-
1
-
-
33846590621
-
Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness
-
Ahmad S., Tang W., Chang Q., Qu Y., Hibshman J., Li Y., Sohl G., Willecke K., Chen P., and Lin X. Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. Proc. Natl Acad. Sci. USA 104 (2007) 1337-1341
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 1337-1341
-
-
Ahmad, S.1
Tang, W.2
Chang, Q.3
Qu, Y.4
Hibshman, J.5
Li, Y.6
Sohl, G.7
Willecke, K.8
Chen, P.9
Lin, X.10
-
2
-
-
0032863480
-
+ channel (Kir4.1) in the intermediate cell (melanocyte) of the cochlear stria vascularis of gerbils and rats
-
+ channel (Kir4.1) in the intermediate cell (melanocyte) of the cochlear stria vascularis of gerbils and rats. Cell Tissue Res. 298 (1999) 179-183
-
(1999)
Cell Tissue Res.
, vol.298
, pp. 179-183
-
-
Ando, M.1
Takeuchi, S.2
-
3
-
-
0026742127
-
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
-
Attree O., Olivos I.M., Okabe I., Bailey L.C., Nelson D.L., Lewis R.A., McInnes R.R., and Nussbaum R.L. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358 (1992) 239-242
-
(1992)
Nature
, vol.358
, pp. 239-242
-
-
Attree, O.1
Olivos, I.M.2
Okabe, I.3
Bailey, L.C.4
Nelson, D.L.5
Lewis, R.A.6
McInnes, R.R.7
Nussbaum, R.L.8
-
4
-
-
0034894817
-
Mucolipidosis type IV
-
Bach G. Mucolipidosis type IV. Mol. Genet. Metab. 73 (2001) 197-203
-
(2001)
Mol. Genet. Metab.
, vol.73
, pp. 197-203
-
-
Bach, G.1
-
5
-
-
43049117188
-
Formation of a new receptor-operated channel by heteromeric assembly of TRPP2 and TRPC1 subunits
-
Bai C.X., Giamarchi A., Rodat-Despoix L., Padilla F., Downs T., Tsiokas L., and Delmas P. Formation of a new receptor-operated channel by heteromeric assembly of TRPP2 and TRPC1 subunits. EMBO Rep. 9 (2008) 472-479
-
(2008)
EMBO Rep.
, vol.9
, pp. 472-479
-
-
Bai, C.X.1
Giamarchi, A.2
Rodat-Despoix, L.3
Padilla, F.4
Downs, T.5
Tsiokas, L.6
Delmas, P.7
-
6
-
-
0030805283
-
Mucolipidosis type IV: Abnormal transport of lipids to lysosomes
-
Bargal R., and Bach G. Mucolipidosis type IV: Abnormal transport of lipids to lysosomes. J. Inherit. Metab. Dis. 20 (1997) 625-632
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 625-632
-
-
Bargal, R.1
Bach, G.2
-
7
-
-
0033822172
-
Identification of the gene causing mucolipidosis type IV
-
Bargal R., Avidan N., Ben-Asher E., Olender Z., Zeigler M., Frumkin A., Raas-Rothschild A., Glusman G., Lancet D., and Bach G. Identification of the gene causing mucolipidosis type IV. Nat. Genet. 26 (2000) 118-123
-
(2000)
Nat. Genet.
, vol.26
, pp. 118-123
-
-
Bargal, R.1
Avidan, N.2
Ben-Asher, E.3
Olender, Z.4
Zeigler, M.5
Frumkin, A.6
Raas-Rothschild, A.7
Glusman, G.8
Lancet, D.9
Bach, G.10
-
8
-
-
0032531425
-
Role of gammaENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronism
-
Barker P.M., Nguyen M.S., Gatzy J.T., Grubb B., Norman H., Hummler E., Rossier B., Boucher R.C., and Koller B. Role of gammaENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronism. J. Clin. Invest. 102 (1998) 1634-1640
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 1634-1640
-
-
Barker, P.M.1
Nguyen, M.S.2
Gatzy, J.T.3
Grubb, B.4
Norman, H.5
Hummler, E.6
Rossier, B.7
Boucher, R.C.8
Koller, B.9
-
9
-
-
0033760264
-
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV
-
Bassi M.T., Manzoni M., Monti E., Pizzo M.T., Ballabio A., and Borsani G. Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am. J. Hum. Genet. 67 (2000) 1110-1120
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1110-1120
-
-
Bassi, M.T.1
Manzoni, M.2
Monti, E.3
Pizzo, M.T.4
Ballabio, A.5
Borsani, G.6
-
10
-
-
0016055082
-
Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis
-
Berman E.R., Livni N., Shapira E., Merin S., and Levij I.S. Congenital corneal clouding with abnormal systemic storage bodies: A new variant of mucolipidosis. J. Pediatr 84 (1974) 519-526
-
(1974)
J. Pediatr
, vol.84
, pp. 519-526
-
-
Berman, E.R.1
Livni, N.2
Shapira, E.3
Merin, S.4
Levij, I.S.5
-
11
-
-
0034118380
-
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q
-
Berry V., Francis P., Kaushal S., Moore A., and Bhattacharya S. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. Nat. Genet. 25 (2000) 15-17
-
(2000)
Nat. Genet.
, vol.25
, pp. 15-17
-
-
Berry, V.1
Francis, P.2
Kaushal, S.3
Moore, A.4
Bhattacharya, S.5
-
12
-
-
33644935227
-
+ ATPase: Molecular structure and function, physiological roles and regulation
-
+ ATPase: Molecular structure and function, physiological roles and regulation. J. Exp. Biol. 209 (2006) 577-589
-
(2006)
J. Exp. Biol.
, vol.209
, pp. 577-589
-
-
Beyenbach, K.W.1
Wieczorek, H.2
-
13
-
-
0035189356
-
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
-
Birkenhäger R., Otto E., Schurmann M.J., Vollmer M., Ruf E.M., Maier-Lutz I., Beekmann F., Fekete A., Omran H., Feldmann D., et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat. Genet. 29 (2001) 310-314
-
(2001)
Nat. Genet.
, vol.29
, pp. 310-314
-
-
Birkenhäger, R.1
Otto, E.2
Schurmann, M.J.3
Vollmer, M.4
Ruf, E.M.5
Maier-Lutz, I.6
Beekmann, F.7
Fekete, A.8
Omran, H.9
Feldmann, D.10
-
14
-
-
0037171857
-
Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4
-
Boettger T., Hübner C.A., Maier H., Rust M.B., Beck F.X., and Jentsch T.J. Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4. Nature 416 (2002) 874-878
-
(2002)
Nature
, vol.416
, pp. 874-878
-
-
Boettger, T.1
Hübner, C.A.2
Maier, H.3
Rust, M.B.4
Beck, F.X.5
Jentsch, T.J.6
-
15
-
-
10744230446
-
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold
-
Boettger T., Rust M.B., Maier H., Seidenbecher T., Schweizer M., Keating D.J., Faulhaber J., Ehmke H., Pfeffer C., Scheel O., et al. Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. EMBO J. 22 (2003) 5422-5434
-
(2003)
EMBO J.
, vol.22
, pp. 5422-5434
-
-
Boettger, T.1
Rust, M.B.2
Maier, H.3
Seidenbecher, T.4
Schweizer, M.5
Keating, D.J.6
Faulhaber, J.7
Ehmke, H.8
Pfeffer, C.9
Scheel, O.10
-
18
-
-
26444444017
-
Cation channel activity of mucolipin-1: The effect of calcium
-
Cantiello H.F., Montalbetti N., Goldmann W.H., Raychowdhury M.K., Gonzalez-Perrett S., Timpanaro G.A., and Chasan B. Cation channel activity of mucolipin-1: The effect of calcium. Pflugers Arch. 451 (2005) 304-312
-
(2005)
Pflugers Arch.
, vol.451
, pp. 304-312
-
-
Cantiello, H.F.1
Montalbetti, N.2
Goldmann, W.H.3
Raychowdhury, M.K.4
Gonzalez-Perrett, S.5
Timpanaro, G.A.6
Chasan, B.7
-
19
-
-
1842583683
-
Basolateral ClC-2 chloride channels in surface colon epithelium: Regulation by a direct effect of intracellular chloride
-
Catalan M., Niemeyer M.I., Cid L.P., and Sepulveda F.V. Basolateral ClC-2 chloride channels in surface colon epithelium: Regulation by a direct effect of intracellular chloride. Gastroenterology 126 (2004) 1104-1114
-
(2004)
Gastroenterology
, vol.126
, pp. 1104-1114
-
-
Catalan, M.1
Niemeyer, M.I.2
Cid, L.P.3
Sepulveda, F.V.4
-
20
-
-
0037393446
-
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human
-
Chalhoub N., Benachenhou N., Rajapurohitam V., Pata M., Ferron M., Frattini A., Villa A., and Vacher J. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat. Med. 9 (2003) 399-406
-
(2003)
Nat. Med.
, vol.9
, pp. 399-406
-
-
Chalhoub, N.1
Benachenhou, N.2
Rajapurohitam, V.3
Pata, M.4
Ferron, M.5
Frattini, A.6
Villa, A.7
Vacher, J.8
-
21
-
-
13344295074
-
Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
-
Chang S.S., Gründer S., Hanukoglu A., Rosler A., Mathew P.M., Hanukoglu I., Schild L., Lu Y., Shimkets R.A., Nelson-Williams C., et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat. Genet. 12 (1996) 248-253
-
(1996)
Nat. Genet.
, vol.12
, pp. 248-253
-
-
Chang, S.S.1
Gründer, S.2
Hanukoglu, A.3
Rosler, A.4
Mathew, P.M.5
Hanukoglu, I.6
Schild, L.7
Lu, Y.8
Shimkets, R.A.9
Nelson-Williams, C.10
-
22
-
-
0025242929
-
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
-
Cheng S.H., Gregory R.J., Marshall J., Paul S., Souza D.W., White G.A., O'Riordan C.R., and Smith A.E. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63 (1990) 827-834
-
(1990)
Cell
, vol.63
, pp. 827-834
-
-
Cheng, S.H.1
Gregory, R.J.2
Marshall, J.3
Paul, S.4
Souza, D.W.5
White, G.A.6
O'Riordan, C.R.7
Smith, A.E.8
-
24
-
-
34347224756
-
No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations
-
Clancy J.P., Rowe S.M., Bebok Z., Aitken M.L., Gibson R., Zeitlin P., Berclaz P., Moss R., Knowles M.R., Oster R.A., et al. No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. Am. J. Respir. Cell Mol. Biol. 37 (2007) 57-66
-
(2007)
Am. J. Respir. Cell Mol. Biol.
