-
1
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem BS, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-1080.
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.S.1
Rommens, J.M.2
Buchanan, J.A.3
Markiewicz, D.4
Cox, T.K.5
Chakravarti, A.6
Buchwald, M.7
Tsui, L.C.8
-
2
-
-
0344091562
-
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
-
Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Neils A. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003;33:527-532.
-
(2003)
Nat Genet
, vol.33
, pp. 527-532
-
-
Haug, K.1
Warnstedt, M.2
Alekov, A.K.3
Sander, T.4
Ramirez, A.5
Poser, B.6
Maljevic, S.7
Hebeisen, S.8
Kubisch, C.9
Rebstock, J.10
Horvath, S.11
Hallmann, K.12
Dullinger, J.S.13
Rau, B.14
Haverkamp, F.15
Beyenburg, S.16
Schulz, H.17
Janz, D.18
Giese, B.19
Muller-Newen, G.20
Propping, P.21
Elger, C.E.22
Fahlke, C.23
Lerche, H.24
Neils, A.25
more..
-
4
-
-
0034235977
-
Anatomic genomics: Systems of genes supporting the biology of systems
-
Pollard HB. Anatomic genomics: systems of genes supporting the biology of systems. Anat Rec 2000;259:1003-1009.
-
(2000)
Anat Rec
, vol.259
, pp. 1003-1009
-
-
Pollard, H.B.1
-
5
-
-
0037727678
-
Metabolic pathways in the post-genome era
-
Papin JA, Price ND, Wiback SJ, Fell DA, Palsson BO. Metabolic pathways in the post-genome era. Trends Biochem Sci 2003;28: 250-258.
-
(2003)
Trends Biochem Sci
, vol.28
, pp. 250-258
-
-
Papin, J.A.1
Price, N.D.2
Wiback, S.J.3
Fell, D.A.4
Palsson, B.O.5
-
6
-
-
0032432673
-
Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: Disorders of protein trafficking and the role of ER molecular chaperones
-
Kim PS, Arvan P. Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: disorders of protein trafficking and the role of ER molecular chaperones. Endocr Rev 1998;19: 173-202.
-
(1998)
Endocr Rev
, vol.19
, pp. 173-202
-
-
Kim, P.S.1
Arvan, P.2
-
7
-
-
0742289581
-
Sorting ourselves out: Seeking consensus on trafficking in the beta-cell
-
Arven P, Halban PA. Sorting ourselves out: seeking consensus on trafficking in the beta-cell. Traffic 2004;5:53-61.
-
(2004)
Traffic
, vol.5
, pp. 53-61
-
-
Arven, P.1
Halban, P.A.2
-
8
-
-
0034117174
-
Yet another function for the cystic fibrosis transmembrane conductance regular
-
Widdicombe JH. Yet another function for the cystic fibrosis transmembrane conductance regular. Am J Respir Cell Mol Biol 2000;22:11-14.
-
(2000)
Am J Respir Cell Mol Biol
, vol.22
, pp. 11-14
-
-
Widdicombe, J.H.1
-
9
-
-
2642585011
-
Molecular assembly of the cystic fibrosis transmembrane conductance regulator in plasma membrane
-
Li C, Roy K, Dandridge K, Naren AP. Molecular assembly of the cystic fibrosis transmembrane conductance regulator in plasma membrane. J Biol Chem 2004;279:24673-24684.
-
(2004)
J Biol Chem
, vol.279
, pp. 24673-24684
-
-
Li, C.1
Roy, K.2
Dandridge, K.3
Naren, A.P.4
-
10
-
-
10744223051
-
Association of cystic fibrosis with abnormalities in fatty acid metabolism
-
Freedman SD, Blanco PG, Zaman MM, Shea JC, Ollero M, Hopper IK, Weed DA, Gelrud A, Regan MM, Laposata M, Alvarez JG, O'Sullivan BP. Association of cystic fibrosis with abnormalities in fatty acid metabolism. N Engl J Med 2004;350: 560-569.
