Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome (original) (raw)

• Lifton, R.P. & Jeunemaitre, X. Finding genes that cause human hypertension. J. Hypertension 11, 231–236 (1993).
  Article CAS Google Scholar
• Froguel, P. et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356, 162–164 (1992).
  Article CAS PubMed Google Scholar
• Froguel, P. et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. New Engl. J. Med. 328, 697–701 (1993).
  Article CAS PubMed Google Scholar
• Miki, Y. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266, 66–71 (1994).
  Article CAS PubMed Google Scholar
• Fishel, R. et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75, 1027–1038 (1993).
  Article CAS PubMed Google Scholar
• Leach, F.S. et al. Mutations of a MutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75, 1215–1225 (1993).
  Article CAS PubMed Google Scholar
• Papadopoulos, N. et al. Mutation of a mutL homolog in hereditary colon cancer. Science 263, 1625–1629 (1994).
  Article CAS PubMed Google Scholar
• Lifton, R.P. et al. Hereditary hypertension caused by chimeric gene duplications and ectopic expression of aldosterone synthase. Nature Genet.. 2, 66–74 (1992).
  Article CAS PubMed Google Scholar
• Lifton, R.P. et al. A chimaeric 11b-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355, 262–265 (1992).
  Article CAS PubMed Google Scholar
• Shimkets, R.A. et al. Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell. 79, 407–414 (1994).
  Article CAS PubMed Google Scholar
• Liddle, G.W., Bledsoe, T. & Coppage, W.S. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans. Amer. Assoc. Phys. 76, 199–213 (1963).
  CAS Google Scholar
• Canessa, C.M., Horisberger, J.-D. & Rossier, B.C. Epithelial sodium channel related to proteins involved in neurodegeneration. Nature 361, 467–470 (1993).
  Article CAS PubMed Google Scholar
• Canessa, C.M. et al. Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits. Nature 367, 463–467 (1994).
  Article CAS PubMed Google Scholar
• Canessa, C.M., Merillat, A.-M. & Rossier, B.C. Membrane topology of the epithelial sodium channel in intact cell. Amer. J. Physiol. 267, C1682–C1690 (1994).
  Article CAS PubMed Google Scholar
• Renard, S., Lingueglia, E., Voilley, N., Lazdunski, M. & Barbry, P. Biochemical analysis of the membrane topology of the amiloride-sensitive Na+ channel. J. biol. Chem. 269, 12981–12986 (1994).
  CAS PubMed Google Scholar
• Schild, L. et al. A mutation in the epithelial sodium channel causing Liddle's disease increases channel activity in the Xenopus laevis ooocyte expression system. Proc. natn. Acad. Sci. U.S.A. 92, 5699–5703 (1995).
  Article CAS Google Scholar
• Fukutake, N. et al. A case of Liddle's syndrome with familial occurrence. Nippon Naika Gakkai Zasshi — J. Jap. Soc. Int. Med. 77, 441–442 (1988) (Published in Japanese).
  Article CAS Google Scholar
• Lifton, R.P. & Dluhy, R.G. Inherited forms of mineralocorticoid hypertension: Glucocorticoid-remediable aldosteronism and the syndrome of apparent mineralocorticoid excess. in Hypertension: Pathophysiology, Diagnosis and Management (eds Laragh, J. & Brenner, B.M.) 2163–2176 (Raven Press, New York, 1995).
  Google Scholar
• Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. natn. Acad. Sci. U.S.A. 86, 2766–2770 (1989).
  Article CAS Google Scholar
• Cohen, D., Chumakov, I. & Weissenbach, J. A first-generation physical map of the human genome. Nature 366, 698–701 (1993).
  Article CAS PubMed Google Scholar
• Mune, T., Regerson, F.M., Nikkila, H., Agarwal, A.K. & White, P.C. Human hypertension caused by mutations in the kidney isozyme of 11 β-hydroxysteroid dehydrogenase. Nature Genet. 10, 394–399 (1995).
  Article CAS PubMed Google Scholar
• Jeunemaitre, X. et al. Molecular basis of human hypertension: Role of Angiotensinogen. Cell 71, 169–180 (1992).
  Article CAS PubMed Google Scholar
• Sheffield, V., Cox, D.R., Lerman, L.S. & Myers, R.M. Attachment of a 40-base-pair G+C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single base changes. Proc. natn. Acad. Sci. U.S.A. 86, 232–236 (1989).
  Article CAS Google Scholar
• Maniatis, T., Fritsch, E.F., Lauer, J. & Lawn, R.M. The molecular genetics of human hemoglobins. A. Rev. Genet. 14, 145–178 (1980).
  Article CAS Google Scholar
• Nathans, J., Sung, C.-H., Weitz, C.J. & Davenport, C.M. Pigments and inherited variation in human vision. J. gen. Physiol. 47, 110–131 (1992).
  Google Scholar
• Samani, N.J. et al. A gene differentially expressed in the kidney of the spontaneously hypertensive rat cosegregates with increased blood pressure. J. clin. Invest. 92, 1099–1103 (1993).
  Article CAS PubMed PubMed Central Google Scholar
• Harris, E.L., Dene, H. & Rapp, J.P. SA gene and blood pressure cosegregation using Dahl salt-sensitive rats. J. Hypertension 6, 330–334 (1993).
  Article CAS Google Scholar
• Lindpaintner, K. et al. Molecular genetics of the SA-gene: cosegregation with hypertension and mapping to rat chromsome 1. J. Hypertension 11, 19–23 (1993).
  Article CAS Google Scholar
• Nabika, T. et al. Evaluation of the SA locus in human hypertension. Hypertension. 25, 6–13 (1995).
  Article CAS PubMed Google Scholar
• Evans, G.A. & Wahl, G.M. Cosmid vectors for genomic walking and rapid restriction mapping. Meth. Enzymol. 152, 604–610 (1987).
  Article CAS Google Scholar
• Hata, A., Robertson, M., Emi, M. & Lalouel, J.-M. Direct detection and automated sequencing of individual alleles after electrophoretic strand separation:identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene. Nucl. Acids Res. 18, 5407–5411 (1990).
  Article CAS PubMed PubMed Central Google Scholar
• Gyapay, G. et al. The 1993–94 Généthon human genetic linkage map. Nature Genet. 7, 246–339 (1994).
  Article CAS PubMed Google Scholar
• Bell, G., Karam, J. & Rutter, W. Polymorphic DNA region adjacent to the 5′ end of the human insulin gene. Proc. natn. Acad. Sci. U.S.A. 78, 5759–5763 (1981).
  Article CAS Google Scholar
• Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratories, Cold Spring Harbor, 1989).
  Google Scholar
• Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. natn. Acad. Sci. U.S.A. 81, 3443–3446 (1984).
  Article CAS Google Scholar