Genetic Abnormalities in Glomerular Function

Seldin and Giebisch's The Kidney: Physiology & Pathophysiology 1-2

Volumn , Issue , 2007, Pages 2447-2475

  Segal, Yoav ^a   Kashtan, Clifford E ^a  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77649207290     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-012088488-9.50088-7     Document Type: Chapter

References (403)

1. Abrahamson D.R., Prettyman A.C., Robert B., St John P.L. Laminin-1 reexpression in Alport mouse glomerular basement membranes. Kidney Int 2003, 63:826-834.
2. Adler L., Mathew R., Futterweit S., et al. Angiotensin converting enzyme inhibitor therapy in children with Alport syndrome: effect on urinary albumin, TGF-beta, and nitrite excretion. BMC Nephrol 2002, 3:2.
3. Akasaka Y., Kikuchi H., Nagai T., Hiraoka N., Kato S., Hata J. A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome. FEBS Lett 1993, 317:39-43.
4. Alving B.M., Tarasoff P.G., Moore J., Leissenger C.A., Fernandez-Bueno C. Successful renal transplantation for Epstein syndrome. Am J Hematol 1986, 21:111-113.
5. Anderson W. A case of "angio-keratoma". Br J Dermatol 1898, 10:113-117.
6. Antignac C., Heidet L. Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis. Contrib Nephrol 1996, 117:172-182.
7. Antignac C., Knebelmann B., Druout L., et al. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome: characterization of the pathological transcripts in non-renal cells and correlation with di. J Clin Invest 1994, 93:1195-1207.
8. Antignac C., Zhou J., Sanak M., et al. Alport syndrome and diffuse leiomyomatosis: Deletions in the 5' end of the COL4A5 gene. Kidney Int 1992, 42:1178-1183.
9. Antonovych T.T., Deasy P.F., Tina L.U., D'Albora J.B., Hollerman C.E., Calcagno P.L. Hereditary nephritis: early clinical, functional and morphological studies. Pediatr Res 1969, 3:545-556.
10. Arnott E.J., Crawfurd M.D.A., Toghill P.J. Anterior lenticonus and Alport's syndrome. Br J Ophthalmol 1966, 50:390-403.
11. Arrondel C., Vodovar N., Knebelmann B., et al. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndrome. J Am Soc Nephrol 2002, 13:65-74.
12. Aucella F., De B.onis P., Gatta G., et al. Molecular analysis of NPHS2 and ACTN4 genes in a series of 33 Italian patients affected by adult-onset nonfamilial focal segmental glomerulosclerosis. Nephron Clin Pract 2005, 99:c31-c36.
13. Aumailley M., Wiedemann H., Mann K., Timpl R. Binding of nidogen and the lamininnidogen complex to basement membrane collagen type IV. Eur J Biochem 1989, 184:241-248.
14. Autio-Harmainen H., Rapola J. Renal pathology of fetuses with congenital nephrotic syndrome of the Finnish type. A qualitative and quantitative light microscopic study. Nephron 1981, 29:158-163.
15. Badenas C., Praga M., Tazon B., et al. Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria. J Am Soc Nephrol 2002, 13:1248-1254.
16. Barbaux S., Niaudet P., Gubler M.C., et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 1997, 17:467-470.
17. Barbosa A.S., Hadjiathanasiou C.G., Theodoridis C., et al. The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. Hum Mutat 1999, 13:146-153.
18. Beck M., Ricci R., Widmer U., et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 2004, 34:838-844.
19. Beltcheva O., Martin P., Lenkkeri U., Tryggvason K. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 2001, 17:368-373.
20. Ben-Bassat M., Cohen L., Rosenfeld J. The glomerular basement membrane in the nail-patella syndrome. Arch Pathol 1971, 92:350-355.
21. Benzing T. Signaling at the slit diaphragm. J Am Soc Nephrol 2004, 15:1382-1391.
22. Berheim J., Dechavanne M., Bryon P.A., et al. Thrombocytopenia, macrothrombocytopathia, nephritis and deafness. Am J Med 1976, 61:145-150.
23. Bernstein H.S, Bishop D.F, Astrin K.H., et al. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest 1989, 83:1390-1399.
24. Bertelli R., Ginevri F., Caridi G., et al. Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin. Am J Kidney Dis 2003, 41:1314-1321.
25. Bickmore W.A., Oghene K., Little M.H., Seawright A., van Heyningen V., Hastie N.D. Modulation of DNA binding specificity by alternative splicing of the Wilms tumor wt1 gene transcript. Science 1992, 257:235-237.
26. Bishop D.F., Calhoun D.H., Bernstein H.S., Hantzopoulos P., Quinn M., Desnick R.J. Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. Proc Natl Acad Sci U S A 1986, 83:4859-4863.
27. Blumenthal S.S., Fritsche C., Lemann J. Establishing the diagnosis of benign familial hematuria: the importance of examining the urine sediment of family members. JAMA 1988, 259:2263-2266.
28. Bohrer N., Churg J., Gribetz D. Glomerulonephritis in two sets of identical twins. Am J Med 1964, 36:787-794.
29. Bongers E.M., Gubler M.C., Knoers N.V. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol 2002, 17:703-712.
30. Borel F., Barilla K.C., Hamilton T.B., Iskandar M., Romaniuk P.J. Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1. Biochemistry 1996, 35:12070-12076.
31. Boutaud A., Borza D.B., Bondar O., et al. Type IV collagen of the glomerular basement membrane: evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains. J Biol Chem 2000, 275:30716-30724.
32. Boute N., Gribouval O., Roselli S., et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 2000, 24:349-354.
33. Boyd C.D., Toth-Fejel S., Gadi I.K., et al. The genes coding for human pro alpha 1(IV) and pro alpha 2(IV) collagen are both located at the end of the long arm of chromosome 13. Am J Hum Genet 1988, 42:309-314.
34. Boye E., Mollet G., Forestier L., et al. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. Am J Hum Genet 1998, 63:1329-1340.
35. Brady R.O., Tallman J.F., Johnson W.G., et al. Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med 1973, 289:9-14.
36. Brainwood D., Kashtan C., Gubler M.C., Turner A.N. Targets of alloantibodies in Alport anti-glomerular basement membrane disease after renal transplantation. Kidney Int 1998, 53:762-766.
37. Brivet F., Girot R., Barbanel C., Maier M., Crosnier J. Hereditary nephritis associated with May-Hegglin anomaly. Nephron 1981, 29:59-62.
38. Brownell R.D., Wolter J.R. Anterior lenticonus in familial hemorrhagic nephritis: demonstration of lens pathology. Arch Ophthalmol 1964, 71:481-483.
39. Butkowski R.J., Langeveld J.PM., Weislander J., Hamilton J., Hudson B.G. Localization of the Goodpasture epitope to a novel chain of basement membrane collagen. J Biol Chem 1987, 262:7874-7877.
40. Buzza M., Wang Y.Y., Dagher H., et al. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome. Kidney Int 2001, 60:480-483.
41. Buzza M., Wilson D., Savige J. Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome. Kidney Int 2001, 59:1670-1676.
42. Caggana M., Ashley G.A., Desnick R.J., Eng C.M. Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. Am J Med Genet 1997, 71:329-335.
43. Call K.M., Glaser T., Ito C.Y., et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 1990, 60:509-520.
44. Callis L., Vila A., Carrera M., Nieto J. Long-term effects of cyclosporine A in Alport's syndrome. Kidney Int 1999, 55:1051-1056.
45. Callis L., Vila A., Nieto J., Fortuny G. Effect of cyclosporin A on proteinuria in patients with Alport's syndrome. Pediatr Nephrol 1992, 6:140-144.
46. Cargill M., Altshuler D., Ireland J., et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999, 22:231-238.
47. Caricasole A., Duarte A., Larsson S.H., et al. RNA binding by the Wilms tumor suppressor zinc finger proteins. Proc Natl Acad Sci U S A 1996, 93:7562-7566.
48. Caridi G., Berdeli A., Dagnino M., et al. Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin. Am J Kidney Dis 2004, 43:727-732.
49. Caridi G., Bertelli R., Carrea A., et al. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 2001, 12:2742-2746.
50. Caridi G., Bertelli R., Di Duca M., et al. Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 2003, 14:1278-1286.
51. Caridi G., Bertelli R., Scolari F., Sanna-Cherchi S., Di Duca M., Ghiggeri G.M. Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood. Kidney Int 2003, 64:365.
52. Castagnaro M., Alroy J., Ucci A.A., Jaffe R. Lectin histochemistry and ultrastructure of kidneys from patients with I-cell disease. Arch Pathol Lab Med 1987, 111:285-290.
