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Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus.
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A. Li N, et al. Am J Hum Genet. 2016 Jun 2;98(6):1082-1091. doi: 10.1016/j.ajhg.2016.03.022. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181681 Free PMC article.
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.
Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP. Hansson JH, et al. Proc Natl Acad Sci U S A. 1995 Dec 5;92(25):11495-9. doi: 10.1073/pnas.92.25.11495. Proc Natl Acad Sci U S A. 1995. PMID: 8524790 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. Nat Genet. 1997 Oct;17(2):171-8. doi: 10.1038/ng1097-171. Nat Genet. 1997. PMID: 9326936
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23.
Gharavi AG, Yan Y, Scolari F, Schena FP, Frasca GM, Ghiggeri GM, Cooper K, Amoroso A, Viola BF, Battini G, Caridi G, Canova C, Farhi A, Subramanian V, Nelson-Williams C, Woodford S, Julian BA, Wyatt RJ, Lifton RP. Gharavi AG, et al. Nat Genet. 2000 Nov;26(3):354-7. doi: 10.1038/81677. Nat Genet. 2000. PMID: 11062479
85 results