, vol.37
, pp. 57-66
-
-
Clancy, J.P.1
Rowe, S.M.2
Bebok, Z.3
Aitken, M.L.4
Gibson, R.5
Zeitlin, P.6
Berclaz, P.7
Moss, R.8
Knowles, M.R.9
Oster, R.A.10
-
25
-
-
0026640380
-
Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis
-
Clarke L.L., Grubb B.R., Gabriel S.E., Smithies O., Koller B.H., and Boucher R.C. Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis. Science 257 (1992) 1125-1128
-
(1992)
Science
, vol.257
, pp. 1125-1128
-
-
Clarke, L.L.1
Grubb, B.R.2
Gabriel, S.E.3
Smithies, O.4
Koller, B.H.5
Boucher, R.C.6
-
26
-
-
18244389008
-
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene
-
Cleiren E., Benichou O., Van Hul E., Gram J., Bollerslev J., Singer F.R., Beaverson K., Aledo A., Whyte M.P., Yoneyama T., et al. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum. Mol. Genet. 10 (2001) 2861-2867
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2861-2867
-
-
Cleiren, E.1
Benichou, O.2
Van Hul, E.3
Gram, J.4
Bollerslev, J.5
Singer, F.R.6
Beaverson, K.7
Aledo, A.8
Whyte, M.P.9
Yoneyama, T.10
-
27
-
-
0037046804
-
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
-
Cohen-Salmon M., Ott T., Michel V., Hardelin J.P., Perfettini I., Eybalin M., Wu T., Marcus D.C., Wangemann P., Willecke K., and Petit C. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr. Biol. 12 (2002) 1106-1111
-
(2002)
Curr. Biol.
, vol.12
, pp. 1106-1111
-
-
Cohen-Salmon, M.1
Ott, T.2
Michel, V.3
Hardelin, J.P.4
Perfettini, I.5
Eybalin, M.6
Wu, T.7
Marcus, D.C.8
Wangemann, P.9
Willecke, K.10
Petit, C.11
-
28
-
-
0028326794
-
Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
-
Deen P.M., Verdijk M.A., Knoers N.V., Wieringa B., Monnens L.A., van Os C.H., and van Oost B.A. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 264 (1994) 92-95
-
(1994)
Science
, vol.264
, pp. 92-95
-
-
Deen, P.M.1
Verdijk, M.A.2
Knoers, N.V.3
Wieringa, B.4
Monnens, L.A.5
van Os, C.H.6
van Oost, B.A.7
-
29
-
-
0033037730
-
Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter
-
Delpire E., Lu J., England R., Dull C., and Thorne T. Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter. Nat. Genet. 22 (1999) 192-195
-
(1999)
Nat. Genet.
, vol.22
, pp. 192-195
-
-
Delpire, E.1
Lu, J.2
England, R.3
Dull, C.4
Thorne, T.5
-
30
-
-
0032575085
-
Connexin 26 gene linked to a dominant deafness
-
Denoyelle F., Lina-Granade G., Plauchu H., Bruzzone R., Chaib H., Levi-Acobas F., Weil D., and Petit C. Connexin 26 gene linked to a dominant deafness. Nature 393 (1998) 319-320
-
(1998)
Nature
, vol.393
, pp. 319-320
-
-
Denoyelle, F.1
Lina-Granade, G.2
Plauchu, H.3
Bruzzone, R.4
Chaib, H.5
Levi-Acobas, F.6
Weil, D.7
Petit, C.8
-
31
-
-
23344454472
-
-/- mice
-
-/- mice. Mol. Cell. Biol. 25 (2005) 6980-6989
-
(2005)
Mol. Cell. Biol.
, vol.25
, pp. 6980-6989
-
-
Dietrich, A.1
Mederos, Y.S.M.2
Gollasch, M.3
Gross, V.4
Storch, U.5
Dubrovska, G.6
Obst, M.7
Yildirim, E.8
Salanova, B.9
Kalwa, H.10
-
32
-
-
0037040995
-
Regulation of the epithelial sodium channel by serine proteases in human airways
-
Donaldson S.H., Hirsh A., Li D.C., Holloway G., Chao J., Boucher R.C., and Gabriel S.E. Regulation of the epithelial sodium channel by serine proteases in human airways. J. Biol. Chem. 277 (2002) 8338-8345
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 8338-8345
-
-
Donaldson, S.H.1
Hirsh, A.2
Li, D.C.3
Holloway, G.4
Chao, J.5
Boucher, R.C.6
Gabriel, S.E.7
-
33
-
-
22844445484
-
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder
-
Du W., Bautista J.F., Yang H., Diez-Sampedro A., You S.A., Wang L., Kotagal P., Luders H.O., Shi J., Cui J., et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat. Genet. 37 (2005) 733-738
-
(2005)
Nat. Genet.
, vol.37
, pp. 733-738
-
-
Du, W.1
Bautista, J.F.2
Yang, H.3
Diez-Sampedro, A.4
You, S.A.5
Wang, L.6
Kotagal, P.7
Luders, H.O.8
Shi, J.9
Cui, J.10
-
35
-
-
0034811429
-
Genetic analysis of endocytosis in Caenorhabditis elegans: Coelomocyte uptake defective mutants
-
Fares H., and Greenwald I. Genetic analysis of endocytosis in Caenorhabditis elegans: Coelomocyte uptake defective mutants. Genetics 159 (2001) 133-145
-
(2001)
Genetics
, vol.159
, pp. 133-145
-
-
Fares, H.1
Greenwald, I.2
-
36
-
-
33845367917
-
The functional variant of the CLC-Kb channel T481S is not associated with blood pressure or hypertension in Swedes
-
Fava C., Montagnana M., Almgren P., Rosberg L., Guidi G.C., Berglund G., and Melander O. The functional variant of the CLC-Kb channel T481S is not associated with blood pressure or hypertension in Swedes. J. Hypertens. 25 (2007) 111-116
-
(2007)
J. Hypertens.
, vol.25
, pp. 111-116
-
-
Fava, C.1
Montagnana, M.2
Almgren, P.3
Rosberg, L.4
Guidi, G.C.5
Berglund, G.6
Melander, O.7
-
37
-
-
0034698003
-
Surface tongue-and-groove contours on lens MIP facilitate cell-to-cell adherence
-
Fotiadis D., Hasler L., Muller D.J., Stahlberg H., Kistler J., and Engel A. Surface tongue-and-groove contours on lens MIP facilitate cell-to-cell adherence. J. Mol. Biol. 300 (2000) 779-789
-
(2000)
J. Mol. Biol.
, vol.300
, pp. 779-789
-
-
Fotiadis, D.1
Hasler, L.2
Muller, D.J.3
Stahlberg, H.4
Kistler, J.5
Engel, A.6
-
38
-
-
0033946477
-
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis
-
Frattini A., Orchard P.J., Sobacchi C., Giliani S., Abinun M., Mattsson J.P., Keeling D.J., Andersson A.K., Wallbrandt P., Zecca L., et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat. Genet. 25 (2000) 343-346
-
(2000)
Nat. Genet.
, vol.25
, pp. 343-346
-
-
Frattini, A.1
Orchard, P.J.2
Sobacchi, C.3
Giliani, S.4
Abinun, M.5
Mattsson, J.P.6
Keeling, D.J.7
Andersson, A.K.8
Wallbrandt, P.9
Zecca, L.10
-
39
-
-
33645307384
-
The ABC protein turned chloride channel whose failure causes cystic fibrosis
-
Gadsby D.C., Vergani P., and Csanady L. The ABC protein turned chloride channel whose failure causes cystic fibrosis. Nature 440 (2006) 477-483
-
(2006)
Nature
, vol.440
, pp. 477-483
-
-
Gadsby, D.C.1
Vergani, P.2
Csanady, L.3
-
40
-
-
0142073812
-
Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist
-
Gattone II V.H., Wang X., Harris P.C., and Torres V.E. Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat. Med. 9 (2003) 1323-1326
-
(2003)
Nat. Med.
, vol.9
, pp. 1323-1326
-
-
Gattone II, V.H.1
Wang, X.2
Harris, P.C.3
Torres, V.E.4
-
41
-
-
0031861245
-
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
-
Geller D.S., Rodriguez-Soriano J., Vallo Boado A., Schifter S., Bayer M., Chang S.S., and Lifton R.P. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat. Genet. 19 (1998) 279-281
-
(1998)
Nat. Genet.
, vol.19
, pp. 279-281
-
-
Geller, D.S.1
Rodriguez-Soriano, J.2
Vallo Boado, A.3
Schifter, S.4
Bayer, M.5
Chang, S.S.6
Lifton, R.P.7
-
42
-
-
0021712623
-
The major intrinsic protein (MIP) of the bovine lens fiber membrane: Characterization and structure based on cDNA cloning
-
Gorin M.B., Yancey S.B., Cline J., Revel J.P., and Horwitz J. The major intrinsic protein (MIP) of the bovine lens fiber membrane: Characterization and structure based on cDNA cloning. Cell 39 (1984) 49-59
-
(1984)
Cell
, vol.39
, pp. 49-59
-
-
Gorin, M.B.1
Yancey, S.B.2
Cline, J.3
Revel, J.P.4
Horwitz, J.5
-
43
-
-
0032846415
-
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
-
Grifa A., Wagner C.A., D'Ambrosio L., Melchionda S., Bernardi F., Lopez-Bigas N., Rabionet R., Arbones M., Monica M.D., Estivill X., et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat. Genet. 23 (1999) 16-18
-
(1999)
Nat. Genet.
, vol.23
, pp. 16-18
-
-
Grifa, A.1
Wagner, C.A.2
D'Ambrosio, L.3
Melchionda, S.4
Bernardi, F.5
Lopez-Bigas, N.6
Rabionet, R.7
Arbones, M.8
Monica, M.D.9
Estivill, X.10
-
44
-
-
34547700632
-
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia
-
Groenestege W.M., Thebault S., van der Wijst J., van den Berg D., Janssen R., Tejpar S., van den Heuvel L.P., van Cutsem E., Hoenderop J.G., Knoers N.V., and Bindels R.J. Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J. Clin. Invest. 117 (2007) 2260-2267
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 2260-2267
-
-
Groenestege, W.M.1
Thebault, S.2
van der Wijst, J.3
van den Berg, D.4
Janssen, R.5
Tejpar, S.6
van den Heuvel, L.P.7
van Cutsem, E.8
Hoenderop, J.G.9
Knoers, N.V.10
Bindels, R.J.11
-
45
-
-
0033525780
-
Cystic fibrosis and the salt controversy
-
Guggino W.B. Cystic fibrosis and the salt controversy. Cell 96 (1999) 607-610
-
(1999)
Cell
, vol.96
, pp. 607-610
-
-
Guggino, W.B.1
-
46
-
-
0032493276
-
ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells
-
Günther W., Luchow A., Cluzeaud F., Vandewalle A., and Jentsch T.J. ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc. Natl Acad. Sci. USA 95 (1998) 8075-8080
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 8075-8080
-
-
Günther, W.1
Luchow, A.2
Cluzeaud, F.3
Vandewalle, A.4
Jentsch, T.J.5
-
47
-
-
0037274891
-
The ClC-5 chloride channel knock-out mouse-An animal model for Dent's disease
-
Günther W., Piwon N., and Jentsch T.J. The ClC-5 chloride channel knock-out mouse-An animal model for Dent's disease. Pflugers Arch. 445 (2003) 456-462
-
(2003)
Pflugers Arch.
