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Results 1 to 25 of 801

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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

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

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeHOISCHEN, Alexander; VAN BON, Bregje W. M; NEWBURY-ECOB, Ruth et al.Nature genetics. 2011, Vol 43, Num 8, pp 729-731, issn 1061-4036, 3 p.Article

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4HHOULDEN, Henry; HAMMANS, Simon; KATIFI, Haider et al.Neurology. 2009, Vol 72, Num 7, pp 617-620, issn 0028-3878, 4 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

Regulation of transformation and the cell cycle by p53ZAMBETTI, G. P; QUARTIN, R. S; MARTINEZ, J et al.Cold Spring Harbor symposia on quantitative biology. 1991, Vol 56, pp 219-225, issn 0091-7451Conference Paper

Spontaneous mutation in β-thalassaemia producing the same nucleotide substitution as that in a common hereditary fromCHEHAB, F. F; HONIG, G. R; UET WAI KAN et al.Lancet (British edition). 1986, Num 8471, pp 3-5, issn 0140-6736Article

Inactivation of nonsense suppressor transfer RNA genes in Schizosaccharomyces pombe: intergenic conversion and hot spots of mutationHEYER, W.-D; MUNZ, P; SÖLL, D et al.Journal of molecular biology. 1986, Vol 188, Num 3, pp 343-353, issn 0022-2836Article

The context effect does not require a fourth base pairAYER, D; YARUS, M.Science (Washington, D.C.). 1986, Vol 231, Num 4736, pp 393-395, issn 0036-8075Article

Switching genes in Schizosaccharomyces pombe: their influence on cell viability and recombinationSCHMIDT, H; KAPITZA, P; GUTZ, H et al.Current genetics. 1987, Vol 11, Num 4, pp 303-308, issn 0172-8083Article

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

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 geneGRANDCHAMP, Bernard; HETET, Gilles; BALSER, Christina et al.Blood. 2011, Vol 118, Num 25, pp 6660-6666, issn 0006-4971, 7 p.Article

PTC124 targets genetic disorders caused by nonsense mutationsWELCH, Ellen M; BARTON, Elisabeth R; WILDE, Richard G et al.Nature (London). 2007, Vol 447, Num 7140, pp 87-91, issn 0028-0836, 5 p.Article

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C geneVAN ENGELEN, B. G. M; MUCHIR, A; HUTCHISON, C. J et al.Neurology. 2005, Vol 64, Num 2, pp 374-376, issn 0028-3878, 3 p.Article

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

Lipropotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase geneEMI, M; HATA, A; ROBERTSON, M et al.American journal of human genetics. 1990, Vol 47, Num 1, pp 107-111, issn 0002-9297, 5 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

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