Results 21 to 30 of about 42,487 (241)

Pathogenicity and Long-Term Outcomes of Liddle Syndrome Caused by a Nonsense Mutation of SCNN1G in a Chinese Family

Frontiers in Pediatrics, 2022
ObjectiveLiddle syndrome (LS) is a monogenic hypertension consistent with autosomal dominant inheritance, often with early onset high blood pressure in childhood or adolescence.
Di Zhang, Yi Qu, Xue-Qi Dong, Yi-Ting Lu, Kun-Qi Yang, Xin-Chang Liu, Peng Fan, Yu-Xiao Hu, Chun-Xue Yang, Ling-Gen Gao, Ya-Xin Liu, Xian-Liang Zhou   +11 more
doaj   +1 more source

Transcriptional Silencing of Nonsense Codon-Containing Immunoglobulin Minigenes [PDF]

Molecular Cell, 2005
Cells possess mechanisms to prevent synthesis of potentially deleterious truncated proteins caused by premature translation-termination codons (PTCs). Here, we show that PTCs can induce silencing of transcription of its cognate gene. We demonstrate for immunoglobulin (Ig)-mu minigenes expressed in HeLa cells that this transcriptional silencing is PTC ...
Bühler, Marc, Mohn, Fabio, Stalder, Lukas, Mühlemann, Oliver   +3 more
openaire   +2 more sources

Identifying Potent Nonsense-Mediated mRNA Decay Inhibitors with a Novel Screening System

Biomedicines, 2023
Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that degrades mRNAs carrying a premature termination codon. Its inhibition, alone or in combination with other approaches, could be exploited to develop therapies for genetic diseases ...
Julie Carrard, Fiona Ratajczak, Joséphine Elsens, Catherine Leroy, Rebekah Kong, Lucie Geoffroy, Arnaud Comte, Guy Fournet, Benoît Joseph, Xiubin Li, Sylvie Moebs-Sanchez, Fabrice Lejeune   +11 more
doaj   +1 more source

Nonsense and sense suppression abilities of original and derivative Methanosarcina mazei pyrrolysyl-tRNA synthetase-tRNA(Pyl) pairs in the Escherichia coli BL21(DE3) cell strain. [PDF]

PLoS ONE, 2013
Systematic studies of nonsense and sense suppression of the original and three derivative Methanosarcina mazei PylRS-tRNA(Pyl) pairs and cross recognition between nonsense codons and various tRNA(Pyl) anticodons in the Escherichia coli BL21(DE3) cell ...
Keturah A Odoi, Ying Huang, Yohannes H Rezenom, Wenshe R Liu   +3 more
doaj   +1 more source

Biallelic Nonsense Variants in NEFL May Cause a Non-Length-Dependent Neuropathy With Temporal Dispersion on Nerve Conduction Studies. [PDF]

J Peripher Nerv Syst
ABSTRACT Background and Aims Pathogenic variants in NEFL, the gene that encodes the light polypeptide subunit of neurofilaments, are an uncommon cause of autosomal recessive Charcot‐Marie‐Tooth (CMT) disease. In this study, we describe the clinical and electrophysiological features of two families with early‐onset CMT carrying nonsense variants in the ...
da Silva Gomes MVV, Tomaselli PJ, Marques W.   +2 more
europepmc   +2 more sources

Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation

BMC Cancer, 2019
Background Nonsynonymous mutations change the protein sequences and are frequently subjected to natural selection. The same goes for nonsense mutations that introduce pre-mature stop codons into CDSs (coding sequences). Synonymous mutations, however, are
Duan Chu, Lai Wei
doaj   +1 more source

Recoding of Nonsense Mutation as a Pharmacological Strategy

Biomedicines, 2023
Approximately 11% of genetic human diseases are caused by nonsense mutations that introduce a premature termination codon (PTC) into the coding sequence. The PTC results in the production of a potentially harmful shortened polypeptide and activation of a
Gazmend Temaj, Pelin Telkoparan-Akillilar, Nexhibe Nuhii, Silvia Chichiarelli, Sarmistha Saha, Luciano Saso   +5 more
doaj   +1 more source

Facile characterization of translation initiation via nonsense codon suppression [PDF]

Nucleic Acids Research, 1999
A new strategy for studying the mechanism of translation initiation in eukaryotes has been developed. The strategy involves the use of an in vitro translation system to incorporate a non-natural fluorescent amino acid into a protein from a suppressor tRNAPheCUA misacylated with that amino acid.
A V, Karginov, M, Lodder, S M, Hecht
openaire   +2 more sources

Recognition of Nonsense Codons in Mammalian Cells [PDF]

Proceedings of the National Academy of Sciences, 1972
The tritiated trinucleotide UGA was used in a binding assay to detect transfer RNAs that recognize this nonsense codon from calf-liver cells. Acylation of transfer RNA with labeled amino acids and determination of codon responses of aminoacyl-tRNAs demonstrate that a species of seryl-tRNA and a species of arginyl-tRNA recognize the codon UGA.
openaire   +2 more sources

Future of the Genetic Code

Life, 2017
The methods for establishing synthetic lifeforms with rewritten genetic codes comprising non-canonical amino acids (NCAA) in addition to canonical amino acids (CAA) include proteome-wide replacement of CAA, insertion through suppression of nonsense codon,
Hong Xue, J. Tze-Fei Wong
doaj   +1 more source