Results 231 to 240 of about 204,351 (287)

Statistical Genetics of <i>DMD</i> Gene Mutations in a Kazakhstan Cohort: MLPA/NGS Variant Validation and Genotype-Phenotype Modelling. [PDF]

Genes (Basel)
Moldakaryzova A, Dautov D, Khaidarov S, Ossikbayeva S, Kaidarova D.   +4 more
europepmc   +1 more source

Mice carrying nonsense mutant p53 develop frequent multicentric or metastatic tumors. [PDF]

Cell Death Dis
Strandgren C, Rondahl V, Oppelt AS, Öhlin S, Heldin A, Wiman KG.   +5 more
europepmc   +1 more source

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish [PDF]

, 2017
Gao, Meng, Hu, Xuebin, Jiang, Tao, Li, Chang, Liu, Fei, Liu, Jing Yu, Liu, Mugen, Liu, Xiliang, Lu, Zhaojing, Shu, Xinhua, Soares, Dinesh C., Tang, Zhaohui, Weng, Jun, Xiao, Qing, Yang, Lifang, Yu, Shanshan   +15 more
core   +1 more source

Codon specific readthrough as a mechanism of BRCA2 restoration in acquired PARP inhibitor and chemotherapy resistance. [PDF]

Nucleic Acids Res
McGehee CD, Meng XW, Wu X, Correia C, Venkatachalam A, Flatten KS, Peterson KL, Patel AG, Rossman OK, Wong C, Hurley RM, Wagner JM, Schneider PA, Dai H, Poirier GG, Hendrickson AEW, Swisher EM, Pandey A, Li H, Kaufmann SH.   +19 more
europepmc   +1 more source

Selenium Deficiency Reduces the Abundance of mRNA for Se-Dependent Glutathione Peroxidase 1 by a UGA-Dependent Mechanism Likely To Be Nonsense Codon-Mediated Decay of Cytoplasmic mRNA

Molecular and Cellular Biology, 1998
P. M. Moriarty, C. Channa Reddy, Lynne E. Maquat   +2 more
semanticscholar   +1 more source

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies. [PDF]

Genes (Basel)
Chrysostomaki M, Chatzi D, Kyriakoudi SA, Meditskou S, Manthou ME, Gargani S, Theotokis P, Dermitzakis I.   +7 more
europepmc   +1 more source

A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis. [PDF]

BMC Med Genomics
Mohsenipour M, Nejati P, Khosravi T, Alimoradi E, Salehi M, Oladnabi M, Alibakhshi R.   +6 more
europepmc   +1 more source

Human α2‐globin nonsense‐mediated mRNA decay induced by a novel α‐thalassaemia frameshift mutation at codon 22

, 2006
F. J. Pereira, Maria do Céu Silva, I. Picanço, M. T. Seixas, A. Ferrão, P. Faustino, L. Romão   +6 more
semanticscholar   +1 more source

Nonsense-Mediated mRNA Decay: Mechanisms and Recent Implications in Cardiovascular Diseases. [PDF]

Cells
Hassan FO, Hoque MM, Majid A, Gbadegoye JO, Raafat A, Lebeche D.   +5 more
europepmc   +1 more source