, vol.445
, pp. 456-462
-
-
Günther, W.1
Piwon, N.2
Jentsch, T.J.3
-
48
-
-
0028834520
-
Increasing incidence of focal-segmental glomerulosclerosis among adult nephropathies: A 20-year renal biopsy study
-
Haas M., Spargo B.H., and Coventry S. Increasing incidence of focal-segmental glomerulosclerosis among adult nephropathies: A 20-year renal biopsy study. Am. J. Kidney Dis. 26 (1995) 740-750
-
(1995)
Am. J. Kidney Dis.
, vol.26
, pp. 740-750
-
-
Haas, M.1
Spargo, B.H.2
Coventry, S.3
-
49
-
-
0034700483
-
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents
-
Hanaoka K., Qian F., Boletta A., Bhunia A.K., Piontek K., Tsiokas L., Sukhatme V.P., Guggino W.B., and Germino G.G. Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents. Nature 408 (2000) 990-994
-
(2000)
Nature
, vol.408
, pp. 990-994
-
-
Hanaoka, K.1
Qian, F.2
Boletta, A.3
Bhunia, A.K.4
Piontek, K.5
Tsiokas, L.6
Sukhatme, V.P.7
Guggino, W.B.8
Germino, G.G.9
-
50
-
-
0029092801
-
Hypertension caused by a truncated epithelial sodium channel gamma subunit: Genetic heterogeneity of Liddle syndrome
-
Hansson J.H., Nelson-Williams C., Suzuki H., Schild L., Shimkets R., Lu Y., Canessa C., Iwasaki T., Rossier B., and Lifton R.P. Hypertension caused by a truncated epithelial sodium channel gamma subunit: Genetic heterogeneity of Liddle syndrome. Nat. Genet. 11 (1995) 76-82
-
(1995)
Nat. Genet.
, vol.11
, pp. 76-82
-
-
Hansson, J.H.1
Nelson-Williams, C.2
Suzuki, H.3
Schild, L.4
Shimkets, R.5
Lu, Y.6
Canessa, C.7
Iwasaki, T.8
Rossier, B.9
Lifton, R.P.10
-
51
-
-
0029586683
-
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 J.H., Schild L., Lu Y., Wilson T.A., Gautschi I., Shimkets R., Nelson-Williams C., Rossier B.C., and Lifton R.P. 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. Proc. Natl Acad. Sci. USA 92 (1995) 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
Nelson-Williams, C.7
Rossier, B.C.8
Lifton, R.P.9
-
52
-
-
33846995467
-
A novel neutrophil elastase inhibitor prevents elastase activation and surface cleavage of the epithelial sodium channel expressed in Xenopus laevis oocytes
-
Harris M., Firsov D., Vuagniaux G., Stutts M.J., and Rossier B.C. A novel neutrophil elastase inhibitor prevents elastase activation and surface cleavage of the epithelial sodium channel expressed in Xenopus laevis oocytes. J. Biol. Chem. 282 (2007) 58-64
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 58-64
-
-
Harris, M.1
Firsov, D.2
Vuagniaux, G.3
Stutts, M.J.4
Rossier, B.C.5
-
53
-
-
10044235073
-
Evaluation of second generation amiloride analogs as therapy for cystic fibrosis lung disease
-
Hirsh A.J., Sabater J.R., Zamurs A., Smith R.T., Paradiso A.M., Hopkins S., Abraham W.M., and Boucher R.C. Evaluation of second generation amiloride analogs as therapy for cystic fibrosis lung disease. J. Pharmacol. Exp. Ther. 311 (2004) 929-938
-
(2004)
J. Pharmacol. Exp. Ther.
, vol.311
, pp. 929-938
-
-
Hirsh, A.J.1
Sabater, J.R.2
Zamurs, A.3
Smith, R.T.4
Paradiso, A.M.5
Hopkins, S.6
Abraham, W.M.7
Boucher, R.C.8
-
54
-
-
41149164824
-
Pharmacological properties of N-(3,5-diamino-6-chloropyrazine-2-carbonyl)-N′-4-[4-(2,3-dihydroxypropoxy)phenyl]butyl-guanidine methanesulfonate (552-02), a novel epithelial sodium channel blocker with potential clinical efficacy for cystic fibrosis lung disease
-
Hirsh A.J., Zhang J., Zamurs A., Fleegle J., Thelin W.R., Caldwell R.A., Sabater J.R., Abraham W.M., Donowitz M., Cha B., et al. Pharmacological properties of N-(3,5-diamino-6-chloropyrazine-2-carbonyl)-N′-4-[4-(2,3-dihydroxypropoxy)phenyl]butyl-guanidine methanesulfonate (552-02), a novel epithelial sodium channel blocker with potential clinical efficacy for cystic fibrosis lung disease. J. Pharmacol. Exp. Ther. 325 (2008) 77-88
-
(2008)
J. Pharmacol. Exp. Ther.
, vol.325
, pp. 77-88
-
-
Hirsh, A.J.1
Zhang, J.2
Zamurs, A.3
Fleegle, J.4
Thelin, W.R.5
Caldwell, R.A.6
Sabater, J.R.7
Abraham, W.M.8
Donowitz, M.9
Cha, B.10
-
55
-
-
19944432314
-
Dent disease with mutations in OCRL1
-
Hoopes Jr. R.R., Shrimpton A.E., Knohl S.J., Hueber P., Hoppe B., Matyus J., Simckes A., Tasic V., Toenshoff B., Suchy S.F., et al. Dent disease with mutations in OCRL1. Am. J. Hum. Genet. 76 (2005) 260-267
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 260-267
-
-
Hoopes Jr., R.R.1
Shrimpton, A.E.2
Knohl, S.J.3
Hueber, P.4
Hoppe, B.5
Matyus, J.6
Simckes, A.7
Tasic, V.8
Toenshoff, B.9
Suchy, S.F.10
-
56
-
-
11244331526
-
Nedd4-2 functionally interacts with ClC-5: Involvement in constitutive albumin endocytosis in proximal tubule cells
-
Hryciw D.H., Ekberg J., Lee A., Lensink I.L., Kumar S., Guggino W.B., Cook D.I., Pollock C.A., and Poronnik P. Nedd4-2 functionally interacts with ClC-5: Involvement in constitutive albumin endocytosis in proximal tubule cells. J. Biol. Chem. 279 (2004) 54996-55007
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 54996-55007
-
-
Hryciw, D.H.1
Ekberg, J.2
Lee, A.3
Lensink, I.L.4
Kumar, S.5
Guggino, W.B.6
Cook, D.I.7
Pollock, C.A.8
Poronnik, P.9
-
57
-
-
0029935712
-
Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice
-
Hummler E., Barker P., Gatzy J., Beermann F., Verdumo C., Schmidt A., Boucher R., and Rossier B.C. Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat. Genet. 12 (1996) 325-328
-
(1996)
Nat. Genet.
, vol.12
, pp. 325-328
-
-
Hummler, E.1
Barker, P.2
Gatzy, J.3
Beermann, F.4
Verdumo, C.5
Schmidt, A.6
Boucher, R.7
Rossier, B.C.8
-
58
-
-
34548813656
-
Structure of acid-sensing ion channel 1 at 1.9 A resolution and low pH
-
Jasti J., Furukawa H., Gonzales E.B., and Gouaux E. Structure of acid-sensing ion channel 1 at 1.9 A resolution and low pH. Nature 449 (2007) 316-323
-
(2007)
Nature
, vol.449
, pp. 316-323
-
-
Jasti, J.1
Furukawa, H.2
Gonzales, E.B.3
Gouaux, E.4
-
59
-
-
0347362500
-
A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity
-
Jeck N., Waldegger P., Doroszewicz J., Seyberth H., and Waldegger S. A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity. Kidney Int 65 (2004) 190-197
-
(2004)
Kidney Int
, vol.65
, pp. 190-197
-
-
Jeck, N.1
Waldegger, P.2
Doroszewicz, J.3
Seyberth, H.4
Waldegger, S.5
-
60
-
-
2542446285
-
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension
-
Jeck N., Waldegger S., Lampert A., Boehmer C., Waldegger P., Lang P.A., Wissinger B., Friedrich B., Risler T., Moehle R., et al. Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension 43 (2004) 1175-1181
-
(2004)
Hypertension
, vol.43
, pp. 1175-1181
-
-
Jeck, N.1
Waldegger, S.2
Lampert, A.3
Boehmer, C.4
Waldegger, P.5
Lang, P.A.6
Wissinger, B.7
Friedrich, B.8
Risler, T.9
Moehle, R.10
-
61
-
-
33846517681
-
Chloride and the endosomal-lysosomal pathway: Emerging roles of CLC chloride transporters
-
Jentsch T.J. Chloride and the endosomal-lysosomal pathway: Emerging roles of CLC chloride transporters. J. Physiol 578 (2007) 633-640
-
(2007)
J. Physiol
, vol.578
, pp. 633-640
-
-
Jentsch, T.J.1
-
63
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W., Foo J.N., O'Roak B.J., Zhao H., Larson M.G., Simon D.B., Newton-Cheh C., State M.W., Levy D., and Lifton R.P. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet 40 (2008) 592-599
-
(2008)
Nat. Genet
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
Zhao, H.4
Larson, M.G.5
Simon, D.B.6
Newton-Cheh, C.7
State, M.W.8
Levy, D.9
Lifton, R.P.10
-
64
-
-
0028318868
-
Molecular structure of the water channel through aquaporin CHIP. The hourglass model
-
Jung J.S., Preston G.M., Smith B.L., Guggino W.B., and Agre P. Molecular structure of the water channel through aquaporin CHIP. The hourglass model. J. Biol. Chem. 269 (1994) 14648-14654
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 14648-14654
-
-
Jung, J.S.1
Preston, G.M.2
Smith, B.L.3
Guggino, W.B.4
Agre, P.5
-
65
-
-
20144387287
-
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration
-
Kasper D., Planells-Cases R., Fuhrmann J.C., Scheel O., Zeitz O., Ruether K., Schmitt A., Poët M., Steinfeld R., Schweizer M., et al. Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. EMBO J. 24 (2005) 1079-1091
-
(2005)
EMBO J.
