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Karen Mention

Explore the profile of Karen Mention including associated specialties, affiliations and a list of published articles. Areas
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Citations 27
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Recent Articles
1.
Mention K, Cavusoglu-Doran K, Joynt A, Santos L, Sanz D, Eastman A, et al.
Hum Mol Genet . 2023 Aug; 32(23):3237-3248. PMID: 37649273
Small molecule drugs known as modulators can treat ~90% of people with cystic fibrosis (CF), but do not work for premature termination codon variants such as W1282X (c.3846G>A). Here we...
2.
Santos L, Mention K, Cavusoglu-Doran K, Sanz D, Bacalhau M, Lopes-Pacheco M, et al.
J Cyst Fibros . 2021 Jun; 21(1):181-187. PMID: 34103250
Background: W1282X-CFTR variant (c.3846G>A) is the second most common nonsense cystic fibrosis (CF)-causing mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Even though remarkable breakthroughs have been done...
3.
Mention K, Santos L, Harrison P
Genes (Basel) . 2019 May; 10(5). PMID: 31117296
Cystic fibrosis (CF) is a monogenic autosomal recessive disorder caused by mutations in the gene. There are at least 346 disease-causing variants in the gene, but effective small-molecule therapies exist...