Results 231 to 240 of about 199,160 (290)

A spectrum of nonsense-mediated mRNA decay efficiency along the degree of mutational constraint. [PDF]

Commun Biol
Kim YG, Kang H, Lee B, Jang HJ, Park JH, Ha C, Park H, Kim JW.   +7 more
europepmc   +1 more source

Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance

Molecular and Cellular Biology, 1994
Jiu Cheng, P. Belgrader, Xianbo Zhou, Lynne E. Maquat   +3 more
semanticscholar   +1 more source

Rapid Deadenylation Triggered by a Nonsense Codon Precedes Decay of the RNA Body in a Mammalian Cytoplasmic Nonsense-Mediated Decay Pathway

Molecular and Cellular Biology, 2003
Chyi-Ying A. Chen, A. Shyu
semanticscholar   +1 more source

A novel KDM5C mutation associated with intellectual disability: molecular mechanisms and clinical implications. [PDF]

Ital J Pediatr
Meng Y, Wang X, Liu K, Tang X, Li H, Chen J, Zhong Z.   +6 more
europepmc   +1 more source

Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene.

Proceedings of the National Academy of Sciences of the United States of America, 1991
Tomoyuki Matsunaga, Y. Hiasa, H. Yanagi, Toshihiro Maeda, N. Hattori, K. Yamakawa, Y. Yamanouchi, Isao Tanaka, T. Obara, H. Hamaguchi   +9 more
semanticscholar   +1 more source

StopKB: a comprehensive knowledgebase for nonsense suppression therapies. [PDF]

Database (Oxford)
Haas N, Thompson JD, Renaud JP, Chennen K, Poch O.   +4 more
europepmc   +1 more source

A compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome. [PDF]

J Ovarian Res
Wang X, Liu Y, Yuan G, Yang J, Liu X, Chen S, Dou H, Lu P, Han L, Li D, Hao C.   +10 more
europepmc   +1 more source

Lost in Transition: Challenges in the Journey from Pediatric to Adult Care for a Romanian <i>DMD</i> Patient. [PDF]

Healthcare (Basel)
Lupu M, Marcu MA, Epure DA, Vladacenco OA, Severin EM, Teleanu RI.   +5 more
europepmc   +1 more source

Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway. [PDF]

J Cell Mol Med
Hong Z, Xiang S, Chen Z, Qiu X, Zhang L, Ma L, Wang M.   +6 more
europepmc   +1 more source