Results 251 to 260 of about 1,404,124 (275)

Identification of a nonsense mutation in feline ABCB1.

Journal of Veterinary Pharmacology and Therapeutics, 2015
The aim of this study was to sequence all exons of the ABCB1 (MDR1) gene in cats that had experienced adverse reactions to P-glycoprotein substrate drugs (phenotyped cats).
K. Mealey, N. S. Burke
semanticscholar   +1 more source

Effect of nonsense mutations on PTEN mRNA stability

Human Genetics, 2000
Cowden disease is an autosomal dominant disorder associated with an elevated risk of breast, thyroid and skin cancers, in which germline mutations of a tumour suppressor gene (PTEN) have been identified. PTEN has a dual-specificity tyrosine phosphatase domain thought to be essential for tumour suppression.
Peter M. George, Martin M. Ferguson, Anthony Raizis   +2 more
openaire   +3 more sources

Isolation and characterization of context mutations affecting the suppressibility of nonsense mutations

Molecular and General Genetics MGG, 1980
Secondary mutations which increase the efficiency of suppression of nonsense mutations in the rIIB cistron of bacteriophage T4 have been isolated. These secondary mutations, called context mutations, map at sites very close to the nonsense codon, possibly on the promotor distal side.
Richard H. Epstein, Michele M. Fluck
openaire   +3 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
Yamit Shorer, Michal Caspi, Prathamesh T Nadar-Ponniah, Yifat David, Amnon Wittenstein, Rina Rosin-Arbesfeld   +5 more
openaire   +2 more sources

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

Human Molecular Genetics, 1993
The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of alpha-L-fucosidase (EC 3.2.1.51). We have identified six new potential disease causing mutations detected by PCR amplification and sequencing of all 8 exons of the alpha-L-fucosidase gene FUCA1.
Seo, Hee-Chan, Willems, Patrick J., O'Brien, John S.   +2 more
openaire   +4 more sources

Restoration of dystrophin expression in mice by suppressing a nonsense mutation through the incorporation of unnatural amino acids

Nature Biomedical Engineering, 2021
Ningning Shi, Qi Yang, Haoran Zhang, Jiaqi Lu, Haishuang Lin, Xu Yang, Aikedan Abulimiti, Jialu Cheng, Yu Wang, L. Tong, Tianchang Wang, Xiaodong Zhang, Hongmin Chen, Qing Xia   +13 more
semanticscholar   +1 more source

[Nonsense mutations and genetic compensation response].

Yi chuan = Hereditas, 2019
The genetic compensation response (GCR) was firstly described in zebrafish to explain the phenotypic discrepancies between gene-knockout and gene-knockdown, whereby a deleterious mutation, but not gene-knockdown, can lead to the transcriptional upregulation of related genes, which can assume the function of the mutated gene.
Zhi Peng Ma, Jun Chen
openaire   +3 more sources

Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family.

European Journal of Oral Sciences, 2012
Tooth agenesis is one of the most common developmental disorders in humans. Previous studies have attributed non-syndromic tooth agenesis to mutations in several genes, including MSX1, PAX9, EDA, and AXIN2. In this study, we investigated a Chinese family
Jia Liang, Lingling Zhu, L. Meng, Dong Chen, Z. Bian   +4 more
semanticscholar   +1 more source

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 ...
Andigoni Malousi, Nicos Maglaveras, Sofia Kouidou   +2 more
openaire   +3 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   +3 more sources