Results 11 to 20 of about 142,271 (283)
Biomedicines, 2022 (1) Background: PTC124 (Ataluren) is an investigational drug for the treatment of nonsense mutation-mediated genetic diseases. With the exception of the TP53 tumor suppressor gene, there has been little research on cancers with nonsense mutation.
Ming-Han Wu +9 more
doaj +1 more source
A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. [PDF]
PLoS ONE, 2013 PURPOSE: This study was intended to identify the disease causing genes in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
Fang Lu +15 more
doaj +1 more source
Frontiers in Cellular Neuroscience, 2023 Dravet syndrome (Dravet) is a severe congenital developmental genetic epilepsy caused by de novo mutations in the SCN1A gene. Nonsense mutations are found in ∼20% of the patients, and the R613X mutation was identified in multiple patients.
Anat Mavashov +14 more
doaj +1 more source
Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner
Pharmaceuticals, 2021 Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function.
Sylwia Michorowska
doaj +1 more source
A novel variant in PAX6 as the cause of aniridia in a Chinese family
BMC Ophthalmology, 2021 Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.
X Jin, W Liu, LH Qv, WQ X, HB Huang
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo +4 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
openaire +2 more sources
Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]
, 2017 Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina +3 more
core +2 more sources
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.
D, Berkowitz +4 more
openaire +2 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.
Akam, Michael, Alonso, Claudio R
core +2 more sources