A novel nonsense mutation in PAX9 is associated with sporadic hypodontiaJUNXIA ZHU; XIANG YANG; CHENYING ZHANG et al.Mutagenesis. 2012, Vol 27, Num 3, pp 313-317, issn 0267-8357, 5 p.Article

PGC-1α/β upregulation is associated with improved oxidative phosphorylation in cells harboring nonsense mtDNA mutationsSRIVASTAVA, Sarika; BARRETT, John N; MORAES, Carlos T et al.Human molecular genetics (Print). 2007, Vol 16, Num 8, pp 993-1005, issn 0964-6906, 13 p.Article

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9COHEN, Jonathan; PERTSEMLIDIS, Alexander; KOTOWSKI, Ingrid K et al.Nature genetics. 2005, Vol 37, Num 2, pp 161-165, issn 1061-4036, 5 p.Article

Converting nonsense codons into sense codons by targeted pseudouridylationKARIJOLICH, John; YU, Yi-Tao.Nature (London). 2011, Vol 474, Num 7351, pp 395-398, issn 0028-0836, 4 p.Article

A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone-Rod Synaptic DisorderLITTINK, Karin W; VAN GENDEREN, Maria M; DEN HOLLANDER, Anneke I et al.Investigative ophthalmology & visual science. 2009, Vol 50, Num 5, pp 2344-2350, issn 0146-0404, 7 p.Article

PYPAFf1 nonsense mutation in a patient with an unusual autoinflammatory syndrome : Role of PYPAF1 in inflammationJERU, I; HAYRAPETYAN, H; DUQUESNOY, P et al.Arthritis and rheumatism. 2006, Vol 54, Num 2, pp 508-514, issn 0004-3591, 7 p.Article

Maintenance of an open reading frame as an additional level of strutiny during splice site selectionDIETZ, H. C; KENDZIOR, R. J.Nature genetics. 1994, Vol 8, Num 2, pp 183-188, issn 1061-4036Article

Homozygous Nonsense Mutations in TWIST2 Cause Setleis SyndromeTUKEL, Turgut; SOSIC, Dražen; AL-GAZALI, Lihadh I et al.American journal of human genetics. 2010, Vol 87, Num 2, pp 289-296, issn 0002-9297, 8 p.Article

Novel isoforms of the CARDS (TUCAN) gene evade a nonsense mutationBAGNALL, Richard D; ROBERTS, Roland G; MIRZA, Muddassar M et al.European journal of human genetics. 2008, Vol 16, Num 5, pp 619-625, issn 1018-4813, 7 p.Article

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elementsDISSET, A; BOURGEOIS, C. F; BENMALEK, N et al.Human molecular genetics (Print). 2006, Vol 15, Num 6, pp 999-1013, issn 0964-6906, 15 p.Article

A novel nonsense mutation in kindler syndromeHAS, Cristina; BRUCKNER-TUDERMAN, Leena.Journal of investigative dermatology. 2004, Vol 122, Num 1, pp 84-86, issn 0022-202X, 3 p.Article

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humansVALLEIX, Sophie; NIEL, Florence; NEDELEC, Brigitte et al.American journal of human genetics. 2006, Vol 79, Num 2, pp 358-364, issn 0002-9297, 7 p.Article

Human-specific nonsense mutations identified by genome sequence comparisonsHAHN, Yoonsoo; LEE, Byungkook.Human genetics. 2006, Vol 119, Num 1-2, pp 169-178, issn 0340-6717, 10 p.Article

The missense errors in protein can be controlled by selective synonymous codon usage at the level of transcriptionKONOPKA, A. J; BRENDEL, V.Biochimie (Paris). 1985, Vol 67, Num 5, pp 469-473, issn 0300-9084Article

Aminoglycoside-induced translational read-through in disease : Overcoming nonsense mutations by pharmacogenetic therapyZINGMAN, L. V; PARK, S; OLSON, T. M et al.Clinical pharmacology and therapeutics. 2007, Vol 81, Num 1, pp 99-103, issn 0009-9236, 5 p.Article

Novel nonsense mutation causes analbuminemia in a Moroccan familyCAMPAGNOLI, Monica; SALA, Alberto; ROMANO, Assunta et al.Clinical chemistry (Baltimore, Md.). 2005, Vol 51, Num 1, pp 227-229, issn 0009-9147, 3 p.Article

Nonsense suppression in Lactococcus lactis : construction of a food-grade cloning vectorJOHANSEN, E; DICKELY, F; NILSSON, D et al.Developments in biological standardization. 1995, Num 85, pp 531-534, issn 0301-5149Conference Paper

Mutations to nonsense codons in human genetic disease : implications for gene therapy by nonsense suppressor tRNAsATKINSON, J; MARTIN, R.Nucleic acids research. 1994, Vol 22, Num 8, pp 1327-1334, issn 0305-1048Article

A nonsense mutation and exon skipping in the Fanconi anaemia group C geneGIBSON, R. A; HAJIANPOUR, A; MURER-ORLANDO, M et al.Human molecular genetics (Print). 1993, Vol 2, Num 6, pp 797-799, issn 0964-6906Article

Influence of codon context on UGA suppression and readthroughKOPELOWITZ, J; HAMPE, C; GOLDMAN, R et al.Journal of molecular biology. 1992, Vol 225, Num 2, pp 261-269, issn 0022-2836Article

Novel UGA-suppressors in Escherichia coli K-12ZHEN CHANG; INOKUCHI, H; OZEKI, H et al.Idengaku Zasshi. 1990, Vol 65, Num 2, pp 71-81, issn 0021-504X, 11 p.Article

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-BrauerGIEHL, Kathrin A; ECKSTEIN, Gertrud N; BRAUN-FALCO, Markus et al.American journal of human genetics. 2012, Vol 91, Num 4, pp 754-759, issn 0002-9297, 6 p.Article

Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) ExpressionHASSELBLATT, Martin; GESK, Stefan; SCHNEPPENHEIM, Reinhard et al.The American journal of surgical pathology. 2011, Vol 35, Num 6, pp 933-935, issn 0147-5185, 3 p.Article

A Case of Restrictive Dermopathy With Complete Chorioamniotic Membrane Separation Caused by a Novel Homozygous Nonsense Mutation in the ZMPSTE24 GeneMING CHEN; KUO, Hsiang-Hsu; CHEN, Chia-Hsiang et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 7, pp 1550-1554, issn 1552-4825, 5 p.Article

Compound heterozygous mutations in severe factor VII deficiency including a novel nonsense mutationLEE, Sun-Min; HEO, Yong-Seok; LEE, Eun-Yup et al.Blood coagulation & fibrinolysis. 2008, Vol 19, Num 1, pp 92-94, issn 0957-5235, 3 p.Article