Nonsense-mediated decay in genetic disease: friend or foe?
暂无分享,去创建一个
[1] F. Brito. Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases , 2014 .
[2] A. Drack,et al. A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis , 2013, Journal of child neurology.
[3] D. Pearce,et al. A Novel c.776_777insA Mutation in CLN1 Leads to Infantile Neuronal Ceroid Lipofuscinosis , 2013, Journal of child neurology.
[4] D. Pearce,et al. The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. , 2013, Human molecular genetics.
[5] J. Rosenfeld,et al. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. , 2013, Human molecular genetics.
[6] D. Bedwell,et al. Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression , 2013, PloS one.
[7] A. Goris,et al. Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. , 2013, Human molecular genetics.
[8] M. Wilkinson,et al. Regulation of nonsense‐mediated mRNA decay , 2012, Wiley interdisciplinary reviews. RNA.
[9] J. Dougherty,et al. Pharmaceutical therapies to recode nonsense mutations in inherited diseases. , 2012, Pharmacology & therapeutics.
[10] Allan Jacobson,et al. NMD: a multifaceted response to premature translational termination , 2012, Nature Reviews Molecular Cell Biology.
[11] M. Jung,et al. Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy. , 2012, Human molecular genetics.
[12] D. Bedwell,et al. Suppression of premature termination codons as a therapeutic approach , 2012, Critical reviews in biochemistry and molecular biology.
[13] E. Grzybowska,et al. Human intronless genes: functional groups, associated diseases, evolution, and mRNA processing in absence of splicing. , 2012, Biochemical and biophysical research communications.
[14] Anders Krogh,et al. Mammalian tissues defective in nonsense-mediated mRNA decay display highly aberrant splicing patterns , 2012, Genome Biology.
[15] L. Maquat,et al. Regulation of cytoplasmic mRNA decay , 2012, Nature Reviews Genetics.
[16] T. Visser,et al. Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense‐mediated decay , 2012, Clinical endocrinology.
[17] J. Hebebrand,et al. Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside‐Mediated Read‐Through , 2012, Obesity.
[18] L. Maquat,et al. Regulation of cytoplasmic mRNA decay , 2012, Nature Reviews Genetics.
[19] Vidya Balagopal,et al. Ways and means of eukaryotic mRNA decay. , 2012, Biochimica et biophysica acta.
[20] T. Morio,et al. Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia‐telangiectasia , 2012, Human mutation.
[21] M. Okoniewski,et al. Autoregulation of the nonsense-mediated mRNA decay pathway in human cells. , 2011, RNA.
[22] D. Rosskopf,et al. Aminoglycoside-induced suppression of CYP2C19*3 premature stop codon , 2011, Pharmacogenetics and genomics.
[23] A. Mukherjee,et al. Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients. , 2011, Molecular genetics and metabolism.
[24] D. Bedwell,et al. Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases , 2011, Wiley interdisciplinary reviews. RNA.
[25] F. Hirahara,et al. N- and C-terminal Upf1 phosphorylations create binding platforms for SMG-6 and SMG-5:SMG-7 during NMD , 2011, Nucleic acids research.
[26] E. Stone,et al. RNA homeostasis governed by cell type-specific and branched feedback loops acting on NMD. , 2011, Molecular cell.
[27] L. Maquat,et al. Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question. , 2011, Current opinion in genetics & development.
[28] Z. Bebők,et al. Suppression of CFTR premature termination codons and rescue of CFTR protein and function by the synthetic aminoglycoside NB54 , 2011, Journal of Molecular Medicine.
[29] N. Amariglio,et al. Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations , 2011, PloS one.
[30] H. Dietz,et al. Perturbation of thymocyte development in nonsense-mediated decay (NMD)-deficient mice , 2011, Proceedings of the National Academy of Sciences.
[31] Rachid Karam,et al. Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay. , 2011, Molecular cell.
[32] J. Hacia,et al. Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations , 2011, Journal of cellular biochemistry.
[33] Jung-Eun Park,et al. Altered microRNA regulation in Huntington's disease models , 2011, Experimental Neurology.
