Results 221 to 230 of about 199,160 (290)

Exploring the therapeutic potential of modulating nonsense-mediated mRNA decay. [PDF]

RNA
McMahon M, Maquat LE.
europepmc   +1 more source

Human Upf Proteins Target an mRNA for Nonsense-Mediated Decay When Bound Downstream of a Termination Codon

Cell, 2000
J. Lykke-Andersen, M. Shu, J. Steitz
semanticscholar   +1 more source

Combinatorial biosynthesis of novel gentamicin derivatives with nonsense mutation readthrough activity and low cytotoxicity. [PDF]

Front Pharmacol
Yang L, Zhai H, Tian T, Liu B, Ni X, Xia H.   +5 more
europepmc   +1 more source

Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late-Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families. [PDF]

Mol Genet Genomic Med
Zhang T, Wang W, Zhang L, He J.
europepmc   +1 more source

Molecular Genetic Analysis of a <i>DMD</i> Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing. [PDF]

Pharmgenomics Pers Med
Chen Q, Zhang W, Zha L.
europepmc   +1 more source

Mago nashi controls auxin‐mediated embryo patterning in Arabidopsis by regulating transcript abundance

New Phytologist, Volume 247, Issue 1, Page 14-23, July 2025.
Liping Liu, Wen Gong, Regina Stöckl, Philipp Denninger, Uwe Schwartz, Mark A. Johnson, Thomas Dresselhaus   +6 more
wiley   +1 more source

Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome. [PDF]

Diabetol Metab Syndr
Al-Amodi HS, Abdelbasit NA, Fatani SH, Taher MM, Mukhtar MM, Mohamed AS, Gameel AM, Kamel HFM, Abdelsattar S.   +8 more
europepmc   +1 more source

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing. [PDF]

Mol Genet Genomic Med
Kamps R, Martens H, de Koning B, Smeets B, van Geel M.   +4 more
europepmc   +1 more source

Case Report: A <i>FBN1</i> frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome. [PDF]

Front Cardiovasc Med
Su C, Zeng L, Lu H, Wang Z, Wei M.
europepmc   +1 more source

Nondefective rotavirus mutants with an NSP1 gene which has a deletion of 500 nucleotides, including a cysteine-rich zinc finger motif-encoding region (nucleotides 156 to 248), or which has a nonsense codon at nucleotides 153-155

Journal of Virology, 1996
K. Taniguchi, K. Kojima, S. Urasawa
semanticscholar   +1 more source