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The mutation, a key determinant of phenotype in ADPKD.
Harris PC, Hopp K. Harris PC, et al. Among authors: hopp k. J Am Soc Nephrol. 2013 May;24(6):868-70. doi: 10.1681/ASN.2013040417. Epub 2013 May 16. J Am Soc Nephrol. 2013. PMID: 23687354 No abstract available.
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, Le Meur Y, Torres VE; Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease; Harris PC. Porath B, et al. Among authors: hopp k. Am J Hum Genet. 2016 Jun 2;98(6):1193-1207. doi: 10.1016/j.ajhg.2016.05.004. Am J Hum Genet. 2016. PMID: 27259053 Free PMC article.
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE; Genkyst Study Group; HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease; Harris PC. Cornec-Le Gall E, et al. Among authors: hopp k. Am J Hum Genet. 2018 May 3;102(5):832-844. doi: 10.1016/j.ajhg.2018.03.013. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706351 Free PMC article.
Modulation of Polycystic Kidney Disease Severity by Phosphodiesterase 1 and 3 Subfamilies.
Ye H, Wang X, Sussman CR, Hopp K, Irazabal MV, Bakeberg JL, LaRiviere WB, Manganiello VC, Vorhees CV, Zhao H, Harris PC, van Deursen J, Ward CJ, Torres VE. Ye H, et al. Among authors: hopp k. J Am Soc Nephrol. 2016 May;27(5):1312-20. doi: 10.1681/ASN.2015010057. Epub 2015 Sep 15. J Am Soc Nephrol. 2016. PMID: 26374610 Free PMC article.
Food Restriction Ameliorates the Development of Polycystic Kidney Disease.
Warner G, Hein KZ, Nin V, Edwards M, Chini CC, Hopp K, Harris PC, Torres VE, Chini EN. Warner G, et al. Among authors: hopp k. J Am Soc Nephrol. 2016 May;27(5):1437-47. doi: 10.1681/ASN.2015020132. Epub 2015 Nov 4. J Am Soc Nephrol. 2016. PMID: 26538633 Free PMC article.
74 results