-1511

Nail-patella syndrome and its association with glaucoma: A review of eight families

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LMX1B; UNCLASSIFIED DRUG;

EID: 33845271685     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2006.092619     Document Type: Article
Times cited : (56)

References (28)
  • 1
    • 0037338559 scopus 로고    scopus 로고
    • Nail patella syndrome: A review of the phenotype aided by developmental biology
    • Sweeney E, Fryer A, Mountford R, et al. Nail patella syndrome: a review of the phenotype aided by developmental biology. J Med Genet 2003;40:153-62.
    • (2003) J Med Genet , vol.40 , pp. 153-162
    • Sweeney, E.1    Fryer, A.2    Mountford, R.3
  • 2
    • 50549146625 scopus 로고
    • Sheffield Medico-chirurgical society
    • Pye-Smith. Sheffield Medico-chirurgical society. Lancet 1883;2:993.
    • (1883) Lancet , vol.2 , pp. 993
    • Pye-Smith1
  • 3
    • 21044456151 scopus 로고
    • Congenital absence or delayed development of the patella
    • Little E. Congenital absence or delayed development of the patella. Lancet 1897;2:781.
    • (1897) Lancet , vol.2 , pp. 781
    • Little, E.1
  • 4
    • 0025933248 scopus 로고
    • Nail patella syndrome: A review of 44 orthopaedic patients
    • Guidera KJ, Satterwhite Y, Ogden JA, et al. Nail patella syndrome: a review of 44 orthopaedic patients. J Pediatr Orthop 1991;11:737-42.
    • (1991) J Pediatr Orthop , vol.11 , pp. 737-742
    • Guidera, K.J.1    Satterwhite, Y.2    Ogden, J.A.3
  • 5
    • 0001359178 scopus 로고
    • Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns
    • Hawkins C, Smith O. Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet 1950;1:803-8.
    • (1950) Lancet , vol.1 , pp. 803-808
    • Hawkins, C.1    Smith, O.2
  • 6
    • 0000539456 scopus 로고
    • Genetical linkage between the ABO and nail-patella loci
    • Renwick J, Lawler S. Genetical linkage between the ABO and nail-patella loci. Ann Hum Genet 1955;19:312-31.
    • (1955) Ann Hum Genet , vol.19 , pp. 312-331
    • Renwick, J.1    Lawler, S.2
  • 7
    • 0030825171 scopus 로고    scopus 로고
    • Cosegregation of open-angle glaucoma and the nail-patella syndrome
    • Lichter PR, Richards JE, Downs CA, et al. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 1997;124:506-15.
    • (1997) Am J Ophthalmol , vol.124 , pp. 506-515
    • Lichter, P.R.1    Richards, J.E.2    Downs, C.A.3
  • 8
    • 4243378215 scopus 로고    scopus 로고
    • Glaucoma and nail patella syndrome (NPS) co-segregate: One gene or two? (Abstract)
    • McIntosh I, Lichter PR, Clough MV, et al. Glaucoma and nail patella syndrome (NPS) co-segregate: one gene or two? (Abstract). Am J Hum Genet 1997;61(Suppl):A13.
    • (1997) Am J Hum Genet , vol.61
    • McIntosh, I.1    Lichter, P.R.2    Clough, M.V.3
  • 9
    • 0032471924 scopus 로고    scopus 로고
    • Mutation analysis of LMX1B gene in nail-patella syndrome patients
    • McIntosh I, Dreyer SD, Clough MV, et al. Mutation analysis of LMX1B gene in nail-patella syndrome patients. Am J Hum Genet 1998;63:1651-8.
    • (1998) Am J Hum Genet , vol.63 , pp. 1651-1658
    • McIntosh, I.1    Dreyer, S.D.2    Clough, M.V.3
  • 11
    • 0031750061 scopus 로고    scopus 로고
    • Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
    • Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998;7:1091-8.
    • (1998) Hum Mol Genet , vol.7 , pp. 1091-1098
    • Vollrath, D.1    Jaramillo-Babb, V.L.2    Clough, M.V.3
  • 12
    • 0034639927 scopus 로고    scopus 로고
    • LMX1B transactivation and expression in nail-patella syndrome
    • Dreyer SD, Morello R, German MS, et al. LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet 2000;9:1067-74.
    • (2000) Hum Mol Genet , vol.9 , pp. 1067-1074
    • Dreyer, S.D.1    Morello, R.2    German, M.S.3
  • 13
    • 0034697955 scopus 로고    scopus 로고
    • Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb
    • Kania A, Johnson R, Jessell T. Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb. Cell 2000;102:161-73.
    • (2000) Cell , vol.102 , pp. 161-173
    • Kania, A.1    Johnson, R.2    Jessell, T.3
  • 14
    • 0034090670 scopus 로고    scopus 로고
    • LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye
    • Pressman CL, Chen H, Johnson RL. LMX1B, a LIM homeodomain class transcription factor, is necessary for normal development of multiple tissues in the anterior segment of the murine eye. Genesis 2000;26:15-25.
    • (2000) Genesis , vol.26 , pp. 15-25
