The suppression of premature termination codons and the repair of splicing mutations in CFTR
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Pharmacology"
DOI: 10.1016/j.coph.2017.09.017
Abstract: HighlightsPremature termination codons are susceptible to constitutive readthrough.Readthrough compounds may restore synthesis of a functional full‐length protein.Mutations that alter splicing induce inappropriate inclusion or skipping of an exon.Oligonucleotide‐based therapies inhibit or activate specific splicing events.… read more here.
Keywords: codons repair; termination codons; suppression premature; splicing mutations ... See more keywords
MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2017.03.008
Abstract: Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of… read more here.
Keywords: hearing loss; mutations hearing; myo15a splicing; splicing mutations ... See more keywords
Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families
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DOI: 10.1159/000508562
Abstract: X-linked Alport syndrome (XLAS) is a common hereditary nephropathy caused by COL4A5 gene mutations. To date, many splice site mutations have been described but few have been functionally analyzed to verify the exact splicing effects… read more here.
Keywords: analysis; alport syndrome; exon; site ... See more keywords