-
1
-
-
0037034267
-
Community-acquired pneumonia in children
-
McIntosh K: Community-acquired pneumonia in children. N Engl J Med 2002; 346:429-437
-
(2002)
N Engl J Med
, vol.346
, pp. 429-437
-
-
McIntosh, K.1
-
2
-
-
77955505927
-
National hospitalization trends for pediatric pneumonia and associated complications
-
Lee GE, Lorch SA, Sheffler-Collins S, et al: National hospitalization trends for pediatric pneumonia and associated complications. Pediatrics 2010; 126:204-213
-
(2010)
Pediatrics
, vol.126
, pp. 204-213
-
-
Lee, G.E.1
Lorch, S.A.2
Sheffler-Collins, S.3
-
3
-
-
0034604129
-
The acute respiratory distress syndrome
-
Ware LB, Matthay MA: The acute respiratory distress syndrome. N Engl J Med 2000; 342:1334-1349
-
(2000)
N Engl J Med
, vol.342
, pp. 1334-1349
-
-
Ware, L.B.1
Matthay, M.A.2
-
4
-
-
0036941270
-
Alveolar fluid clearance in patients with ARDS: Does it make a difference?
-
Matthay MA: Alveolar fluid clearance in patients with ARDS: Does it make a difference? Chest 2002; 122:340S-343S
-
(2002)
Chest
, vol.122
-
-
Matthay, M.A.1
-
5
-
-
27144435896
-
Alveolar epithelium: Role in lung fluid balance and acute lung injury
-
Matthay MA, Robriquet L, Fang X: Alveolar epithelium: Role in lung fluid balance and acute lung injury. Proc Am Thorac Soc 2005; 2:206-213
-
(2005)
Proc Am Thorac Soc
, vol.2
, pp. 206-213
-
-
Matthay, M.A.1
Robriquet, L.2
Fang, X.3
-
6
-
-
0036097028
-
Novel role for CFTR in fluid absorption from the distal airspaces of the lung
-
Fang X, Fukuda N, Barbry P, et al: Novel role for CFTR in fluid absorption from the distal airspaces of the lung. J Gen Physiol 2002; 119:199-207
-
(2002)
J Gen Physiol
, vol.119
, pp. 199-207
-
-
Fang, X.1
Fukuda, N.2
Barbry, P.3
-
7
-
-
33644843863
-
Contribution of CFTR to apical-basolateral fluid transport in cultured human alveolar epithelial type II cells
-
Fang X, Song Y, Hirsch J, et al: Contribution of CFTR to apical-basolateral fluid transport in cultured human alveolar epithelial type II cells. Am J Physiol Lung Cell Mol Physiol 2006; 290:L242-L249
-
(2006)
Am J Physiol Lung Cell Mol Physiol
, vol.290
-
-
Fang, X.1
Song, Y.2
Hirsch, J.3
-
8
-
-
38749089016
-
Expression of cystic fibrosis transmembrane conductance regulator in the human distal lung
-
Regnier A, Dannhoffer L, Blouquit-Laye S, et al: Expression of cystic fibrosis transmembrane conductance regulator in the human distal lung. Hum Pathol 2008; 39:368-376
-
(2008)
Hum Pathol
, vol.39
, pp. 368-376
-
-
Regnier, A.1
Dannhoffer, L.2
Blouquit-Laye, S.3
-
9
-
-
0035065745
-
Nonspecific activation of the epithelial sodium channel by the CFTR chloride channel
-
Nagel G, Szellas T, Riordan JR, et al: Nonspecific activation of the epithelial sodium channel by the CFTR chloride channel. EMBO Rep 2001; 2:249-254
-
(2001)
EMBO Rep
, vol.2
, pp. 249-254
-
-
Nagel, G.1
Szellas, T.2
Riordan, J.R.3
-
10
-
-
0033581885
-
Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl-channel function
-
Reddy MM, Light MJ, Quinton PM: Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl-channel function. Nature 1999; 402:301-304
-
(1999)
Nature
, vol.402
, pp. 301-304
-
-
