Results 31 to 40 of about 1,412,344 (374)
A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. [PDF]
PLoS ONE, 2013 PURPOSE: This study was intended to identify the disease causing genes in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
Fang Lu +15 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 ...
Sharon K. Bryan +3 more
openaire +3 more sources
Frontiers in Cellular Neuroscience, 2023 Dravet syndrome (Dravet) is a severe congenital developmental genetic epilepsy caused by de novo mutations in the SCN1A gene. Nonsense mutations are found in ∼20% of the patients, and the R613X mutation was identified in multiple patients.
Anat Mavashov +14 more
doaj +1 more source
Suppression of Nonsense Mutations by New Emerging Technologies [PDF]
International Journal of Molecular Sciences, 2020 Nonsense mutations often result from single nucleotide substitutions that change a sense codon (coding for an amino acid) to a nonsense or premature termination codon (PTC) within the coding region of a gene. The impact of nonsense mutations is two-fold: (1) the PTC-containing mRNA is degraded by a surveillance pathway called nonsense-mediated mRNA ...
Pedro Morais, Hironori Adachi, Yi-Tao Yu
openaire +3 more sources
A novel variant in PAX6 as the cause of aniridia in a Chinese family
BMC Ophthalmology, 2021 Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.
X Jin, W Liu, LH Qv, WQ X, HB Huang
doaj +1 more source
Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner
Pharmaceuticals, 2021 Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function.
Sylwia Michorowska
doaj +1 more source
A Nonsense Mutation in MSX1 Causes Witkop Syndrome [PDF]
The American Journal of Human Genetics, 2001 Witkop syndrome, also known as tooth and nail syndrome (TNS), is a rare autosomal dominant disorder. Affected individuals have nail dysplasia and several congenitally missing teeth. To identify the gene responsible for TNS, we used candidate-gene linkage analysis in a three-generation family affected by the disorder.
Dolrudee Jumlongras +9 more
openalex +4 more sources
A BRCA1 Nonsense Mutation Causes Exon Skipping [PDF]
The American Journal of Human Genetics, 1998 The authors would like to thank the family members. We also thank C. Bonnardel, L. Boutrand, T. Conway, J. Lynch, S. Slominski, and P. Watson, for their expert assistance. This work was supported by program grants from le Comite Departemental de l'Ain de La Ligue contre le Cancer, the Council for Tobacco Research (grant 127DR@), the U.S.
Henry T. Lynch +9 more
openaire +3 more sources
Nonaminoglycoside compounds induce readthrough of nonsense mutations [PDF]
Journal of Experimental Medicine, 2009 Large numbers of genetic disorders are caused by nonsense mutations for which compound-induced readthrough of premature termination codons (PTCs) might be exploited as a potential treatment strategy. We have successfully developed a sensitive and quantitative high-throughput screening (HTS) assay, protein transcription/translation (PTT)–enzyme-linked ...
Du, Liutao +10 more
openaire +5 more sources
A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay [PDF]
, 2005 BACKGROUND: Coupling of alternative splicing with nonsense-mediated mRNA decay (NMD) may regulate gene expression. We report here the identification of a nonsense alternative transcript of the fumarylacetoacetate hydrolase (fah) gene, which produces a ...
Bergeron, Anne +4 more
core +3 more sources