Results 81 to 90 of about 133,000 (265)

Unassigned Codons, Nonsense Suppression, and Anticodon Modifications in the Evolution of the Genetic Code [PDF]

Journal of Molecular Evolution, 2011
The origin of the genetic code is a central open problem regarding the early evolution of life. Here, we consider two undeveloped but important aspects of possible scenarios for the evolutionary pathway of the translation machinery: the role of unassigned codons in early stages of the code and the incorporation of tRNA anticodon modifications.
P.T.S. van der Gulik (Peter), W.D. Hoff (Wouter)   +1 more
openaire   +3 more sources

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Site‐Specific Protein Bioconjugation Through Cellular Incorporation of Noncanonical Amino Acids

Angewandte Chemie, EarlyView.
Genetic code expansion (GCE) enables site‐specific installation of noncanonical amino acids containing bioorthogonal conjugation handles, allowing precise, homogeneous protein modification. This review examines the principles of orthogonal translation, surveys the chemistries available for chemoselective labeling, and highlights emerging multi‐site ...
Rahul Sarkar, Manas Joshi, Abhishek Chatterjee   +2 more
wiley   +2 more sources

AAV-delivered engineered suppressor tRNA rescues visual function in mice with an inherited retinal disease

Nature Communications
Nonsense mutations change a sense codon into a premature termination codon (PTC) in mRNA and account for approximately 18.5% of human inherited retinal diseases (IRDs)-related mutation.
Chengda Ren, Li Song, Ming Hu, Xiu Jin, Licong Liang, Fanfei Liu, Jing Su, Jiamei Fu, Yiliu Yang, Man Liu, Qiuxia Xu, Xiaoyi Wu, Min Luo, Qin Ye, Qiqi Li, Yifang An, Manjun Li, Kaiqin She, Yuquan Wei, Fang Lu, Yang Yang   +20 more
doaj   +1 more source

The Effect of Mutation at Thr 295 of Saccharomyces cerevisiae eRF1 on Suppression of Nonsense Codons and eRF1 Structure

Microbiology Indonesia, 2008
The termination of translation in Saccharomyces cerevisiae is controlled by two interacting polypeptide chain release factors, eRF1, and eRF3. Two regions in eRF1, at position 281-305 and 411-415, were proposed to be involved on the interaction to eRF3 ...
PRIMA ENDANG SUSILOWATI, PINGKAN ADITIAWATI, FIDA MADAYANTI, . AKHMALOKA   +3 more
doaj   +1 more source

AUG sequences are required to sustain nonsense-codon-mediated suppression of splicing [PDF]

Nucleic Acids Research, 2006
More than 90% of human genes are rich in intronic latent 5' splice sites whose utilization in pre-mRNA splicing would introduce in-frame stop codons into the resultant mRNAs. We have therefore hypothesized that suppression of splicing (SOS) at latent 5' splice sites regulates alternative 5' splice site selection in a way that prevents the production of
Kamhi, Eyal, Yahalom, Galit, Kass, Gideon, Hacham, Yael, Sperling, Ruth, Sperling, Joseph   +5 more
openaire   +2 more sources

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report

Kidney Research and Clinical Practice, 2012
Vascular access thrombosis is one of the major causes of morbidity in patients maintained on chronic hemodialysis. Thrombophilia has been recognized as a risk factor of vascular access thrombosis.
Eun Jin Cho, Yong Chul Kim, Jin Ho Hwang, Hajung Lee, Sung Sup Park, So Yeon Kim, Suhnggwon Kim, Ho Jun Chin   +7 more
doaj   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs

Nucleic Acids Research, 1994
Nonsense suppressor tRNAs have been suggested as potential agents for human somatic gene therapy. Recent work from this laboratory has described significant effects of 3' codon context on the efficiency of human nonsense suppressors. A rapid increase in the number of reports of human diseases caused by nonsense codons, prompted us to determine how the ...
J, Atkinson, R, Martin
openaire   +3 more sources