Results 251 to 260 of about 640,277 (286)

Aminoglycoside suppression of nonsense mutations in severe hemophilia

Blood, 2005
AbstractAminoglycoside antibiotics exhibit their bactericidal effect by interfering with normal ribosomal activity. In this pilot study, we have evaluated the effect of the aminoglycoside antibiotic gentamicin on the factor VIII (FVIII) and IX levels of severe hemophiliacs with known nonsense mutations.
Paula D, James, Sanj, Raut, Georges E, Rivard, Man-Chiu, Poon, Margaret, Warner, Susan, McKenna, Jayne, Leggo, David, Lillicrap   +7 more
openaire   +2 more sources

Serum starvation enhances nonsense mutation readthrough

Journal of Molecular Medicine, 2019
Of all genetic mutations causing human disease, premature termination codons (PTCs) that result from splicing defaults, insertions, deletions, and point mutations comprise around 30%. From these mutations, around 11% are a substitution of a single nucleotide that change a codon into a premature termination codon. These types of mutations affect several
Amnon, Wittenstein, Michal, Caspi, Yifat, David, Yamit, Shorer, Prathamesh T, Nadar-Ponniah, Rina, Rosin-Arbesfeld   +5 more
openaire   +2 more sources

Methylation and repeats in silent and nonsense mutations of p53

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2006
All exonic CG sequences in p53 are methylated; this epigenetic modification is correlated with frequent G:C-->A:T transitions in p53. Recent reports reveal the presence in p53 of non-CG methylation in CC and CCC sequences, complementary to sites of selective guanosine adduct formation (GG and GGG), and the association of genetic instability with ...
Sofia, Kouidou, Andigoni, Malousi, Nicos, Maglaveras   +2 more
openaire   +2 more sources

KIAA2022 nonsense mutation in a symptomatic female

American Journal of Medical Genetics Part A, 2015
Mutations in the KIAA2022 gene have been implicated in non‐syndromic X‐linked intellectual disability. Thus far, all carrier females reported have been unaffected and genotype–phenotype correlations have not been described. Herein, we report a de novo KIAA2022 nonsense mutation in a 17‐year‐old female with short stature, microcephaly, severe ...
Laura S, Farach, Hope, Northrup
openaire   +2 more sources

Common nonsense mutations in RAD52.

Cancer research, 1999
RAD51, RAD52, and RAD54 encode proteins that are critical to the repair of double-strand DNA breaks by homologous recombination. The physical interactions among the products of RAD51, BRCA1, and BRCA2 have suggested that the BRCA1 and BRCA2 breast cancer susceptibility genes may function, at least in part, in this DNA damage repair pathway.
D W, Bell, D C, Wahrer, D H, Kang, M S, MacMahon, M G, FitzGerald, C, Ishioka, K J, Isselbacher, M, Krainer, D A, Haber   +8 more
openaire   +1 more source

PTC124, nonsense mutations and Duchenne muscular dystrophy

Neuromuscular Disorders, 2007
What the journals ...
openaire   +2 more sources

Translational readthrough induction of pathogenic nonsense mutations

European Journal of Medical Genetics, 2006
The treatment of genetic disorders is one of the biggest challenges lying ahead of modern medicine. While major advancements have been made in gene therapy, it is still far from achieving clinical success. However, other potential methods for treating single gene related diseases have also emerged recently.
openaire   +2 more sources

Nonsense Mutation

2011
  +4 more sources

Nonsense mutations and diminished mRNA levels

Nature Genetics, 1993
I, McIntosh, A, Hamosh, H C, Dietz
openaire   +2 more sources

Suppressor genes for nonsense mutations

Journal of Molecular Biology, 1965
Alan Garen, Suzanne Garen, Robert C. Wilhelm   +2 more
openaire   +2 more sources