-
2
-
-
0027946089
-
Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
-
2 Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson JH, Schambelan M, et al. Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 1994; 79:407-414.
-
(1994)
Cell
, vol.79
, pp. 407-414
-
-
Shimkets, R.A.1
Warnock, D.G.2
Bositis, C.M.3
Nelson-Williams, C.4
Hansson, J.H.5
Schambelan, M.6
-
3
-
-
0029586683
-
A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity
-
3 Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, et al. A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA 1995; 92:11495-11499.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 11495-11499
-
-
Hansson, J.H.1
Schild, L.2
Lu, Y.3
Wilson, T.A.4
Gautschi, I.5
Shimkets, R.6
-
4
-
-
0029918734
-
Liddle disease caused by a missense mutation of b subunit of the epithelial sodium channel gene
-
4 Tamura H, Schild L, Enomoto N, Matsui N, Marumo F, Rossier C, et al. Liddle disease caused by a missense mutation of b subunit of the epithelial sodium channel gene. J Clin Invest 1996; 97:1780-1784.
-
(1996)
J Clin Invest
, vol.97
, pp. 1780-1784
-
-
Tamura, H.1
Schild, L.2
Enomoto, N.3
Matsui, N.4
Marumo, F.5
Rossier, C.6
-
5
-
-
0030928166
-
Genotype-phenotype analysis of a new family with Liddle's syndrome
-
5 Jeunemaitre X, Bassilana F, Persu A, Dumont C, Champigny G, Lazdunski M, et al. Genotype-phenotype analysis of a new family with Liddle's syndrome. J Hypertens 1997; 15:1091-1100.
-
(1997)
J Hypertens
, vol.15
, pp. 1091-1100
-
-
Jeunemaitre, X.1
Bassilana, F.2
Persu, A.3
Dumont, C.4
Champigny, G.5
Lazdunski, M.6
-
6
-
-
0013570230
-
Mutations and variants of the epithelial Na channel in Liddle's syndrome and primary hypertension
-
6 Melander O, Orho M, Fagerudd J, Bengtsson K, Groop P-H, Mattiasson I, et al. Mutations and variants of the epithelial Na channel in Liddle's syndrome and primary hypertension. Hum Genet 1998; 102:576-581.
-
(1998)
Hum Genet
, vol.102
, pp. 576-581
-
-
Melander, O.1
Orho, M.2
Fagerudd, J.3
Bengtsson, K.4
Groop, P.-H.5
Mattiasson, I.6
-
7
-
-
0029092801
-
Hypertension caused by a truncated epithelial sodium channel γ subunit: Genetic heterogeneity of Liddle syndrome
-
7 Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets RA, Lu Y, et al. Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome. Nature Genet 1995; 11:76-82.
-
(1995)
Nature Genet
, vol.11
, pp. 76-82
-
-
Hansson, J.H.1
Nelson-Williams, C.2
Suzuki, H.3
Schild, L.4
Shimkets, R.A.5
Lu, Y.6
-
10
-
-
0000230888
-
Increased sodium channel activity in black people with T594M epithelial sodium channel mutation
-
10 Baker E, Ireson NJ, Dong YB, Blackwood A, Sagnella GA, Carter ND, et al. Increased sodium channel activity in black people with T594M epithelial sodium channel mutation [Abstract]. Hypertension 1998; 4:793.
-
(1998)
Hypertension
, vol.4
, pp. 793
-
-
Baker, E.1
Ireson, N.J.2
Dong, Y.B.3
Blackwood, A.4
Sagnella, G.A.5
Carter, N.D.6
-
12
-
-
0030451774
-
Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: A quantitative approach
-
12 Firsov D, Schild L, Gautschi I, Mėrillat A-M, Schneeberger E, Rossier BC. Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. Proc Natl Acad Sci USA 1996; 93:15370-15375.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, pp. 15370-15375
-
-
Firsov, D.1
Schild, L.2
Gautschi, I.3
Merillat, A.-M.4
Schneeberger, E.5
Rossier, B.C.6
-
13
-
-
0030945484
-
Epithelial sodium channels - Function, structure and regulation
-
13 Garty H, Palmer LG. Epithelial sodium channels - function, structure and regulation. Physiol Rev 1997; 77:359-396.
-
(1997)
Physiol Rev
, vol.77
, pp. 359-396
-
-
Garty, H.1
Palmer, L.G.2
-
14
-
-
0027933569
-
Hypergene: A clinical and genetic database for genetic analysis in human hypertension
-
14 Charru A, Jeunemaitre X, Soubrier F, Corvol P, Chatellier G. Hypergene: a clinical and genetic database for genetic analysis in human hypertension. J Hypertens 1994; 12:981-985.
