A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]
BMC Genomics, 2015 Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
B. Ducro +11 more
semanticscholar +10 more sources
A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. [PDF]
PLoS ONE, 2018 Nonsense mutations are present in 10% of patients with CF, produce a premature termination codon in CFTR mRNA causing early termination of translation, and lead to lack of CFTR function.
Daniel R McHugh +9 more
doaj +2 more sources
Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process. [PDF]
PLoS Biology, 2023 The introduction of premature termination codons (PTCs), as a result of splicing defects, insertions, deletions, or point mutations (also termed nonsense mutations), lead to numerous genetic diseases, ranging from rare neuro-metabolic disorders to ...
Amnon Wittenstein +6 more
doaj +2 more sources
Rescue of nonsense mutations by amlexanox in human cells [PDF]
Orphanet Journal of Rare Diseases, 2012 Background Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense ...
Gonzalez-Hilarion Sara +9 more
doaj +7 more sources
A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124 [PDF]
Biomedicines, 2023 (1) Background: A premature termination codon (PTC) can be induced by a type of point mutation known as a nonsense mutation, which occurs within the coding region. Approximately 3.8% of human cancer patients have nonsense mutations of p53.
Chia-Chi Chen +12 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
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
Ataluren treatment of patients with nonsense mutation dystrophinopathy [PDF]
Muscle & Nerve, 2014 Introduction: 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.
K. Bushby +34 more
semanticscholar +9 more sources
A Hox gene mutation that triggers nonsense-mediated RNA decay and affects alternative splicing during Drosophila development [PDF]
, 2003 Nonsense mutations are usually assumed to affect protein function by generating truncated protein products. Nonetheless, it is now clear that these mutations affect not just protein synthesis but also messenger RNA stability.
Claudio R. Alonso
openalex +4 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