메뉴 건너뛰기




Volumn 24, Issue 12, 2009, Pages 2345-2354

Kidney disease in nail-patella syndrome

Author keywords

Albuminuria; Creatinine clearance; Homeodomain; LMX1B; Podocyte

Indexed keywords

CD2 ASSOCIATED PROTEIN; GENE PRODUCT; PODOCIN; PROTEIN LMX1B; UNCLASSIFIED DRUG;

EID: 70350656203     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-0836-8     Document Type: Review
Times cited : (76)

References (51)
  • 1
    • 0037338559 scopus 로고    scopus 로고
    • Nail patella syndrome: A review of the phenotype aided by developmental biology
    • Sweeney E, Fryer A, Mountford R, Green A, McIntosh I (2003) Nail patella syndrome: A review of the phenotype aided by developmental biology. J Med Genet 40:153-162
    • (2003) J Med Genet , vol.40 , pp. 153-162
    • Sweeney, E.1    Fryer, A.2    Mountford, R.3    Green, A.4    McIntosh, I.5
  • 2
    • 21044456151 scopus 로고
    • Congenital absence or delayed development of the patella
    • Little EM (1897) Congenital absence or delayed development of the patella. Lancet 2:781
    • (1897) Lancet , vol.2 , pp. 781
    • Little, E.M.1
  • 3
    • 0000539456 scopus 로고
    • Genetical linkage between the ABO and nail-patella loci
    • Renwick JH, Lawler SD (1955) Genetical linkage between the ABO and nail-patella loci. Ann Hum Genet 19:312-331
    • (1955) Ann Hum Genet , vol.19 , pp. 312-331
    • Renwick, J.H.1    Lawler, S.D.2
  • 5
    • 0001404004 scopus 로고
    • The nail-patella syndrome. Clinical and genetic aspects of 5 kindreds with 38 affected family members
    • Lucas GL, Opitz JM (1966) The nail-patella syndrome. Clinical and genetic aspects of 5 kindreds with 38 affected family members. J Pediatr 68:273-288
    • (1966) J Pediatr , vol.68 , pp. 273-288
    • Lucas, G.L.1    Opitz, J.M.2
  • 7
    • 0001359178 scopus 로고
    • Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns
    • Hawkins CF, Smith DE (1950) Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet 1:803
    • (1950) Lancet , vol.1 , pp. 803
    • Hawkins, C.F.1    Smith, D.E.2
  • 8
    • 0344919431 scopus 로고
    • Die sog. Flughaut beim Menschen. Ihre Beziehung zum Status dysraphicus und ihre Erblichkeit
    • Kieser W (1939) Die sog. Flughaut beim Menschen. Ihre Beziehung zum Status dysraphicus und ihre Erblichkeit. Z Menschl Vererb Konstitutionslehre 23:594-619
    • (1939) Z Menschl Vererb Konstitutionslehre , vol.23 , pp. 594-619
    • Kieser, W.1
  • 9
    • 0036957091 scopus 로고    scopus 로고
    • Nail-patella syndrome. Overview on clinical and molecular findings
    • Bongers E, Gubler MC, Knoers N (2002) Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 17:703-712
    • (2002) Pediatr Nephrol , vol.17 , pp. 703-712
    • Bongers, E.1    Gubler, M.C.2    Knoers, N.3
  • 16
    • 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, Di Duca M, Seri M, Knoers NV, Ravazzolo R (2003) Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. Int J Mol Med 12:79-82
    • (2003) Int J Mol Med , vol.12 , pp. 79-82
    • Marini, M.1    Bongers, E.M.2    Cusano, R.3    Di Duca, M.4    Seri, M.5    Knoers, N.V.6    Ravazzolo, R.7
  • 17
    • 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, Lee B (2002) Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest 109:1065-1072
    • (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    Lee, B.7
  • 22
    • 0036233265 scopus 로고    scopus 로고
    • Insight into podocyte differentiation from the study of human genetic disease: Nail-patella syndrome and transcriptional regulation in podocytes
    • Morello R, Lee B (2002) Insight into podocyte differentiation from the study of human genetic disease: Nail-patella syndrome and transcriptional regulation in podocytes. Pediatr Res 51:551-558
    • (2002) Pediatr Res , vol.51 , pp. 551-558
    • Morello, R.1    Lee, B.2
  • 23
    • 20544435690 scopus 로고    scopus 로고
    • Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in nail-patella syndrome