Reddy, M.M.1
Light, M.J.2
Quinton, P.M.3
-
11
-
-
0026582066
-
Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembraneconductance regulator mRNA transcripts in human epithelia
-
Bremer S, Hoof T, Wilke M, et al: Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembraneconductance regulator mRNA transcripts in human epithelia. Eur J Biochem 1992; 206:137-149
-
(1992)
Eur J Biochem
, vol.206
, pp. 137-149
-
-
Bremer, S.1
Hoof, T.2
Wilke, M.3
-
12
-
-
33645130994
-
Cystic fibrosis since
-
Davis PB: Cystic fibrosis since 1938. Am J Respir Crit Care Med 2006; 173:475-482
-
(1938)
Am J Respir Crit Care Med
, vol.173
, pp. 475-482
-
-
Davis, P.B.1
-
13
-
-
77955382245
-
Expression of wild-type CFTR suppresses NF-kappaB-driven inflammatory signalling
-
Hunter MJ, Treharne KJ, Winter AK, et al: Expression of wild-type CFTR suppresses NF-kappaB-driven inflammatory signalling. PLoS One 2010; 5:e11598
-
(2010)
PLoS One
, vol.5
-
-
Hunter, M.J.1
Treharne, K.J.2
Winter, A.K.3
-
14
-
-
0033844485
-
Inflammation and infection in naive human cystic fibrosis airway grafts
-
Tirouvanziam R, de Bentzmann S, Hubeau C, et al: Inflammation and infection in naive human cystic fibrosis airway grafts. Am J Respir Cell Mol Biol 2000; 23:121-127
-
(2000)
Am J Respir Cell Mol Biol
, vol.23
, pp. 121-127
-
-
Tirouvanziam, R.1
De Bentzmann, S.2
Hubeau, C.3
-
15
-
-
70349759567
-
Dysfunctional cystic fibrosis transmembrane conductance regulator inhibits phagocytosis of apoptotic cells with proinflammatory consequences
-
Vandivier RW, Richens TR, Horstmann SA, et al: Dysfunctional cystic fibrosis transmembrane conductance regulator inhibits phagocytosis of apoptotic cells with proinflammatory consequences. Am J Physiol Lung Cell Mol Physiol 2009; 297:L677-L686
-
(2009)
Am J Physiol Lung Cell Mol Physiol
, vol.297
-
-
Vandivier, R.W.1
Richens, T.R.2
Horstmann, S.A.3
-
16
-
-
84864288310
-
CFTR is a negative regulator of NFkappaB mediated innate immune response
-
Vij N, Mazur S, Zeitlin PL: CFTR is a negative regulator of NFkappaB mediated innate immune response. PLoS One 2009; 4:e4664
-
(2009)
PLoS One
, vol.4
-
-
Vij, N.1
Mazur, S.2
Zeitlin, P.L.3
-
17
-
-
0034816052
-
Activation of NF-kappaB in airway epithelial cells is dependent on CFTR trafficking and Clchannel function
-
Weber AJ, Soong G, Bryan R, et al: Activation of NF-kappaB in airway epithelial cells is dependent on CFTR trafficking and Clchannel function. Am J Physiol Lung Cell Mol Physiol 2001; 281:L71-L78
-
(2001)
Am J Physiol Lung Cell Mol Physiol
, vol.281
-
-
Weber, A.J.1
Soong, G.2
Bryan, R.3
-
18
-
-
80051554943
-
Lack of cystic fibrosis transmembrane conductance regulator in CD3+ lymphocytes leads to aberrant cytokine secretion and hyperinflammatory adaptive immune responses
-
Mueller C, Braag SA, Keeler A, et al: Lack of cystic fibrosis transmembrane conductance regulator in CD3+ lymphocytes leads to aberrant cytokine secretion and hyperinflammatory adaptive immune responses. Am J Respir Cell Mol Biol 2011; 44:922-929
-
(2011)
Am J Respir Cell Mol Biol
, vol.44
, pp. 922-929
-
-
Mueller, C.1
Braag, S.A.2
Keeler, A.3
-
19
-
-
80051663317
-
