Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

C3-Glomerulonephritis

Die Dense Deposit Disease ist eine glomeruläre Erkrankung der alternativen Complementaktivierung (C3-Glomerulopathie) wo sich die Complement-Ablagerungen mesangial, subendothelial, subepithelial und intramembranös befinden.

Gliederung

C3 Glomerulopathie
C3-Glomerulonephritis
ADAMTS13
C1QA
C1QB
C1QC
C3
CD46
CFB
CFD
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CLU
DGKE
PIGA
THBD
Dense Deposit Disease

Referenzen:

1.

Sánchez-Corral P et al. (2000) Molecular basis for factor H and FHL-1 deficiency in an Italian family.

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2.

Ault BH et al. (2000) Factor H and the pathogenesis of renal diseases.

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3.

Pickering MC et al. (2002) Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H.

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4.

Hegasy GA et al. (2002) The molecular basis for hereditary porcine membranoproliferative glomerulonephritis type II: point mutations in the factor H coding sequence block protein secretion.

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5.

Dragon-Durey MA et al. (2004) Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.

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6.

Abrera-Abeleda MA et al. (2006) Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).

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7.

Licht C et al. (2006) Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II).

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8.

Servais A et al. (2007) Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.

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9.

Levy M et al. (1986) H deficiency in two brothers with atypical dense intramembranous deposit disease.

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10.

Brai M et al. (1988) Combined homozygous factor H and heterozygous C2 deficiency in an Italian family.

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11.

Vogt BA et al. (1995) Inherited factor H deficiency and collagen type III glomerulopathy.

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12.

Høgåsen K et al. (1995) Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency.

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13.

Ault BH et al. (1997) Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism.

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14.

Nielsen HE et. al. (1989) Hereditary, complete deficiency of complement factor H associated with recurrent meningococcal disease.

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15.

Wyatt RJ et al. (1982) Partial H (beta 1H) deficiency and glomerulonephritis in two families.

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16.

Fijen CA et al. (1996) Heterozygous and homozygous factor H deficiency states in a Dutch family.

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17.

Welch TR et al. (2002) Complement in glomerulonephritis.

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18.

Appel GB et al. (2005) Membranoproliferative glomerulonephritis type II (dense deposit disease): an update.

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19.

Xiao X et. al. (2014) C3 glomerulopathy: the genetic and clinical findings in dense deposit disease and C3 glomerulonephritis.

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20.

Redahan L et. al. (2014) Familial MPGN - a case series: a clinical description of familial membranoproliferative glomerulonephritis amongst three Irish families.

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21.

Chen Q et. al. (2014) Complement factor H-related hybrid protein deregulates complement in dense deposit disease.

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22.

Barbour TD et. al. (2013) Dense deposit disease and C3 glomerulopathy.

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