, vol.24
, pp. 1079-1091
-
-
Kasper, D.1
Planells-Cases, R.2
Fuhrmann, J.C.3
Scheel, O.4
Zeitz, O.5
Ruether, K.6
Schmitt, A.7
Poët, M.8
Steinfeld, R.9
Schweizer, M.10
-
66
-
-
0031007349
-
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
-
Kelsell D.P., Dunlop J., Stevens H.P., Lench N.J., Liang J.N., Parry G., Mueller R.F., and Leigh I.M. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387 (1997) 80-83
-
(1997)
Nature
, vol.387
, pp. 80-83
-
-
Kelsell, D.P.1
Dunlop, J.2
Stevens, H.P.3
Lench, N.J.4
Liang, J.N.5
Parry, G.6
Mueller, R.F.7
Leigh, I.M.8
-
67
-
-
32544435803
-
+ channels implicate sensory outer hair cells in human progressive deafness
-
+ channels implicate sensory outer hair cells in human progressive deafness. EMBO J. 25 (2006) 642-652
-
(2006)
EMBO J.
, vol.25
, pp. 642-652
-
-
Kharkovets, T.1
Dedek, K.2
Maier, H.3
Schweizer, M.4
Khimich, D.5
Nouvian, R.6
Vardanyan, V.7
Leuwer, R.8
Moser, T.9
Jentsch, T.J.10
-
68
-
-
0034108747
-
Gap junction systems in the mammalian cochlea
-
Kikuchi T., Kimura R.S., Paul D.L., Takasaka T., and Adams J.C. Gap junction systems in the mammalian cochlea. Brain Res. 32 (2000) 163-166
-
(2000)
Brain Res.
, vol.32
, pp. 163-166
-
-
Kikuchi, T.1
Kimura, R.S.2
Paul, D.L.3
Takasaka, T.4
Adams, J.C.5
-
69
-
-
0035913207
-
Defective urinary-concentrating ability due to a complete deficiency of aquaporin-1
-
King L.S., Choi M., Fernandez P.C., Cartron J.P., and Agre P. Defective urinary-concentrating ability due to a complete deficiency of aquaporin-1. N. Engl. J. Med. 345 (2001) 175-179
-
(2001)
N. Engl. J. Med.
, vol.345
, pp. 175-179
-
-
King, L.S.1
Choi, M.2
Fernandez, P.C.3
Cartron, J.P.4
Agre, P.5
-
70
-
-
30044439235
-
TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage
-
Kiselyov K., Chen J., Rbaibi Y., Oberdick D., Tjon-Kon-Sang S., Shcheynikov N., Muallem S., and Soyombo A. TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage. J. Biol. Chem. 280 (2005) 43218-43223
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 43218-43223
-
-
Kiselyov, K.1
Chen, J.2
Rbaibi, Y.3
Oberdick, D.4
Tjon-Kon-Sang, S.5
Shcheynikov, N.6
Muallem, S.7
Soyombo, A.8
-
71
-
-
2342449944
-
Gating of CFTR by the STAS domain of SLC26 transporters
-
Ko S.B., Zeng W., Dorwart M.R., Luo X., Kim K.H., Millen L., Goto H., Naruse S., Soyombo A., Thomas P.J., and Muallem S. Gating of CFTR by the STAS domain of SLC26 transporters. Nat. Cell Biol. 6 (2004) 343-350
-
(2004)
Nat. Cell Biol.
, vol.6
, pp. 343-350
-
-
Ko, S.B.1
Zeng, W.2
Dorwart, M.R.3
Luo, X.4
Kim, K.H.5
Millen, L.6
Goto, H.7
Naruse, S.8
Soyombo, A.9
Thomas, P.J.10
Muallem, S.11
-
72
-
-
14644432480
-
Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population-The Suita Study
-
Kokubo Y., Iwai N., Tago N., Inamoto N., Okayama A., Yamawaki H., Naraba H., and Tomoike H. Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population-The Suita Study. Circ. J. 69 (2005) 138-142
-
(2005)
Circ. J.
, vol.69
, pp. 138-142
-
-
Kokubo, Y.1
Iwai, N.2
Tago, N.3
Inamoto, N.4
Okayama, A.5
Yamawaki, H.6
Naraba, H.7
Tomoike, H.8
-
73
-
-
0028015883
-
Bronchoalveolar lavage findings in cystic fibrosis patients with stable, clinically mild lung disease suggest ongoing infection and inflammation
-
Konstan M.W., Hilliard K.A., Norvell T.M., and Berger M. Bronchoalveolar lavage findings in cystic fibrosis patients with stable, clinically mild lung disease suggest ongoing infection and inflammation. Am. J. Respir. Crit. Care Med. 150 (1994) 448-454
-
(1994)
Am. J. Respir. Crit. Care Med.
, vol.150
, pp. 448-454
-
-
Konstan, M.W.1
Hilliard, K.A.2
Norvell, T.M.3
Berger, M.4
-
74
-
-
0034641590
-
+-ATPase cause infantile malignant osteopetrosis
-
+-ATPase cause infantile malignant osteopetrosis. Hum. Mol. Genet. 9 (2000) 2059-2063
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2059-2063
-
-
Kornak, U.1
Schulz, A.2
Friedrich, W.3
Uhlhaas, S.4
Kremens, B.5
Voit, T.6
Hasan, C.7
Bode, U.8
Jentsch, T.J.9
Kubisch, C.10
-
75
-
-
0035951282
-
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man
-
Kornak U., Kasper D., Bösl M.R., Kaiser E., Schweizer M., Schulz A., Friedrich W., Delling G., and Jentsch T.J. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104 (2001) 205-215
-
(2001)
Cell
, vol.104
, pp. 205-215
-
-
Kornak, U.1
Kasper, D.2
Bösl, M.R.3
Kaiser, E.4
Schweizer, M.5
Schulz, A.6
Friedrich, W.7
Delling, G.8
Jentsch, T.J.9
-
76
-
-
0036122434
-
Polycystin-2 is an intracellular calcium release channel
-
Koulen P., Cai Y., Geng L., Maeda Y., Nishimura S., Witzgall R., Ehrlich B.E., and Somlo S. Polycystin-2 is an intracellular calcium release channel. Nat. Cell Biol. 4 (2002) 191-197
-
(2002)
Nat. Cell Biol.
, vol.4
, pp. 191-197
-
-
Koulen, P.1
Cai, Y.2
Geng, L.3
Maeda, Y.4
Nishimura, S.5
Witzgall, R.6
Ehrlich, B.E.7
Somlo, S.8
-
77
-
-
0032537773
-
Expression of a potassium current in inner hair cells during development of hearing in mice
-
Kros C.J., Ruppersberg J.P., and Rusch A. Expression of a potassium current in inner hair cells during development of hearing in mice. Nature 394 (1998) 281-284
-
(1998)
Nature
, vol.394
, pp. 281-284
-
-
Kros, C.J.1
Ruppersberg, J.P.2
Rusch, A.3
-
78
-
-
0033524936
-
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
-
Kubisch C., Schroeder B.C., Friedrich T., Lütjohann B., El-Amraoui A., Marlin S., Petit C., and Jentsch T.J. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96 (1999) 437-446
-
(1999)
Cell
, vol.96
, pp. 437-446
-
-
Kubisch, C.1
Schroeder, B.C.2
Friedrich, T.3
Lütjohann, B.4
El-Amraoui, A.5
Marlin, S.6
Petit, C.7
Jentsch, T.J.8
-
79
-
-
33644861728
-
ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function
-
Lange P.F., Wartosch L., Jentsch T.J., and Fuhrmann J.C. ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function. Nature 440 (2006) 220-223
-
(2006)
Nature
, vol.440
, pp. 220-223
-
-
Lange, P.F.1
Wartosch, L.2
Jentsch, T.J.3
Fuhrmann, J.C.4
-
80
-
-
18744363612
-
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway
-
LaPlante J.M., Falardeau J., Sun M., Kanazirska M., Brown E.M., Slaugenhaupt S.A., and Vassilev P.M. Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett. 532 (2002) 183-187
-
(2002)
FEBS Lett.
, vol.532
, pp. 183-187
-
-
LaPlante, J.M.1
Falardeau, J.2
Sun, M.3
Kanazirska, M.4
Brown, E.M.5
Slaugenhaupt, S.A.6
Vassilev, P.M.7
-
81
-
-
36348965454
-
Lung transplantation and survival in children with cystic fibrosis
-
Liou T.G., Adler F.R., Cox D.R., and Cahill B.C. Lung transplantation and survival in children with cystic fibrosis. N. Engl. J. Med. 357 (2007) 2143-2152
-
(2007)
N. Engl. J. Med.
, vol.357
, pp. 2143-2152
-
-
Liou, T.G.1
Adler, F.R.2
Cox, D.R.3
Cahill, B.C.4
-
82
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
Lloyd S.E., Pearce S.H., Fisher S.E., Steinmeyer K., Schwappach B., Scheinman S.J., Harding B., Bolino A., Devoto M., Goodyer P., et al. A common molecular basis for three inherited kidney stone diseases. Nature 379 (1996) 445-449
-
(1996)
Nature
, vol.379
, pp. 445-449
-
-
Lloyd, S.E.1
Pearce, S.H.2
Fisher, S.E.3
Steinmeyer, K.4
Schwappach, B.5
Scheinman, S.J.6
Harding, B.7
Bolino, A.8
Devoto, M.9
Goodyer, P.10
-
83
-
-
29744470060
-
Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease
-
Low S.H., Vasanth S., Larson C.H., Mukherjee S., Sharma N., Kinter M.T., Kane M.E., Obara T., and Weimbs T. Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease. Dev. Cell. 10 (2006) 57-69
-
(2006)
Dev. Cell.
, vol.10
, pp. 57-69
-
-
Low, S.H.1
Vasanth, S.2
Larson, C.H.3
Mukherjee, S.4
Sharma, N.5
Kinter, M.T.6
Kane, M.E.7
Obara, T.8
Weimbs, T.9
-
85
-
-
0033574002
-
+ channel in mice: Hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype
-
+ channel in mice: Hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype. Proc. Natl Acad. Sci. USA 96 (1999) 1727-1731
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, pp. 1727-1731
-
-
McDonald, F.J.1
Yang, B.2
Hrstka, R.F.3
Drummond, H.A.4
Tarr, D.E.5
McCray Jr., P.B.6
Stokes, J.B.7
Welsh, M.J.8
Williamson, R.A.9
-
86
-
-
0033763089
-
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit
-
Meij I.C., Koenderink J.B., van Bokhoven H., Assink K.F., Groenestege W.T., de Pont J.J., Bindels R.J., Monnens L.A., van den Heuvel L.P., and Knoers N.V. Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat. Genet. 26 (2000) 265-266
-
(2000)
Nat. Genet.