Role of CFTR expressed by neutrophils in modulating acute lung inflammation and injury in mice
-
Su X, Looney MR, Su HE, et al: Role of CFTR expressed by neutrophils in modulating acute lung inflammation and injury in mice. Inflamm Res 2011; 60:619-632
-
(2011)
Inflamm Res
, vol.60
, pp. 619-632
-
-
Su, X.1
Looney, M.R.2
Su, H.E.3
-
20
-
-
0027310434
-
Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMPactivated chloride conductance
-
Strong TV, Wilkinson DJ, Mansoura MK, et al: Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMPactivated chloride conductance. Hum Mol Genet 1993; 2:225-230
-
(1993)
Hum Mol Genet
, vol.2
, pp. 225-230
-
-
Strong, T.V.1
Wilkinson, D.J.2
Mansoura, M.K.3
-
21
-
-
38349050413
-
Solubilizing mutations used to crystallize one CFTR domain attenuate the trafficking and channel defects caused by the major cystic fibrosis mutation
-
Pissarra LS, Farinha CM, Xu Z, et al: Solubilizing mutations used to crystallize one CFTR domain attenuate the trafficking and channel defects caused by the major cystic fibrosis mutation. Chem Biol 2008; 15:62-69
-
(2008)
Chem Biol
, vol.15
, pp. 62-69
-
-
Pissarra, L.S.1
Farinha, C.M.2
Xu, Z.3
-
22
-
-
0027502580
-
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
-
Chu CS, Trapnell BC, Curristin S, et al: Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993; 3:151-156
-
(1993)
Nat Genet
, vol.3
, pp. 151-156
-
-
Chu, C.S.1
Trapnell, B.C.2
Curristin, S.3
-
23
-
-
0025906695
-
Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium
-
Chu CS, Trapnell BC, Murtagh JJ Jr, et al: Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J 1991; 10:1355-1363
-
(1991)
EMBO J
, vol.10
, pp. 1355-1363
-
-
Chu, C.S.1
Trapnell, B.C.2
Murtagh Jr., J.J.3
-
24
-
-
0032518518
-
Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation
-
Cuppens H, Lin W, Jaspers M, et al: Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest 1998; 101:487-496
-
(1998)
J Clin Invest
, vol.101
, pp. 487-496
-
-
Cuppens, H.1
Lin, W.2
Jaspers, M.3
-
25
-
-
0038712558
-
Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9
-
Pagani F, Buratti E, Stuani C, et al: Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J Biol Chem 2003; 278:26580-26588
-
(2003)
J Biol Chem
, vol.278
, pp. 26580-26588
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
-
26
-
-
0032756818
-
Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9
-
Niksic M, Romano M, Buratti E, et al: Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 1999; 8:2339-2349
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2339-2349
-
-
Niksic, M.1
Romano, M.2
Buratti, E.3
-
27
-
-
0035965309
-
Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9
-
Buratti E, Baralle FE: Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9. J Biol Chem 2001; 276:36337-36343
-
(2001)
J Biol Chem
, vol.276
, pp. 36337-36343
-
-
Buratti, E.1
Baralle, F.E.2
-
28
-
-
78449267114
-
CELF proteins regulate CFTR premRNA splicing: Essential role of the divergent domain of ETR-3
-
Dujardin G, Buratti E, Charlet-Berguerand N, et al: CELF proteins regulate CFTR premRNA splicing: Essential role of the divergent domain of ETR-3. Nucleic Acids Res 2010; 38:7273-7285