    • Pressman, C.L.1    Chen, H.2    Johnson, R.L.3
  • 15
    • 0036117988 scopus 로고    scopus 로고
    • The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes
    • Rohr C, Prestel J, Heidet L, et al. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest 2002;109:1073-82.
    • (2002) J Clin Invest , vol.109 , pp. 1073-1082
    • Rohr, C.1    Prestel, J.2    Heidet, L.3
  • 16
    • 0035134740 scopus 로고    scopus 로고
    • Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
    • Morello R, Zhou G, Dreyer S, et al. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 2001;27:205-8.
    • (2001) Nat Genet , vol.27 , pp. 205-208
    • Morello, R.1    Zhou, G.2    Dreyer, S.3
  • 17
    • 0036957091 scopus 로고    scopus 로고
    • Nail-patella syndrome. Overview on clinical and molecular findings
    • Bongers E, Gubler M, Knoers N. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 2002;17:703-12.
    • (2002) Pediatr Nephrol , vol.17 , pp. 703-712
    • Bongers, E.1    Gubler, M.2    Knoers, N.3
  • 18
    • 0014951615 scopus 로고
    • The nail-patella syndrome
    • Pearce RL. The nail-patella syndrome. Med J Aust 1970;1:994-7.
    • (1970) Med J Aust , vol.1 , pp. 994-997
    • Pearce, R.L.1
  • 20
    • 0030447430 scopus 로고    scopus 로고
    • The 'GIST' score: Ranking glaucoma for genetic studies. Glaucoma Inheritance Study of Tasmania
    • Coote MA, McCartney PJ, Wilkinson RM, et al. The 'GIST' score: ranking glaucoma for genetic studies. Glaucoma Inheritance Study of Tasmania. Ophthalmol Genet 1996;17:199-208.
    • (1996) Ophthalmol Genet , vol.17 , pp. 199-208
    • Coote, M.A.1    McCartney, P.J.2    Wilkinson, R.M.3
  • 21
    • 0031800728 scopus 로고    scopus 로고
    • Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    • Dreyer S, Zhou G, Baldini A, et al. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet 1998;19:47-50.
    • (1998) Nat Genet , vol.19 , pp. 47-50
    • Dreyer, S.1    Zhou, G.2    Baldini, A.3
  • 22
    • 0029957176 scopus 로고    scopus 로고
    • Prevalence of open-angle glaucoma in Australia. The Blue Mountains Eye Study
    • Mitchell P, Smith W, Attebo K, et al. Prevalence of open-angle glaucoma in Australia. The Blue Mountains Eye Study. Ophthalmology 1996;103:1661-9.
    • (1996) Ophthalmology , vol.103 , pp. 1661-1669
    • Mitchell, P.1    Smith, W.2    Attebo, K.3
  • 23
    • 0031916540 scopus 로고    scopus 로고
    • The prevalence of glaucoma in the Melbourne Visual Impairment Project
    • Wensor MD, McCarty CA, Stanislavsky YL, et al. The prevalence of glaucoma in the Melbourne Visual Impairment Project. Ophthalmology 1998;105:733-9.
    • (1998) Ophthalmology , vol.105 , pp. 733-739
    • Wensor, M.D.1    McCarty, C.A.2    Stanislavsky, Y.L.3
  • 24
    • 3843076445 scopus 로고    scopus 로고
    • The human LMX1B gene: Transcription unit, promoter, and pathogenic mutations
    • Dunston JA, Hamlington JD, Zaveri J, et al. The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. Genomics 2004;84:565-76.
    • (2004) Genomics , vol.84 , pp. 565-576
    • Dunston, J.A.1    Hamlington, J.D.2    Zaveri, J.3
  • 25
    • 23644447910 scopus 로고    scopus 로고
    • Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
    • Bongers EM, Huysmans FT, Levtchenko E, et al. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 2005;13:935-46.
    • (2005) Eur J Hum Genet , vol.13 , pp. 935-946
    • Bongers, E.M.1    Huysmans, F.T.2    Levtchenko, E.3
  • 26
    • 0033753876 scopus 로고    scopus 로고
    • Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
    • Lehmann OJ, Ebenezer ND, Jordan T, et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet 2000;67:1129-35.
    • (2000) Am J Hum Genet , vol.67 , pp. 1129-1135
    • Lehmann, O.J.1    Ebenezer, N.D.2    Jordan, T.3
  • 27
    • 1542704052 scopus 로고    scopus 로고
    • Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome
    • Marini M, Bongers EM, Cusano R, et al. Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. Int J Mol Med 2003;12:79-82.
    • (2003) Int J Mol Med , vol.12 , pp. 79-82
    • Marini, M.1    Bongers, E.M.2    Cusano, R.3
  • 28
    • 0036117988 scopus 로고    scopus 로고
    • The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes
    • Rohr C, Prestel J, Heidet L, et al. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest 2002;109:1073-82.
    • (2002) J Clin Invest , vol.109 , pp. 1073-1082
    • Rohr, C.1    Prestel, J.2    Heidet, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.