Regular ArticleThe Molecular Basis of Disease Variability among Cystic Fibrosis Patients Carrying the 3849+10 kb C→T Mutation☆
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2022, Journal of Cystic FibrosisCitation Excerpt :Traditionally, Cystic Fibrosis is characterized by absence or near absence of CFTR function [8]. Exocrine pancreatic sufficiency and milder lung disease are observed when CFTR function is increased to 3–5% of Wild Type (WT) CFTR function [9–14]. In cell cultures, normal transepithelial chloride transport is usually observed when CFTR function measured in human airway epithelial cells ex vivo exceeds 10% of WT [15–17].
Oligonucleotide-based therapies for cystic fibrosis
2022, Current Opinion in PharmacologyAntisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10 kb C-to-T splicing mutation
2021, Journal of Cystic FibrosisCitation Excerpt :Therefore, another approach is required in order to restore the CFTR function and significantly improve the disease in patients carrying alternative splicing mutations. Importantly, a correlation between lung disease severity as measured by lung function and the level of correctly spliced CFTR transcripts was found for patients carrying various splicing mutations, including the 3849+10 kb C-to-T mutation [8,14–17] as reviewed in [18]. This correlation is found also among patients with the same genotype [16,17].
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M. L. Birnstiel
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To whom correspondence should be addressed at Department of Genetics, The Life Sciences Institute, The Hebrew University, Jerusalem, Israel 91904. Telephone: 972-2-6585689. Fax: 972-2-6586975. E-mail:[email protected].