-
(2010)
Nucleic Acids Res
, vol.38
, pp. 7273-7285
-
-
Dujardin, G.1
Buratti, E.2
Charlet-Berguerand, N.3
-
29
-
-
0027249601
-
Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels
-
Delaney SJ, Rich DP, Thomson SA, et al: Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nat Genet 1993; 4:426-431
-
(1993)
Nat Genet
, vol.4
, pp. 426-431
-
-
Delaney, S.J.1
Rich, D.P.2
Thomson, S.A.3
-
30
-
-
0025912486
-
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2
-
Gregory RJ, Rich DP, Cheng SH, et al: Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Mol Cell Biol 1991; 11:3886-3893
-
(1991)
Mol Cell Biol
, vol.11
, pp. 3886-3893
-
-
Gregory, R.J.1
Rich, D.P.2
Cheng, S.H.3
-
31
-
-
0026656343
-
Extensive posttranscriptional deletion of the coding sequences for part of nucleotidebinding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis
-
Chu CS, Trapnell BC, Curristin SM, et al: Extensive posttranscriptional deletion of the coding sequences for part of nucleotidebinding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J Clin Invest 1992; 90:785-790
-
(1992)
J Clin Invest
, vol.90
, pp. 785-790
-
-
Chu, C.S.1
Trapnell, B.C.2
Curristin, S.M.3
-
32
-
-
0031812374
-
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD
-
de Meeus A, Guittard C, Desgeorges M, et al: Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. J Med Genet 1998; 35:594-596
-
(1998)
J Med Genet
, vol.35
, pp. 594-596
-
-
De Meeus, A.1
Guittard, C.2
Desgeorges, M.3
-
33
-
-
34447324095
-
Pulmonary Mycobacterium avium complex infection associated with the IVS8-T5 allele of the CFTR gene
-
Mai HN, Hijikata M, Inoue Y, et al: Pulmonary Mycobacterium avium complex infection associated with the IVS8-T5 allele of the CFTR gene. Int J Tuberc Lung Dis 2007; 11:808-813
-
(2007)
Int J Tuberc Lung Dis
, vol.11
, pp. 808-813
-
-
Mai, H.N.1
Hijikata, M.2
Inoue, Y.3
-
34
-
-
0028267785
-
The American-European Consensus Conference on ARDS. Definitions, mechanisms, relevant outcomes, and clinical trial coordination
-
Bernard GR, Artigas A, Brigham KL, et al: The American-European Consensus Conference on ARDS. Definitions, mechanisms, relevant outcomes, and clinical trial coordination. Am J Respir Crit Care Med 1994; 149(3 Pt 1): 818-824
-
(1994)
Am J Respir Crit Care Med
, vol.149
, Issue.3 PART 1
, pp. 818-824
-
-
Bernard, G.R.1
Artigas, A.2
Brigham, K.L.3
-
35
-
-
79955479258
-
The influence of genetic variation in surfactant protein B on severe lung injury in African American children
-
Dahmer MK, O'Cain P, Patwari PP, et al: The influence of genetic variation in surfactant protein B on severe lung injury in African American children. Crit Care Med 2011; 39:1138-1144
-
(2011)
Crit Care Med
, vol.39
, pp. 1138-1144
-
-
Dahmer, M.K.1
O'Cain, P.2
Patwari, P.P.3
-
36
-
-
60549089830
-
Interleukin-1 receptor antagonist intron 2 variable number of tandem repeats polymorphism and respiratory failure in children with community-acquired pneumonia
-
Patwari PP, O'Cain P, Goodman DM, et al: Interleukin-1 receptor antagonist intron 2 variable number of tandem repeats polymorphism and respiratory failure in children with community-acquired pneumonia. Pediatr Crit Care Med 2008; 9:553-559
