1. Cnossen WR, Drenth JP. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis. 2014;9:69. [
DOI:10.1186/1750-1172-9-69] [
PMID] [
PMCID]
2. Torres VE, Harris PC, Pirson Y; Autosomal dominant polycystic kidney disease. Lancet. 2007;369(9569):1287-1301. [
DOI:10.1016/S0140-6736(07)60601-1]
3. Bagheri M, Makhdoomi K, Taghizadeh Afshari A, Nikibakhsh AA, Abdi Rad I. Examining the Role of Polymorphisms in Exon 25 of the PKD1 Gene in the Pathogenesis of Autosomal Dominant Polycystic Kidney Disease in ranian Patients. Rep Biochem Mol Biol. 2019;8(2):102-110.
4. Grantham JJ. Autosomal dominant polycystic kidney disease. N Engl J Med 2008;359(14):1477-85. [
DOI:10.1056/NEJMcp0804458] [
PMID]
5. Hopp K, Ward CJ, Hommerding CJ, Nasr SH, Tuan HF, Gainullin VG, et al. Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest 2012;122(11):4257-73. [
DOI:10.1172/JCI64313] [
PMID] [
PMCID]
6. Ong AC, Devuyst O, Knebelmann B, Walz G, Diseases E-EWGfIK. Autosomal dominant polycystic kidney disease: the changing face of clinical management. Lancet. 2015;385(9981):1993-2002. [
DOI:10.1016/S0140-6736(15)60907-2]
7. Cordido A, Besada-Cerecedo L, Garcia-Gonzalez MA. The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease-A Primer for Clinicians. Front Pediatr. 2017;5:279. [
DOI:10.3389/fped.2017.00279] [
PMID] [
PMCID]
8. Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat Genet. 1997;16(2):179-83. [
DOI:10.1038/ng0697-179] [
PMID]
9. Nauli SM, Zhou J. Polycystins and mechanosensation in renal and nodal cilia. Bioessays 2004;26(8):844-56. [
DOI:10.1002/bies.20069] [
PMID]
10. Germino GG, Weinstat-Saslow D, Himmelbauer H, Gillespie GA, Somlo S, Wirth B, et al. The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics 1992;13(1):144-51. [
DOI:10.1016/0888-7543(92)90214-D]
11. Cornec-Le Gall E, Audrezet MP, Le Meur Y, Chen JM, Ferec C. Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. Hum Mutat. 2014;35(12):1393-406. [
DOI:10.1002/humu.22708] [
PMID]
12. Ranjzad F, Aghdami N, Tara A, Mohseni M, Moghadasali R, Basiri A. Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing. Kidney Blood Press Res. 2018;43(2):471-478. [
DOI:10.1159/000488471] [
PMID]
13. Dasar N, Ghaderian SM, Azargashb E; Human Evaluation of the Glu298Asp Polymorphism in NOS3 Gene and its Relationship with Onset age of ESRD in Iranian Patients Suffering from ADPKD. Int J Mol Cell Med. 2012;1(2):105-12.
14. Liyanage VR, Jarmasz JS, Murugeshan N, Del Bigio MR, Rastegar M, Davie JR; DNA modifications: function and applications in normal and disease States. Biology. 2014; 3(4):670-723. [
DOI:10.3390/biology3040670] [
PMID] [
PMCID]
15. Jones PA. Functions of DNA methylation: islands, start sites, gene bodies and beyond. Nat Rev Genet. 2012;13(7):484-92. [
DOI:10.1038/nrg3230] [
PMID]
16. Jin Z, Liu Y. DNA methylation in human diseases; Genes Dis. 2018;5(1):1-8. [
DOI:10.1016/j.gendis.2018.01.002] [
PMID] [
PMCID]
17. Bowden SA, Rodger EJ, Bates M, Chatterjee A, Eccles MR, Stayner C. Genome-Scale Single Nucleotide Resolution Analysis of DNA Methylation in Human Autosomal Dominant Polycystic Kidney Disease. Am J Nephrol. 2018;48(6):415-424. [
DOI:10.1159/000494739] [
PMID]
18. Woo YM, Bae JB, Oh YH, Lee YG, Lee MJ, Park EY, et al. Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development. Hum Genet. 2014;133(3):281-97. [
DOI:10.1007/s00439-013-1378-0] [
PMID]
19. Wojdacz TK, Hansen LL, Dobrovic A. A new approach to primer design for the control of PCR bias in methylation studies. BMC Res Notes. 2008;1:54. [
DOI:10.1186/1756-0500-1-54] [
PMID] [
PMCID]
20. Barnawi RA, Attar RZ, Alfaer SS, Safdar OY. Is the light at the end of the tunnel nigh? A review of ADPKD focusing on the burden of disease and tolvaptan as a new treatment. Int J Nephrol Renovasc Dis. 2018;11:53-67. [
DOI:10.2147/IJNRD.S136359] [
PMID] [
PMCID]
21. Feinberg AP, Tycko B. The history of cancer epigenetics. Nat Rev Cancer. 2004;4(2):143-153. [
DOI:10.1038/nrc1279] [
PMID]