, vol.26
, pp. 265-266
-
-
Meij, I.C.1
Koenderink, J.B.2
van Bokhoven, H.3
Assink, K.F.4
Groenestege, W.T.5
de Pont, J.J.6
Bindels, R.J.7
Monnens, L.A.8
van den Heuvel, L.P.9
Knoers, N.V.10
-
87
-
-
0016704237
-
Mucolipidosis IV: Ocular, systemic, and ultrastructural findings
-
Merin S., Livni N., Berman E.R., and Yatziv S. Mucolipidosis IV: Ocular, systemic, and ultrastructural findings. Invest. Ophthalmol 14 (1975) 437-448
-
(1975)
Invest. Ophthalmol
, vol.14
, pp. 437-448
-
-
Merin, S.1
Livni, N.2
Berman, E.R.3
Yatziv, S.4
-
88
-
-
0035896522
-
ClC-2 contributes to native chloride secretion by a human intestinal cell line, Caco-2
-
Mohammad-Panah R., Gyomorey K., Rommens J., Choudhury M., Li C., Wang Y., and Bear C.E. ClC-2 contributes to native chloride secretion by a human intestinal cell line, Caco-2. J. Biol. Chem. 276 (2001) 8306-8313
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 8306-8313
-
-
Mohammad-Panah, R.1
Gyomorey, K.2
Rommens, J.3
Choudhury, M.4
Li, C.5
Wang, Y.6
Bear, C.E.7
-
89
-
-
33846028228
-
Induction of TRPC6 channel in acquired forms of proteinuric kidney disease
-
Moller C.C., Wei C., Altintas M.M., Li J., Greka A., Ohse T., Pippin J.W., Rastaldi M.P., Wawersik S., Schiavi S., et al. Induction of TRPC6 channel in acquired forms of proteinuric kidney disease. J. Am. Soc. Nephrol 18 (2007) 29-36
-
(2007)
J. Am. Soc. Nephrol
, vol.18
, pp. 29-36
-
-
Moller, C.C.1
Wei, C.2
Altintas, M.M.3
Li, J.4
Greka, A.5
Ohse, T.6
Pippin, J.W.7
Rastaldi, M.P.8
Wawersik, S.9
Schiavi, S.10
-
90
-
-
0029316542
-
CIC-2: A developmentally dependent chloride channel expressed in the fetal lung and downregulated after birth
-
Murray C.B., Morales M.M., Flotte T.R., McGrath-Morrow S.A., Guggino W.B., and Zeitlin P.L. CIC-2: A developmentally dependent chloride channel expressed in the fetal lung and downregulated after birth. Am. J. Respir. Cell Mol. Biol. 12 (1995) 597-604
-
(1995)
Am. J. Respir. Cell Mol. Biol.
, vol.12
, pp. 597-604
-
-
Murray, C.B.1
Morales, M.M.2
Flotte, T.R.3
McGrath-Morrow, S.A.4
Guggino, W.B.5
Zeitlin, P.L.6
-
91
-
-
33748778207
-
Airway surface liquid volume regulates ENaC by altering the serine protease-protease inhibitor balance: A mechanism for sodium hyperabsorption in cystic fibrosis
-
Myerburg M.M., Butterworth M.B., McKenna E.E., Peters K.W., Frizzell R.A., Kleyman T.R., and Pilewski J.M. Airway surface liquid volume regulates ENaC by altering the serine protease-protease inhibitor balance: A mechanism for sodium hyperabsorption in cystic fibrosis. J. Biol. Chem. 281 (2006) 27942-27949
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 27942-27949
-
-
Myerburg, M.M.1
Butterworth, M.B.2
McKenna, E.E.3
Peters, K.W.4
Frizzell, R.A.5
Kleyman, T.R.6
Pilewski, J.M.7
-
92
-
-
0037317302
-
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
-
Nauli S.M., Alenghat F.J., Luo Y., Williams E., Vassilev P., Li X., Elia A.E., Lu W., Brown E.M., Quinn S.J., et al. Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat. Genet. 33 (2003) 129-137
-
(2003)
Nat. Genet.
, vol.33
, pp. 129-137
-
-
Nauli, S.M.1
Alenghat, F.J.2
Luo, Y.3
Williams, E.4
Vassilev, P.5
Li, X.6
Elia, A.E.7
Lu, W.8
Brown, E.M.9
Quinn, S.J.10
-
93
-
-
0031054075
-
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
-
Neyroud N., Tesson F., Denjoy I., Leibovici M., Donger C., Barhanin J., Faure S., Gary F., Coumel P., Petit C., et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 15 (1997) 186-189
-
(1997)
Nat. Genet.
, vol.15
, pp. 186-189
-
-
Neyroud, N.1
Tesson, F.2
Denjoy, I.3
Leibovici, M.4
Donger, C.5
Barhanin, J.6
Faure, S.7
Gary, F.8
Coumel, P.9
Petit, C.10
-
95
-
-
40649112131
-
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness
-
Nozu K., Inagaki T., Fu X.J., Nozu Y., Kaito H., Kanda K., Sekine T., Igarashi T., Nakanishi K., Yoshikawa N., et al. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J. Med. Genet. 45 (2008) 182-186
-
(2008)
J. Med. Genet.
, vol.45
, pp. 182-186
-
-
Nozu, K.1
Inagaki, T.2
Fu, X.J.3
Nozu, Y.4
Kaito, H.5
Kanda, K.6
Sekine, T.7
Igarashi, T.8
Nakanishi, K.9
Yoshikawa, N.10
-
96
-
-
33745507483
-
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement
-
Pangrazio A., Poliani P.L., Megarbane A., Lefranc G., Lanino E., Di Rocco M., Rucci F., Lucchini F., Ravanini M., Facchetti F., et al. Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. J. Bone Miner. Res. 21 (2006) 1098-1105
-
(2006)
J. Bone Miner. Res.
, vol.21
, pp. 1098-1105
-
-
Pangrazio, A.1
Poliani, P.L.2
Megarbane, A.3
Lefranc, G.4
Lanino, E.5
Di Rocco, M.6
Rucci, F.7
Lucchini, F.8
Ravanini, M.9
Facchetti, F.10
-
97
-
-
24644464284
-
Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening
-
Pedemonte N., Lukacs G.L., Du K., Caci E., Zegarra-Moran O., Galietta L.J., and Verkman A.S. Small-molecule correctors of defective DeltaF508-CFTR cellular processing identified by high-throughput screening. J. Clin. Invest. 115 (2005) 2564-2571
-
(2005)
J. Clin. Invest.
, vol.115
, pp. 2564-2571
-
-
Pedemonte, N.1
Lukacs, G.L.2
Du, K.3
Caci, E.4
Zegarra-Moran, O.5
Galietta, L.J.6
Verkman, A.S.7
-
98
-
-
27144515552
-
Basolateral localization of native ClC-2 chloride channels in absorptive intestinal epithelial cells and basolateral sorting encoded by a CBS-2 domain di-leucine motif
-
Pena-Munzenmayer G., Catalan M., Cornejo I., Figueroa C.D., Melvin J.E., Niemeyer M.I., Cid L.P., and Sepulveda F.V. Basolateral localization of native ClC-2 chloride channels in absorptive intestinal epithelial cells and basolateral sorting encoded by a CBS-2 domain di-leucine motif. J. Cell Sci. 118 (2005) 4243-4252
-
(2005)
J. Cell Sci.
, vol.118
, pp. 4243-4252
-
-
Pena-Munzenmayer, G.1
Catalan, M.2
Cornejo, I.3
Figueroa, C.D.4
Melvin, J.E.5
Niemeyer, M.I.6
Cid, L.P.7
Sepulveda, F.V.8
-
99
-
-
0037018850
-
The ion channel polycystin-2 is required for left-right axis determination in mice.
-
Pennekamp P., Karcher C., Fischer A., Schweickert A., Skryabin B., Horst J., Blum M., and Dworniczak B. The ion channel polycystin-2 is required for left-right axis determination in mice. Curr. Biol. 12 (2002) 938-943
-
(2002)
Curr. Biol.
, vol.12
, pp. 938-943
-
-
Pennekamp, P.1
Karcher, C.2
Fischer, A.3
Schweickert, A.4
Skryabin, B.5
Horst, J.6
Blum, M.7
Dworniczak, B.8
-
100
-
-
16244367509
-
Comparison between siblings and twins supports a role for modifier genes in ADPKD
-
Persu A., Duyme M., Pirson Y., Lens X.M., Messiaen T., Breuning M.H., Chauveau D., Levy M., Grunfeld J.P., and Devuyst O. Comparison between siblings and twins supports a role for modifier genes in ADPKD. Kidney Int 66 (2004) 2132-2136
-
(2004)
Kidney Int
, vol.66
, pp. 2132-2136
-
-
Persu, A.1
Duyme, M.2
Pirson, Y.3
Lens, X.M.4
Messiaen, T.5
Breuning, M.H.6
Chauveau, D.7
Levy, M.8
Grunfeld, J.P.9
Devuyst, O.10
-
101
-
-
0027452094
-
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
-
Peters D.J., Spruit L., Saris J.J., Ravine D., Sandkuijl L.A., Fossdal R., Boersma J., van Eijk R., Norby S., Constantinou-Deltas C.D., et al. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat. Genet. 5 (1993) 359-362
-
(1993)
Nat. Genet.
, vol.5
, pp. 359-362
-
-
Peters, D.J.1
Spruit, L.2
Saris, J.J.3
Ravine, D.4
Sandkuijl, L.A.5
Fossdal, R.6
Boersma, J.7
van Eijk, R.8
Norby, S.9
Constantinou-Deltas, C.D.10
-
102
-
-
22944475536
-
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5
-
Picollo A., and Pusch M. Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 436 (2005) 420-423
-
(2005)
Nature
, vol.436
, pp. 420-423
-
-
Picollo, A.1
Pusch, M.2
-
104
-
-
33748779034
-
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
-
Poët M., Kornak U., Schweizer M., Zdebik A.A., Scheel O., Hoelter S., Wurst W., Schmitt A., Fuhrmann J.C., Planells-Cases R., et al. Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc. Natl Acad. Sci. USA 103 (2006) 13854-13859
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 13854-13859
-
-
Poët, M.1
Kornak, U.2
Schweizer, M.3
Zdebik, A.A.4
Scheel, O.5
Hoelter, S.6
Wurst, W.7
Schmitt, A.8
Fuhrmann, J.C.9
Planells-Cases, R.10
-
105
-
-
36749104295
-
Infertility and its management in men with cystic fibrosis: Review of literature and clinical practices in the UK
-
Popli K., and Stewart J. Infertility and its management in men with cystic fibrosis: Review of literature and clinical practices in the UK. Hum. Fertil. (Camb., Engl.) 10 (2007) 217-221
-
(2007)
Hum. Fertil. (Camb., Engl.)