[34] M. Bennett,et al. PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation , 2011, Journal of Inherited Metabolic Disease.
[35] U. Wolfrum,et al. PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C. , 2011, Human gene therapy.
[36] J. Lykke-Andersen,et al. Upf1 ATPase-Dependent mRNP Disassembly Is Required for Completion of Nonsense- Mediated mRNA Decay , 2010, Cell.
[37] P. Huppke,et al. Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model , 2010, Journal of Molecular Medicine.
[38] F. Vermeulen,et al. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. , 2010, American journal of respiratory and critical care medicine.
[39] J. Eubanks,et al. Aminoglycoside‐mediated partial suppression of MECP2 nonsense mutations responsible for Rett syndrome in vitro , 2010, Journal of neuroscience research.
[40] L. Maquat,et al. UPF1 association with the cap-binding protein, CBP80, promotes nonsense-mediated mRNA decay at two distinct steps. , 2010, Molecular cell.
[41] L. Maquat,et al. The Pioneer Round of Translation: Features and Functions , 2010, Cell.
[42] C. Seoighe,et al. Heritability in the Efficiency of Nonsense-Mediated mRNA Decay in Humans , 2010, PloS one.
[43] J. Mendell,et al. Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy , 2010, Annals of neurology.
[44] V. Belakhov,et al. Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. , 2010, Bioorganic & medicinal chemistry.
[45] Yoon Ki Kim,et al. Nonsense‐mediated translational repression involves exon junction complex downstream of premature translation termination codon , 2010, FEBS letters.
[46] Rosa Bartolomeo,et al. Mucopolysaccharidosis , 2009, Radiopaedia.org.
[47] R. Damoiseaux,et al. Nonaminoglycoside compounds induce readthrough of nonsense mutations , 2009, The Journal of experimental medicine.
[48] H. Peters,et al. Stop codon read-through of a methylmalonic aciduria mutation. , 2009, Molecular genetics and metabolism.
[49] J. Gécz,et al. A UPF3-mediated regulatory switch that maintains RNA surveillance , 2009, Nature Structural &Molecular Biology.
[50] J. Schacht,et al. Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. , 2009, Journal of medicinal chemistry.
[51] P. Huppke,et al. Suppression of Nonsense Mutations in Rett Syndrome by Aminoglycoside Antibiotics , 2009, Pediatric Research.
[52] M. Bashyam. Nonsense-mediated decay: linking a basic cellular process to human disease , 2009, Expert review of molecular diagnostics.
[53] D. Bedwell,et al. Poly-l-aspartic Acid Enhances and Prolongs Gentamicin-mediated Suppression of the CFTR-G542X Mutation in a Cystic Fibrosis Mouse Model* , 2009, Journal of Biological Chemistry.
[54] Melissa J. Moore,et al. Pre-mRNA Processing Reaches Back toTranscription and Ahead to Translation , 2009, Cell.
[55] H. Houlden,et al. A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H , 2009, Neurology.
[56] D. Bartel. MicroRNAs: Target Recognition and Regulatory Functions , 2009, Cell.
[57] Olga Anczuków,et al. Comparison of nonsense-mediated mRNA decay efficiency in various murine tissues , 2008, BMC Genetics.
[58] S. Booth,et al. A miRNA Signature of Prion Induced Neurodegeneration , 2008, PloS one.
[59] N. Rajewsky,et al. Widespread changes in protein synthesis induced by microRNAs , 2008, Nature.
[60] D. Bartel,et al. The impact of microRNAs on protein output , 2008, Nature.
[61] O. Mühlemann,et al. Recognition and elimination of nonsense mRNA. , 2008, Biochimica et biophysica acta.
[62] Matthew Mort,et al. A meta‐analysis of nonsense mutations causing human genetic disease , 2008, Human mutation.
[63] D. Geschwind,et al. Heterogeneous dysregulation of microRNAs across the autism spectrum , 2008, neurogenetics.
[64] P. Corn,et al. Hypoxic regulation of mRNA expression , 2008, Cell cycle.
