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Items: 1 to 20 of 34

1.

The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease-A Primer for Clinicians.

Cordido A, Besada-Cerecedo L, García-González MA.

Front Pediatr. 2017 Dec 18;5:279. doi: 10.3389/fped.2017.00279. eCollection 2017. Review.

2.

Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.

Cornec-Le Gall E, Torres VE, Harris PC.

J Am Soc Nephrol. 2018 Jan;29(1):13-23. doi: 10.1681/ASN.2017050483. Epub 2017 Oct 16.

PMID:
29038287
3.

Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial.

Cornec-Le Gall E, Blais JD, Irazabal MV, Devuyst O, Gansevoort RT, Perrone RD, Chapman AB, Czerwiec FS, Ouyang J, Heyer CM, Senum SR, Le Meur Y, Torres VE, Harris PC.

Nephrol Dial Transplant. 2017 Jul 19. doi: 10.1093/ndt/gfx188. [Epub ahead of print]

4.

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Borràs DM, Vossen RHAM, Liem M, Buermans HPJ, Dauwerse H, van Heusden D, Gansevoort RT, den Dunnen JT, Janssen B, Peters DJM, Losekoot M, Anvar SY.

Hum Mutat. 2017 Jul;38(7):870-879. doi: 10.1002/humu.23223. Epub 2017 May 29.

5.

Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease: A Canadian Expert Consensus.

Soroka S, Alam A, Bevilacqua M, Girard LP, Komenda P, Loertscher R, McFarlane P, Pandeya S, Tam P, Bichet DG.

Can J Kidney Health Dis. 2017 Mar 1;4:2054358117695784. doi: 10.1177/2054358117695784. eCollection 2017.

6.

Incidence and survival of end-stage kidney disease due to polycystic kidney disease in Australia and New Zealand (1963-2014).

Fernando MR, Dent H, McDonald SP, Rangan GK.

Popul Health Metr. 2017 Feb 17;15(1):7. doi: 10.1186/s12963-017-0123-7.

7.

Pathways, perspectives and pursuits in polycystic kidney disease.

Bhaskar LV, Elumalai R, Periasamy S.

J Nephropharmacol. 2015 Dec 13;5(1):41-48. eCollection 2016. Review.

8.

Progress in ciliary ion channel physiology.

Pablo JL, DeCaen PG, Clapham DE.

J Gen Physiol. 2017 Jan;149(1):37-47. doi: 10.1085/jgp.201611696. Epub 2016 Dec 20. Review.

9.

Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genes.

Edrees BM, Athar M, Abduljaleel Z, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, Alansary K, Anazi A, Altayeb N, Ahmed MA.

Genom Data. 2016 Nov 3;10:127-134. eCollection 2016 Dec.

10.

System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

Jin M, Xie Y, Chen Z, Liao Y, Li Z, Hu P, Qi Y, Yin Z, Li Q, Fu P, Chen X.

Sci Rep. 2016 Oct 26;6:35945. doi: 10.1038/srep35945.

11.

Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.

Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, Bae KT, Schrier RW, Perrone RD, Braun WE, Steinman TI, Mrug M, Yu AS, Brosnahan G, Hopp K, Irazabal MV, Bennett WM, Flessner MF, Moore CG, Landsittel D, Harris PC; HALT PKD and CRISP Investigators.

J Am Soc Nephrol. 2016 Sep;27(9):2872-84. doi: 10.1681/ASN.2015050583. Epub 2016 Jan 28.

12.

Exploring the genetic basis of early-onset chronic kidney disease.

Vivante A, Hildebrandt F.

Nat Rev Nephrol. 2016 Mar;12(3):133-46. doi: 10.1038/nrneph.2015.205. Epub 2016 Jan 11. Review.

13.

Mini-review: emerging roles of microRNAs in the pathophysiology of renal diseases.

Bhatt K, Kato M, Natarajan R.

Am J Physiol Renal Physiol. 2016 Jan 15;310(2):F109-18. doi: 10.1152/ajprenal.00387.2015. Epub 2015 Nov 4. Review.

14.

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y.

J Am Soc Nephrol. 2016 Jun;27(6):1861-8. doi: 10.1681/ASN.2015060648. Epub 2015 Oct 9.

15.

ANKS3 Co-Localises with ANKS6 in Mouse Renal Cilia and Is Associated with Vasopressin Signaling and Apoptosis In Vivo in Mice.

Delestré L, Bakey Z, Prado C, Hoffmann S, Bihoreau MT, Lelongt B, Gauguier D.

PLoS One. 2015 Sep 1;10(9):e0136781. doi: 10.1371/journal.pone.0136781. eCollection 2015.

16.

Ouabain Regulates CFTR-Mediated Anion Secretion and Na,K-ATPase Transport in ADPKD Cells.

Jansson K, Venugopal J, Sánchez G, Magenheimer BS, Reif GA, Wallace DP, Calvet JP, Blanco G.

J Membr Biol. 2015 Dec;248(6):1145-57. doi: 10.1007/s00232-015-9832-7. Epub 2015 Aug 20.

17.

Urine Fetuin-A is a biomarker of autosomal dominant polycystic kidney disease progression.

Piazzon N, Bernet F, Guihard L, Leonhard WN, Urfer S, Firsov D, Chehade H, Vogt B, Piergiovanni S, Peters DJ, Bonny O, Constam DB.

J Transl Med. 2015 Mar 30;13:103. doi: 10.1186/s12967-015-0463-7.

18.

Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Choi R, Park HC, Lee K, Lee MG, Kim JW, Ki CS, Hwang YH, Ahn C.

BMC Med Genet. 2014 Dec 10;15:129. doi: 10.1186/s12881-014-0129-y.

19.

Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

Trujillano D, Bullich G, Ossowski S, Ballarín J, Torra R, Estivill X, Ars E.

Mol Genet Genomic Med. 2014 Sep;2(5):412-21. doi: 10.1002/mgg3.82. Epub 2014 May 23.

20.

How simple are 'simple renal cysts'?

Simms RJ, Ong AC.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv106-12. doi: 10.1093/ndt/gfu106. Review.

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