-
(2004)
N Engl J Med
, vol.350
, pp. 560-569
-
-
Freedman, S.D.1
Blanco, P.G.2
Zaman, M.M.3
Shea, J.C.4
Ollero, M.5
Hopper, I.K.6
Weed, D.A.7
Gelrud, A.8
Regan, M.M.9
Laposata, M.10
Alvarez, J.G.11
O'Sullivan, B.P.12
-
11
-
-
2342656361
-
Bicarbonate secretion: It takes two to tango
-
Gray MA. Bicarbonate secretion: it takes two to tango. Nat Cell Biol 2004;6:292-294.
-
(2004)
Nat Cell Biol
, vol.6
, pp. 292-294
-
-
Gray, M.A.1
-
13
-
-
0028982894
-
CFTR as a cAMP-dependent regulator of sodium channels
-
Stutts MJ, Canessa CM, Olsen JC, Hamrick M, Cohn JA, Rossier BC, Boucher RC. CFTR as a cAMP-dependent regulator of sodium channels. Science 1995;269:857-850.
-
(1995)
Science
, vol.269
, pp. 857-1850
-
-
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
-
16
-
-
0027483610
-
The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR
-
Li C, Ramjeesingh M, Reyes E, Jensen T, Chang X, Rommens JM, Bear CE. The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR. Nat Genet 1993; 3:311-316.
-
(1993)
Nat Genet
, vol.3
, pp. 311-316
-
-
Li, C.1
Ramjeesingh, M.2
Reyes, E.3
Jensen, T.4
Chang, X.5
Rommens, J.M.6
Bear, C.E.7
-
17
-
-
0842324677
-
Altered channel gating mechanism for CFTR inhibition by a high-affinity thiazolidinone blocker
-
Taddei A, Folli C, Zegarra-Moran O, Fanen P, Verkman AS, Galietta LJV. Altered channel gating mechanism for CFTR inhibition by a high-affinity thiazolidinone blocker. FEBS Lett 2004;558:52-56.
-
(2004)
FEBS Lett
, vol.558
, pp. 52-56
-
-
Taddei, A.1
Folli, C.2
Zegarra-Moran, O.3
Fanen, P.4
Verkman, A.S.5
Galietta, L.J.V.6
-
18
-
-
1442325340
-
Cytokine secretion by cystic fibrosis airway cells
-
Becker MN, Sauer MS, Mulebach MS, Hirsch AJ, Wu Q, Verghese MW, Randell SH. Cytokine secretion by cystic fibrosis airway cells. Am J Respir Crit Care Med 2004;169:645-653.
-
(2004)
Am J Respir Crit Care Med
, vol.169
, pp. 645-653
-
-
Becker, M.N.1
Sauer, M.S.2
Mulebach, M.S.3
Hirsch, A.J.4
Wu, Q.5
Verghese, M.W.6
Randell, S.H.7
-
20
-
-
0028914085
-
Early pulmonary inflammation in infants with CF
-
Khan TZ, Wagener JS, Bost T, Martinez J, Accurso F, Riches DWH. Early pulmonary inflammation in infants with CF. Am J Respir Crit Care Med 1995;151:1075-1082.
-
(1995)
Am J Respir Crit Care Med
, vol.151
, pp. 1075-1082
-
-
Khan, T.Z.1
Wagener, J.S.2
Bost, T.3
Martinez, J.4
Accurso, F.5
Dwh, R.6
-
22
-
-
0028130394
-
Cystic fibrosis and phosphatidylcholine biosynthesis
-
Ulane MM, Buttler JD, Peri A, Miele L, Ulane RE, Hubbard V. Cystic fibrosis and phosphatidylcholine biosynthesis. Clin Chim Acta 1994;230:109-116.
-
(1994)
Clin Chim Acta
, vol.230
, pp. 109-116
-
-
Ulane, M.M.1
Buttler, J.D.2
Peri, A.3
Miele, L.4
Ulane, R.E.5
Hubbard, V.6
-
23
-
-
0037043663
-
Variant cystic fibrosis phenotypes in the absence of CFTR mutations
-
Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med 2002;347:401-407.
-
(2002)
N Engl J Med
, vol.347
, pp. 401-407
-
-
Groman, J.D.1
Meyer, M.E.2
Wilmott, R.W.3
Zeitlin, P.L.4
Cutting, G.R.5
|