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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2023 | 7 |
2024 | 1 |
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7 results
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Page 1
Uromodulin processing in DNAJB11-kidney disease.
Kidney Int. 2024 Feb;105(2):376-380. doi: 10.1016/j.kint.2023.11.008. Epub 2023 Nov 26.
Kidney Int. 2024.
PMID: 38016513
Free article.
No abstract available.
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.
Schiano G, Lake J, Mariniello M, Schaeffer C, Harvent M, Rampoldi L, Olinger E, Devuyst O.
Schiano G, et al.
EMBO Mol Med. 2023 Dec 7;15(12):e18242. doi: 10.15252/emmm.202318242. Epub 2023 Oct 26.
EMBO Mol Med. 2023.
PMID: 37885358
Free PMC article.
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Many lessons still to learn about autosomal dominant polycystic kidney disease.
Orr S, Sayer JA.
Orr S, et al.
J Rare Dis (Berlin). 2023;2(1):13. doi: 10.1007/s44162-023-00017-8. Epub 2023 Sep 1.
J Rare Dis (Berlin). 2023.
PMID: 37664187
Free PMC article.
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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R.
Claus LR, et al.
Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19.
Kidney Int. 2023.
PMID: 37598857
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Renal ciliopathies: promising drug targets and prospects for clinical trials.
Devlin L, Dhondurao Sudhindar P, Sayer JA.
Devlin L, et al.
Expert Opin Ther Targets. 2023 Apr-May;27(4-5):325-346. doi: 10.1080/14728222.2023.2218616. Epub 2023 Jun 5.
Expert Opin Ther Targets. 2023.
PMID: 37243567
Review.
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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J.
Schönauer R, et al.
Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18.
Am J Hum Genet. 2023.
PMID: 37207645
Free PMC article.
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Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS, Al Alawi I, Al Gaithi B, Al Maskari A, Al Kalbani N, Al Hashmi N, Al Balushi A, Al Shahi M, Al Saidi S, Al Bimani M, Al Hatali F, Mabillard H, Sayer JA.
Al Riyami MS, et al.
Mol Genet Genomic Med. 2023 Sep;11(9):e2201. doi: 10.1002/mgg3.2201. Epub 2023 May 19.
Mol Genet Genomic Med. 2023.
PMID: 37204080
Free PMC article.
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