Lifton RP - Search Results

1

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: lifton rp. Nature. 2012 Jan 22;482(7383):98-102. doi: 10.1038/nature10814. Nature. 2012. PMID: 22266938 Free PMC article.

2

Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.

Lifton RP, Dluhy RG, Powers M, Rich GM, Gutkin M, Fallo F, Gill JR Jr, Feld L, Ganguly A, Laidlaw JC, et al. Lifton RP, et al. Nat Genet. 1992 Sep;2(1):66-74. doi: 10.1038/ng0992-66. Nat Genet. 1992. PMID: 1303253

3

Absence of linkage between the angiotensin converting enzyme locus and human essential hypertension.

Jeunemaitre X, Lifton RP, Hunt SC, Williams RR, Lalouel JM. Jeunemaitre X, et al. Among authors: lifton rp. Nat Genet. 1992 Apr;1(1):72-5. doi: 10.1038/ng0492-72. Nat Genet. 1992. PMID: 1338766

4

A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.

Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM. Lifton RP, et al. Nature. 1992 Jan 16;355(6357):262-5. doi: 10.1038/355262a0. Nature. 1992. PMID: 1731223

5

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP. Hansson JH, et al. Among authors: lifton rp. Nat Genet. 1995 Sep;11(1):76-82. doi: 10.1038/ng0995-76. Nat Genet. 1995. PMID: 7550319

6

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. Among authors: lifton rp. 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.

7

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP. Simon DB, et al. Among authors: lifton rp. Nat Genet. 1996 Jan;12(1):24-30. doi: 10.1038/ng0196-24. Nat Genet. 1996. PMID: 8528245

8

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP. Chang SS, et al. Among authors: lifton rp. Nat Genet. 1996 Mar;12(3):248-53. doi: 10.1038/ng0396-248. Nat Genet. 1996. PMID: 8589714

9

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Simon DB, et al. Among authors: lifton rp. Nat Genet. 1996 Jun;13(2):183-8. doi: 10.1038/ng0696-183. Nat Genet. 1996. PMID: 8640224

10

Genetic heterogeneity of inherited cerebral cavernous malformation.

Günel M, Awad IA, Finberg K, Steinberg GK, Craig HD, Cepeda O, Nelson-Williams C, Lifton RP. Günel M, et al. Among authors: lifton rp. Neurosurgery. 1996 Jun;38(6):1265-71. doi: 10.1097/00006123-199606000-00059. Neurosurgery. 1996. PMID: 8727164

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