Results 191 to 200 of about 270,897 (278)

Recognition of 3' nucleotide context and stop codon readthrough are determined during mRNA translation elongation. [PDF]

J Biol Chem, 2022
Biziaev N, Sokolova E, Yanvarev DV, Toropygin IY, Shuvalov A, Egorova T, Alkalaeva E.   +6 more
europepmc   +1 more source

Mosaic activation of the zebrafish hsp70l heat shock promoter: Implications for interpreting transgenes

Developmental Dynamics, EarlyView.
Abstract Background The promoters and enhancers of heat shock genes, such as the 1.5‐kb promoter of the zebrafish hsp70l gene, are valuable tools for temporal activation of transgenes. It has been widely purported that heat shock treatments result in ubiquitous expression of hsp70l‐driven transgenes.
Jong‐Su Park, Xiangyun Wei
wiley   +1 more source

Why Is the UAG (Amber) Stop Codon Almost Absent in Highly Expressed Bacterial Genes? [PDF]

Life (Basel), 2022
Belin D, Puigbò P.
europepmc   +1 more source

Widespread stop-codon recoding in bacteriophages may regulate translation of lytic genes. [PDF]

Nat Microbiol, 2022
Borges AL, Lou YC, Sachdeva R, Al-Shayeb B, Penev PI, Jaffe AL, Lei S, Santini JM, Banfield JF.   +8 more
europepmc   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene. [PDF]

Appl Clin Genet
Alghanem B, Alamri HS, Barhoumi T, Ali Khan I, Almuhalhil K, Aloyouni E, Shaibah H, Mashhour A, Algheribe S, Islam I, Boudjelal M, Alfadhel M.   +11 more
europepmc   +1 more source

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Targeted introduction of premature stop codon in plant mitochondrial mRNA by a designer pentatricopeptide repeat protein with C-to-U editing function. [PDF]

Plant J
Manavski N, Abdel-Salam E, Schwenkert S, Kunz HH, Brachmann A, Leister D, Meurer J.   +6 more
europepmc   +1 more source

Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules

, 2023
Toledano I, Supek F, Lehner B.
europepmc   +1 more source

A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study. [PDF]

Gastroenterol Hepatol Bed Bench, 2023
Khanabadi B, Najafgholizadeh Seyfi D, Rejali L, Taleghani MY, Tavallaei M, Shahrokh S, Daskar Abkenar E, Naderi Noukabadi F, Asadzadeh Aghdaei H, Nazemalhosseini Mojarad E.   +9 more
europepmc   +1 more source