53. Charbit M., Dechaux M., Gagnadoux M., Grunfeld J., Niaudet P. Cyclosporine A therapy in Alport syndrome. J Am Soc Nephrol 2003, 14:111A.
54. Chatterjee S., Gupta P., Pyeritz R.E., Kwiterovich P.O. Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Am J Clin Pathol 1984, 82:24-28.
55. Chen D., Jefferson B., Harvey S.J., et al. Cyclosporine A slows the progressive renal disease of Alport syndrome (X-linked hereditary nephritis): results from a canine model. J Am Soc Nephrol 2003, 14:690-698.
56. Chen H., Lun Y., Ovchinnikov D., et al. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nat Genet 1998, 19:51-55.
57. Chen Y.T., Coleman R.A., Scheinman J.I., Kolbeck P.C., Sidbury J.B. Renal disease in type I glycogen storage disease. N Engl J Med 1988, 318:7-11.
58. Cheong H.I., Kashtan C.E., Kim Y., Kleppel M.M., Michael A.F. Immunohistologic studies of type IV collagen in anterior lens capsules of patients with Alport syndrome. Lab Invest 1994, 70:553-557.
59. Churg J., Sherman R.L. Pathologic characteristics of hereditary nephritis. Arch Pathol 1973, 95:374-379.
60. Ciccarese M., Casu D., Wong F.K., et al. Identification of a new mutation in the a4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia. Nephrol Dial Transpl 2001, 16:2008-2012.
61. Clare N.M., Montiel M.M., Lifschitz M.D., Bannayan G.A. Alport's syndrome associated with macrothrombocytopenic thrombocytopenia. Am J Clin Pathol 1979, 72:111-117.
62. Clarke J.T., Guttmann R.D., Wolfe L.S., Beaudoin J.G., Morehouse D.D. Enzyme replacement therapy by renal allotransplantation in Fabry's disease. N Engl J Med 1972, 287:1215-1218.
63. Cochat P., Guibad P., Garcia Torres R., Roussel B., Guarner V., Larbre F. Diffuse leiomyomatosis in Alport syndrome. J Pediatr 1988, 113:339-343.
64. Cohen E.P., Lemann J. In hereditary nephritis angiotensin-converting enzyme inhibition decreases proteinuria and may slow the rate of progression. Am J Kidney Dis 1996, 27:199-203.
65. Colognato H., Yurchenco P.D. Form and function: the laminin family of heterotrimers. Dev Dyn 2000, 218:213-234.
66. Colville D., Savige J., Morfis M., et al. Ocular manifestations of autosomal recessive Alport syndrome. Ophthalmic Genet 1997, 18:119-128.
67. Colville D.J., Savige J. Alport syndrome: a review of the ocular manifestations. Ophthalmic Genet 1997, 18:161-173.
68. Coppes M.J., Huff V., Pelletier J. Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. J Pediatr 1993, 123:673-678.
69. Coppes M.J., Liefers G.J., Higuchi M., Zinn A.B., Balfe J.W., Williams B.R. Inherited WT1 mutation in Denys-Drash syndrome. Cancer Res 1992, 52:6125-6128.
70. Cosgrove D., Rodgers K., Meehan D., et al. Integrin alpha1beta1 and transforming growth factor-beta 1 play distinct roles in Alport glomerular pathogenesis and serve as dual targets for metabolic thera. Am J Pathol 2000, 157:1649-1659.
71. Davies J.P., Eng C.M., Hill J.A., et al. Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries. Eur J Hum Genet 1996, 4:219-224.
72. Dawson G., Kruski A.W., Scanu A.M. Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res 1976, 17:125-131.
73. Dehbi M., Ghahremani M., Lechner M., Dressler G., Pelletier J. The paired-box transcription factor, PAX2, positively modulates expression of the Wilms' tumor suppressor gene (WT1). Oncogene 1996, 13:447-453.
74. Dehbi M., Pelletier J. PAX8-mediated activation of the wt1 tumor suppressor gene. EMBO J 1996, 15:4297-4306.
75. Del Pozo E., Lapp H. Ultrastructure of the kidney in the nephropathy of the nail-patella syndrome. Am J Clin Pathol 1970, 54:845-885.
76. Delwel G.O., de M.elker AA., Hogervorst F., et al. Distinct and overlapping ligand specificities of the alpha 3A beta 1 and alpha 6A beta 1 integrins: recognition of laminin isoforms. Mol Biol Cell 1994, 5:203-215.
77. Denamur E., Bocquet N., Baudouin V., et al. WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. Kidney Int 2000, 57:1868-1872.
78. Denys P., Malvaux P., Van Den Berghe H., Tanghe W., Proesmans W. Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism. Arch Fr Pediatr 1967, 24:729-739.
79. Desnick R.J., Allen K.Y., Simmons R.L., Najarian J.S., Krivit W. Treatment of Fabry's disease: correction of the enzymatic deficiency by renal transplantation. J Lab Clin Med 1971, 78:989-990.
80. Desnick R.J., Bernstein H.S., Astrin K.H., Bishop D.F. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes. Enzyme 1987, 38:54-64.
81. Desnick R.J., Brady R., Barranger J., et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003, 138:338-346.
82. Desnick R.J., Brady R.O. Fabry disease in childhood. J Pediatr 2004, 144(Suppl 5):S20-S26.
83. Desnick R.J., Dawson G., Desnick S.J., Sweeley C.C., Krivit W. Diagnosis of glycosphingolipidoses by urinary-sediment analysis. N Engl J Med 1971, 284:739-744.
84. Desnick R.J., Dean K.J., Grabowski G., Bishop D.F., Sweeley C.C. Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. Proc Natl Acad Sci U S A 1979, 76:5326-5330.
85. Desnick R.J., Ioannou Y.A., Eng C.M. a-galactosidase A deficiency: Fabry disease. The Metabolic and Molecular Basis of Inherited Disease 1995, 2741-2784. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
86. Dey B.R., Sukhatme V.P., Roberts A.B., Sporn M.B., Rauscher F.J., Kim S.J. Repression of the transforming growth factor-beta 1 gene by the Wilms' tumor suppressor WT1 gene product. Mol Endocrinol 1994, 8:595-602.
87. Ding J., Stitzel J., Berry P., Hawkins E., Kashtan C. Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephr. J Am Soc Nephrol 1995, 5:1714-1717.
88. Dische F.E. Measurement of glomerular basement membrane thickness and its application to the diagnosis of thin-membrane nephropathy. Arch Pathol Lab Med 1992, 116:43-49.
89. Dische F.E., Weston M.J., Parsons V. Abnormally thin glomerular basement membranes associated with hematuria, proteinuria or renal failure in adults. Am J Nephrol 1985, 5:103-109.
90. Dolz R., Engel J., Kuhn K. Folding of collagen IV. Eur J Biochem 1988, 178:357-366.
91. Donati D., Novario R., Gastaldi L. Natural history and treatment of uremia secondary to Fabry's disease: a European experience. Nephron 1987, 46:353-359.
92. Drash A., Sherman F., Hartmann W.H., Blizzard R.M. A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J Pediatr 1970, 76:585-593.
93. Dreyer S.D., Morello R., German M.S., et al. LMX1B transactivation and expression in nail-patella syndrome. Hum Mol Genet 2000, 9:1067-1074.
94. Dreyer S.D., 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.
95. Drummond I.A., Madden S.L., Rohwer-Nutter P., Bell G.I., Sukhatme V.P., Rauscher F.J. Repression of the insulin-like growth factor II gene by the Wilms tumor suppressor WT1. Science 1992, 257:674-678.
96. Dustin M.L., Olszowy M.W., Holdorf A.D., et al. A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts. Cell 1998, 94:667-677.
97. Dvorak A.M., Cable W.J., Osage J.E., Kolodny E.H. Diagnostic electron microscopy. II. Fabry's disease: use of biopsies from uninvolved skin. Acute and chronic changes involving the microvasculature and small unmyelinated nerves. Pathol Annu 1981, 16(Pt 1):139-158.
98. Eckstein J.D., Filip D.J., Watts J.C. Hereditary thrombocytopenia, deafness, and renal disease. Ann Intern Med 1975, 82:639-645.
99. Eddy A.A., Mauer S.M. Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): frequency in end-stage renal failure. J Pediatr 1985, 106:584-587.
100. Eng C.M., Ashley G.A., Burgert T.S., Enriquez A.L., D'Souza M., Desnick R.J. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997, 3:174-182.
