Results 21 to 30 of about 747,509 (280)

Procedure for Identifying Nonsense Mutations [PDF]

Journal of Bacteriology, 1968
A method has been devised for the rapid identification of nonsense mutations (UAG, UAA, UGA codons) in Salmonella . The mutations to be tested are reverted, and the revertants are replica-printed onto lactose plates spread with lawns of tester strains.
D, Berkowitz, J M, Hushon, H J, Whitfield, J, Roth, B N, Ames   +4 more
openaire   +2 more sources

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood [PDF]

, 2005
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert   +22 more
core   +1 more source

dnaB125, a dnaB nonsense mutation [PDF]

Journal of Bacteriology, 1981
A temperature-sensitive dnaB mutation, dnaB125, was shown to be a suppressed amber mutation. The effects of inserting different amino acids at the mutated site via amber suppressors were examined for both Escherichia coli and bacteriophage gamma growth.
R A, Sclafani, J A, Wechsler
openaire   +2 more sources

2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations

Nature Communications, 2020
Nonsense mutations can be corrected by several molecules that activate readthrough of premature termination codon. Here, the authors report that 2,6-diaminopurine efficiently corrects UGA nonsense mutations with no significant toxicity.
Carole Trzaska, Séverine Amand, Christine Bailly, Catherine Leroy, Virginie Marchand, Evelyne Duvernois-Berthet, Jean-Michel Saliou, Hana Benhabiles, Elisabeth Werkmeister, Thierry Chassat, Romain Guilbert, David Hannebique, Anthony Mouray, Marie-Christine Copin, Pierre-Arthur Moreau, Eric Adriaenssens, Andreas Kulozik, Eric Westhof, David Tulasne, Yuri Motorin, Sylvie Rebuffat, Fabrice Lejeune   +21 more
doaj   +1 more source

Readthrough of premature termination codons in the adenomatous polyposis coli gene restores its biological activity in human cancer cells. [PDF]

PLoS ONE, 2011
The APC tumor suppressor gene is frequently mutated in human colorectal cancer, with nonsense mutations accounting for 30% of all mutations in this gene.
Célia Floquet, Jean-Pierre Rousset, Laure Bidou   +2 more
doaj   +1 more source

Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing

Molecular Therapy: Methods & Clinical Development, 2020
Nonsense-mediated decay (NMD) is a major pathogenic mechanism underlying a diversity of genetic disorders. Nonsense variants tend to lead to more severe disease phenotypes and are often difficult targets for small molecule therapeutic development as a ...
Steven Erwood, Onofrio Laselva, Teija M.I. Bily, Reid A. Brewer, Alexandra H. Rutherford, Christine E. Bear, Evgueni A. Ivakine   +6 more
doaj   +1 more source

Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC

Hereditary Cancer in Clinical Practice, 2021
Background and purposes The pathogenic BRCA1/2 germline mutations contributed to Hereditary Breast and Ovarian Cancer (HBOC) susceptibility. The features of BRCA1/2 germline mutations in non-small cell lung cancer (NSCLC) have not been systematically ...
Zheyuan Xu, Yang Wang, Lan Wang, Fengxian Cui, Libin Zhang, Jian Xiong, Hao Peng   +6 more
doaj   +1 more source

Suppression of dnaE nonsense mutations by pcbA1 [PDF]

Journal of Bacteriology, 1989
DNA polymerase III has been recognized as the required replication enzyme in Escherichia coli. The synthesis subunit of DNA polymerase III holoenzyme (alpha subunit) is encoded by the dnaE gene. We have reported that E. coli cells can survive and grow in the absence of a functional dnaE gene product if DNA polymerase I and the pcbA1 mutation are ...
H, Maki, S K, Bryan, T, Horiuchi, R E, Moses   +3 more
openaire   +2 more sources

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case Reports in Neurological Medicine, 2018
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen   +2 more
doaj   +1 more source

Prime editing-mediated correction of the CFTR W1282X mutation in iPSCs and derived airway epithelial cells.

PLoS ONE, 2023
A major unmet need in the cystic fibrosis (CF) therapeutic landscape is the lack of effective treatments for nonsense CFTR mutations, which affect approximately 10% of CF patients.
Chao Li, Zhong Liu, Justin Anderson, Zhongyu Liu, Liping Tang, Yao Li, Ning Peng, Jianguo Chen, Xueming Liu, Lianwu Fu, Tim M Townes, Steven M Rowe, David M Bedwell, Jennifer Guimbellot, Rui Zhao   +14 more
doaj   +1 more source