A novel model of autosomal dominant Alport syndrome in Dalmatian dogs

Nephrology Dialysis Transplantation

Volumn 17, Issue 12, 2002, Pages 2094-2098

  Hood, Jennifer C ^a   Huxtable, Clive ^a   Naito, Ichiro ^b   Smith, Carole ^c   Sinclair, Roger ^c   Savige, Judy ^d  

^a MURDOCH UNIVERSITY   (Australia)

^b Shigei Medical Research Institute   (Japan)

^c AUSTIN HEALTH   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Autosomal dominant Alport syndrome; Dalmation dogs; Glomerular basement membrane; Hereditary nephritis

Indexed keywords

COLLAGEN TYPE 4; CREATININE; MYOSIN HEAVY CHAIN;

ALPORT SYNDROME; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BREED DIFFERENCE; CELL VACUOLE; CONTROLLED STUDY; CREATININE URINE LEVEL; DISEASE SEVERITY; DOG; EYE DISEASE; FEMALE; GENE MUTATION; GLOMERULUS BASEMENT MEMBRANE; HEARING IMPAIRMENT; HISTOPATHOLOGY; HYALINE DEGENERATION; KIDNEY FAILURE; KIDNEY FIBROSIS; KIDNEY INTERSTITIUM; LEUKOCYTE; MALE; NEPHRITIS; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; SCLEROSIS; THROMBOCYTE COUNT; ULTRASTRUCTURE; X CHROMOSOME LINKAGE; ANIMAL; BASEMENT MEMBRANE; DISEASE MODEL; DOMINANT GENE; ECHOGRAPHY; FETUS; GENETICS; GLOMERULUS; KIDNEY; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY; PRENATAL DEVELOPMENT;

ANIMALS; BASEMENT MEMBRANE; DISEASE MODELS, ANIMAL; DOGS; FETUS; GENES, DOMINANT; KIDNEY; KIDNEY GLOMERULUS; MALE; NEPHRITIS, HEREDITARY;

EID: 0036901002     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/17.12.2094     Document Type: Article

References (23)

1. Grunfeld JP, Bois E, Hinglais N. Progressive and nonprogressive hereditary chronic nephritis. Kidney Int 1973; 4: 216-228
2. Atkin CI, Gregory MC, Border WA. Alport syndrome. In: Schreier RW, Gottschalk CW, eds. Diseases of the Kidney. Little, Brown and Co., Boston, 1988; 617-641
3. Hinglais N, Grunfeld J-P, Bois E. Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 1972; 27: 473-487
4. Barker DF, Hostikka SL, Zhou J et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990; 248: 1224-1227
5. Nakanishi K, Yoshikawa N, Iijima K et al. Immunohistochemical study of α1-5 chains of type IV collagen in hereditary nephritis. Kidney Int 1994; 46: 1413-1421
6. Mochizuki T, Lemmink HH, Mariyama M et al. Identification of mutations in the α3(IV) and α4(IV) collagen gene in autosomal recessive Alport syndrome. Nature Genet 1994; 8: 77-82
7. Gubler MC, Knebelman B, Beziau A et al. Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 1995; 47: 1142-1147
8. van der Loop FTL, Heidet L, Timmer EDJ et al. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int 2000; 58: 1870-1875
9. Ciccarese M, Casu D, Wong FK et al. Identification of a new mutation in the α4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolemia. Nephrol Dial Transplant 2001; 16: 2008-2012
10. Naito I, Nomura S, Inoue S et al. Normal distribution of collagen type IV in renal basement membranes in Epstein's syndrome. J Clin Pathol 1997; 50: 919-922
11. Epstein CJ, Sahud MA, Piel CF et al. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 1972; 52: 299-310
12. Peterson LC, Rao KV, Crosson JT, White JG. Fechtner syndrome a variant of Alport's syndrome with leucocyte inclusions and macrothombocytopenia. Blood 1985; 65: 397-406
13. Seri M, Cusano R, Gangarossa S et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nature Genet 2000; 26: 103-105
14. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutations of MYH9, encoding non-muscle myosin heavy chain A, in May Hegglin anomaly. Nature Genet 2000; 26: 106-109
15. Janssen BS, Thorner PS, Singh A et al. Hereditary nephritis in Samoyed dogs. Am J Pathol 1984; 116: 175-178
16. Lees G, Heiman RG, Kashtan CE et al. A new form of X-linked dominant hereditary nephritis in dogs. Am J Vet Res 1999; 60: 373-383
17. Lees GE, Helman G, Kashtan CE et al. A model of autosomal recessive Alport syndrome in English cocker spaniel dogs. Kidney Int 1998; 54: 706-719
18. Hood JC, Robinson WF, Huxtable CR, Bradley CR, Sutherland RJ, Thomas MAB. Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene. Vet Record 1990; 126: 456-459
19. Hood JC, Savige J, Hendtlass A, Kleppel MM, Huxtable CR, Robinson WF. Bull terrier hereditary nephritis: a model for autosomal dominant Alport syndrome. Kidney Int 1995; 47: 758-765
20. Hood JC, Robinson WF, Clark WF et al. Proteinuria as an indicator of early renal disease in Bull terriers with hereditary nephritis. J Small Animal Practice 1991; 32: 241-248
21. Hood J, Savige JA, Dowling J et al. Ultrastructural appearance of renal and other basement membranes in the Bull terrier model of autosomal dominant hereditary nephritis. Am J Kidney Dis 2000; 36: 378-391
22. Jais JP, Knebelmann B, Giatras I et al. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 2000; 11: 649-657
23. Hood JC, Dawling J, Bertram JF et al. Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers. Nephrol Dial Transplant 2002; 17: 1897-1908