101. Eng C.M., Banikazemi M., Gordon R.E., et al. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001, 68:711-722.
102. Eng C.M., Desnick R.J. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 1994, 3:103-111.
103. Eng C.M., Guffon N., Wilcox W.R., et al. Safety and efficacy of recombinant human alphagalactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001, 345:9-16.
104. Eng C.M., Resnick-Silverman L.A., Niehaus D.J., Astrin K.H., Desnick R.J. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 1993, 53:1186-1197.
105. Englert C., Hou X., Maheswaran S., et al. WT1 suppresses synthesis of the epidermal growth factor receptor and induces apoptosis. EMBO J 1995, 14:4662-4675.
106. Englert C., Maheswaran S., Garvin A.J., Kreidberg J., Haber D.A. Induction of p21 by the Wilms' tumor suppressor gene WT1. Cancer Res 1997, 57:1429-1434.
107. Epstein C.J., Sahud M.A., Piel C.F., et al. Hereditary macrothrombocytopenia, nephritis and deafness. Am J Med 1972, 52:299-310.
108. Fabry J. Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 1898, 43:187-200.
109. Faraggiana T., Churg J., Grishman E., et al. Light- and electron-microscopic histochemistry of Fabry's disease. Am J Pathol 1981, 103:247-262.
110. Farboody G.H., Valenzuela R., McCormack L.J., Kallaen R., Osborne D.G. Chronic hereditary nephritis: a clinicopathologic study of 23 new kindreds and review of the literature. Hum Pathol 1979, 10:655-668.
111. Feingold J., Bois E., Chompret A., Broyer M., Gubler M.C., Grunfeld J.P. Genetic heterogeneity of Alport syndrome. Kidney Int 1985, 27:672-677.
112. Friedlaender M.M., Kopolovic J., Rubinger D., et al. Renal biopsy in Fabry's disease eight years after successful renal transplantation. Clin Nephrol 1987, 27:206-211.
113. Frishberg Y., Rinat C., Megged O., Shapira E., Feinstein S., Raas-Rothschild A. Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 2002, 13:400-405.
114. Fuchshuber A., Jean G., Gribouval O., et al. Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet 1995, 4:2155-2158.
115. Fukushima M., Tsuchiyama Y., Nakato T., et al. A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. Am J Kidney Dis 1995, 26:952-955.
116. Garcia Torres R., Guarner V. Leiomiomatosis del esofago traqueo b.ronquial y genital asociada con nefropatia hereditaria tipo Alport: un nuevo syndrome. Rev Gastroenterol Mex 1983, 70:163-170.
117. Garcia-Torres R., Cruz D., Orozco L., Heidet L., Gubler M.C. Alport syndrome and diffuse leiomyomatosis: clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis. Nephrologie 2000, 21:9-12.
118. Gashler A.L., Bonthron D.T., Madden S.L., Rauscher F.J, Collins T., Sukhatme V.P. Human platelet-derived growth factor A chain is transcriptionally repressed by the Wilms tumor suppressor WT1. Proc Natl Acad Sci U S A 1992, 89:10984-10988.
119. Gessler M., Konig A., Bruns G.A. The genomic organization and expression of the WT1 gene. Genomics 1992, 12:807-813.
120. Gjone E. Familial lecithin:cholesterol acyltransferase deficiency-a new metabolic disease with renal involvement. Adv Nephrol Necker Hosp 1981, 10:167-185.
121. Glastre C., Cochat P., Bouvier R., et al. Familial infantile nephrotic syndrome with ocular abnormalities. Pediatr Nephrol 1990, 4:340-342.
122. Gobel J., Olbricht C.J., Offner G., et al. Kidney transplantation in Alport's syndrome: long-term outcome and allograft anti-GBM nephritis. Clin Nephrol 1992, 38:299-304.
123. Govan J.A.A. Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes. Br J Ophthalmol 1983, 67:493-503.
124. Grodecki K.M., Gains M.J., Baumal R., Osmond D.H., Cotter B., Valli V.E.O., Jacobs R.M. Treatment of X-linked hereditary nephritis in Samoyed dogs with angiotensin converting enzyme inhibitor. J Comp Pathol 1997, 117:209-225.
125. Gross O., Beirowski B., Koepke M.L., et al. Preemptive ramipril therapy delays renal failure and reduces renal fibrosis in COL4A3-knockout mice with Alport syndrome. Kidney Int 2003, 63:438-446.
126. Gross O., Netzer K.O., Lambrecht R., Seibold S., Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clnical counseling. Nephrol Dial Transpl 2002, 17:1218-1227.
127. Gross O., Schulze-Lohoff E., Koepke M.L., et al. Antifibrotic, nephroprotective potential of ACE inhibitor vs AT1 antagonist in a murine model of renal fibrosis. Nephrol Dial Transplant 2004, 19:1716-1723.
128. Grunfeld J.-P., Bois E.P., Hinglais N. Progressive and non-progressive hereditary nephritis. Kidney Int 1973, 4:216-228.
129. Grunfeld J.-P., Noel L.H., Hafez S., Droz D. Renal prognosis in women with hereditary nephritis. Clin Nephrol 1985, 23:267-271.
130. Gubler M., Levy M., Broyer M., et al. Alport's syndrome: a report of 58 cases and a review of the literature. Am J Med 1981, 70:493-505.
131. Gubler M.C., Dommergues J.P., Foulard M., et al. Collagen type III glomerulopathy: a new type of hereditary nephropathy. Pediatr Nephrol 1993, 7:354-360.
132. Gubler M.C., Knebelmann B., Beziau A., et al. Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution. Kidney Int 1995, 47:1142-1147.
133. Gubler M.C., Lenoir G., Grunfeld J.P., Ulmann A., Droz D., Habib R. Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Int 1978, 13:223-235.
134. Guo C., Van Damme B., Vanrenterghem Y., Devriendt K., Cassiman J.-J., Marynen P. Severe Alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele. J Clin Invest 1995, 95:1832-1837.
135. Gupta M.C., Graham P.L., Kramer J.M. Characterization of a1(IV) collagen mutations in Caenorhabditis elegans and the effects of a1 and a2(IV) mutations on type IV collagen distribution. J Cell Biol 1997, 137:1185-1196.
136. Haber D.A., Englert C., Maheswaran S. Functional properties of WT1. Med Pediatr Oncol 1996, 27:453-455.
137. Habib R., Gubler M.C., Hinglais N., et al. Alport's syndrome: experience at Hôpital Necker. Kidney Int 1982, 21:S20-S28.
138. Habib R., Loirat C., Gubler M.C., et al. The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion-report of 10 cases. Clin Nephrol 1985, 24:269-278.
139. Hamlington J.D., Jones C., McIntosh I. Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. Hum Mutat 2001, 18:458.
140. Hammes A., Guo J.K., Lutsch G., et al. Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell 2001, 106:319-329.
141. Hansen M.S., Behnke O., Pedersen N.T., Videbaek A. Macrothrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis. Scand J Hematol 1978, 21:197-205.
142. Harvey S.J., Zheng K., Jefferson B., et al. Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syn. Am J Pathol 2003, 162:873-875.
143. Harvey S.J., Zheng K., Sado Y., et al. Role of distinct type IV collagen networks in glomerular development and function. Kidney Int 1998, 54:1857-1866.
144. Hasstedt S.J., Atkin C.L., San Juan A.C. Genetic heterogeneity among kindreds with Alport syndrome. Am J Hum Genet 1986, 38:940-953.
145. Hawkins C.F., Smith O.E. Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. Lancet 1950, I:803-808.
146. Heathcott R.W., Morison I.M., Gubler M.C., Corbett R., Reeve A.E. A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X. Hum Mutat 2002, 19:462.
147. Heidet L., Arrondel C., Forestier L., et al. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol 2001, 12:97-106.
148. Heidet L., Bongers E.M., Sich M., et al. In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. Am J Pathol 2003, 163:145-155.
149. Heidet L., Cohen-Solal L., Boye E., et al. Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region. Cytogenet Cell Genet 1997, 78:240-246.
150. Heidet L., Dahan K., Zhou J., et al. Deletions of both a5(IV) and a6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumors. Hum Mol Genet 1995, 4:99-108.
151. Heikkila P., Parpala T., Lukkarinen O., Weber M., Tryggvason K. Adenovirus-mediated gene transfer into kidney glomeruli using an ex vivo and in vivo kidney perfusion system-first step towards gene therapy of Alport syndr. Gene Ther 1996, 3:21-27.
152. Heiskari N., Zhang X., Zhou J., et al. Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome. J Am Soc Nephrol 1996, 7:702-709.
153. Heppe R.K., Koyle M.A., Beckwith J.B. Nephrogenic rests in Wilms tumor patients with the Drash syndrome. J Urol 1991, 145:1225-1228.