    • Marini M, Giacopelli F, Seri M, Ravazzolo R (2005) Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in nail-patella syndrome. Eur J Hum Genet 13:789-792
    • (2005) Eur J Hum Genet , vol.13 , pp. 789-792
    • Marini, M.1    Giacopelli, F.2    Seri, M.3    Ravazzolo, R.4
  • 24
    • 19444388090 scopus 로고    scopus 로고
    • Functional characterization of LMX1B mutations associated with nail-patella syndrome
    • Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T (2005) Functional characterization of LMX1B mutations associated with nail-patella syndrome. Pediatr Res 57:783-788
    • (2005) Pediatr Res , vol.57 , pp. 783-788
    • Sato, U.1    Kitanaka, S.2    Sekine, T.3    Takahashi, S.4    Ashida, A.5    Igarashi, T.6
  • 25
    • 13444259919 scopus 로고    scopus 로고
    • Phenotype severity and genetic variation at the disease locus: An investigation of nail dysplasia in the nail patella syndrome
    • Dunston JA, Lin S, Park JW, Malbroux M, McIntosh I (2005) Phenotype severity and genetic variation at the disease locus: An investigation of nail dysplasia in the nail patella syndrome. Ann Hum Genet 69:1-8
    • (2005) Ann Hum Genet , vol.69 , pp. 1-8
    • Dunston, J.A.1    Lin, S.2    Park, J.W.3    Malbroux, M.4    McIntosh, I.5
  • 26
    • 0001608286 scopus 로고
    • Nail-patella syndrome: Evidence for modification by alleles at the main locus
    • Renwick JH (1956) Nail-patella syndrome: Evidence for modification by alleles at the main locus. Ann Hum Genet 21:159-169
    • (1956) Ann Hum Genet , vol.21 , pp. 159-169
    • Renwick, J.H.1
  • 27
    • 0025552074 scopus 로고
    • The nail-patella syndrome. A review
    • Meyrier A, Rizzo R, Gubler MC (1990) The nail-patella syndrome. A review. J Nephrol 2:133-140
    • (1990) J Nephrol , vol.2 , pp. 133-140
    • Meyrier, A.1    Rizzo, R.2    Gubler, M.C.3
  • 30
    • 0023687399 scopus 로고
    • Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy
    • Looij BJ Jr., te Slaa RL, Hogewind BL, van de Kamp JJ (1988) Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. J Med Genet 25:682-686
    • (1988) J Med Genet , vol.25 , pp. 682-686
    • Looij Jr., B.J.1    te Slaa, R.L.2    Hogewind, B.L.3    van de Kamp, J.J.4
  • 33
    • 0027181962 scopus 로고
    • Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome
    • Rizzo R, Pavone L, Micali G, Hall JG (1993) Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. Clin Genet 44:1-7
    • (1993) Clin Genet , vol.44 , pp. 1-7
    • Rizzo, R.1    Pavone, L.2    Micali, G.3    Hall, J.G.4
  • 35
    • 0019944871 scopus 로고
    • Early detection of patients at risk of developing diabetic nephropathy. A longitudinal study of urinary albumin excretion
    • Parving HH, Oxenboll B, Svendsen PA, Christiansen JS, Andersen AR (1982) Early detection of patients at risk of developing diabetic nephropathy. A longitudinal study of urinary albumin excretion. Acta Endocrinol (Copenh) 100:550-555
    • (1982) Acta Endocrinol (Copenh) , vol.100 , pp. 550-555
    • Parving, H.H.1    Oxenboll, B.2    Svendsen, P.A.3    Christiansen, J.S.4    Andersen, A.R.5
  • 36
    • 0020045025 scopus 로고
    • Microalbuminuria as a predictor of clinical nephropathy in insulin-dependent diabetes mellitus
    • Viberti GC, Hill RD, Jarrett RJ, Argyropoulos A, Mahmud U, Keen H (1982) Microalbuminuria as a predictor of clinical nephropathy in insulin-dependent diabetes mellitus. Lancet 1:1430-1432
    • (1982) Lancet , vol.1 , pp. 1430-1432
    • Viberti, G.C.1    Hill, R.D.2    Jarrett, R.J.3    Argyropoulos, A.4    Mahmud, U.5    Keen, H.6
  • 37
    • 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, Lee B (2002) Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest 109:1065-1072
    • (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    Lee, B.7
  • 38
    • 0014890909 scopus 로고
