Similar articles for PMID: 7512993

Year	Number of Results
1968	1
1969	1
1973	2
1975	1
1983	1
1989	4
1990	12
1991	39
1992	64
1993	47
1994	44
1995	22
1996	15
1997	10
1998	7
1999	7
2000	10
2001	6
2002	6
2003	12
2004	8
2005	7
2006	4
2007	5
2008	6
2009	6
2010	8
2011	7
2012	10
2013	11
2014	11
2015	7
2016	7
2017	7
2018	6
2019	9
2020	12
2021	13
2022	9
2023	2
2024	0

1

A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.

Will K, Dörk T, Stuhrmann M, Meitinger T, Bertele-Harms R, Tümmler B, Schmidtke J. Will K, et al. J Clin Invest. 1994 Apr;93(4):1852-9. doi: 10.1172/JCI117172. J Clin Invest. 1994. PMID: 7512993 Free PMC article.

2

Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.

Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR. Hamosh A, et al. J Clin Invest. 1991 Dec;88(6):1880-5. doi: 10.1172/JCI115510. J Clin Invest. 1991. PMID: 1721624 Free PMC article.

3

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.

Will K, Dörk T, Stuhrmann M, von der Hardt H, Ellemunter H, Tümmler B, Schmidtke J. Will K, et al. Hum Mutat. 1995;5(3):210-20. doi: 10.1002/humu.1380050305. Hum Mutat. 1995. PMID: 7541274

4

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. Tzetis M, et al. Hum Genet. 2001 Dec;109(6):592-601. doi: 10.1007/s00439-001-0631-0. Epub 2001 Nov 6. Hum Genet. 2001. PMID: 11810271

5

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.

Highsmith WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM, et al. Highsmith WE, et al. N Engl J Med. 1994 Oct 13;331(15):974-80. doi: 10.1056/NEJM199410133311503. N Engl J Med. 1994. PMID: 7521937 Free article.

6

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS. Strong TV, et al. Hum Mutat. 1992;1(5):380-7. doi: 10.1002/humu.1380010506. Hum Mutat. 1992. PMID: 1284540 Free article.

7

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.

Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG. Chu CS, et al. Nat Genet. 1993 Feb;3(2):151-6. doi: 10.1038/ng0293-151. Nat Genet. 1993. PMID: 7684646

8

The stop mutation R553X in the CFTR gene results in exon skipping.

Hull J, Shackleton S, Harris A. Hull J, et al. Genomics. 1994 Jan 15;19(2):362-4. doi: 10.1006/geno.1994.1070. Genomics. 1994. PMID: 7514569

9

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding 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, Cutting GR, Crystal RG. Chu CS, et al. J Clin Invest. 1992 Sep;90(3):785-90. doi: 10.1172/JCI115952. J Clin Invest. 1992. PMID: 1381723 Free PMC article.

10

Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.

Rolfini R, Cabrini G. Rolfini R, et al. J Clin Invest. 1993 Dec;92(6):2683-7. doi: 10.1172/JCI116885. J Clin Invest. 1993. PMID: 7504691 Free PMC article.

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