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Volumn 147, Issue 2, 2003, Pages 67-69

From gene to disease; the nail-patella syndrome and the LMX1B gene;Van gen naar ziekte; het nagel-patellasyndroom en het LMX1B-gen

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; TRANSCRIPTION FACTOR; HOMEODOMAIN PROTEIN; LIM HOMEOBOX TRANSCRIPTION FACTOR 1 BETA;

EID: 0037431898     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (13)
  • 3
    • 0025552074 scopus 로고
    • The nail-patella syndrome. A review
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    • (1990) J Nephrol , vol.2 , pp. 133-140
    • Meyrier, A.1    Rizzo, R.2    Gubler, M.C.3
  • 4
    • 0015492367 scopus 로고
    • Het nagel-patellasyndroom of de hereditaire onycho-osteo-arthrodysplasie
    • Haar BGA ter, Dam FE van. Het nagel-patellasyndroom of de hereditaire onycho-osteo-arthrodysplasie. Ned Tijdschr Geneeskd 1972;116:2218-27.
    • (1972) Ned Tijdschr Geneeskd , vol.116 , pp. 2218-2227
    • Ter Haar, B.G.A.1    Van Dam, F.E.2
  • 5
    • 0023687399 scopus 로고
    • Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy
    • Looij BJ, Slaa RL te, Hogewind BL, Kamp JJP van de. Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. J Med Genet 1988;25:682-6.
    • (1988) J Med Genet , vol.25 , pp. 682-686
    • Looij, B.J.1    Te Slaa, R.L.2    Hogewind, B.L.3    Van De Kamp, J.J.P.4
  • 6
    • 0000539456 scopus 로고
    • Genetical linkage between the ABO and nail-patella loci
    • Renwick JH, Lawler SD. 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.H.1    Lawler, S.D.2
  • 7
    • 0031800728 scopus 로고    scopus 로고
    • Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    • Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, 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.D.1    Zhou, G.2    Baldini, A.3    Winterpacht, A.4    Zabel, B.5    Cole, W.6
  • 8
    • 0036120564 scopus 로고    scopus 로고
    • Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation
    • Miner JH, Morello R, Andrews KL, Li C, Antignac C, Shaw AS, et al. Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest 2002;109:1065-72.
    • (2002) J Clin Invest , vol.109 , pp. 1065-1072
    • Miner, J.H.1    Morello, R.2    Andrews, K.L.3    Li, C.4    Antignac, C.5    Shaw, A.S.6
  • 9
    • 0036117988 scopus 로고    scopus 로고
    • The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes
    • Rohr C, Prestel J, Heidet L, Hosser H, Kriz W, Johnson RL, 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    Hosser, H.4    Kriz, W.5    Johnson, R.L.6
  • 10
    • 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 SD, Harvey SJ, Ninomiya Y, Thorner PS, 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.D.3    Harvey, S.J.4    Ninomiya, Y.5    Thorner, P.S.6
  • 11
    • 0036957091 scopus 로고    scopus 로고
    • Nail-patella syndrome. Overview on clinical and molecular findings
    • Bongers EMHF, Gubler MC, Knoers NVAM. 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.M.H.F.1    Gubler, M.C.2    Knoers, N.V.A.M.3
  • 12
    • 0032763066 scopus 로고    scopus 로고
    • Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients
    • Clough MV, Hamlington JD, McIntosh I. Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. Hum Mutat 1999;14:459-65.
    • (1999) Hum Mutat , vol.14 , pp. 459-465
    • Clough, M.V.1    Hamlington, J.D.2    McIntosh, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.