Results 21 to 30 of about 1,412,344 (374)
A nonsense mutation in IKBKB causes combined immunodeficiency. [PDF]
Blood, 2014 Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system.
T. Mousallem +9 more
semanticscholar +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
Recoding of Nonsense Mutation as a Pharmacological Strategy. [PDF]
Biomedicines, 2023 Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation of a nonsense-mediated decay (NMD) pathway.
Temaj G +5 more
europepmc +5 more sources
Cohen syndrome due to a novel VPS13B mutation in a Chinese family
Journal of Neurorestoratology, 2022 We present the case of a novel homozygous nonsense (c.4846C > T [p.R1616X]) mutation in the VPS13B in a Chinese boy with the primary symptoms of Cohen syndrome.
Shu-ying Cai +5 more
doaj +1 more source
Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases. [PDF]
PLoS ONE, 2017 About 10% of patients with a genetic disease carry a nonsense mutation causing their pathology. A strategy for correcting nonsense mutations is premature termination codon (PTC) readthrough, i.e.
Hana Benhabiles +10 more
doaj +1 more source
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
openaire +3 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.
John R. Roth +4 more
openaire +3 more sources
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