, vol.10
, pp. 217-221
-
-
Popli, K.1
Stewart, J.2
-
106
-
-
0026332210
-
Isolation of the cDNA for erythrocyte integral membrane protein of 28 kilodaltons: Member of an ancient channel family
-
Preston G.M., and Agre P. Isolation of the cDNA for erythrocyte integral membrane protein of 28 kilodaltons: Member of an ancient channel family. Proc. Natl Acad. Sci. USA 88 (1991) 11110-11114
-
(1991)
Proc. Natl Acad. Sci. USA
, vol.88
, pp. 11110-11114
-
-
Preston, G.M.1
Agre, P.2
-
107
-
-
0026503030
-
Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein
-
Preston G.M., Carroll T.P., Guggino W.B., and Agre P. Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein. Science 256 (1992) 385-387
-
(1992)
Science
, vol.256
, pp. 385-387
-
-
Preston, G.M.1
Carroll, T.P.2
Guggino, W.B.3
Agre, P.4
-
108
-
-
0030909957
-
PKD1 interacts with PKD2 through a probable coiled-coil domain
-
Qian F., Germino F.J., Cai Y., Zhang X., Somlo S., and Germino G.G. PKD1 interacts with PKD2 through a probable coiled-coil domain. Nat. Genet. 16 (1997) 179-183
-
(1997)
Nat. Genet.
, vol.16
, pp. 179-183
-
-
Qian, F.1
Germino, F.J.2
Cai, Y.3
Zhang, X.4
Somlo, S.5
Germino, G.G.6
-
109
-
-
0043133391
-
Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells
-
Qian Q., Hunter L.W., Li M., Marin-Padilla M., Prakash Y.S., Somlo S., Harris P.C., Torres V.E., and Sieck G.C. Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells. Hum. Mol. Genet. 12 (2003) 1875-1880
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1875-1880
-
-
Qian, Q.1
Hunter, L.W.2
Li, M.3
Marin-Padilla, M.4
Prakash, Y.S.5
Somlo, S.6
Harris, P.C.7
Torres, V.E.8
Sieck, G.C.9
-
110
-
-
2342632645
-
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis
-
Ramirez A., Faupel J., Goebel I., Stiller A., Beyer S., Stockle C., Hasan C., Bode U., Kornak U., and Kubisch C. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Hum. Mutat 23 (2004) 471-476
-
(2004)
Hum. Mutat
, vol.23
, pp. 471-476
-
-
Ramirez, A.1
Faupel, J.2
Goebel, I.3
Stiller, A.4
Beyer, S.5
Stockle, C.6
Hasan, C.7
Bode, U.8
Kornak, U.9
Kubisch, C.10
-
111
-
-
12144285845
-
Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel
-
Raychowdhury M.K., Gonzalez-Perrett S., Montalbetti N., Timpanaro G.A., Chasan B., Goldmann W.H., Stahl S., Cooney A., Goldin E., and Cantiello H.F. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel. Hum. Mol. Genet. 13 (2004) 617-627
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 617-627
-
-
Raychowdhury, M.K.1
Gonzalez-Perrett, S.2
Montalbetti, N.3
Timpanaro, G.A.4
Chasan, B.5
Goldmann, W.H.6
Stahl, S.7
Cooney, A.8
Goldin, E.9
Cantiello, H.F.10
-
113
-
-
0022410264
-
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16
-
Reeders S.T., Breuning M.H., Davies K.E., Nicholls R.D., Jarman A.P., Higgs D.R., Pearson P.L., and Weatherall D.J. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317 (1985) 542-544
-
(1985)
Nature
, vol.317
, pp. 542-544
-
-
Reeders, S.T.1
Breuning, M.H.2
Davies, K.E.3
Nicholls, R.D.4
Jarman, A.P.5
Higgs, D.R.6
Pearson, P.L.7
Weatherall, D.J.8
-
114
-
-
34248646767
-
Pathophysiology of focal segmental glomerulosclerosis
-
Reidy K., and Kaskel F.J. Pathophysiology of focal segmental glomerulosclerosis. Pediatr. Nephrol. (Berl., Germany) 22 (2007) 350-354
-
(2007)
Pediatr. Nephrol. (Berl., Germany)
, vol.22
, pp. 350-354
-
-
Reidy, K.1
Kaskel, F.J.2
-
115
-
-
0036318596
-
Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome
-
Reinalter S.C., Jeck N., Brochhausen C., Watzer B., Nusing R.M., Seyberth H.W., and Komhoff M. Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int 62 (2002) 253-260
-
(2002)
Kidney Int
, vol.62
, pp. 253-260
-
-
Reinalter, S.C.1
Jeck, N.2
Brochhausen, C.3
Watzer, B.4
Nusing, R.M.5
Seyberth, H.W.6
Komhoff, M.7
-
116
-
-
22844436647
-
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function
-
Reiser J., Polu K.R., Moller C.C., Kenlan P., Altintas M.M., Wei C., Faul C., Herbert S., Villegas I., Avila-Casado C., et al. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat. Genet. 37 (2005) 739-744
-
(2005)
Nat. Genet.
, vol.37
, pp. 739-744
-
-
Reiser, J.1
Polu, K.R.2
Moller, C.C.3
Kenlan, P.4
Altintas, M.M.5
Wei, C.6
Faul, C.7
Herbert, S.8
Villegas, I.9
Avila-Casado, C.10
-
117
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan J.R., Rommens J.M., Kerem B., Alon N., Rozmahel R., Grzelczak Z., Zielenski J., Lok S., Plavsic N., Chou J.L., et al. Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA. Science 245 (1989) 1066-1073
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
Rommens, J.M.2
Kerem, B.3
Alon, N.4
Rozmahel, R.5
Grzelczak, Z.6
Zielenski, J.7
Lok, S.8
Plavsic, N.9
Chou, J.L.10
-
118
-
-
0031900652
-
The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Foundation Consensus Panel
-
Rosenstein B.J., and Cutting G.R. The diagnosis of cystic fibrosis: A consensus statement. Cystic Fibrosis Foundation Consensus Panel. J. Pediatr. 132 (1998) 589-595
-
(1998)
J. Pediatr.
, vol.132
, pp. 589-595
-
-
Rosenstein, B.J.1
Cutting, G.R.2
-
119
-
-
0026744306
-
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
-
Rosenthal W., Seibold A., Antaramian A., Lonergan M., Arthus M.F., Hendy G.N., Birnbaumer M., and Bichet D.G. Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus. Nature 359 (1992) 233-235
-
(1992)
Nature
, vol.359
, pp. 233-235
-
-
Rosenthal, W.1
Seibold, A.2
Antaramian, A.3
Lonergan, M.4
Arthus, M.F.5
Hendy, G.N.6
Birnbaumer, M.7
Bichet, D.G.8
-
120
-
-
0036197218
-
Epithelial sodium channel and the control of sodium balance: Interaction between genetic and environmental factors
-
Rossier B.C., Pradervand S., Schild L., and Hummler E. Epithelial sodium channel and the control of sodium balance: Interaction between genetic and environmental factors. Annu. Rev. Physiol. 64 (2002) 877-897
-
(2002)
Annu. Rev. Physiol.
, vol.64
, pp. 877-897
-
-
Rossier, B.C.1
Pradervand, S.2
Schild, L.3
Hummler, E.4
-
122
-
-
4444292638
-
2+-activated potassium (BK) alpha-subunit but not the BKbeta1-subunit leads to progressive hearing loss
-
2+-activated potassium (BK) alpha-subunit but not the BKbeta1-subunit leads to progressive hearing loss. Proc. Natl Acad. Sci. USA 101 (2004) 12922-12927
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 12922-12927
-
-
Ruttiger, L.1
Sausbier, M.2
Zimmermann, U.3
Winter, H.4
Braig, C.5
Engel, J.6
Knirsch, M.7
Arntz, C.8
Langer, P.9
Hirt, B.10
-
123
-
-
22944479662
-
Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins
-
Scheel O., Zdebik A.A., Lourdel S., and Jentsch T.J. Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature 436 (2005) 424-427
-
(2005)
Nature
, vol.436
, pp. 424-427
-
-
Scheel, O.1
Zdebik, A.A.2
Lourdel, S.3
Jentsch, T.J.4
-
124
-
-
0031017054
-
Identification of amino acid residues in the alpha, beta, and gamma subunits of the epithelial sodium channel (ENaC) involved in amiloride block and ion permeation
-
Schild L., Schneeberger E., Gautschi I., and Firsov D. Identification of amino acid residues in the alpha, beta, and gamma subunits of the epithelial sodium channel (ENaC) involved in amiloride block and ion permeation. J. Gen. Physiol. 109 (1997) 15-26
-
(1997)
J. Gen. Physiol.
, vol.109
, pp. 15-26
-
-
Schild, L.1
Schneeberger, E.2
Gautschi, I.3
Firsov, D.4
-
125
-
-
18544369466
-
Hypomagnesemia with secondary hypocalcaemia is caused by mutations in TRPM6, a new member of the TRPM gene family
-
Schlingmann K.P., Weber S., Peters M., Niemann Nejsum L., Vitzthum H., Klingel K., Kratz M., Haddad E., Ristoff E., Dinour D., et al. Hypomagnesemia with secondary hypocalcaemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat. Genet. 31 (2002) 166-170
-
(2002)
Nat. Genet.