-
(2008)
Pediatr Crit Care Med
, vol.9
, pp. 553-559
-
-
Patwari, P.P.1
O'Cain, P.2
Goodman, D.M.3
-
37
-
-
77953346923
-
Genetic variation in MYLK and lung injury in children and adults with communityacquired pneumonia
-
Russell R, Quasney MW, Halligan N, et al: Genetic variation in MYLK and lung injury in children and adults with communityacquired pneumonia. Pediatr Crit Care Med 2010; 11:731-736
-
(2010)
Pediatr Crit Care Med
, vol.11
, pp. 731-736
-
-
Russell, R.1
Quasney, M.W.2
Halligan, N.3
-
38
-
-
26444586246
-
Haplotype diversity in 11 candidate genes across four populations
-
Beaty TH, Fallin MD, Hetmanski JB, et al: Haplotype diversity in 11 candidate genes across four populations. Genetics 2005; 171:259-267
-
(2005)
Genetics
, vol.171
, pp. 259-267
-
-
Beaty, T.H.1
Fallin, M.D.2
Hetmanski, J.B.3
-
39
-
-
0033926130
-
Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations
-
Goddard KA, Hopkins PJ, Hall JM, et al: Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations. Am J Hum Genet 2000; 66:216-234
-
(2000)
Am J Hum Genet
, vol.66
, pp. 216-234
-
-
Goddard, K.A.1
Hopkins, P.J.2
Hall, J.M.3
-
40
-
-
33748804424
-
A tutorial on statistical methods for population association studies
-
Balding DJ: A tutorial on statistical methods for population association studies. Nat Rev Genet 2006; 7:781-791
-
(2006)
Nat Rev Genet
, vol.7
, pp. 781-791
-
-
Balding, D.J.1
-
41
-
-
0037080655
-
Sample size requirements for matched case-control studies of geneenvironment interaction
-
Gauderman WJ: Sample size requirements for matched case-control studies of geneenvironment interaction. Stat Med 2002; 21:35-50
-
(2002)
Stat Med
, vol.21
, pp. 35-50
-
-
Gauderman, W.J.1
-
43
-
-
0029025333
-
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
-
Chill? M, Casals T, Mercier B, et al: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332:1475-1480
-
(1995)
N Engl J Med
, vol.332
, pp. 1475-1480
-
-
Chill, M.1
Casals, T.2
Mercier, B.3
-
44
-
-
0242691208
-
A comparison of Bayesian methods for haplotype reconstruction from population genotype data
-
Stephens M, Donnelly P: A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003; 73:1162-1169
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1162-1169
-
-
Stephens, M.1
Donnelly, P.2
-
45
-
-
0035071957
-
A new statistical method for haplotype reconstruction from population data
-
Stephens M, Smith NJ, Donnelly P: A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68:978-989
-
(2001)
Am J Hum Genet
, vol.68
, pp. 978-989
-
-
Stephens, M.1
Smith, N.J.2
Donnelly, P.3
-
46
-
-
56049123654
-
Correlationbased inference for linkage disequilibrium with multiple alleles
-
Zaykin DV, Pudovkin A, Weir BS: Correlationbased inference for linkage disequilibrium with multiple alleles. Genetics 2008; 180:533-545
-
(2008)
Genetics
, vol.180
, pp. 533-545
-
-
Zaykin, D.V.1
Pudovkin, A.2
Weir, B.S.3
-
47
-
-
77952320646
-
-
Accessed April 1, 2009
-
SeattleSNPs. Available at: http://pga. gs.washington.edu/. Accessed April 1, 2009
-
SeattleSNPs.