[65] L. Maquat,et al. Upf1 Phosphorylation Triggers Translational Repression during Nonsense-Mediated mRNA Decay , 2008, Cell.
[66] Lawrence B. Gardner. Hypoxic Inhibition of Nonsense-Mediated RNA Decay Regulates Gene Expression and the Integrated Stress Response , 2008, Molecular and Cellular Biology.
[67] Jacqueline T Tan,et al. Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3' UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia. , 2008, American journal of human genetics.
[68] H. Zentgraf,et al. Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia , 2008, Journal of Molecular Medicine.
[69] S. Peltz,et al. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model , 2008, Proceedings of the National Academy of Sciences.
[70] J. Rousset,et al. Drug‐induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes , 2008, The journal of gene medicine.
[71] T. Desmettre,et al. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. , 2007, The New England journal of medicine.
[72] J. Lupski,et al. Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. , 2007, Human molecular genetics.
[73] A. Wilkie,et al. Nonsense‐mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3 , 2007, American journal of medical genetics. Part A.
[74] Roy Parker,et al. RNA Quality Control in Eukaryotes , 2007, Cell.
[75] S. Sommer,et al. A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin , 2007, Proceedings of the National Academy of Sciences.
[76] J. Tazi,et al. Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies , 2007, The Journal of cell biology.
[77] M Claustres,et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. , 2007, American journal of human genetics.
[78] J. Gécz,et al. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation , 2007, Nature Genetics.
[79] G. Hannon,et al. A MicroRNA Feedback Circuit in Midbrain Dopamine Neurons , 2007, Science.
[80] Z. Ahmed,et al. In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome , 2007, Human Genetics.
[81] B. Kerem,et al. The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells , 2007, European Journal of Human Genetics.
[82] U. Suter,et al. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. , 2007, American journal of human genetics.
[83] M. Hentze,et al. The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway , 2007, Nucleic acids research.
[84] D. Cane,et al. The nonsense-mediated decay RNA surveillance pathway. , 2007, Annual review of biochemistry.
[85] J. Clancy,et al. Restoration of W1282X CFTR activity by enhanced expression. , 2007, American journal of respiratory cell and molecular biology.
[86] Meenal Patel,et al. PTC124 targets genetic disorders caused by nonsense mutations , 2007, Nature.
[87] M. Wilkinson,et al. An alternative branch of the nonsense‐mediated decay pathway , 2007, The EMBO journal.
[88] B. Kerem,et al. Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. , 2007, The Journal of clinical investigation.
[89] W. Lukiw,et al. Micro-RNA speciation in fetal, adult and Alzheimer's disease hippocampus , 2007, Neuroreport.
[90] T. Baasov,et al. Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations. , 2006, Bioorganic & medicinal chemistry letters.
[91] C. Simone,et al. A homozygous frameshift mutation in the ESCO2 gene: Evidence of intertissue and interindividual variation in Nmd efficiency , 2006, Journal of cellular physiology.
[92] A. Yamashita,et al. Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of Ullrich disease fibroblasts. , 2006, Molecular therapy : the journal of the American Society of Gene Therapy.
[93] D. Brooks,et al. Stop-codon read-through for patients affected by a lysosomal storage disorder. , 2006, Trends in molecular medicine.
[94] David Tollervey,et al. RNA-quality control by the exosome , 2006, Nature Reviews Molecular Cell Biology.
[95] J. Lupski,et al. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease , 2006, European Journal of Human Genetics.
[96] D. Bedwell,et al. Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model , 2006, Journal of Molecular Medicine.
[97] G. Dreyfuss,et al. Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. , 2006, Genes & development.
[98] J. Leggo,et al. Aminoglycoside suppression of nonsense mutations in severe hemophilia. , 2005, Blood.
[99] Jingchun Sun,et al. Relationships Among Stop Codon Usage Bias, Its Context, Isochores, and Gene Expression Level in Various Eukaryotes , 2005, Journal of Molecular Evolution.
[100] V. Petruzzella,et al. Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants , 2005, FEBS letters.
[101] L. Maquat,et al. Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. , 2005, Current opinion in cell biology.
