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Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, Wenzel A, Schliep S, Schürfeld C, Seitz R, Bernhardt W, Gödel M, Wiesener A, Popp B, Stark KJ, Gröne HJ, Friedrich B, Weiß M, Basic-Jukic N, Schiffer M, Schröppel B, Huettel B, Beck BB; Genomics England Research Consortium; Sayer JA, Ziegler C, Büttner-Herold M, Amann K, Heid IM, Reis A, Pasutto F, Wiesener MS. Wopperer FJ, et al. Among authors: beck bb. Kidney Int. 2022 Aug;102(2):405-420. doi: 10.1016/j.kint.2022.04.031. Epub 2022 May 26. Kidney Int. 2022. PMID: 35643372 Free article.
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.
Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT. Zaucke F, et al. Among authors: beck bb. Hum Mol Genet. 2010 May 15;19(10):1985-97. doi: 10.1093/hmg/ddq077. Epub 2010 Feb 18. Hum Mol Genet. 2010. PMID: 20172860 Free PMC article.
Nephrocalcinosis and urolithiasis in children.
Habbig S, Beck BB, Hoppe B. Habbig S, et al. Among authors: beck bb. Kidney Int. 2011 Dec;80(12):1278-91. doi: 10.1038/ki.2011.336. Epub 2011 Sep 28. Kidney Int. 2011. PMID: 21956187 Free article.
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Ekici AB, Hackenbeck T, Morinière V, Pannes A, Buettner M, Uebe S, Janka R, Wiesener A, Hermann I, Grupp S, Hornberger M, Huber TB, Isbel N, Mangos G, McGinn S, Soreth-Rieke D, Beck BB, Uder M, Amann K, Antignac C, Reis A, Eckardt KU, Wiesener MS. Ekici AB, et al. Among authors: beck bb. Kidney Int. 2014 Sep;86(3):589-99. doi: 10.1038/ki.2014.72. Epub 2014 Mar 26. Kidney Int. 2014. PMID: 24670410 Free article.
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, Airik R, Shril S, Allen SJ, Stein D, Al Kindy A, Beck BB, Cengiz N, Moorani KN, Ozaltin F, Hashmi S, Sayer JA, Bockenhauer D, Soliman NA, Otto EA, Lifton RP, Hildebrandt F. Braun DA, et al. Among authors: beck bb. Kidney Int. 2016 Feb;89(2):468-475. doi: 10.1038/ki.2015.317. Kidney Int. 2016. PMID: 26489029 Free PMC article.
132 results