154. Hill G.S., Jenis E.H., Goodloe S.G. The nonspecificity of the ultrastructural alterations in hereditary nephritis. Lab Invest 1974, 31:516-532.
155. Hinglais N., Grunfeld J.-P., Bois L.E. Characteristic ultrastructural lesion of the glomerular basement membrane in progressive hereditary nephritis (Alport's syndrome). Lab Invest 1972, 27:473-487.
156. Hofstaetter C., Neumann I., Lennert T., Dudenhausen J.W. Prenatal diagnosis of diffuse mesangial glomerulosclerosis by ultrasonography: a longitudinal study of a case in an affected family. Fetal Diagn Ther 1996, 11:126-131.
157. Holmberg C., Antikainen M., Ronnholm K., Ala Houhala M., Jalanko H. Management of congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 1995, 9:87-93.
158. Holmes G., Boterashvili S., English M., Wainwright B., Licht J., Little M. Two N-terminal self-association domains are required for the dominant negative transcriptional activity of WT1 Denys-Drash mutant proteins. Biochem Biophys Res Commun 1997, 233:723-728.
159. Honda K., Yamada T., Endo R., et al. Actinin-4, a novel actin-bundling protein associated with cell motility and cancer invasion. J Cell Biol 1998, 140:1383-1393.
160. Hostikka S.L., Eddy R.L., Byers M.G., Hoyhtya M., Shows T.B., Tryggvason K. Identification of a distinct type IV collagen a chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome. Proc Natl Acad Sci U S A 1990, 87:1606-1610.
161. Hoyer J.R., Michael A.F., Vernier R.L. Renal disease in nail-patella syndrome: clinical and morphologic studies. Kidney Int 1972, 2:231-238.
162. Hu M., Zhang G.Y., Arbuckle S., et al. Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene. Nephrol Dial Transplant 2004, 19:223-226.
163. Huber T.B., Hartleben B., Kim J., et al. Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling. Mol Cell Biol 2003, 23:4917-4928.
164. Huber T.B., Kottgen M., Schilling B., Walz G., Benzing T. Interaction with podocin facilitates nephrin signaling. J Biol Chem 2001, 276:41543-41546.
165. Huber T.B., Simons M., Hartleben B., et al. Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 2003, 12:3397-3405.
166. Hudson B.G., Kalluri R., Gunwar S., et al. The pathogenesis of Alport syndrome involves type IV collagen molecules containing the a3(IV) chain: evidence from anti-GBM nephritis after renal transplantation. Kidney Int 1992, 42:179-187.
167. Hudson B.G., Reeders S.T., Tryggvason K. Type IV collagen: structure, gene organization, and role in human diseases. J Biol Chem 1993, 268:26033-26036.
168. Hudson B.G., Trygvasson K., Sundaramoorthy M., Neilson E.G. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med 2003, 348:2456-2543.
169. Huttunen N.P. Congenital nephrotic syndrome of Finnish type. Study of 75 patients. Arch Dis Child 1976, 51:344-348.
170. Huttunen N.P., Rapola J., Vilska J., Hallman N. Renal pathology in congenital nephrotic syndrome of Finnish type: a quantitative light microscopic study on 50 patients. Int J Pediatr Nephrol 1980, 1:10-16.
171. Inoue Y., Nishio H., Shirakawa T., et al. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. Am J Kidney Dis 1999, 34:854-862.
172. Ioannou Y.A., Zeidner K.M., Gordon R.E., Desnick R.J. Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. Am J Hum Genet 2001, 68:14-25.
173. Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A report of the International Study of Kidney Disease in Children. Kidney Int 1981, 20:765-771. ISKDC.
174. Jadresic L., Leake J., Gordon I., et al. Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome). J Pediatr 1990, 117:717-725.
175. Jais J.P., 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.
176. Jais J.P., Knebelmann B., Giatras I., et al. X-linked Alport syndrome: natural history and genotypephenotype correlations in girls and women belonging to to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol 2003, 14:2603-2610.
177. Jeraj K., Kim Y., Vernier R.L., Fish A.J., Michael A.F. Absence of Goodpasture's antigen in male patients with familial nephritis. Am J Kidney Dis 1982, 2:626-629.
178. Kagawa M., Kishiro Y., Naito I., et al. Epitope-defined monoclonal antibodies against type-IV collagen for diagnosis of Alport's syndrome. Nephrol Dial Transpl 1997, 12:1238-1241.
179. Kalluri R., Gunwar S., Reeders S.T., et al. Goodpasture syndrome: localization of the epitope for the autoantibodies to the carboxyl-terminal region of the a3(IV) chain of basement membrane collagen. J Biol Chem 1991, 266:24018-24024.
180. Kalluri R., Shield C.F., Todd P., Hudson B.G., Neilson E.G. Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest 1997, 99:2470-2478.
181. Kaplan J.M., Kim S.H., North K.N., et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 2000, 24:251-256.
182. Karle S.M., Uetz B., Ronner V., Glaeser L., Hildebrandt F., Fuchshuber A. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2002, 13:388-393.
183. Kashtan C., Butkowski R., Kleppel M., First M., Michael A. Posttransplant anti-glomerular basement membrane nephritis in related Alport males with Alport syndrome. J Lab Clin Med 1990, 116:508-515.
184. Kashtan C., Fish A.J., Kleppel M., Yoshioka K., Michael A.F. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis. J Clin Invest 1986, 78:1035-1044.
185. Kashtan C.E. Alport syndrome: is diagnosis only skin deep?. Kidney Int 1999, 55:1575-1576.
186. Kashtan C.E., Gubler M.C., Sisson-Ross S, Mauer M. Chronology of renal scarring in males with Alport syndrome. Pediatr Nephrol 1998, 12:269-274.
187. Kashtan C.E., Kim Y. Distribution of the a1 and a2 chains of collagen IV and of collagens V and VI in Alport syndrome. Kidney Int 1992, 42:115-126.
188. Kashtan C.E., Kim Y., Lees G.E., Thorner P.S., Virtanen I., Miner J.H. Abnormal glomerular basement membrane laminins in murine, canine, and human Alport sydnrome: aberrant laminin alpha2 deposition is species independent. J Am Soc Nephrol 2001, 12:252-260.
189. Kashtan C.E., McEnery P.T., Tejani A., Stablein D.M. Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol 1995, 9:679-684.
190. Kashtan C.E., Michael A.F. Perspectives in clinical nephrology: Alport syndrome. Kidney Int 1996, 50:1445-1463.
191. Kashtan C.E., Nevins T.E., Posalaky Z., Vernier R.L., Fish A.J. Proteinuria in a child with sialidosis: case report and histological studies. Pediatr Nephrol 1989, 3:166-174.
192. Kawamura O., Sakuraba H., Itoh K., et al. Subclinical Fabry's disease occurring in the context of IgA nephropathy. Clin Nephrol 1997, 47:71-75.
193. Kestila M., Jarvela I. Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1). Prenat Diagn 2003, 23:323-324.
194. Kestila M., Lenkkeri U., Mannikko M., et al. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1998, 1:575-582.
195. Kestila M., Mannikko M., Holmberg C., et al. Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet 1994, 54:757-764.
196. Kikkawa Y., Sanzen N., Fujiwara H., Sonnenberg A., Sekiguchi K. Integrin binding specificity of laminin-10/11: laminin-10/11 are recognized by alpha 3 beta 1, alpha 6 beta 1 and alpha 6 beta 4 integrins. J Cell Sci 2000, 113:869-876.
197. Kim J.M., Wu H., Green G., et al. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 2003, 300:1298-1300.
198. Kim K.H., Kim Y., Gubler M.C., et al. Structural-functional relationships in Alport syndrome. J Am Soc Nephrol 1995, 5:1659-1668.
199. Kim Y., Butkowski R., Burke B., et al. Differential expression of basement membrane collagen in membranous nephropathy. Am J Pathol 1991, 139:1381-1388.
200. Kinoshita Y., Morita T., Wada J., et al. Hereditary chronic nephritis (Alport) complicated by nephrotic syndrome. Acta Med Biol 1969, 17:101-117.
201. Kleijer W.J., Hussaarts-Odijk L.M., Sachs E.S., Jahoda M.G., Niermeijer M.F. Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi. Prenat Diagn 1987, 7:283-287.
202. Knebelmann B., Breillat C., Forestier L., et al. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Am J Hum Genet 1996, 59:1221-1232.
203. Knebelmann B., Forestier L., Drouot L., et al. Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. Hum Mol Genet 1995, 4:675-679.
204. Knoers N.V., Bongers E.M., van Beersum S.E., Lommen E.J., van Bokhoven H., Hol F.A. Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families. J Am Soc Nephrol 2000, 11:1762-1766.