[102] C. Lorson,et al. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. , 2005, Human molecular genetics.
[103] E. Zackai,et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. , 2005, American journal of human genetics.
[104] M. Wilkinson. A new function for nonsense-mediated mRNA-decay factors. , 2005, Trends in genetics : TIG.
[105] Luc DesGroseillers,et al. Mammalian Staufen1 Recruits Upf1 to Specific mRNA 3′UTRs so as to Elicit mRNA Decay , 2005, Cell.
[106] R. Gatti,et al. Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[107] Francisco Martinez-Murillo,et al. Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise , 2004, Nature Genetics.
[108] V. Ambros. The functions of animal microRNAs , 2004, Nature.
[109] M. Hentze,et al. Nonsense-mediated decay approaches the clinic , 2004, Nature Genetics.
[110] P. D. de Jong,et al. Does autosomal dominant pseudoxanthoma elasticum exist? , 2004, American journal of medical genetics. Part A.
[111] P. Byers,et al. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. , 2004, American journal of human genetics.
[112] D. Sillence,et al. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. , 2004, Journal of molecular biology.
[113] J. Rousset,et al. Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment , 2004, Gene Therapy.
[114] B. Lévy,et al. Absence of Dystrophin in Mice Reduces NO-Dependent Vascular Function and Vascular Density: Total Recovery After a Treatment with the Aminoglycoside Gentamicin , 2004, Arteriosclerosis, thrombosis, and vascular biology.
[115] J. Lupski,et al. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations , 2004, Nature Genetics.
[116] Uwe Fass,et al. Readthrough of dystrophin stop codon mutations induced by aminoglycosides , 2004, Annals of neurology.
[117] D. Bartel. MicroRNAs Genomics, Biogenesis, Mechanism, and Function , 2004, Cell.
[118] Isabelle Hatin,et al. The major 5' determinant in stop codon read-through involves two adjacent adenines. , 2004, Nucleic acids research.
[119] K. Anders,et al. Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7. , 2003, Molecular cell.
[120] T. Nazarenus,et al. Genetic background affects relative nonsense mRNA accumulation in wild-type and upf mutant yeast strains , 2003, Current Genetics.
[121] R. Savarirayan,et al. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. , 2003, Human molecular genetics.
[122] M. Hayden,et al. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred , 2003, Annals of neurology.
[123] D. Stoppa-Lyonnet,et al. The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. , 2002, Human molecular genetics.
[124] Uta Francke,et al. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. , 2002, American journal of human genetics.
[125] M. Evans,et al. Aminoglycoside suppression of a premature stop mutation in a Cftr–/– mouse carrying a human CFTR-G542X transgene , 2002, Journal of Molecular Medicine.
[126] T. Maniatis,et al. An extensive network of coupling among gene expression machines , 2002, Nature.
[127] M. Pusch. Myotonia caused by mutations in the muscle chloride channel gene CLCN1 , 2002, Human mutation.
[128] M. Hentze,et al. The human intronless melanocortin 4-receptor gene is NMD insensitive. , 2002, Human Molecular Genetics.
[129] D. Bedwell,et al. Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUAand P53 cDNAs in a mammalian translation system , 2002, Journal of Molecular Medicine.
[130] M. Strazzabosco,et al. Correction of CFTR malfunction and stimulation of Ca2+‐activated Cl− channels restore HCO 3− secretion in cystic fibrosis bile ductular cells , 2002, Hepatology.
[131] M. Pericak-Vance,et al. Erratum: The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis (Nature Genetics (2001) 29 (160-165)) , 2001 .
[132] C. Rivolta,et al. Dominant Leber congenital amaurosis, cone‐rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX , 2001, Human mutation.
[133] M. Pericak-Vance,et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis , 2001, Nature Genetics.
[134] Caroline A. Sewry,et al. Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? , 2001, Human Genetics.
[135] J. Clancy,et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. , 2001, American journal of respiratory and critical care medicine.
[136] J. Alonso,et al. Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: Phenotypic and molecular epidemiological implications , 2001, Human mutation.
[137] J. Oldenburg,et al. Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease. , 2001, Blood.
