Results 241 to 250 of about 747,509 (280)

Immunodeficiency Associated with a Nonsense Mutation of IKBKB

Journal of Clinical Immunology, 2014
We report an infant of consanguineous parents of Turkish decent with a novel immunodeficiency associated with homozygosity for a nonsense mutation of the gene encoding Inhibitor of nuclear factor kappa-B (NF-κB) kinase subunit beta (IKKβ). At five months, she presented with respiratory insufficiency and Pneumocystis jirovecii pneumonia which was ...
Nielsen, Christian, Jakobsen, Marianne A, Larsen, Martin Jakob, Müller, Amanda C, Hansen, Søren, Lillevang, Søren T, Fisker, Niels, Barington, Torben   +7 more
openaire   +2 more sources

A novel nonsense mutation in the human dystrophin gene

Human Mutation, 1993
Several lines of research recently pointed to- ward the identification of minor structural alter- ations and nucleotide substitutions that together are responsible for the 30% of mutations among patients affected with the X-linked Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (Bulman et al., 1991; Clemens et al.,
Saad FA, Vita G, Mora M, Morandi L, Vitiello L, OLIVIERO, Salvatore, Danieli G.A.   +6 more
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A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

Journal of Medical Genetics, 2014
Background Usher syndrome (USH) is a heterogeneous group of inherited retinitis pigmentosa (RP) and sensorineural hearing loss (SNHL) caused by mutations in at least 12 genes. Our aim is to identify additional USH-related genes.
Samer, Khateb, Lina, Zelinger, Liliana, Mizrahi-Meissonnier, Carmen, Ayuso, Robert K, Koenekoop, Uri, Laxer, Menachem, Gross, Eyal, Banin, Dror, Sharon   +8 more
openaire   +2 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.
M M, Fluck, R H, Epstein
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   +3 more sources

Therapeutic approaches for nonsense mutations in CFTR

Journal of Cystic Fibrosis
This manuscript reviews recent developments in suppressing nonsense mutations in the CFTR gene. Nonsense mutations lead to premature termination codons (PTCs)-UAG, UGA, or UAA- that cause the production of truncated, non-functional proteins and result in the degradation of transcripts by the nonsense-mediated decay (NMD) pathway, and in some cases exon
Mairead Kelly-Aubert, Kari Thrasher, Andrei A. Korostelev, John D. Lueck, Isabelle Sermet-Gaudelus   +4 more
openaire   +2 more sources

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
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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