Results 51 to 60 of about 204,351 (287)

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7 [PDF]

, 2016
Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back ...
Back, Willem, Bastiaansen, John WM, Boegheim, Iris J, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter A, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van de Goor, Leanne H, van Steenbeek, Frank G, Vos-Loohuis, Manon   +12 more
core   +8 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

Evolution of termination codons of proteins and the TAG-TGA paradox

Scientific Reports, 2023
In most eukaryotes and prokaryotes TGA is used at a significantly higher frequency than TAG as termination codon of protein-coding genes. Although this phenomenon has been recognized several years ago, there is no generally accepted explanation for the ...
Mária Trexler, László Bányai, Krisztina Kerekes, László Patthy   +3 more
doaj   +1 more source

Identification of novel post-transcriptional features in olfactory receptor family mRNAs. [PDF]

, 2015
Olfactory receptor (Olfr) genes comprise the largest gene family in mice. Despite their importance in olfaction, how most Olfr mRNAs are regulated remains unexplored.
Espinoza, Josh L, Ramaiah, Madhuvanthi, Shum, Eleen Y, Wilkinson, Miles F   +3 more
core   +1 more source

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population [PDF]

, 2020
Objectives: The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD.
Arweiler-Harbeck, Begovich, Brama, Cabrera, Campbell, de Lima, Doi, Dong, Eichler, Filipo, Flook, Foster, Frejo, Frejo, Frejo, Furuta, Gallego-Martinez, Gazquez, Gazquez, Girirajan, Greco, Hietikko, Huang, Kawaguchi, Khorsandi, Kim, Kimura, Klar, Koo, Lee, Lee, Lee, Lee, Lettre, Li, Li, Lien, Lien, Liew, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Lopez-Escamez, Marcus, Martín-Sierra, Martín-Sierra, Melchiorri, Meng, Morrison, Mustelin, Nair, Nair, Nair, Nishio, Oliveira-Paula, Qin, Rasheed, Rauch, Recupero, Reich, Rentzsch, Requena, Requena, Requena, Requena, Roman-Naranjo, Saint Pierre, Schwanitz, Shu, Sun, Takumida, Teggi, Teggi, Teggi, Teranishi, Tilburg, Tomoda, Uchida, Vrabec, Yang, Yazdani, Yazdani   +81 more
core   +1 more source

Ataluren and aminoglycosides stimulate read-through of nonsense codons by orthogonal mechanisms [PDF]

Proceedings of the National Academy of Sciences, 2021
Significance Nonsense mutations giving rise to premature stop codons (PSCs) cause many diseases, creating the need to develop safe and effective translational read-through–inducing drugs (TRIDs). The current best-characterized TRIDs are ataluren and aminoglycosides. Only ataluren has been approved for clinical use, albeit in a limited context.
Martin Y. Ng, Hong Li, Mikel D. Ghelfi, Yale E. Goldman, Barry S. Cooperman   +4 more
openaire   +2 more sources

CRISPR-induced exon skipping is dependent on premature termination codon mutations

Genome Biology, 2018
In previous studies, CRISPR/Cas9 was shown to induce unexpected exon skipping; however, the mechanism by which this phenomenon is triggered is controversial.
Tingting Sui, Yuning Song, Zhiquan Liu, Mao Chen, Jichao Deng, Yuanyuan Xu, Liangxue Lai, Zhanjun Li   +7 more
doaj   +1 more source

Binary specification of nonsense codons by splicing and cytoplasmic translation [PDF]

The EMBO Journal, 1998
Premature translation termination codons resulting from nonsense or frameshift mutations are common causes of genetic disorders. Complications arising from the synthesis of C-terminally truncated polypeptides can be avoided by 'nonsense-mediated decay' of the mutant mRNAs.
R, Thermann, G, Neu-Yilik, A, Deters, U, Frede, K, Wehr, C, Hagemeier, M W, Hentze, A E, Kulozik   +7 more
openaire   +2 more sources

Genetic Encoding of Three Distinct Noncanonical Amino Acids Using Reprogrammed Initiator and Nonsense Codons

bioRxiv, 2020
We recently described an orthogonal initiator tRNA (itRNATy2) that can initiate protein synthesis with noncanonical amino acids (ncAAs) in response to the UAG nonsense codon. Here we report that a mutant of itRNATy2 (itRNATy2AUA) can efficiently initiate
Jeffery M. Tharp, O. Vargas-Rodriguez, A. Schepartz, D. Söll   +3 more
semanticscholar   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source