205. Kobayashi T., Uchiyama M. Characterization of assembly of recombinant type IV collagen alpha3, alpha4, and alpha5 chains in transfected cell strains. Kidney Int 2003, 64:1986-1996.
206. Komatsuda A., Wakui H., Maki N., et al. Analysis of mutations in alpha-actinin 4 and podocin genes of patients with chronic renal failure due to sporadic focal segmental glomerulosclerosis. Ren Fail 2003, 25:87-93.
207. Korhonen M., Ylanne J., Laitinen L., Virtanen I. The alpha 1-alpha 6 subunits of integrins are characteristically expressed in distinct segments of developing and adult human nephron. J Cell Biol 1990, 111:1245-1254.
208. Kornreich R., Bishop D.F., Desnick R.J. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alurich gene. J Biol Chem 1990, 265:9319-9326.
209. Kos C.H., Le T.C., Sinha S., et al. Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest 2003, 111:1683-1690.
210. Kosch M., Koch H.G., Oliveira J.P., et al. Enzyme replacement therapy administered during hemodialysis in patients with Fabry disease. Kidney Int 2004, 66:1279-1282.
211. Kovacevic L., Reid C.J., Rigden S.P. Management of congenital nephrotic syndrome. Pediatr Nephrol 2003, 18:426-430.
212. Koziell A., Grech V., Hussain S., et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 2002, 11:379-388.
213. Krishnamurti U., Chen Y., Michael A., et al. Integrin-mediated interactions between primary/T-SV40 immortalized human glomerular epithelial cells and type IV collagen. Lab Invest 1996, 74:650-657.
214. Kuivaniemi H., Tromp G., Prockop D.J. Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J 1991, 5:2052-2060.
215. Kuvaniemi H., Tromp G., Prockop D.J. Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IV), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 1997, 9:300-315.
216. Lahdenpera J., Kilpelainen P., Liu X.L., et al. Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases. Kidney Int 2003, 64:404-413.
217. Lalwani A.K., Goldstein J.A., Kelley M.J., Luxford W., Castelein C.M., Mhatre A.N. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 2000, 67:1121-1128.
218. Le Sec G., Stanescu R., Lyon G. Un nouveau type de sialidose avec atteinte renale: la nephrosialidose. II. Etude anatomique. Arch Fr Pediatr 1978, 35:830-844.
219. Lemmink H.H., Mochizuki T., van den Heuvel L.P.W.J., et al. Mutations in the type IV collagen a3 (COL4A3) gene in autosomal recessive Alport syndrome. Hum Mol Genet 1994, 3:1269-1273.
220. Lemmink H.H., Nillesen W.N., Mochizuki T., et al. Benign familial hematuria due to mutation of the type IV collagen a4 gene. J Clin Invest 1996, 98:1114-1118.
221. Lemmink H.H., Schröder C.H., Monnens L.A.H., Smeets H.J.M. The clinical spectrum of type IV collagen mutations. Hum Mutat 1997, 9:477-499.
222. Lenkkeri U., Mannikko M., McCready P., et al. Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 1999, 64:51-61.
223. Li C., Ruotsalainen V., Tryggvason K., Shaw A.S., Miner J.H. CD2AP is expressed with nephrin in developing podocytes and is found widely in mature kidney and elsewhere. Am J Physiol Renal Physiol 2000, 279:F785-F792.
224. Linthorst G.E., Hollak C.E., Donker-Koopman W.E., Strijland A., Aerts J.M. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 2004, 66:1589-1595.
225. Little M., Holmes G., Bickmore W., van Heyningen V., Hastie N., Wainwright B. DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations. Hum Mol Genet 1995, 4:351-358.
226. Ljungberg P., Rapola J., Holmberg C., Holthofer H., Jalanko H. Glomerular anionic charge in congenital nephrotic syndrome of the Finnish type. Histochem J 1995, 27:536-546.
227. Longo I., Porcedda P., Mari F., et al. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int 2002, 61:1947-1956.
228. Madden S.L., Cook D.M., Morris J.F., Gashler A., Sukhatme V.P., Rauscher F.J. Transcriptional repression mediated by the WT1 Wilms tumor gene product. Science 1991, 253:1550-1553.
229. Mahan J.D., Mauer S.M., Sibley R.K., Vernier R.L. Congenital nephrotic syndrome: evolution of medical management and results of renal transplantation. J Pediatr 1984, 105:549-557.
230. Maheswaran S., Park S., Bernard A., et al. Physical and functional interaction between WT1 and p53 proteins. Proc Natl Acad Sci U S A 1993, 90:5100-5104.
231. Mannikko M., Kestila M., Lenkkeri U., et al. Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis. Kidney Int 1997, 51:868-872.
232. Mariyama M., Zheng K., Yang-Feng T.L., Reeders S.T. Colocalization of the genes for the a3(IV) and a4(IV) chains of type IV collagen to chromosome 2 bands q35-q37. Genomics 1992, 13:809-813.
233. Maroteaux P., Humbel R., Strecker G., Michalski J.C., Mande R.A.F.P. Un nouveau type de sialidose avec atteinte renale: la nephrosialidose. I. Etude clinique, readiologique et nosologique. Arch Fr Pediatr 1978, 35:819-829.
234. Martin P., Heiskari N., Zhou J., et al. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. J Am Soc Nephrol 1998, 9:2291-2301.
235. Maruyama K., Iijima K., Ikeda M., et al. NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children. Pediatr Nephrol 2003, 18:412-416.
236. Massella L., Rizzoni G. Cyclosporine treatment of young patients with Alport syndrome and proteinuria. J Am Soc Nephrol 2001, 12:116A.
237. Mathis B.J., Calabrese K.E., Slick G.L. Familial glomerular disease with asymptomatic proteinuria and nephrotic syndrome: a new clinical entity. J Am Osteopath Assoc 1992, 92:875-880.
238. Matsuzawa-Watanabe Y., Inoue J., Semba K. Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1. Oncogene 2003, 22:7900-7904.
239. McCoy R.C., Johnson H.K., Stone W.J., Wilson C.B. Absence of nephritogenic GBM antigen(s) in some patients with hereditary nephritis. Kidney Int 1982, 21:642-652.
240. Merchant S.N., Burgess B.J., Adams J.C., et al. Temporal bone histopathology in alport syndrome. Laryngoscope 2004, 114:1609-1618.
241. Meyrier A., Rizzo R., Gubler M.-C. The nail-patella syndrome: a review. J Nephrol 1990, 2:133-140.
242. Mignani R., Panichi V., Giudicissi A., et al. Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney Int 2004, 65:1381-1385.
243. Miner J.H. Renal basement membrane components. Kidney Int 1999, 56:2016-2024.
244. Miner J.H., Morello R., Andrews K.L., et al. Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation. J Clin Invest 2002, 109:1065-1672.
245. Miner J.H., Patton B.L., Lentz S.I., et al. The laminin alpha chains: expression, developmental transitions, and chromosomal locations of alpha1-5, identification of heterotrimeric laminins 8-11, and cloning of a novel alpha3 isoform. J Cell Biol 1997, 137:685-701.
246. Miner J.H., Sanes J.R. Collagen IV a3, a4 and a5 chains in rodent basal laminae: sequence, distribution, association with laminins, and developmental switches. J Cell Biol 1994, 127:879-891.
247. Miner J.H., Yurchenco P.D. Laminin functions in tissue morphogenesis. Annu Rev Cell Dev Biol 2004, 20:255-284.
248. Mino R.A., Mino V.H., Livingstone R.G. Osseous dysplasia and dystrophy of the nail: review of the literature and report of a case. Am J Roentgenol 1948, 6:633-641.
249. Mochizuki T., Lemmink H.H., Mariyama M., et al. Identification of mutations in the a3(IV) and a4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 1994, 8:77-82.
250. Moffett P., Bruening W., Nakagama H., et al. Antagonism of WT1 activity by protein self-association. Proc Natl Acad Sci U S A 1995, 92:11105-11109.
251. Momota R., Sugimoto M., Oohashi T., Kigasawa K., Yoshioka H., Ninomiya Y. Two genes, COL4A3 and COL4A4 coding for the human a3(IV) and a4(IV) chains are arranged head-to-head on chromosome 2q36. FEBS Lett 1998, 424:11-16.
252. Moore D.F., Scott L.T., Gladwin M.T., et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 2001, 104:1506-1512.
253. Moorthy A.V., Chesney R.W., Lubinsky M. Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome-a commentary on reported cases. Am J Med Genet Suppl 1987, 3:297-302.