[138] L. Maquat,et al. Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay. , 2001, RNA.
[139] J. Thompson,et al. Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. , 2001, Human molecular genetics.
[140] S. Mundlos,et al. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. , 2000, American journal of human genetics.
[141] K. Flanigan,et al. Sequence specificity of aminoglycoside‐induced stop codon readthrough: Potential implications for treatment of Duchenne muscular dystrophy , 2000, Annals of neurology.
[142] M. Swift,et al. Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. , 2000, American journal of medical genetics.
[143] D. Cooper,et al. Molecular analysis of the genotype-phenotype relationship in factor VII deficiency , 2000, Human Genetics.
[144] H. Sweeney,et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. , 1999, The Journal of clinical investigation.
[145] P. Ray,et al. Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations , 1999, Human Genetics.
[146] J. Yates,et al. Clinical and molecular genetics of Stickler syndrome , 1999, Journal of medical genetics.
[147] S. Dorman,et al. A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection , 1999, Nature Genetics.
[148] M Krawczak,et al. Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. , 1998, American journal of human genetics.
[149] L. Maquat,et al. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. , 1998, Trends in biochemical sciences.
[150] J. Clancy,et al. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line , 1997, Nature Medicine.
[151] W. Reardon,et al. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. , 1997, Human molecular genetics.
[152] M. Newport,et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. , 1996, The New England journal of medicine.
[153] M. Carter,et al. A splicing‐dependent regulatory mechanism that detects translation signals. , 1996, The EMBO journal.
[154] M. Willing,et al. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. , 1996, American journal of human genetics.
[155] J. Lupski,et al. Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination , 1996, Neuron.
[156] D. Bedwell,et al. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations , 1996, Nature Medicine.
[157] G. Abou-Alfa,et al. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. , 1996, The Journal of clinical investigation.
[158] Daniel N. Wilson,et al. Translational termination efficiency in both bacteria and mammals is regulated by the base following the stop codon. , 1995, Biochemistry and cell biology = Biochimie et biologie cellulaire.
[159] S. Thein,et al. Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia. , 1994, Blood.
[160] V. Ambros,et al. The C. elegans heterochronic gene lin-4 encodes small RNAs with antisense complementarity to lin-14 , 1993, Cell.
[161] C. Raetz,et al. Partial phenotypic suppression of a peroxisome-deficient animal cell mutant treated with aminoglycoside G418. , 1992, The Journal of biological chemistry.
[162] T. L. McGee,et al. A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa , 1992, Nature Genetics.
[163] C. M. Davenport,et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[164] J. Clegg,et al. Molecular basis for dominantly inherited inclusion body beta-thalassemia. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[165] S. Baserga,et al. Nonsense mutations in the human beta-globin gene affect mRNA metabolism. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[166] D. Housman,et al. Absence of Messenger RNA for Beta Globin Chain in β°-Thalassaemia , 1974, Nature.
[167] D. Bedwell,et al. The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse. , 2012, Molecular genetics and metabolism.
[168] M. Wilkinson,et al. © 2012 Landes Bioscience. Do not distribute. A conserved microRNA/NMD regulatory circuit controls gene expression , 2012 .
[169] Richard J Jackson,et al. Termination and post-termination events in eukaryotic translation. , 2012, Advances in protein chemistry and structural biology.
[170] M. Tanner,et al. Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells. , 2002, Blood.
[171] D. Sleat,et al. Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. , 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[172] D. Cooper,et al. Molecular analysis of the genotype-phenotype relationship in factor X deficiency , 2000, Human Genetics.
[173] H. Dietz,et al. Nonsense-mediated mRNA decay in health and disease. , 1999, Human molecular genetics.
[174] L. Ala‐Kokko,et al. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. , 1998, American journal of human genetics.
[175] R. Myerowitz. Tay‐Sachs disease‐causing mutations and neutral polymorphisms in the Hex A gene , 1997, Human mutation.
[176] D. Housman,et al. Absence of messenger RNA for beta globin chain in beta(0) thalassaemia. , 1974, Nature.