Page 131 - Read Online
P. 131
Page 10 of 12 Cao et al. J Transl Genet Genom 2019;3:4. I https://doi.org/10.20517/jtgg.2018.16
13. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, et al. Complement factor H polymorphism in age-related macular degeneration. Science
2005;308:385-9.
14. Nordfors L, Luttropp K, Carrero JJ, Witasp A, Stenvinkel P, et al. Genetic studies in chronic kidney disease: basic concepts. J Nephrol
2012;25:141-9.
15. Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, et al. Advances and unmet needs in genetic, basic and clinical science in Alport
syndrome: report from the 2015 International Workshop on Alport Syndrome. Nephrol Dial Transplant 2017;32:916-24.
16. Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, et al. Alport syndrome: a unified classification of genetic disorders of collagen IV
α345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int 2018;93:1045-51.
17. Watson S, Bush JS. Alport syndrome. Treasure Island (FL): StatPearls Publishing; 2018.
18. Savige J, Gregory M, Gross O, Kashtan C, Ding J, et al. Expert guidelines for the management of Alport syndrome and thin basement
membrane nephropathy. J Am Soc Nephrol 2013;24:364-75.
19. Cervera-Acedo C, Coloma A, Huarte-Loza E, Sierra-Carpio M, Domínguez-Garrido E. Phenotype variability in a large Spanish family with
Alport syndrome associated with novel mutations in COL4A3 gene. BMC Nephrol 2017;18:325.
20. Fu XJ, Nozu K, Eguchi A, Nozu Y, Morisada N, et al. X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation
alters the splicing donor site of the type IV collagen alpha chain 5 gene. Clin Exp Nephrol 2016;20:699-702.
21. Liu JH, Wei XX, Li A, Cui YX, Xia XY, et al. Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport
Syndrome. PLoS One 2017;12:e0177685.
22. Weber S, Strasser K, Rath S, Kittke A, Beicht S, et al. Identification of 47 novel mutations in patients with Alport syndrome and thin
basement membrane nephropathy. Pediatr Nephrol 2016;31:941-55.
23. Guo L, Li D, Dong S, Wan D, Yang B, et al. Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport
syndrome family. J Genet 2017;96:389-92.
24. Savige J, Rana K, Tonna S, Buzza M, Dagher H, et al. Thin basement membrane nephropathy. Kidney Int 2003;64:1169-78.
25. Tryggvason K, Patrakka J. Thin basement membrane nephropathy. J Am Soc Nephrol 2006;17:813-22.
26. Hou P, Chen Y, Ding J, Li G, Zhang H. A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin
basement membrane nephropathy. Am J Nephrol 2007;27:538-44.
27. Xu Y, Guo M, Dong H, Jiang W, Ma R, et al. A novel COL4A4 mutation identified in a Chinese family with thin basement membrane
nephropathy. Sci Rep 2016;6:20244.
28. Baek JI, Choi SJ, Park SH, Choi JY, Kim CD, et al. Identification of novel variants in the COL4A4 gene in Korean patients with thin
basement membrane nephropathy. Indian J Med Res 2009;129:525-33.
29. Gale DP, Oygar DD, Lin F, Oygar PD, Khan N, et al. A novel COL4A1 frameshift mutation in familial kidney disease: the importance of
the C-terminal NC1 domain of type IV collagen. Nephrol Dial Transplant 2016;31:1908-14.
30. Sha YK, Sha YW, Mei LB, Huang XJ, Wang X, et al. Use of targeted sequence capture and high-throughput sequencing identifies a novel
PKD1 mutation involved in adult polycystic kidney disease. Gene 2017;634:1-4.
31. Harris PC, Rossetti S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol 2010;6:197-206.
32. Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, et al. Mutations in GANAB, encoding the glucosidase IIα subunit,
cause autosomal-dominant polycystic kidney and liver disease. Am J Hum Genet 2016;98:1193-1207.
33. Cornec-Le Gall E, Torres VE, Harris PC. Genetic complexity of autosomal dominant polycystic kidney and liver diseases. J Am Soc
Nephrol 2018;29:13-23.
34. Song X, Haghighi A, Iliuta IA, Pei Y. Molecular diagnosis of autosomal dominant polycystic kidney disease. Expert Rev Mol Diagn
2017;17:885-95.
35. Wang Z, Wang Y, Xiong J. A new PKD1 mutation discovered in a Chinese family with autosomal polycystic kidney disease. Kidney Blood
Press Res 2014;39:1-8.
36. Stanescu HC, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, et al. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic
membranous nephropathy. N Engl J Med 2011;364:616-26.
37. Lv J, Hou W, Zhou X, Liu G, Zhou F, et al. Interaction between PLA2R1 and HLA-DQA1 variants associates with anti-PLA2R antibodies
and membranous nephropathy. J Am Soc Nephrol 2013;24:1323-9.
38. Sekula P, Li Y, Stanescu HC, Wuttke M, Ekici AB, et al. Genetic risk variants for membranous nephropathy: extension of and association
with other chronic kidney disease aetiologies. Nephrol Dial Transplant 2017;32:325-32.
39. Le WB, Shi JS, Zhang T, Liu L, Qin HZ, et al. HLA-DRB1*15:01 and HLA-DRB3*02:02 in PLA2R-related membranous nephropathy. J
Am Soc Nephrol 2017;28:1642-50.
40. Bullich G, Ballarín J, Oliver A, Ayasreh N, Silva I, et al. HLA-DQA1 and PLA2R1 polymorphisms and risk of idiopathic membranous
nephropathy. Clin J Am Soc Nephrol 2014;9:335-43.
41. Kanigicherla D, Gummadova J, McKenzie EA, Roberts SA, Harris S, et al. Anti-PLA2R antibodies measured by ELISA predict long-term
outcome in a prevalent population of patients with idiopathic membranous nephropathy. Kidney Int 2013;83:940-8.
42. Ronco P, Debiec H. Membranous nephropathy: a fairy tale for immunopathologists, nephrologists and patients. Mol Immunol 2015;68:57-62.
43. Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, et al. Geographic differences in genetic susceptibility to IgA nephropathy:
GWAS replication study and geospatial risk analysis. PLoS Genet 2012;8:e1002765.
44. Kiryluk K, Novak J. The genetics and immunobiology of IgA nephropathy. J Clin Invest 2014;124:2325-32.
45. Kiryluk K, Novak J, Gharavi AG. Pathogenesis of immunoglobulin A nephropathy: recent insight from genetic studies. Annu Rev Med
2013;64:339-56.
46. Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, et al. Discovery of new risk loci for IgA nephropathy implicates genes involved in