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- Simon DB, Karet FE, Hamdan JM, Di Pietro A, Sanjad SA and Lifton RP. Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature Genetics 13:183-188, 1996.
Lifton RP. Molecular genetics of human blood pressure variation. Science, 272:676-680, 1996.
G¸nel M, Awad IA, Finberg K, Anson, JA, Steinberg GK, Batjer HH, Kopitnik TA, Morrison L, Gianotta SL, Nelson-Williams C, and Lifton RP. A founder mutation in both familial and sporadic cases of cerebral cavernous malformation in Hispanic Americans of Mexican descent. New Engl J Med, 334:946-951, 1996.
Schild L, Lu Y, Gotchi I, Schneerberger G, Lifton RP and Rossier B. Identification of a PY motif in the epithelial sodium channel subunits as a target sequence for mutations causing channel activation found in Liddle's syndrome. EMBO J, 15:2381-2387, 1996.
Chang SS, Grunder S, Hanukoglu A, R&Mac246;sler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC and Lifton RP. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalemic acidosis, seudohypoaldosteronism type 1. Nature Genetics, 12: 248-253, 1996.Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet F, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitelman HJ and Lifton RP. Gitelman's variant of Bartter's syndrome, inherited hypokalemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nature Genetics, 12: 24-30, 1996.
Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP. A de novo missense mutation of the&Mac223; subunit of the epithelial sodium channel causes hypertension and Liddle's syndrome and identifies a proline-rich segment of the protein critical for regulation of channel activity. Proc Nat Acad Sci USA, 92: 11495-11499, 1995.
Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Canessa C, Iwasaki T, Rossier B, Lifton RP. Hypertension caused by a truncated epithelial sodium channel gamma subunit: Genetic heterogeneity of Liddle's syndrome. Nature Genetics, 11:76-82, 1995.
Gunel M, Awad I, Anson J, Lifton R. Mapping of a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Nat Acad Sci USA. 92:6620-6624, 1995.
Schild L, Canessa CM, Shimkets RA, Gautschi I, Lifton RP, Rossier BC. A mutation in the epithelial sodium channel causing Liddle's disease increases channel activity in the Xenopus laevis Ooocyte expression system. Proc Nat Acad Sci USA 92:5699-5703, 1995.
Shimkets RA, Warnock DG, Bositis C, Nelson-Williams C, Hansson JH, Schambelan M, Gill JR, Ulick S, Milora RV, Findling JW, Canessa CM, Rossier BC, and Lifton RP. Liddle's syndrome: Heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 79:407-414, 1994.
Ward K, Hata A, Jeunemaitre X, Helin C, Nelson L, Namikawa C, Farrington P, Ogasawara M, Suzumori K, Tomoda S, Berrebi S, Sasaki, M, Corvol P, Lifton RP, Lalouel JM. A molecular variant of angiotensinogen associated with preeclampsia. Nature Genetics, 4 :59-61,1993.
Jeunemaitre X, Soubrier F, Kotelevtsev Y, Lifton RP, Williams C, Charru A, Hunt S, Hopkins PN, Williams RR, Lalouel JM, Corvol P. Molecular basis of human hypertension: Role of Angiotensinogen. Cell, 71:169-180, 1992.
Lifton RP, Dluhy RG, Powers M, Rich G, Gutkin M, Fallo F, Gill J, Feld L, Ganguly A, Laidlaw J, Murnaghan DJ, Kaufman C, Stockigt JR, Ulick S, and Lalouel JM. Hereditary hypertension caused by chimeric gene duplications and ectopic expression of aldosterone synthase. Nature Genetics, 2:66-74, 1992.
Jeunmaitre X, Lifton RP, Hunt SC, Williams RR, Lalouel JM. Absence of linkage between the angiotensin converting enzyme locus and human hypertension. Nature Genetics 1:72-75; 1992.
Lifton RP, Dluhy RG, Rich GM, Cook S, Ulick S, Lalouel JM. A chimeric 11&Mac223;-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature, 355:262-265 1992.
Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 284:103-6, 1999.
Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nature Genetics. 21:84-90, 1999.
Craig HD, G¸nel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Stephen Crawford C, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CTC, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum. Mol. Genet., 7:1851-8, 1998.
Geller DS, Rodriguez-Soriano J, Boado AV, Schifter S, Bayer M, Chang SS, Lifton RP. Mutations in the human mineralocorticoid receptor gene cause autosomal dominant Pseudohypoaldosteronism type I. Nature Genetics, 19:279-281,1998.
Karet F, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP. Mutations in the chloride-bicarbonate exchanger AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Nat Acad Sci (USA), 95:6337-6342, 1998.
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano A, Morales AM, Sanjad SA, Taylor CM, Pilz C, Brem A, Trachtman H, Griswold W, Richard GA, John E, & Lifton RP. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nature Genetics, 17:171-178, 1997. 48.
Shimkets RA, Lifton RP, Canessa CM. The activity of the epithelial sodium channel is regulated by clathrin-mediated endocytosis. J Biol Chem 272: 25537-25541, 1997.
Mansfield TA, Simon DB, Farfel Z, Bia M, Tucci JR, Lebel M, Gutkin M, Vialettes B, Christofilis MA, Kauppinen-Makelin R, Mayan H, Risch N, Lifton RP. Multilocus linkage of familial hyperkalemia and hypertension, pseudohypoaldosteronism type II, to two loci. Nature Genetics, 16:202-205, 1997.
Grunder S, Firsov D, Chang SS, Jaeger NF, Gautschi I, Schild L, Lifton RP, Rossier B. A mutation causing pseudohypoaldosteronism type I identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. EMBO J 16:899-907, 1997.
Findling JW, Raff H, Hansson JH, Lifton RP. Liddle's syndrome: Prospective genetic screening and suppressed aldosterone secretion in an extended kindred. J Clin Endocrinol Metab 82:1071-1074, 1997.
Litchfield WR, Coolidge C, Silva P, Lifton RP, Fallo F, Williams GH, Dluhy RG. Impaired potessium-stimulated aldosterone production: A possible explanation for the paradox of normokalemia in glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab, 82:1507-1510, 1997.
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