Karen Mention
Overview
Explore the profile of Karen Mention including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
3
Citations
27
Followers
0
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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...