-
(1994)
J Hypertens
, vol.12
, pp. 981-985
-
-
Charru, A.1
Jeunemaitre, X.2
Soubrier, F.3
Corvol, P.4
Chatellier, G.5
-
15
-
-
0022283254
-
Direct immunometric assay of active renin in human plasma
-
15 Ménard J, Guyenne T, Corvol P, Pau B, Simon D , Roncucci R. Direct immunometric assay of active renin in human plasma. J Hypertens 1985; 3 (suppl.3):5275-5278.
-
(1985)
J Hypertens
, vol.3
, Issue.SUPPL. 3
, pp. 5275-5278
-
-
Ménard, J.1
Guyenne, T.2
Corvol, P.3
Pau, B.4
Simon, D.5
Roncucci, R.6
-
16
-
-
0024962982
-
Progrès récents dans l'exploration clinique du système rénine. Valeurs récentes et conditions de validité
-
16 Plouin PF, Chatellier G, Guyenne T-T, Vincent N , Corvol P. Progrès récents dans l'exploration clinique du système rénine. Valeurs récentes et conditions de validité. Presse Méd 1989; 18:917-921.
-
(1989)
Presse Méd
, vol.18
, pp. 917-921
-
-
Plouin, P.F.1
Chatellier, G.2
Guyenne, T.-T.3
Vincent, N.4
Corvol, P.5
-
18
-
-
0029962615
-
Genomic organization and the 5′ flanking region of the γ subunit of the human amiloride-sensitive epithelial Na channel
-
18 Thomas CP, Doggett NA, Fisher R, Stokes JB. Genomic organization and the 5′ flanking region of the γ subunit of the human amiloride-sensitive epithelial Na channel. J Biol Chem 1996; 42:26062-26066.
-
(1996)
J Biol Chem
, vol.42
, pp. 26062-26066
-
-
Thomas, C.P.1
Doggett, N.A.2
Fisher, R.3
Stokes, J.B.4
-
19
-
-
0024756969
-
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
-
19 Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5:874-879.
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
-
20
-
-
0028050545
-
Direct sequencing of PCR products in agarose gel slices
-
20 Khorona S, Gagel RF, Cote GJ. Direct sequencing of PCR products in agarose gel slices. Nucl Acids Res 1994; 22:3425-3426.
-
(1994)
Nucl Acids Res
, vol.22
, pp. 3425-3426
-
-
Khorona, S.1
Gagel, R.F.2
Cote, G.J.3
-
21
-
-
0031895104
-
Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel
-
21 Ludwig M, Bolke U, Wickert L, Bidlingmaier F. Common polymorphisms in genes encoding the human mineralocorticoid receptor and the human amiloride-sensitive sodium channel. J Steroid Biochem Mol Biol 1998; 64:227-230.
-
(1998)
J Steroid Biochem Mol Biol
, vol.64
, pp. 227-230
-
-
Ludwig, M.1
Bolke, U.2
Wickert, L.3
Bidlingmaier, F.4
-
22
-
-
0030943971
-
Diversity of channels generated by different combinations of epithelial sodium channel subunits
-
22 McNicholas CM, Canessa CM. Diversity of channels generated by different combinations of epithelial sodium channel subunits. J Gen Physiol 1997; 109:681-692.
-
(1997)
J Gen Physiol
, vol.109
, pp. 681-692
-
-
McNicholas, C.M.1
Canessa, C.M.2
-
24
-
-
0029948974
-
Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome
-
24 Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC. Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J 1996; 15:2381-2387.
-
(1996)
EMBO J
, vol.15
, pp. 2381-2387
-
-
Schild, L.1
Lu, Y.2
Gautschi, I.3
Schneeberger, E.4
Lifton, R.P.5
Rossier, B.C.6
-
25
-
-
0032539923
-
Phosphorylation of the epithelial sodium channel: Effects of kinases and hormones
-
25 Shimkets RA, Lifton RP, Canessa CM. Phosphorylation of the epithelial sodium channel: effects of kinases and hormones. Proc Natl Acad Sci USA 1997; 95:3301-3305.