-
-
-
48
-
-
9144235448
-
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
-
Groman JD, Hefferon TW, Casals T, et al: Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004; 74:176-179
-
(2004)
Am J Hum Genet
, vol.74
, pp. 176-179
-
-
Groman, J.D.1
Hefferon, T.W.2
Casals, T.3
-
49
-
-
0027521663
-
A mutation in CFTR produces different phenotypes depending on chromosomal background
-
Kiesewetter S, Macek M Jr, Davis C, et al: A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993; 5:274-278
-
(1993)
Nat Genet
, vol.5
, pp. 274-278
-
-
Kiesewetter, S.1
Macek Jr., M.2
Davis, C.3
-
50
-
-
0035983216
-
Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping
-
Hefferon TW, Broackes-Carter FC, Harris A, et al: Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. Am J Hum Genet 2002; 71:294-303
-
(2002)
Am J Hum Genet
, vol.71
, pp. 294-303
-
-
Hefferon, T.W.1
Broackes-Carter, F.C.2
Harris, A.3
-
51
-
-
0034647916
-
Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
-
Pagani F, Buratti E, Stuani C, et al: Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 2000; 275:21041-21047
-
(2000)
J Biol Chem
, vol.275
, pp. 21041-21047
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
-
52
-
-
2342443734
-
An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing
-
Zuccato E, Buratti E, Stuani C, et al: An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem 2004; 279:16980-16988
-
(2004)
J Biol Chem
, vol.279
, pp. 16980-16988
-
-
Zuccato, E.1
Buratti, E.2
Stuani, C.3
-
53
-
-
32344435621
-
TDP43 depletion rescues aberrant CFTR exon 9 skipping
-
Ayala YM, Pagani F, Baralle FE: TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett 2006; 580:1339-1344
-
(2006)
FEBS Lett
, vol.580
, pp. 1339-1344
-
-
Ayala, Y.M.1
Pagani, F.2
Baralle, F.E.3
-
54
-
-
0035794665
-
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
-
Buratti E, D?k T, Zuccato E, et al: Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001; 20:1774-1784
-
(2001)
EMBO J
, vol.20
, pp. 1774-1784
-
-
Buratti, E.1
Dk, T.2
Zuccato, E.3
-
55
-
-
79551475666
-
Anthropological features of the CFTR gene: Its variability in an African population
-
Maria Ciminelli B, Bombieri C, Ciccacci C, et al: Anthropological features of the CFTR gene: Its variability in an African population. Ann Hum Biol 2011; 38:203-209
-
(2011)
Ann Hum Biol
, vol.38
, pp. 203-209
-
-
Maria Ciminelli, B.1
Bombieri, C.2
Ciccacci, C.3
-
56
-
-
0033836071
-
Mutation analysis of the cystic fibrosis and cationic trypsinogen genes in patients with alcohol-related pancreatitis
-
Monaghan KG, Jackson CE, KuKuruga DL, et al: Mutation analysis of the cystic fibrosis and cationic trypsinogen genes in patients with alcohol-related pancreatitis. Am J Med Genet 2000; 94:120-124
-
(2000)
Am J Med Genet
, vol.94
, pp. 120-124
-
-
Monaghan, K.G.1
Jackson, C.E.2
Kukuruga, D.L.3
-
57
-
-
0024423668
-
Identification of the cystic fibrosis gene: Genetic analysis
-
Kerem B, Rommens JM, Buchanan JA, et al: Identification of the cystic fibrosis gene: Genetic analysis. Science 1989; 245:1073-1080
-
(1989)
Science
, vol.245
, pp. 1073-1080
-
-
Kerem, B.1
Rommens, J.M.2
Buchanan, J.A.3
-
58
-
-
84870746265
-
-
Accessed February 1, 2009
-
Cystic Fibrosis Mutation Database. Available at: http://www.genet. sickkids.on.ca/Home. html. Accessed February 1, 2009
-
Cystic Fibrosis Mutation Database
-
-
-
59
-
-
34249997024
-
NCI-NHGRI Working Group on Replication in Association Studies: Replicating genotypephenotype associations
-
Chanock SJ, Manolio T, Boehnke M, et al: NCI-NHGRI Working Group on Replication in Association Studies: Replicating genotypephenotype associations. Nature 2007; 447:655-660
-
(2007)
Nature
, vol.447
, pp. 655-660
-
-
Chanock, S.J.1
Manolio, T.2
Boehnke, M.3
|