188 related articles for article (PubMed ID: 25489051)
1. Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
Masica DL; Sosnay PR; Raraigh KS; Cutting GR; Karchin R
Hum Mol Genet; 2015 Apr; 24(7):1908-17. PubMed ID: 25489051
[TBL] [Abstract][Full Text] [Related]
2. CFTR genotype and clinical outcomes of adult patients carried as cystic fibrosis disease.
Bonadia LC; de Lima Marson FA; Ribeiro JD; Paschoal IA; Pereira MC; Ribeiro AF; Bertuzzo CS
Gene; 2014 May; 540(2):183-90. PubMed ID: 24583165
[TBL] [Abstract][Full Text] [Related]
3. Mild cystic fibrosis in patients with the rare P5L CFTR mutation.
Spicuzza L; Sciuto C; Di Dio L; Mattina T; Leonardi S; del Giudice MM; La Rosa M
J Cyst Fibros; 2012 Jan; 11(1):30-3. PubMed ID: 21983161
[TBL] [Abstract][Full Text] [Related]
4. Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis.
Bienvenu T; Sermet-Gaudelus I; Burgel PR; Hubert D; Crestani B; Bassinet L; Dusser D; Fajac I
Am J Respir Crit Care Med; 2010 May; 181(10):1078-84. PubMed ID: 20167849
[TBL] [Abstract][Full Text] [Related]
5. On the structural organization of the intracellular domains of CFTR.
Moran O
Int J Biochem Cell Biol; 2014 Jul; 52():7-14. PubMed ID: 24513531
[TBL] [Abstract][Full Text] [Related]
6. Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF; Oliver KE; Schlebach JP; Meiler J; Plate L
PLoS One; 2024; 19(1):e0297560. PubMed ID: 38271453
[TBL] [Abstract][Full Text] [Related]
7. Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models.
Wang Y; Wrennall JA; Cai Z; Li H; Sheppard DN
Int J Biochem Cell Biol; 2014 Jul; 52():47-57. PubMed ID: 24727426
[TBL] [Abstract][Full Text] [Related]
8. Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
Groman JD; Meyer ME; Wilmott RW; Zeitlin PL; Cutting GR
N Engl J Med; 2002 Aug; 347(6):401-7. PubMed ID: 12167682
[TBL] [Abstract][Full Text] [Related]
9. Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
Poulou M; Fylaktou I; Fotoulaki M; Kanavakis E; Tzetis M
J Cyst Fibros; 2012 Jul; 11(4):344-8. PubMed ID: 22326559
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis.
Goubau C; Wilschanski M; Skalická V; Lebecque P; Southern KW; Sermet I; Munck A; Derichs N; Middleton PG; Hjelte L; Padoan R; Vasar M; De Boeck K
Thorax; 2009 Aug; 64(8):683-91. PubMed ID: 19318346
[TBL] [Abstract][Full Text] [Related]
11. Molecular modelling approaches for cystic fibrosis transmembrane conductance regulator studies.
Odolczyk N; Zielenkiewicz P
Int J Biochem Cell Biol; 2014 Jul; 52():39-46. PubMed ID: 24735712
[TBL] [Abstract][Full Text] [Related]
12. CFTR structure and cystic fibrosis.
Cant N; Pollock N; Ford RC
Int J Biochem Cell Biol; 2014 Jul; 52():15-25. PubMed ID: 24534272
[TBL] [Abstract][Full Text] [Related]
13. Regulation of cystic fibrosis transmembrane conductance regulator by microRNA-145, -223, and -494 is altered in ΔF508 cystic fibrosis airway epithelium.
Oglesby IK; Chotirmall SH; McElvaney NG; Greene CM
J Immunol; 2013 Apr; 190(7):3354-62. PubMed ID: 23436935
[TBL] [Abstract][Full Text] [Related]
14. CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes.
El-Seedy A; Girodon E; Norez C; Pajaud J; Pasquet MC; de Becdelièvre A; Bienvenu T; des Georges M; Cabet F; Lalau G; Bieth E; Blayau M; Becq F; Kitzis A; Fanen P; Ladeveze V
Hum Mutat; 2012 Nov; 33(11):1557-65. PubMed ID: 22678879
[TBL] [Abstract][Full Text] [Related]
15. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis.
Sermet-Gaudelus I; Girodon E; Roussel D; Deneuville E; Bui S; Huet F; Guillot M; Aboutaam R; Renouil M; Munck A; des Georges M; Iron A; Thauvin-Robinet C; Fajac I; Lenoir G; Roussey M; Edelman A
Thorax; 2010 Jun; 65(6):539-44. PubMed ID: 20522854
[TBL] [Abstract][Full Text] [Related]
16. N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.
Gené GG; Llobet A; Larriba S; de Semir D; Martínez I; Escalada A; Solsona C; Casals T; Aran JM
Hum Mutat; 2008 May; 29(5):738-49. PubMed ID: 18306312
[TBL] [Abstract][Full Text] [Related]
17. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R; Nalpathamkalam T; Taylor C; Gonska T; Keenan K; Yuan XW; Corey M; Tsui LC; Zielenski J; Durie P
Clin Genet; 2010 May; 77(5):464-73. PubMed ID: 20059485
[TBL] [Abstract][Full Text] [Related]
18. Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.
Sharma H; Mavuduru RS; Singh SK; Prasad R
Mol Hum Reprod; 2014 Sep; 20(9):827-35. PubMed ID: 24958810
[TBL] [Abstract][Full Text] [Related]
19. Evaluation of the disease liability of CFTR variants.
Sosnay PR; Castellani C; Corey M; Dorfman R; Zielenski J; Karchin R; Penland CM; Cutting GR
Methods Mol Biol; 2011; 742():355-72. PubMed ID: 21547743
[TBL] [Abstract][Full Text] [Related]
20. A simplified cyclic adenosine monophosphate-mediated sweat rate test for quantitative measure of cystic fibrosis transmembrane regulator (CFTR) function.
Callen A; Diener-West M; Zeitlin PL; Rubenstein RC
J Pediatr; 2000 Dec; 137(6):849-55. PubMed ID: 11113843
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]