Results 11 to 20 of about 1,404,124 (275)
Ataluren treatment of patients with nonsense mutation dystrophinopathy [PDF]
Muscle & Nerve, 2014 ABSTRACTIntroduction: Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. Methods: Randomized, double‐blind, placebo‐controlled study; males ≥5 years with nm‐dystrophinopathy ...
Bushby, Katharine +34 more
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Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. [PDF]
PLoS ONE, 2013 Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein.
Richard S Finkel +10 more
doaj +2 more sources
A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
Neural Plasticity, 2016 POU4F3 gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system.
Chi Zhang +8 more
doaj +2 more sources
Isolated brachydactyly type E caused by a
BMC Medical Genetics, 2012 Background Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb.
Jamsheer Aleksander +3 more
doaj +2 more sources
A nonsense mutation in IKBKB causes combined immunodeficiency [PDF]
Blood, 2014 Key PointsA nonsense mutation in IKBKB caused the absence of IKKβ and a lack of T- and B-cell activation through their antigen receptors. IKKβ is not necessary for development of T or B lymphocytes but is important for their activation and for the development/function of NK cells.
David Goldstein +11 more
openaire +4 more sources
EMBO Molecular Medicine, 2012 Translational read‐through‐inducing drugs (TRIDs) promote read‐through of nonsense mutations, placing them in the spotlight of current gene‐based therapeutic research.
Tobias Goldmann +7 more
doaj +2 more sources
Identifying Potent Nonsense-Mediated mRNA Decay Inhibitors with a Novel Screening System
Biomedicines, 2023 Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that degrades mRNAs carrying a premature termination codon. Its inhibition, alone or in combination with other approaches, could be exploited to develop therapies for genetic diseases ...
Julie Carrard +11 more
doaj +1 more source
dnaB125, a dnaB nonsense mutation [PDF]
Journal of Bacteriology, 1981 A temperature-sensitive dnaB mutation, dnaB125, was shown to be a suppressed amber mutation. The effects of inserting different amino acids at the mutated site via amber suppressors were examined for both Escherichia coli and bacteriophage gamma growth.
R A Sclafani, J A Wechsler
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Procedure for Identifying Nonsense Mutations [PDF]
Journal of Bacteriology, 1968 A method has been devised for the rapid identification of nonsense mutations (UAG, UAA, UGA codons) in Salmonella . The mutations to be tested are reverted, and the revertants are replica-printed onto lactose plates spread with lawns of tester strains.
John R. Roth +4 more
openaire +3 more sources