146 related articles for article (PubMed ID: 12843337)
1. Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.
Ramalho AS; Beck S; Penque D; Gonska T; Seydewitz HH; Mall M; Amaral MD
J Med Genet; 2003 Jul; 40(7):e88. PubMed ID: 12843337
[No Abstract] [Full Text] [Related]
2. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
Aznarez I; Zielenski J; Rommens JM; Blencowe BJ; Tsui LC
J Med Genet; 2007 May; 44(5):341-6. PubMed ID: 17475917
[TBL] [Abstract][Full Text] [Related]
3. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
Steiner B; Truninger K; Sanz J; Schaller A; Gallati S
Hum Mutat; 2004 Aug; 24(2):120-9. PubMed ID: 15241793
[TBL] [Abstract][Full Text] [Related]
4. Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.
Amaral MD; Pacheco P; Beck S; Farinha CM; Penque D; Nogueira P; Barreto C; Lopes B; Casals T; Dapena J; Gartner S; Vásquez C; Pérez-Frías J; Olveira C; Cabanas R; Estivill X; Tzetis M; Kanavakis E; Doudounakis S; Dörk T; Tümmler B; Girodon-Boulandet E; Cazeneuve C; Goossens M; Blayau M; Verlingue C; Vieira I; Féréc C; Claustres M; des Georges M; Clavel C; Birembaut P; Hubert D; Bienvenu T; Adoun M; Chomel JC; De Boeck K; Cuppens H; Lavinha J
J Med Genet; 2001 Nov; 38(11):777-83. PubMed ID: 11732487
[No Abstract] [Full Text] [Related]
5. Solid phase fluorescent sequencing of the CFTR gene.
Cuppens H; Cassiman JJ
Methods Mol Biol; 2001; 167():63-88. PubMed ID: 11265322
[No Abstract] [Full Text] [Related]
6. Is the spectrum of mutations in Indian patients with cystic fibrosis different?
Kabra M; Kabra SK; Ghosh M; Khanna A; Arora S; Menon PS; Verma IC; Wallace A
Am J Med Genet; 2000 Jul; 93(2):161-3. PubMed ID: 10869121
[No Abstract] [Full Text] [Related]
7. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Aznarez I; Chan EM; Zielenski J; Blencowe BJ; Tsui LC
Hum Mol Genet; 2003 Aug; 12(16):2031-40. PubMed ID: 12913074
[TBL] [Abstract][Full Text] [Related]
8. 40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the Cystic Fibrosis Transmembrane Conductance Regulator gene.
Chevalier-Porst F; Bonardot AM; Chazalette JP; Mathieu M; Bozon D
Hum Mutat; 1998; Suppl 1():S291-4. PubMed ID: 9452112
[No Abstract] [Full Text] [Related]
9. Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.
Pagani F; Buratti E; Stuani C; Baralle FE
J Biol Chem; 2003 Jul; 278(29):26580-8. PubMed ID: 12732620
[TBL] [Abstract][Full Text] [Related]
10. A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
Shackleton S; Harris A
Hum Mutat; 1998; Suppl 1():S156-7. PubMed ID: 9452073
[No Abstract] [Full Text] [Related]
11. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
Tzetis M; Efthymiadou A; Doudounakis S; Kanavakis E
Hum Genet; 2001 Dec; 109(6):592-601. PubMed ID: 11810271
[TBL] [Abstract][Full Text] [Related]
12. Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
Joynt AT; Evans TA; Pellicore MJ; Davis-Marcisak EF; Aksit MA; Eastman AC; Patel SU; Paul KC; Osorio DL; Bowling AD; Cotton CU; Raraigh KS; West NE; Merlo CA; Cutting GR; Sharma N
PLoS Genet; 2020 Oct; 16(10):e1009100. PubMed ID: 33085659
[TBL] [Abstract][Full Text] [Related]
13. Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients.
Reboul MP; Bieth E; Fayon M; Biteau N; Barbier R; Dromer C; Desgeorges M; Claustres M; Bremont F; Lacombe D; Iron A
J Med Genet; 2002 Nov; 39(11):e73. PubMed ID: 12414835
[No Abstract] [Full Text] [Related]
14. Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.
Costantino L; Rusconi D; Soldà G; Seia M; Paracchini V; Porcaro L; Asselta R; Colombo C; Duga S
Am J Respir Cell Mol Biol; 2013 May; 48(5):619-25. PubMed ID: 23349053
[TBL] [Abstract][Full Text] [Related]
15. Analysis of alternative splicing patterns in the cystic fibrosis transmembrane conductance regulator gene using mRNA derived from lymphoblastoid cells of cystic fibrosis patients.
Bienvenu T; Beldjord C; Chelly J; Fonknechten N; Hubert D; Dusser D; Kaplan JC
Eur J Hum Genet; 1996; 4(3):127-34. PubMed ID: 8840112
[TBL] [Abstract][Full Text] [Related]
16. Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.
Scott A; Petrykowska HM; Hefferon T; Gotea V; Elnitski L
J Cyst Fibros; 2012 Dec; 11(6):511-7. PubMed ID: 22591852
[TBL] [Abstract][Full Text] [Related]
17. Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene.
Greil I; Wagner K; Rosenkranz W
Hum Mol Genet; 1993 Dec; 2(12):2171-2. PubMed ID: 7509231
[No Abstract] [Full Text] [Related]
18. Abnormal mRNA splicing resulting from three different mutations in the CFTR gene.
Hull J; Shackleton S; Harris A
Hum Mol Genet; 1993 Jun; 2(6):689-92. PubMed ID: 7689009
[TBL] [Abstract][Full Text] [Related]
19. Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
Hantash FM; Redman JB; Starn K; Anderson B; Buller A; McGinniss MJ; Quan F; Peng M; Sun W; Strom CM
Hum Genet; 2006 Mar; 119(1-2):126-36. PubMed ID: 16362824
[TBL] [Abstract][Full Text] [Related]
20. Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
Casals T; Ramos MD; Giménez J; Nadal M; Nunes V; Estivill X
Hum Mutat; 1998; Suppl 1():S99-102. PubMed ID: 9452054
[No Abstract] [Full Text] [Related]
[Next] [New Search]