254. Morello R., Zhou G., Dreyer S.D., et al. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. Nat Genet 2001, 27:205-258.
255. Morris J.F., Madden S.L., Tournay O.E., Cook D.M., Sukhatme V.P., Rauscher F.J. Characterization of the zinc finger protein encoded by the WT1 Wilms' tumor locus. Oncogene 1991, 6:2339-2348.
256. Mosnier J.F., Degott C., Bedrossian J., et al. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation. Transplantation 1991, 51:759-762.
257. Murali R., Ioannou Y.A., Desnick R.J., Burnett R.M. Crystallization and preliminary X-ray analysis of human alpha-galactosidase A complex. J Mol Biol 1994, 239:578-580.
258. Myers J.C., Jones T.A., Pohjolainen E.-R., et al. Molecular cloning of a5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus. Am J Hum Genet 1990, 46:1024-1033.
259. Naito I., Nomura S., Inoue S., et al. Normal distribution of collagen IV in renal basement membranes in Epstein's syndrome. J Clin Pathol 1997, 50:919-922.
260. Nakagama H., Heinrich G., Pelletier J., Housman D.E. Sequence and structural requirements for high-affinity DNA binding by the WT1 gene product. Mol Cell Biol 1995, 15:1489-1498.
261. Nakanishi K., Yoshikawa N., Iijima K., et al. Immunohistochemical study of a1-5 chains of type IV collagen in hereditary nephritis. Kidney Int 1994, 46:1413-1421.
262. Nakao S., Takenaka T., Maeda M., et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995, 333:288-293.
263. Niaudet P. Podocin and nephrotic syndrome: implications for the clinician. J Am Soc Nephrol 2004, 15:832-834.
264. Nielsen C.E. Lenticonus anterior and Alport's syndrome. Arch Ophthalmol 1978, 56:518-530.
265. Nieuwhof C.M., de H.eer F., de Leeuw P., van Breda Vriesman P.J. Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure. Kidney Int 1997, 51:1596-1601.
266. Ninomiya Y., Kagawa M., Iyama K., et al. Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies. J Cell Biol 1995, 130:1219-1229.
267. Nishibori Y., Liu L., Hosoyamada M., et al. Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane. Kidney Int 2004, 66:1755-1765.
268. Nissenson L.R., Friedrich K.P. Outcome of end-stage renal disease in patients with rare causes of renal failure. Inherited and metabolic disorders. Q J Med 1989, 271:1055-1062.
269. Noakes P.G., Gautam M., Mudd J., Sanes J.R., Merlie J.P. Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. Nature 1995, 374:258-262.
270. Noakes P.G., Miner J.H., Gautam M., Cunningham J.M., Sanes J.R., Merlie J.P. The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. Nat Genet 1995, 10:400-406.
271. Ogawa K., Sugamata K., Funamoto N., et al. Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease. Hum Pathol 1990, 21:1067-1073.
272. Ohkubo S., Takeda H., Higashide T., et al. Immunohistochemical and molecular genetic evidence for type IV collagen alpha5 chain abnormality in the anterior lenticonus associated with Alport syndrome. Arch Ophthalmol 2003, 121:846-850.
273. Ohshima T., Murray G.J., Swaim W.D., et al. alpha-Galactosidase A deficient mice: a model of Fabry disease. Proc Natl Acad Sci U S A 1997, 94:2540-2544.
274. Ojo A., Meier-Kriesche H.U., Friedman G., et al. Excellent outcome of renal transplantation in patients with Fabry's disease. Transplantation 2000, 69:2337-2339.
275. Olson D.L., Anand S.K., Landing B.H., Heuser E., Grushkin C.M., Lieberman E. Diagnosis of hereditary nephritis by failure of glomeruli to bind anti-glomerular basement membrane antibodies. J Pediatr 1980, 96:697-699.
276. Otey C.A., Carpen O. Alpha-actinin revisited: a fresh look at an old player. Cell Motil Cytoskeleton 2004, 58:104-111.
277. Palmen T., Lehtonen S., Ora A., et al. Interaction of endogenous nephrin and CD2-associated protein in mouse epithelial M-1 cell line. J Am Soc Nephrol 2002, 13:1766-1772.
278. Parpala-Sparman t., Lukkarinen O., Heikkila P., Tryggvason K. A novel surgical organ perfusion method for effective ex vivo and in vivo gene transfer into renal glomerular cells. Urol Res 1999, 27:97-102.
279. Parsa K.P., Lee D.B.N., Zamboni L., Glassock R.J. Hereditary nephritis, deafness and abnormal thrombopoiesis: study of a new kindred. Am J Med 1976, 60:665-671.
280. Patrakka J., Kestila M., Wartiovaara J., et al. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int 2000, 58:972-980.
281. Patrakka J., Martin P., Salonen R., et al. Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet 2002, 359:1575-1577.
282. Peissel B., Geng L., Kalluri R., et al. Comparative distribution of the a1(IV), a5(IV) and a6(IV) collagen chains in normal human adult and fetal tissues and in kidneys from X-linked Alport syndrome patients. J Clin Invest 1995, 96:1948-1957.
283. Pelletier J., Bruening W., Kashtan C.E., et al. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991, 67:437-447.
284. Pelletier J., Schalling M., Buckler A.J., Rogers A., Haber D.A., Housman D. Expression of the Wilms' tumor gene WT1 in the murine urogenital system. Genes Dev 1991, 5:1345-1356.
285. Pereira A.C., Pereira A.B., Mota G.F., et al. NPHS2 R229Q functional variant is associated with microalbuminuria in the general population. Kidney Int 2004, 65:1026-1030.
286. Perrin D., Jungers P., Grunfeld J.P., Delons S., Noel L.H., Zenatti C. Perimacular changes in Alport's syndrome. Clin Nephrol 1980, 13:163-167.
287. Peten E., Pirson Y., Cosyns J.-P., et al. Outcome of thirty patients with Alport's syndrome after renal transplantation. Transplantation 1991, 52:823-826.
288. Peterson L.C., Rao K.V., Crosson J.T., White J.G. Fechtner syndrome: a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopathia. Blood 1985, 65:397-406.
289. Philippart M., Franklin S.S., Gordon A. Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. Ann Intern Med 1972, 77:195-200.
290. Piccini M., Casari G., Zhou J., et al. Evidence for genetic heterogeneity in benign familial hematuria. Am J Nephrol 1999, 19:464-467.
291. Pierson M., Cordier J., Hervouuet F., Rauber G. An Unusual Congenital and Familial Congenital Malformative Combination Involving the Eye and Kidney. J Genet Hum 1963, 12:184-213.
292. Piez K.A. Molecular and aggregate structures of the collagens. Extracellular Matrix Biochemistry 1984, 1-39. Elsevier, New York. K.A. Piez, A.H. Reddi (Eds.).
293. Polack B.C.P., Hogewind B.L. Macular lesions in Alport's disease. Am J Ophthalmol 1977, 84:533-555.
294. Poschl E., Pollner R., Kuhn K. The genes for the a1(IV) and a2(IV) chains of human basement membrane collagen type IV are arranged head-to-head and separated by a bidirectional promoter of unique structure. EMBO J 1988, 7:2687-2695.
295. Poulat F., Morin D., Konig A., et al. Distinct molecular origins for Denys-Drash and Frasier syndromes. Hum Genet 1993, 91:285-286.
296. Pritchard-Jones K., Fleming S., Davidson D., et al. The candidate Wilms' tumour gene is involved in genitourinary development. Nature 1990, 346:194-197.
297. Prockop D.J. Mutations in collagen genes as a cause of connective-tissue diseases. N Engl J Med 1992, 326:540-546.
298. Proesmans W., Knockaert H., Trouet D. Enalapril in paediatric patients with Alport syndrome: 2 years' experience. Eur J Pediatr 2000, 159:430-433.
299. Proesmans W., Van Dyck M. Enalapril in children with Alport syndrome. Pediatr Nephrol 2004, 19:271-275.
300. Putaala H., Soininen R., Kilpelainen P., Wartiovaara J., Tryggvason K. The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum Mol Genet 2001, 10:1-8.
301. Rana K., Isbel N., Buzza M., et al. Clinical, histopathologic, and genetic studies in nine families with focal segmental glomerulosclerosis. Am J Kidney Dis 2003, 41:1170-1178.
302. Rao V.H., Lees G.H., Kashtan C.E., et al. Increased expression of MMP-2, MMP-9 (type IV collagenases/gelatinases), and MT1-MMP in canine X-linked Alport syndrome (XLAS). Kidney Int 2003, 63:1736-1748.