, vol.31
, pp. 166-170
-
-
Schlingmann, K.P.1
Weber, S.2
Peters, M.3
Niemann Nejsum, L.4
Vitzthum, H.5
Klingel, K.6
Kratz, M.7
Haddad, E.8
Ristoff, E.9
Dinour, D.10
-
126
-
-
1642366722
-
Salt wasting and deafness resulting from mutations in two chloride channels
-
Schlingmann K.P., Konrad M., Jeck N., Waldegger P., Reinalter S.C., Holder M., Seyberth H.W., and Waldegger S. Salt wasting and deafness resulting from mutations in two chloride channels. N. Engl. J. Med. 350 (2004) 1314-1319
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 1314-1319
-
-
Schlingmann, K.P.1
Konrad, M.2
Jeck, N.3
Waldegger, P.4
Reinalter, S.C.5
Holder, M.6
Seyberth, H.W.7
Waldegger, S.8
-
127
-
-
0032483011
-
Defective proximal tubular fluid reabsorption in transgenic aquaporin-1 null mice
-
Schnermann J., Chou C.L., Ma T., Traynor T., Knepper M.A., and Verkman A.S. Defective proximal tubular fluid reabsorption in transgenic aquaporin-1 null mice. Proc. Natl Acad. Sci. USA 95 (1998) 9660-9664
-
(1998)
Proc. Natl Acad. Sci. USA
, vol.95
, pp. 9660-9664
-
-
Schnermann, J.1
Chou, C.L.2
Ma, T.3
Traynor, T.4
Knepper, M.A.5
Verkman, A.S.6
-
128
-
-
0034642569
-
A constitutively open potassium channel formed by KCNQ1 and KCNE3
-
Schroeder B.C., Waldegger S., Fehr S., Bleich M., Warth R., Greger R., and Jentsch T.J. A constitutively open potassium channel formed by KCNQ1 and KCNE3. Nature 403 (2000) 196-199
-
(2000)
Nature
, vol.403
, pp. 196-199
-
-
Schroeder, B.C.1
Waldegger, S.2
Fehr, S.3
Bleich, M.4
Warth, R.5
Greger, R.6
Jentsch, T.J.7
-
129
-
-
0031278313
-
KCNE1 mutations cause Jervell and Lange-Nielsen syndrome
-
Schulze-Bahr E., Wang Q., Wedekind H., Haverkamp W., Chen Q., Sun Y., Rubie C., Hordt M., Towbin J.A., Borggrefe M., et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat. Genet 17 (1997) 267-268
-
(1997)
Nat. Genet
, vol.17
, pp. 267-268
-
-
Schulze-Bahr, E.1
Wang, Q.2
Wedekind, H.3
Haverkamp, W.4
Chen, Q.5
Sun, Y.6
Rubie, C.7
Hordt, M.8
Towbin, J.A.9
Borggrefe, M.10
-
130
-
-
0035853854
-
An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease
-
Schwake M., Friedrich T., and Jentsch T.J. An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease. J. Biol. Chem. 276 (2001) 12049-12054
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 12049-12054
-
-
Schwake, M.1
Friedrich, T.2
Jentsch, T.J.3
-
131
-
-
42149120706
-
Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function
-
Serohijos A.W., Hegedus T., Aleksandrov A.A., He L., Cui L., Dokholyan N.V., and Riordan J.R. Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function. Proc. Natl Acad. Sci. USA 105 (2008) 3256-3261
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 3256-3261
-
-
Serohijos, A.W.1
Hegedus, T.2
Aleksandrov, A.A.3
He, L.4
Cui, L.5
Dokholyan, N.V.6
Riordan, J.R.7
-
132
-
-
27944483003
-
+ channel in patients with a cystic fibrosis-like syndrome
-
+ channel in patients with a cystic fibrosis-like syndrome. Hum. Mol. Genet 14 (2005) 3493-3498
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 3493-3498
-
-
Sheridan, M.B.1
Fong, P.2
Groman, J.D.3
Conrad, C.4
Flume, P.5
Diaz, R.6
Harris, C.7
Knowles, M.8
Cutting, G.R.9
-
133
-
-
0030031158
-
Mutations in the founder of the MIP gene family underlie cataract development in the mouse
-
Shiels A., and Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat. Genet. 12 (1996) 212-215
-
(1996)
Nat. Genet.
, vol.12
, pp. 212-215
-
-
Shiels, A.1
Bassnett, S.2
-
134
-
-
0030032699
-
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
-
Simon D.B., Karet F.E., Hamdan J.M., DiPietro A., Sanjad S.A., and Lifton R.P. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat. Genet. 13 (1996) 183-188
-
(1996)
Nat. Genet.
, vol.13
, pp. 183-188
-
-
Simon, D.B.1
Karet, F.E.2
Hamdan, J.M.3
DiPietro, A.4
Sanjad, S.A.5
Lifton, R.P.6
-
135
-
-
0029794875
-
+ channel, ROMK
-
+ channel, ROMK. Nat. Genet. 14 (1996) 152-156
-
(1996)
Nat. Genet.
, vol.14
, pp. 152-156
-
-
Simon, D.B.1
Karet, F.E.2
Rodriguez-Soriano, J.3
Hamdan, J.H.4
DiPietro, A.5
Trachtman, H.6
Sanjad, S.A.7
Lifton, R.P.8
-
136
-
-
9044235777
-
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
-
Simon D.B., Nelson-Williams C., Bia M.J., Ellison D., Karet F.E., Molina A.M., Vaara I., Iwata F., Cushner H.M., Koolen M., et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat. Genet. 12 (1996) 24-30
-
(1996)
Nat. Genet.
, vol.12
, pp. 24-30
-
-
Simon, D.B.1
Nelson-Williams, C.2
Bia, M.J.3
Ellison, D.4
Karet, F.E.5
Molina, A.M.6
Vaara, I.7
Iwata, F.8
Cushner, H.M.9
Koolen, M.10
-
137
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
-
Simon D.B., Bindra R.S., Mansfield T.A., Nelson-Williams C., Mendonca E., Stone R., Schurman S., Nayir A., Alpay H., Bakkaloglu A., et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat. Genet. 17 (1997) 171-178
-
(1997)
Nat. Genet.
, vol.17
, pp. 171-178
-
-
Simon, D.B.1
Bindra, R.S.2
Mansfield, T.A.3
Nelson-Williams, C.4
Mendonca, E.5
Stone, R.6
Schurman, S.7
Nayir, A.8
Alpay, H.9
Bakkaloglu, A.10
-
138
-
-
0033516683
-
2+ resorption
-
2+ resorption. Science 285 (1999) 103-106
-
(1999)
Science
, vol.285
, pp. 103-106
-
-
Simon, D.B.1
Lu, Y.2
Choate, K.A.3
Velazquez, H.4
Al-Sabban, E.5
Praga, M.6
Casari, G.7
Bettinelli, A.8
Colussi, G.9
Rodriguez-Soriano, J.10
-
139
-
-
0025922827
-
Erythrocyte Mr 28,000 transmembrane protein exists as a multisubunit oligomer similar to channel proteins
-
Smith B.L., and Agre P. Erythrocyte Mr 28,000 transmembrane protein exists as a multisubunit oligomer similar to channel proteins. J. Biol. Chem. 266 (1991) 6407-6415
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 6407-6415
-
-
Smith, B.L.1
Agre, P.2
-
140
-
-
33749011145
-
Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation
-
Sohara E., Rai T., Yang S.S., Uchida K., Nitta K., Horita S., Ohno M., Harada A., Sasaki S., and Uchida S. Pathogenesis and treatment of autosomal-dominant nephrogenic diabetes insipidus caused by an aquaporin 2 mutation. Proc. Natl Acad. Sci. USA 103 (2006) 14217-14222
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 14217-14222
-
-
Sohara, E.1
Rai, T.2
Yang, S.S.3
Uchida, K.4
Nitta, K.5
Horita, S.6
Ohno, M.7
Harada, A.8
Sasaki, S.9
Uchida, S.10
-
141
-
-
33646344988
-
TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity
-
Soyombo A.A., Tjon-Kon-Sang S., Rbaibi Y., Bashllari E., Bisceglia J., Muallem S., and Kiselyov K. TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity. J. Biol. Chem. 281 (2006) 7294-7301
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 7294-7301
-
-
Soyombo, A.A.1
Tjon-Kon-Sang, S.2
Rbaibi, Y.3
Bashllari, E.4
Bisceglia, J.5
Muallem, S.6
Kiselyov, K.7
-
142
-
-
23344447713
-
No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36
-
Speirs H.J., Wang W.Y., Benjafield A.V., and Morris B.J. No association with hypertension of CLCNKB and TNFRSF1B polymorphisms at a hypertension locus on chromosome 1p36. J. Hypertens. 23 (2005) 1491-1496
-
(2005)
J. Hypertens.
, vol.23
, pp. 1491-1496
-
-
Speirs, H.J.1
Wang, W.Y.2
Benjafield, A.V.3
Morris, B.J.4
-
145
-
-
0029609597
-
Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease
-
Steinmeyer K., Schwappach B., Bens M., Vandewalle A., and Jentsch T.J. Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease. J. Biol. Chem. 270 (1995) 31172-31177
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 31172-31177
-
-
Steinmeyer, K.1
Schwappach, B.2
Bens, M.3
Vandewalle, A.4
Jentsch, T.J.5
-
146
-
-
17744375755
-
Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus
-
Stobrawa S.M., Breiderhoff T., Takamori S., Engel D., Schweizer M., Zdebik A.A., Bösl M.R., Ruether K., Jahn H., Draguhn A., et al. Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus. Neuron 29 (2001) 185-196
-
(2001)
Neuron
, vol.29
, pp. 185-196
-
-
Stobrawa, S.M.1
Breiderhoff, T.2
Takamori, S.3
Engel, D.4
Schweizer, M.5
Zdebik, A.A.6
Bösl, M.R.7
Ruether, K.8
Jahn, H.9
Draguhn, A.10
-
147
-
-
34247497283
-
Cystic fibrosis: A review of epidemiology and pathobiology
-
Strausbaugh S.D., and Davis P.B. Cystic fibrosis: A review of epidemiology and pathobiology. Clin. Chest Med. 28 (2007) 279-288
-
(2007)
Clin. Chest Med.