    • Ultrastructure of the kidney in the nephropathy of the nail-patella syndrome
    • Del Pozo E, Lapp H (1970) Ultrastructure of the kidney in the nephropathy of the nail-patella syndrome. Am J Clin Pathol 54:845-851
    • (1970) Am J Clin Pathol , vol.54 , pp. 845-851
    • Del Pozo, E.1    Lapp, H.2
  • 40
    • 0242407564 scopus 로고    scopus 로고
    • Nail-patella glomerulopathy without associated constitutional abnormalities
    • Zuppan CW, Weeks DA, Cutler D (2003) Nail-patella glomerulopathy without associated constitutional abnormalities. Ultrastruct Pathol 27:357-361
    • (2003) Ultrastruct Pathol , vol.27 , pp. 357-361
    • Zuppan, C.W.1    Weeks, D.A.2    Cutler, D.3
  • 42
    • 0030604561 scopus 로고    scopus 로고
    • Randomised placebo-controlled trial of effect of ramipril on decline in glomerular filtration rate and risk of terminal renal failure in proteinuric, non-diabetic nephropathy
    • GISEN (Gruppo Italiano di Studi Epidemiologici in Nefrologia)
    • GISEN (Gruppo Italiano di Studi Epidemiologici in Nefrologia) (1997) Randomised placebo-controlled trial of effect of ramipril on decline in glomerular filtration rate and risk of terminal renal failure in proteinuric, non-diabetic nephropathy. Lancet 349:1857-1863
    • (1997) Lancet , vol.349 , pp. 1857-1863
  • 43
    • 0032986645 scopus 로고    scopus 로고
    • Long-term effects of cyclosporine A in Alport's syndrome
    • Callis L, Vila A, Carrera M, Nieto J (1999) Long-term effects of cyclosporine A in Alport's syndrome. Kidney Int 55:1051-1056
    • (1999) Kidney Int , vol.55 , pp. 1051-1056
    • Callis, L.1    Vila, A.2    Carrera, M.3    Nieto, J.4
  • 46
    • 0023179130 scopus 로고
    • The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents
    • Schwartz GJ, Brion LP, Spitzer A (1987) The use of plasma creatinine concentration for estimating glomerular filtration rate in infants, children, and adolescents. Pediatr Clin North Am 34:571-591
    • (1987) Pediatr Clin North Am , vol.34 , pp. 571-591
    • Schwartz, G.J.1    Brion, L.P.2    Spitzer, A.3
  • 47
    • 0021910427 scopus 로고
    • Longitudinal studies on the rate of decline in renal function with age
    • Lindeman RD, Tobin J, Shock NW (1985) Longitudinal studies on the rate of decline in renal function with age. J Am Geriatr Soc 33:278-285
    • (1985) J Am Geriatr Soc , vol.33 , pp. 278-285
    • Lindeman, R.D.1    Tobin, J.2    Shock, N.W.3
  • 48
    • 0017230772 scopus 로고
    • The effect of age on creatinine clearance in men: A cross-sectional and longitudinal study
    • Rowe JW, Andres R, Tobin JD, Norris AH, Shock NW (1976) The effect of age on creatinine clearance in men: A cross-sectional and longitudinal study. J Gerontol 31:155-163
    • (1976) J Gerontol , vol.31 , pp. 155-163
    • Rowe, J.W.1    Andres, R.2    Tobin, J.D.3    Norris, A.H.4    Shock, N.W.5
  • 49
    • 0042316754 scopus 로고    scopus 로고
    • Standardizing mutation nomenclature: Why bother?
    • den Dunnen JT, Paalman MH (2003) Standardizing mutation nomenclature: why bother? Hum Mutat 22:181-182
    • (2003) Hum Mutat , vol.22 , pp. 181-182
    • den Dunnen, J.T.1    Paalman, M.H.2
  • 50
    • 0028066825 scopus 로고
    • Structural basis for reduced glomerular filtration capacity in nephrotic humans
    • Drumond MC, Kristal B, Myers BD, Deen WM (1994) Structural basis for reduced glomerular filtration capacity in nephrotic humans. J Clin Invest 94:1187-1195
    • (1994) J Clin Invest , vol.94 , pp. 1187-1195
    • Drumond, M.C.1    Kristal, B.2    Myers, B.D.3    Deen, W.M.4
  • 51
    • 0014819357 scopus 로고
    • Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy
    • Similä S, Vesa L, Wasz-Höckert O (1970) Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. Pediatrics 46:61-65
    • (1970) Pediatrics , vol.46 , pp. 61-65
    • Similä, S.1    Vesa, L.2    Wasz-Höckert, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.