303. Rauscher F.J. The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor. FASEB J 1993, 7:896-903.
304. Rauscher F.J, Morris J.F., Tournay O.E., Cook D.M., Curran T. Binding of the Wilms' tumor locus zinc finger protein to the EGR-1 consensus sequence. Science 1990, 250:1259-1262.
305. Renieri A., Bruttini M., Galli L., et al. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet 1996, 58:1192-1204.
306. Renieri A., Meroni M., Sessa A., et al. Variability of clinical phenotype in a large Alport family with gly1143-ser change of collagen a5(IV) chain. Nephron 1994, 67:444-449.
307. Rennke H.G. How does glomerular epithelial cell injury contribute to progressive glomerular damage. Kidney Int 1994, 45:S58-S63.
308. Rheault M.N., Kren S.M., Thielen B.K., et al. Mouse model of X-linked Alport syndrome. J Am Soc Nephrol 2004, 15:1466-1474.
309. Rhys C., Snyers B., Pirson Y. Recurrent corneal erosion associated with Alport's syndrome. Kidney Int 1997, 52:208-211.
310. Rodgers K.D., Rao V., Meehan D.T., et al. Monocytes may promote myofibroblast accumulation and apoptosis in Alport renal fibrosis. Kidney Int 2003, 63:1338-1355.
311. Rogers P.W., Kurtzman N.A., Bunn S.M., White M.G. Familial benign essential hematuria. Arch Intern Med 1973, 131:257-262.
312. Rohr C., Prestel J., Heidet L., et al. The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes. J Clin Invest 2002, 109:1073-1082.
313. Roselli S., Gribouval O., Boute N., et al. Podocin localizes in the kidney to the slit diaphragm area. Am J Pathol 2002, 160:131-139.
314. Roselli S., Heidet L., Sich M., et al. Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol Cell Biol 2004, 24:550-560.
315. Roselli S., Moutkine I., Gribouval O., Benmerah A., Antignac C. Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations. Traffic 2004, 5:37-44.
316. Rosenmann E., Kobrin I., Cohen T. Kidney involvement in systemic lupus erythematosus and Fabry's disease. Nephron 1983, 34:180-184.
317. Roussel B., Birembaut P., Gaillard D., et al. Leiomyomatose aesophagienne familiale associee a un syndrome d'Alport chez un garcon de 9 ans. Helv Paediat Acta 1986, 41:359-368.
318. Ruf R.G., Lichtenberger A., Karle S.M., et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004, 15:722-732.
319. Rumpelt H.-J. Hereditary nephropathy (Alport syndrome): correlation of clinical data with glomerular basement membrane alterations. Clin Nephrol 1980, 13:203-207.
320. Rumpelt H.-J. Alport's syndrome: specificity and pathogenesis of glomerular basement membrane alterations. Pediatr Nephrol 1987, 1:422-427.
321. Ruotsalainen V., Ljungberg P., Wartiovaara J., et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A 1999, 96:7962-7967.
322. Ryan M.C., Christiano A.M., Engvall E., et al. The functions of laminins: lessons from in vivo studies. Matrix Biol 1996, 15:369-381.
323. Sabates R., Krachmer J.H., Weingeist T.A. Ocular findings in Alport's syndrome. Ophthalmologica 1983, 186:204-210.
324. Sakuraba H., Eng C.M., Desnick R.J., Bishop D.F. Invariant exon skipping in the human alphagalactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. Genomics 1992, 12:643-650.
325. Saleem M.A., Ni L., Witherden I., et al. Co-localization of nephrin, podocin, and the actin cytoskeleton: evidence for a role in podocyte foot process formation. Am J Pathol 2002, 161:1459-1466.
326. Saus J., Wieslander J., Langeveld J.P.M., Quinones S., Hudson B.G. Identification of the Good-pasture antigen as the a3(IV) chain of collagen IV. J Biol Chem 1988, 263:13374-13380.
327. Savage C.O.S., Pusey C.D., Kershaw M.J., et al. The Goodpasture antigen in Alport's syndrome: studies with a monoclonal antibody. Kidney Int 1986, 30:107-112.
328. Sayers R., Kalluri R., Rodgers K.D., Shield C.F., Meehan D.T., Cosgrove D. Role for transforming growth factor-beta 1 in Alport renal disease progression. Kidney Int 1999, 56:1662-1673.
329. Schibanoff J.M., Kamoshita S., O'Brien J.S. Tissue distribution of glycosphingolipids in a case of Fabry's disease. J Lipid Res 1969, 10:515.
330. Schiffmann R., Kopp J.B., Austin H.A., et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001, 285:2743-2749.
331. Schiffmann R., Murray G.J., Treco D., et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 2000, 97:365-370.
332. Schroder C.H., Bontemps C.M., Assmann K.J.M., et al. Renal biopsy and family studies in 65 children with isolated hematuria. Acta Paediatr Scand 1990, 79:630-636.
333. Schultheiss M., Ruf R.G., Mucha B.E., et al. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol 2004, 19:1340-1348.
334. Schwarz K., Simons M., Reiser J., et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 2001, 108:1621-1629.
335. Schweitzer E.J., Drachenberg C.B., Bartlett S.T. Living kidney donor and recipient evaluation in Fabry's disease. Transplantation 1992, 54:924-946.
336. Segal Y., Peissel B., Renieri A., et al. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet 1999, 64:62-69.
337. Segal Y., Zhuang L., Rondeau E., Sraer J.D., Zhou J. Regulation of the paired type IV collagen genes COL4A5 and COL4A6. Role of the proximal promoter region. J Biol Chem 2001, 276:11791-11797.
338. Seppala M., Rapola J., Huttunen N.P., Aula P., Karjalainen O., Ruoslahti E. Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of aminotic-fluid and maternal serum alpha-fetoprotein. Lancet 1976, 2:123-125.
339. Seri M., Cusano R., Gangarossa S., et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet 2000, 26:103-105.
340. Seri M., Pecci A., Di Bari F., et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 2003, 82:203-215.
341. Seri M., Savino M., Bordo D., et al. Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet 2002, 110:182-186.
342. Shih N.Y., Li J., Karpitskii V., et al. Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 1999, 286:312-315.
343. Sibley R.K., Mahan J., Mauer S.M., Vernier R.L. A clinicopathologic study of forty-eight infants with nephrotic syndrome. Kidney Int 1985, 27:544-552.
344. Silverman M.E., Goodman R.M., Cuppage F.E. The nail-patella syndrome. Clinical findings and ultrastructural observations in the kidney. Arch Intern Med 1967, 120:68-74.
345. Smoyer W.E., Mundel P., Gupta A., Welsh M.J. Podocyte alpha-actinin induction precedes foot process effacement in experimental nephrotic syndrome. Am J Physiol 1997, 273:F150-F157.
346. Spear G.S. Pathology of the kidney in Alport's syndrome. Pathol Annu 1974, 9:93-138.
347. Spear G.S., Slusser R.J. Alport's syndrome: emphasizing electron microscopic studies of the glomerulus. Am J Pathol 1972, 69:213-222.
348. Spence M.W., MacKinnon K.E., Burgess J.K., et al. Failure to correct the metabolic defect by renal allotransplantion in Fabry's disease. Ann Intern Med 1976, 84:13-16.
349. Sperl W., Gruber W., Quatacker J., et al. Nephrosis in two siblings with infantile sialic acid storage disease. Eur J Pediatr 1990, 149:477-482.
350. Steffes M.W., Barbosa J., Basgen J.M., Sutherland D.E.R., Najarian J.S., Mauer S.M. Quantitative glomerular morphology of the normal human kidney. Kidney Int 1983, 49:82-86.
351. Streeten B.W., Robinson M.R., Wallace R., Jones D.B. Lens capsule abnormalities in Alport's syndrome. Arch Ophthalmol 1987, 105:1693-1697.
352. Sugimoto M., Oohashi T., Ninomiya Y. The genes COL4A5 and COL4A6, coding for basement membrane collagen chains a5(IV) and a6(IV), are located head-to-head in close proximity on human chromosome X COL4A6 is transcribed from two alternative promoters. Proc Natl Acad Sci U S A 1994, 91:11679-11683.
353. Sweeney E., Fryer A.E., Mountford R.C., Green A.J., McIntosh I. Nail patella syndrome: a study of 123 patients from 43 British families and the detection of 16 novel mutations of LMX1B. Am J Hum Genet 2001, 69:A571. (Suppl).
354. Swietlinski J., Maruniak-Chudek I., Niemir Z.I., Wozniak A., Wilinska M., Zacharzewska J. A case of atypical congenital nephrotic syndrome. Pediatr Nephrol 2004, 19:349-352.
