|1.||Nürnberg, Gudrun: 8 articles (02/2014 - 03/2008)|
|2.||Nürnberg, Peter: 8 articles (02/2014 - 03/2008)|
|3.||Matsuo, Masafumi: 8 articles (06/2012 - 03/2004)|
|4.||Takeshima, Yasuhiro: 7 articles (06/2012 - 03/2004)|
|5.||Najmabadi, Hossein: 6 articles (03/2015 - 02/2007)|
|6.||Rouleau, Guy A: 6 articles (01/2015 - 11/2010)|
|7.||Baasov, Timor: 6 articles (04/2014 - 05/2009)|
|8.||Zeviani, Massimo: 5 articles (07/2015 - 03/2007)|
|9.||Moore, Anthony T: 5 articles (04/2015 - 01/2009)|
|10.||Elfring, Gary L: 5 articles (10/2014 - 04/2007)|
01/01/2009 - "The G428A nonsense mutation in FUT2 provides strong but not absolute protection against symptomatic GII.4 Norovirus infection."
08/01/2007 - "A strong correlation (P = 0.003) was found between the secretor phenotype and symptomatic disease, extending previous knowledge and confirming that nonsense mutations in the FUT2 gene provide protection against symptomatic norovirus (GGII.4) infections."
07/01/2014 - "The present report is the first to describe norovirus GI.6 infection in patients with the G428A nonsense mutation in FUT2; this cluster of cases suggests that the G428A mutation in FUT2 may not confer resistance to norovirus GI.6. Direct-to-consumer genetic testing is empowering members of the public to identify novel associations with their genetic traits. "
07/01/2014 - "Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ."
11/01/2012 - "Resting CD4(+) T cells from healthy donors following SAMHD1 silencing or from a patient with Aicardi-Goutières syndrome homozygous for a nonsense mutation in SAMHD1 were permissive for HIV-1 infection. "
08/01/2004 - "Two new mutations leading to premature stop codons were identified in patients who evolved towards severe heart failure (< 25 years old): 657C>T and 173_179del. "
05/27/2004 - "We tested the hypothesis that possession of the C34T nonsense mutation in AMPD1 gene, which is known to improve survival in chronic heart failure, protects against cardiac dysfunction in donors. "
06/01/2014 - "One patient, heterozygous for a PKP2 nonsense mutation, developed severe heart failure and underwent cardiac transplantation. "
01/01/2005 - "Possession of the nonsense mutation in AMPD 1 C34T gene has been linked to improved survival in patients with heart failure, possibly by promoting the formation of adenosine. "
09/01/2003 - "Possession of the C34T (Glu12Stop) nonsense mutation in the AMP-deaminase 1 (AMPD1) gene has been shown to be associated with improved prognosis in heart failure and ischemic heart disease. "
|3.||Cystic Fibrosis (Mucoviscidosis)
11/01/2010 - "This article summarizes our current knowledge of mutation-specific therapy, and focuses on orally bioavailable potentiators and correctors and suppressors of premature termination codons, including preclinical model systems and clinical trials in cystic fibrosis."
08/30/2008 - "This phase II prospective trial recruited adults with cystic fibrosis who had at least one nonsense mutation in the CFTR gene. "
03/03/2014 - "A well-known example of these diseases is cystic fibrosis (CF), where approximately 10% (worldwide) of patients have nonsense mutations in the CF transmembrane regulator (CFTR) gene. "
03/01/2014 - "We describe the presentation of a Hispanic adolescent with chronic respiratory symptoms and poor growth that led to a diagnosis of cystic fibrosis (CF) based on an indeterminate sweat chloride result and DNA sequence analysis that revealed a single new frameshift mutation, Nt3878insATCAG, which results in a premature stop codon in exon 20 of the CFTR gene. "
07/01/2007 - "Cystic fibrosis (CF) is an autosomal recessive disorder caused by many types of genetic defects, including premature stop codons. "
01/01/2006 - "The detection of Premature Stop Codons (PSCs) in human genes is very useful for the genetic diagnosis of different hereditary cancers, e.g. "
11/01/2015 - "Notably, SNVs causing intron retention were enriched in tumor suppressors, and 97% of these SNVs generated a premature termination codon, leading to loss of function through nonsense-mediated decay or truncated protein. "
09/01/2015 - "Of particular note, the infiltrative BCCs showed a nonsense mutation, c.943C>T, resulting in p.Q315X in the large tumor suppressor 1 (LATS1) gene, as well as the loss of the wild-type allele of LATS1 (6q25.1), thus indicating that the LATS1 gene was biallelically disrupted. "
03/01/2015 - "Importantly, a homozygous nonsense mutation of WWOX gene in humans leads to neural pathologies and early death, rather than spontaneous cancer development. "
01/01/2015 - "Targeted sequencing of the primary tumor revealed deletions of CDKN2A and CDKN2B, a nonsense mutation in ARID2, and single missense mutations of unknown significance in nine other genes. "
|5.||Muscular Dystrophies (Muscular Dystrophy)
08/01/1999 - "Furthermore, these results raise the possibility of a novel treatment regimen for muscular dystrophy and other diseases caused by premature stop codon mutations. "
04/01/2014 - "A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations."
01/01/2009 - "By-passing the nonsense mutation in the 4 CV mouse model of muscular dystrophy by induced exon skipping."
04/01/2001 - "Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping."
11/01/2004 - "[Possible chemotherapy of muscular dystrophy caused by nonsense mutation]."
|2.||Messenger RNA (mRNA)
|3.||RNA (Ribonucleic Acid)
|4.||Protein Sorting Signals (Signal Peptide)
|9.||AMP Deaminase (Myoadenylate Deaminase)
|1.||Heterologous Transplantation (Xenotransplantation)
|2.||Drug Therapy (Chemotherapy)
|3.||Cord Blood Stem Cell Transplantation
|4.||Heart Transplantation (Grafting, Heart)
|5.||Transplantation (Transplant Recipients)