, vol.28
, pp. 279-288
-
-
Strausbaugh, S.D.1
Davis, P.B.2
-
148
-
-
0028982894
-
CFTR as a cAMP-dependent regulator of sodium channels
-
Stutts M.J., Canessa C.M., Olsen J.C., Hamrick M., Cohn J.A., Rossier B.C., and Boucher R.C. CFTR as a cAMP-dependent regulator of sodium channels. Science 269 (1995) 847-850
-
(1995)
Science
, vol.269
, pp. 847-850
-
-
Stutts, M.J.1
Canessa, C.M.2
Olsen, J.C.3
Hamrick, M.4
Cohn, J.A.5
Rossier, B.C.6
Boucher, R.C.7
-
149
-
-
0034641869
-
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
-
Sun M., Goldin E., Stahl S., Falardeau J.L., Kennedy J.C., Acierno Jr. J.S., Bove C., Kaneski C.R., Nagle J., Bromley M.C., et al. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum. Mol. Genet. 9 (2000) 2471-2478
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2471-2478
-
-
Sun, M.1
Goldin, E.2
Stahl, S.3
Falardeau, J.L.4
Kennedy, J.C.5
Acierno Jr., J.S.6
Bove, C.7
Kaneski, C.R.8
Nagle, J.9
Bromley, M.C.10
-
150
-
-
31944449588
-
Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers
-
Suzuki T., Rai T., Hayama A., Sohara E., Suda S., Itoh T., Sasaki S., and Uchida S. Intracellular localization of ClC chloride channels and their ability to form hetero-oligomers. J. Cell. Physiol. 206 (2006) 792-798
-
(2006)
J. Cell. Physiol.
, vol.206
, pp. 792-798
-
-
Suzuki, T.1
Rai, T.2
Hayama, A.3
Sohara, E.4
Suda, S.5
Itoh, T.6
Sasaki, S.7
Uchida, S.8
-
151
-
-
33646690747
-
Connexin-associated deafness and speech perception outcome of cochlear implantation
-
Taitelbaum-Swead R., Brownstein Z., Muchnik C., Kishon-Rabin L., Kronenberg J., Megirov L., Frydman M., Hildesheimer M., and Avraham K.B. Connexin-associated deafness and speech perception outcome of cochlear implantation. Arch. Otolaryngol. Head Neck Surg. 132 (2006) 495-500
-
(2006)
Arch. Otolaryngol. Head Neck Surg.
, vol.132
, pp. 495-500
-
-
Taitelbaum-Swead, R.1
Brownstein, Z.2
Muchnik, C.3
Kishon-Rabin, L.4
Kronenberg, J.5
Megirov, L.6
Frydman, M.7
Hildesheimer, M.8
Avraham, K.B.9
-
152
-
-
12244300886
-
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
-
Teubner B., Michel V., Pesch J., Lautermann J., Cohen-Salmon M., Sohl G., Jahnke K., Winterhager E., Herberhold C., Hardelin J.P., et al. Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential. Hum. Mol. Genet. 12 (2003) 13-21
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 13-21
-
-
Teubner, B.1
Michel, V.2
Pesch, J.3
Lautermann, J.4
Cohen-Salmon, M.5
Sohl, G.6
Jahnke, K.7
Winterhager, E.8
Herberhold, C.9
Hardelin, J.P.10
-
153
-
-
1842428593
-
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis
-
Treusch S., Knuth S., Slaugenhaupt S.A., Goldin E., Grant B.D., and Fares H. Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc. Natl Acad. Sci. USA 101 (2004) 4483-4488
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 4483-4488
-
-
Treusch, S.1
Knuth, S.2
Slaugenhaupt, S.A.3
Goldin, E.4
Grant, B.D.5
Fares, H.6
-
154
-
-
9844261701
-
vLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
-
vLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum. Mol. Genet. 6 (1997) 2179-2185
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2179-2185
-
-
Tyson, J.1
Tranebjaerg, L.2
Bellman, S.3
Wren, C.4
Taylor, J.F.5
Bathen, J.6
Aslaksen, B.7
Sorland, S.J.8
Lund, O.9
Malcolm, S.10
-
155
-
-
35348829780
-
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV
-
Venugopal B., Browning M.F., Curcio-Morelli C., Varro A., Michaud N., Nanthakumar N., Walkley S.U., Pickel J., and Slaugenhaupt S.A. Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am. J. Hum. Genet. 81 (2007) 1070-1083
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 1070-1083
-
-
Venugopal, B.1
Browning, M.F.2
Curcio-Morelli, C.3
Varro, A.4
Michaud, N.5
Nanthakumar, N.6
Walkley, S.U.7
Pickel, J.8
Slaugenhaupt, S.A.9
-
156
-
-
0030461289
-
Inner ear defects induced by null mutation of the isk gene
-
Vetter D.E., Mann J.R., Wangemann P., Liu J., McLaughlin K.J., Lesage F., Marcus D.C., Lazdunski M., Heinemann S.F., and Barhanin J. Inner ear defects induced by null mutation of the isk gene. Neuron 17 (1996) 1251-1264
-
(1996)
Neuron
, vol.17
, pp. 1251-1264
-
-
Vetter, D.E.1
Mann, J.R.2
Wangemann, P.3
Liu, J.4
McLaughlin, K.J.5
Lesage, F.6
Marcus, D.C.7
Lazdunski, M.8
Heinemann, S.F.9
Barhanin, J.10
-
157
-
-
1942479149
-
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II
-
Waguespack S.G., Koller D.L., White K.E., Fishburn T., Carn G., Buckwalter K.A., Johnson M., Kocisko M., Evans W.E., Foroud T., and Econs M.J. Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J. Bone Miner. Res. 18 (2003) 1513-1518
-
(2003)
J. Bone Miner. Res.
, vol.18
, pp. 1513-1518
-
-
Waguespack, S.G.1
Koller, D.L.2
White, K.E.3
Fishburn, T.4
Carn, G.5
Buckwalter, K.A.6
Johnson, M.7
Kocisko, M.8
Evans, W.E.9
Foroud, T.10
Econs, M.J.11
-
158
-
-
0036592004
-
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcaemia
-
Walder R.Y., Landau D., Meyer P., Shalev H., Tsolia M., Borochowitz Z., Boettger M.B., Beck G.E., Englehardt R.K., Carmi R., and Sheffield V.C. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcaemia. Nat. Genet. 31 (2002) 171-174
-
(2002)
Nat. Genet.
, vol.31
, pp. 171-174
-
-
Walder, R.Y.1
Landau, D.2
Meyer, P.3
Shalev, H.4
Tsolia, M.5
Borochowitz, Z.6
Boettger, M.B.7
Beck, G.E.8
Englehardt, R.K.9
Carmi, R.10
Sheffield, V.C.11
-
159
-
-
0034642297
-
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis
-
Wang S.S., Devuyst O., Courtoy P.J., Wang X.T., Wang H., Wang Y., Thakker R.V., Guggino S., and Guggino W.B. Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum. Mol. Genet. 9 (2000) 2937-2945
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2937-2945
-
-
Wang, S.S.1
Devuyst, O.2
Courtoy, P.J.3
Wang, X.T.4
Wang, H.5
Wang, Y.6
Thakker, R.V.7
Guggino, S.8
Guggino, W.B.9
-
160
-
-
0032132758
-
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease
-
Watnick T.J., Torres V.E., Gandolph M.A., Qian F., Onuchic L.F., Klinger K.W., Landes G., and Germino G.G. Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol. Cell. 2 (1998) 247-251
-
(1998)
Mol. Cell.
, vol.2
, pp. 247-251
-
-
Watnick, T.J.1
Torres, V.E.2
Gandolph, M.A.3
Qian, F.4
Onuchic, L.F.5
Klinger, K.W.6
Landes, G.7
Germino, G.G.8
-
161
-
-
34249084477
-
Classical transient receptor potential channel 6 (TRPC6) is essential for hypoxic pulmonary vasoconstriction and alveolar gas exchange
-
Weissmann N., Dietrich A., Fuchs B., Kalwa H., Ay M., Dumitrascu R., Olschewski A., Storch U., Mederos y Schnitzler M., Ghofrani H.A., et al. Classical transient receptor potential channel 6 (TRPC6) is essential for hypoxic pulmonary vasoconstriction and alveolar gas exchange. Proc. Natl Acad. Sci. USA 103 (2006) 19093-19098
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 19093-19098
-
-
Weissmann, N.1
Dietrich, A.2
Fuchs, B.3
Kalwa, H.4
Ay, M.5
Dumitrascu, R.6
Olschewski, A.7
Storch, U.8
Mederos y Schnitzler, M.9
Ghofrani, H.A.10
-
162
-
-
0141863491
-
Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
-
Wilschanski M., Yahav Y., Yaacov Y., Blau H., Bentur L., Rivlin J., Aviram M., Bdolah-Abram T., Bebok Z., Shushi L., et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N. Engl. J. Med. 349 (2003) 1433-1441
-
(2003)
N. Engl. J. Med.
, vol.349
, pp. 1433-1441
-
-
Wilschanski, M.1
Yahav, Y.2
Yaacov, Y.3
Blau, H.4
Bentur, L.5
Rivlin, J.6
Aviram, M.7
Bdolah-Abram, T.8
Bebok, Z.9
Shushi, L.10
-
163
-
-
20844461826
-
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis
-
Winn M.P., Conlon P.J., Lynn K.L., Farrington M.K., Creazzo T., Hawkins A.F., Daskalakis N., Kwan S.Y., Ebersviller S., Burchette J.L., et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308 (2005) 1801-1804
-
(2005)
Science
, vol.308
, pp. 1801-1804
-
-
Winn, M.P.1
Conlon, P.J.2
Lynn, K.L.3
Farrington, M.K.4
Creazzo, T.5
Hawkins, A.F.6
Daskalakis, N.7
Kwan, S.Y.8
Ebersviller, S.9
Burchette, J.L.10
-
164
-
-
0028038212
-
Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance
-
Wrong O.M., Norden A.G., and Feest T.G. Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Q. J. Med. 87 (1994) 473-493
-
(1994)
Q. J. Med.
, vol.87
, pp. 473-493
-
-
Wrong, O.M.1
Norden, A.G.2
Feest, T.G.3
-
165
-
-
0035998271
-
CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis
-
Yoshikawa M., Uchida S., Ezaki J., Rai T., Hayama A., Kobayashi K., Kida Y., Noda M., Koike M., Uchiyama Y., et al. CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis. Genes Cells 7 (2002) 597-605
-
(2002)
Genes Cells
, vol.7
, pp. 597-605
-
-
Yoshikawa, M.1
Uchida, S.2
Ezaki, J.3
Rai, T.4
Hayama, A.5
Kobayashi, K.6
Kida, Y.7
Noda, M.8
Koike, M.9
Uchiyama, Y.10
-
166
-
-
4644290321
-
Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension
-
Yu Y., Fantozzi I., Remillard C.V., Landsberg J.W., Kunichika N., Platoshyn O., Tigno D.D., Thistlethwaite P.A., Rubin L.J., and Yuan J.X. Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension. Proc. Natl Acad. Sci. USA 101 (2004) 13861-13866
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 13861-13866
-
-
Yu, Y.1
Fantozzi, I.2
Remillard, C.V.3
Landsberg, J.W.4
Kunichika, N.5
Platoshyn, O.6
Tigno, D.D.7
Thistlethwaite, P.A.8
Rubin, L.J.9
Yuan, J.X.10
-
167
-
-
2542466643
-
Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models
-
Zdebik A.A., Cuffe J.E., Bertog M., Korbmacher C., and Jentsch T.J. Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models. J. Biol. Chem. 279 (2004) 22276-22283
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 22276-22283
-
-
Zdebik, A.A.1
Cuffe, J.E.2
Bertog, M.3
Korbmacher, C.4
Jentsch, T.J.5
|