355. Tajima T., Sasaki S., Tanaka Y., et al. 46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation. Horm Res 2003, 60:302-305.
356. Takenaka T., Murray G.J., Qin G., et al. Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc Natl Acad Sci U S A 2000, 97:7515-7520.
357. Taylor J., Thorner P., Geary D.F., Baumal R., Balfe J.W. Nephrotic syndrome and hypertension in two children with Hurler syndrome. J Pediatr 1986, 108:726-729.
358. Teekhasaenee C., Nimmanit S., Wutthiphan S., et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology 1991, 98:1207-1215.
359. Thompson S.M., Deady J.P., Willshaw H.E., White R.H.R. Ocular signs in Alport's syndrome. Eye 1987, 1:146-153.
360. Tiebosch A.T.M.G., Frederik P.M., van Breda Vriesman P.J.C., et al. Thin-basement-membrane nephropathy in adults with persistent hematuria. N Engl J Med 1989, 320:14-18.
361. Timpl R., Wiedemann H., van Delden V., Furthmayr H., Kuhn K. A network model for the organization of type IV collagen molecules in basement membranes. Eur J Biochem 1981, 120:203-211.
362. Tina L., Jenis E., Jose P., Medani C., Papadopoulou Z., Calcagno P. The glomerular basement membrane in benign familial hematuria. Clin Nephrol 1982, 17:1-4.
363. Toren A., Amariglio N., Rozenfeld-Granot G., et al. Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. Am J Hum Genet 1999, 65:1711-1717.
364. Toren A., Rozenfeld-Granot G., Rocca B., et al. Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-. Blood 2000, 96:3447-3451.
365. Trachtman H., Weiss R., Bennett B., Griefer I. Isolated hematuria in children: indications for a renal biopsy. Kidney Int 1984, 25:94-99.
366. Tryggvason K., Heikkila P., Pettersson E., Tibell A., Throner P. Can Alport syndrome be treated by gene therapy?. Kidney Int 1997, 52:1493-1499.
367. Tsilibary E., Charonis A. The role of the main noncollagenous domain (NC1) in type IV collagen self-assembly. J Cell Biol 1986, 103:2467-2473.
368. Tsukaguchi H., Sudhakar A., Le T.C., et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele. J Clin Invest 2002, 110:1659-1666.
369. Tunggal P., Smyth N., Paulsson M., Ott M.C. Laminins: Structure and genetic regulation. Microsc Res Techniq 2000, 51:214-227.
370. Turco A.E., Rossetti S., Bresin E., Corra S. Erroneous genetic risk assessment of Alport syndrome. Lancet 1995, 346:1237.
371. van de Heuvel L.P.W.J., Schroder C.H., Savage C.O.S., et al. The development of anti-glomerular basement membrane nephritis in two children with Alport's syndrome after renal transplantation: characterization of the antibody target. Pediatr Nephrol 1989, 3:406-413.
372. Van den Heuvel L.P., Van den Born J., Jalanko H., et al. The glycosaminoglycan content of renal basement membranes in the congenital nephrotic syndrome of the Finnish type. Pediatr Nephrol 1992, 6:10-15.
373. van der Loop F.T.L., Heidet L., Timmer E.D.J., et al. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation. Kidney Int 2000, 58:1870-1875.
374. van der Loop F.T.L., Monnens L.A.H., Schroder C.H., et al. Identification of COL4A5 defects in Alport syndrome by immunochemistry of skin. Kidney Int 1999, 55:1217-1224.
375. van Paassen P., van Breda Vriesman PJ., van Rie H., Tervaert J.W. Signs and symptoms of thin basement membrane nephropathy: a prospective regional study on primary glomerular disease-The Limburg Renal Registry. Kidney Int 2004, 66:909-913.
376. Verma R., Wharram B., Kovari I., et al. Fyn binds to and phosphorylates the kidney slit diaphragm component Nephrin. J Biol Chem 2003, 278:20716-20723.
377. Vermylen C., Levin M., Mossman J., Barratt T.M. Glomerular and urinary heparan sulphate in congenital nephrotic syndrome. Pediatr Nephrol 1989, 3:122-129.
378. Vernier R.L., Klein D.J., Sisson S.P., Mahan J.D., Oegema T.R., Brown D.M. Heparan sulfate-rich anionic sites in the human glomerular basement membrane. Decreased concentration in congenital nephrotic syndrome. N Engl J Med 1983, 309:1001-1009.
379. Vetrie D., Flinter F., Bobrow M., Harris A. X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?. J Med Genet 1992, 29:663-666.
380. Vogler C., McAdams A.J., Homan S.M. Glomerular basement membrane and lamina densa in infants and children: an ultrastructural evaluation. Pediatr Pathol 1987, 7:527-534.
381. Wang Z.Y., Madden S.L., Deuel T.F., Rauscher F.J. The Wilms' tumor gene product, WT1, represses transcription of the platelet-derived growth factor A-chain gene. J Biol Chem 1992, 267:21999-22002.
382. Wartiovaara J., Ofverstedt L.G., Khoshnoodi J., et al. Nephrin strands contribute to a porous slit diaphragm scaffold as revealed by electron tomography. J Clin Invest 2004, 114:1475-1483.
383. Weber S., Engel J., Wiedemann H., Glanville R.W., Timpl R. Subunit structure and assembly of the globular domain of basement membrane collagen type IV. Eur J Biochem 1984, 139:401-410.
384. Weber S., Gribouval O., Esquivel E.L., et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 2004, 66:571-579.
385. Werner H., Re G.G., Drummond I.A., et al. Increased expression of the insulin-like growth factor I receptor gene, IGF1R, in Wilms tumor is correlated with modulation of IGF1R promoter activity by the WT1 Wilms tumor gene product. Proc Natl Acad Sci U S A 1993, 90:5828-5832.
386. Wieslander J., Barr J.F., Butkowski R., et al. Goodpasture antigen of the glomerular basement membrane: localization to noncollagenous regions of type IV collagen. Proc Natl Acad Sci U S A 1984, 81:3838-3842.
387. Wilson R.E. Transplantation in patients with unusual causes of renal failure. Clin Nephrol 1976, 5:51-53.
388. Winn M.P., Alkhunaizi A.M., Bennett W.M., et al. Focal segmental glomerulosclerosis: a need for caution in live-related renal transplantation. Am J Kidney Dis 1999, 33:970-974.
389. Winn M.P., Conlon P.J., Lynn K.L., et al. Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. Kidney Int 1999, 55:1241-1246.
390. Winn M.P., Conlon P.J., Lynn K.L., et al. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics 1999, 58:113-120.
391. Wise D., Wallace H.J., Jellinek E.H. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 1962, 31:177-206.
392. Yao J., Le T.C., Kos C.H., et al. Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. PLoS Biol 2004, 2:e167.
393. Yoshikawa N., Hashimoto H., Katayama Y., Yamada Y., Matsuo T. The thin glomerular basement membrane in children with hematuria. J Pathol 1984, 142:253-257.
394. Yoshikawa N., White R.H.R., Cameron A.H. Familial hematuria: clinicopathological correlations. Clin Nephrol 1982, 17:172-182.
395. Yoshioka K., Hino S., Takemura T., et al. Type IV Collagen a5 chain: normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol 1994, 144:986-996.
396. Yurchenco P.D., Ruben G.C. Type IV collagen lateral associations in the EHS tumor matrix: Comparison with amniotic and in vitro networks. Am J Pathol 1988, 132:278-291.
397. Zeisberg M., Bottiglio C., Kumar N., et al. Bone morphogenic protein-7 inhibits progression of chronic renal fibrosis associated with two genetic mouse models. Am J Physiol Renal Physiol 2003, 285:F1060-F1067.
398. Zenker M., Aigner T., Wendler O., et al. Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 2004, 13:2625-2632.
399. Zenker M., Tralau T., Lennert T., et al. Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A 2004, 130:138-145.
400. Zhang S.Y., Marlier A., Gribouval O., et al. In vivo expression of podocyte slit diaphragmassociated proteins in nephrotic patients with NPHS2 mutation. Kidney Int 2004, 66:945-954.
401. Zheng K., Thorner P.S., Marrano P., Baumal R., McInnes R.R. Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the a5 chain of collagentype IV. Proc Natl Acad Sci U S A 1994, 91:3989-3993.
402. Zhou J., Mochizuki T., Smeets H., et al. Deletion of the paired a5(IV) and a6(IV) collagen genes in inherited smooth muscle tumors. Science 1993, 261:1167-1169.
403. Zylbermann R., Silverstone B.-Z., Brandes E., Drukker A. Retinal lesion in Alport's syndrome. J Pediatr Ophthalmol 1980, 17:255-260.