Environmental and Molecular Mutagenesis, EarlyView.Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons +17 more
wiley +1 more source
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK. [PDF]
J Clin Immunol, 2023 Keller B +13 more
europepmc +1 more source
In vitro studies on the mechanism of suppression of a nonsense mutation.
, 1965 Dean Engelhardt +3 more
openalex +1 more source
Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants. [PDF]
, 2019 Available CFTR modulators provide no therapeutic benefit for cystic fibrosis (CF) caused by many loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel, including N1303K. We previously introduced the
Finkbeiner, Walter E +7 more
core
Environmental and Molecular Mutagenesis, EarlyView.ABSTRACT We constructed a catalog of mutational sites in the tdk gene of Escherichia coli that consists of 378 different base pair substitutions at 245 different sites (base pairs). This allows us to examine the tendency of different sub‐regions of the gene to be more or less prone to mutations when compared with other sub‐regions.
Katherine Douglas +10 more
wiley +1 more source
A NEW β°‐THALASSAEMIA NONSENSE MUTATION (CODON 112, T→A) NOT ASSOCIATED WITH A DOMINANT TYPE OF THALASSAEMIA IN THE HETEROZYGOTE [PDF]
, 1993 Vladimír Divoký +5 more
openalex +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity
Proceedings of the National Academy of Sciences of the United States of America, 2017 Alireza Baradaran-Heravi +9 more
semanticscholar +1 more source
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases. [PDF]
, 2016 PurposeThis study was undertaken to identify causal mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in consanguineous families.MethodsLarge consanguineous families were ascertained from the Punjab province of Pakistan.
Akram, Javed +11 more
core +1 more source
Interaction of nonsense suppressor tRNAs and codon nonsense mutations or termination codons
Advances in Biological Chemistry, 2012 Codon nonsense mutations include amber, ochre, or opal mutations according to termination codon consisting of three types (TAG, TAA and TGA). Codon nonsense mutations are also divided into natural and artificial mutations. We discussed the interaction of codon nonsense mutations and suppressor tRNAs in vitro and in vivo.
openaire +3 more sources