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Page 1
Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.
Meyers N, Nelson-Williams C, Malaga-Dieguez L, Kaufmann H, Loring E, Knight J, Lifton RP, Trachtman H. Meyers N, et al. Among authors: trachtman h. Am J Kidney Dis. 2019 Mar;73(3):425-428. doi: 10.1053/j.ajkd.2018.08.015. Epub 2018 Oct 25. Am J Kidney Dis. 2019. PMID: 30482581 Free PMC article.
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP. Simon DB, et al. Among authors: trachtman h. Nat Genet. 1997 Oct;17(2):171-8. doi: 10.1038/ng1097-171. Nat Genet. 1997. PMID: 9326936
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Poujol A, Välimäki MJ, De Ferrari ME, Sanjad SA, Gutkin M, Karet FE, Tucci JR, Stockigt JR, Keppler-Noreuil KM, Porter CC, Anand SK, Whiteford ML, Davis ID, Dewar SB, Bettinelli A, Fadrowski JJ, Belsha CW, Hunley TE, Nelson RD, Trachtman H, Cole TR, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Thameem F, Al-Shahrouri HZ, Radhakrishnan J, Gharavi AG, Goilav B, Lifton RP. Boyden LM, et al. Among authors: trachtman h. Nature. 2012 Jan 22;482(7383):98-102. doi: 10.1038/nature10814. Nature. 2012. PMID: 22266938 Free PMC article.
Novel therapies for FSGS: preclinical and clinical studies.
Malaga-Dieguez L, Bouhassira D, Gipson D, Trachtman H. Malaga-Dieguez L, et al. Among authors: trachtman h. Adv Chronic Kidney Dis. 2015 Mar;22(2):e1-6. doi: 10.1053/j.ackd.2014.10.001. Adv Chronic Kidney Dis. 2015. PMID: 25704355 Free PMC article. Review.
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
Scholl UI, Stölting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP. Scholl UI, et al. Among authors: trachtman h. Elife. 2015 Apr 24;4:e06315. doi: 10.7554/eLife.06315. Elife. 2015. PMID: 25907736 Free PMC article.
386 results