-
(1997)
Proc Natl Acad Sci USA
, vol.95
, pp. 3301-3305
-
-
Shimkets, R.A.1
Lifton, R.P.2
Canessa, C.M.3
-
26
-
-
0032526243
-
Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system
-
26 Kellenberger S, Gautschi I, Rossier BC, Schild L. Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. J Clin Invest 1998; 12:2741-2750.
-
(1998)
J Clin Invest
, vol.12
, pp. 2741-2750
-
-
Kellenberger, S.1
Gautschi, I.2
Rossier, B.C.3
Schild, L.4
-
28
-
-
0032127970
-
Abnormalities of nasal potential difference measurement in Liddle's syndrome
-
28 Baker E, Jeunemaitre X, Portal AJ, Grimbert P, Markandu N, Persu A, et al. Abnormalities of nasal potential difference measurement in Liddle's syndrome. J Clin Invest 1998; 102:10-14.
-
(1998)
J Clin Invest
, vol.102
, pp. 10-14
-
-
Baker, E.1
Jeunemaitre, X.2
Portal, A.J.3
Grimbert, P.4
Markandu, N.5
Persu, A.6
-
29
-
-
0031040791
-
Role of the α-, β-and γ-subunits of epithelial sodium channel in a model of polygenic hypertension
-
29 Kreutz R, Struk B, Rubattu S, Hübner N, Szpirer J, Szpirer C, et al. Role of the α-, β-and γ-subunits of epithelial sodium channel in a model of polygenic hypertension. Hypertension 1997; 29:131-136.
-
(1997)
Hypertension
, vol.29
, pp. 131-136
-
-
Kreutz, R.1
Struk, B.2
Rubattu, S.3
Hübner, N.4
Szpirer, J.5
Szpirer, C.6
-
30
-
-
0030444762
-
Lack of mutations in epithelial sodium channel β-subunit gene in human subjects with hypertension
-
30 Chang H, Fujita T. Lack of mutations in epithelial sodium channel β-subunit gene in human subjects with hypertension. J Hypertens 1996; 14:1417-1419.
-
(1996)
J Hypertens
, vol.14
, pp. 1417-1419
-
-
Chang, H.1
Fujita, T.2
-
31
-
-
0030405694
-
A novel variant of tho β-subunit of the amiloride-sensitive sodium channel in African-Americans
-
31 Su YR, Rutkowski MP, Klanke CA, Wu X, Cui Y, Pun RYK, et al. A novel variant of tho β-subunit of the amiloride-sensitive sodium channel in African-Americans. J Am Soc Nephrol 1996; 12:2543-2549.
-
(1996)
J Am Soc Nephrol
, vol.12
, pp. 2543-2549
-
-
Su, Y.R.1
Rutkowski, M.P.2
Klanke, C.A.3
Wu, X.4
Cui, Y.5
Pun, R.Y.K.6
-
32
-
-
0031849274
-
Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans
-
32 Munroe PB, Strautnieks SS, Farral M, Daniel HL, Lawson M, DeFreitas P, et al Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans. Am J Hypertens 1998; 11:942-945.
-
(1998)
Am J Hypertens
, vol.11
, pp. 942-945
-
-
Munroe, P.B.1
Strautnieks, S.S.2
Farral, M.3
Daniel, H.L.4
Lawson, M.5
DeFreitas, P.6
-
33
-
-
0032499488
-
Association of hypertension with T594M mutation in β subunit of epithelial sodium channels in black people resident in London
-
33 Baker EH, Dong YB, Sagnella GA, Rothwell M, Onipinia AK, Markandu ND, et al. Association of hypertension with T594M mutation in β subunit of epithelial sodium channels in black people resident in London. Lancet 1998; 351:1398-1392.
-
(1998)
Lancet
, vol.351
, pp. 1398-11392
-
-
Baker, E.H.1
Dong, Y.B.2
Sagnella, G.A.3
Rothwell, M.4
Onipinia, A.K.5
Markandu, N.D.6
-
34
-
-
0013624183
-
Frequency of a polymorphism of the α subunit of the epithelial Na channel
-
34 Persu A, Barbry P, Houot AM, Corvol P, Jeunemaitre X. Frequency of a polymorphism of the α subunit of the epithelial Na Channel [Abstract]. Am J Hypertens 1998; 11 (4part2):6A.
-
(1998)
Am J Hypertens
, vol.11
, Issue.4 PART 2
-
-
Persu, A.1
Barbry, P.2
Houot, A.M.3
Corvol, P.4
Jeunemaitre, X.5
|