Published in Cell on November 16, 2001
New microRNAs from mouse and human. RNA (2003) 10.35
The ribosome filter hypothesis. Proc Natl Acad Sci U S A (2002) 2.64
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer. Genes Dev (2002) 2.61
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet (2006) 1.85
IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet (2007) 1.77
Genome-wide suppression of aberrant mRNA-like noncoding RNAs by NMD in Arabidopsis. Proc Natl Acad Sci U S A (2009) 1.60
Rapid deadenylation triggered by a nonsense codon precedes decay of the RNA body in a mammalian cytoplasmic nonsense-mediated decay pathway. Mol Cell Biol (2003) 1.60
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet (2004) 1.57
Genome-wide double-stranded RNA sequencing reveals the functional significance of base-paired RNAs in Arabidopsis. PLoS Genet (2010) 1.56
Impact of nonsense-mediated mRNA decay on the global expression profile of budding yeast. PLoS Genet (2006) 1.55
Transcript-selective translational silencing by gamma interferon is directed by a novel structural element in the ceruloplasmin mRNA 3' untranslated region. Mol Cell Biol (2003) 1.53
A GFP-based reporter system to monitor nonsense-mediated mRNA decay. Nucleic Acids Res (2005) 1.49
Efficient downregulation of immunoglobulin mu mRNA with premature translation-termination codons requires the 5'-half of the VDJ exon. Nucleic Acids Res (2004) 1.38
HLA-G allelic variants are associated with differences in the HLA-G mRNA isoform profile and HLA-G mRNA levels. Immunogenetics (2003) 1.38
Nonaminoglycoside compounds induce readthrough of nonsense mutations. J Exp Med (2009) 1.31
An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Genome Res (2006) 1.25
Using microarrays to facilitate positional cloning: identification of tomosyn as an inhibitor of neurosecretion. PLoS Genet (2005) 1.25
Ataluren as an agent for therapeutic nonsense suppression. Annu Rev Med (2012) 1.24
The roles of TTP and BRF proteins in regulated mRNA decay. Wiley Interdiscip Rev RNA (2011) 1.24
Conserved sequence elements associated with exon skipping. Nucleic Acids Res (2003) 1.23
Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol (2010) 1.23
Unspliced Rous sarcoma virus genomic RNAs are translated and subjected to nonsense-mediated mRNA decay before packaging. J Virol (2004) 1.21
Macrophage migration inhibitory factor in acute lung injury: expression, biomarker, and associations. Transl Res (2007) 1.21
SVA retrotransposons: Evolution and genetic instability. Semin Cancer Biol (2010) 1.20
Nuclear translation: what is the evidence? RNA (2003) 1.19
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet (2010) 1.18
The mRNA decay factor tristetraprolin (TTP) induces senescence in human papillomavirus-transformed cervical cancer cells by targeting E6-AP ubiquitin ligase. Aging (Albany NY) (2009) 1.14
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients. Mol Genet Metab (2011) 1.13
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet (2005) 1.11
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Mol Psychiatry (2011) 1.07
Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors. PLoS Biol (2007) 1.04
Deficiency of the tensin2 gene in the ICGN mouse: an animal model for congenital nephrotic syndrome. Mamm Genome (2006) 1.04
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. Am J Hum Genet (2002) 1.04
The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD). Nucleic Acids Res (2006) 1.03
Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. J Appl Physiol (1985) (2010) 1.02
Bioinformatics and variability in drug response: a protein structural perspective. J R Soc Interface (2012) 1.01
The Icelandic founder mutation BRCA2 999del5: analysis of expression. Breast Cancer Res (2004) 0.98
X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation. Genome Res (2007) 0.96
Nonsense codons trigger an RNA partitioning shift. J Biol Chem (2008) 0.96
Premature termination codons do not affect the rate of splicing of neighboring introns. RNA (2004) 0.95
Natural selection affects frequencies of AG and GT dinucleotides at the 5' and 3' ends of exons. Genetics (2004) 0.94
Osteonectin/SPARC polymorphisms in Caucasian men with idiopathic osteoporosis. Osteoporos Int (2007) 0.94
Accentuated osteoclastic response to parathyroid hormone undermines bone mass acquisition in osteonectin-null mice. Bone (2008) 0.93
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. Hum Mol Genet (2014) 0.92
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. Mol Ther (2013) 0.92
A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse. Am J Pathol (2012) 0.91
Human SP-A1 (SFTPA1) variant-specific 3' UTRs and poly(A) tail differentially affect the in vitro translation of a reporter gene. Am J Physiol Lung Cell Mol Physiol (2010) 0.91
Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator. Expert Rev Proteomics (2010) 0.89
Deletion in a (T)8 microsatellite abrogates expression regulation by 3'-UTR. Nucleic Acids Res (2003) 0.88
Quantitative trait loci associated with elevated thyroid-stimulating hormone in the Wistar-Kyoto rat. Endocrinology (2004) 0.88
Optimal guideRNAs for re-directing deaminase activity of hADAR1 and hADAR2 in trans. Nucleic Acids Res (2014) 0.87
Toward a systematic understanding of mRNA 3' untranslated regions. Proc Am Thorac Soc (2011) 0.87
New and emerging targeted therapies for cystic fibrosis. BMJ (2016) 0.87
Negamycin induces translational stalling and miscoding by binding to the small subunit head domain of the Escherichia coli ribosome. Proc Natl Acad Sci U S A (2014) 0.85
A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis. Mamm Genome (2009) 0.85
Polymorphic variation in cytochrome oxidase subunit genes. J Alzheimers Dis (2010) 0.85
Enzymatic processing of platinated RNAs. J Am Chem Soc (2010) 0.85
A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Mol Genet Metab (2007) 0.85
A flexible Bayesian method for detecting allelic imbalance in RNA-seq data. BMC Genomics (2014) 0.84
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis (2012) 0.84
Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations. Biotechnol Appl Biochem (2009) 0.84
Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs. Am J Hum Genet (2007) 0.83
Toward a rationale for the PTC124 (Ataluren) promoted readthrough of premature stop codons: a computational approach and GFP-reporter cell-based assay. Mol Pharm (2014) 0.83
The unfolded protein response affects readthrough of premature termination codons. EMBO Mol Med (2014) 0.82
A single nucleotide polymorphism in osteonectin 3' untranslated region regulates bone volume and is targeted by miR-433. J Bone Miner Res (2015) 0.81
The many faces of human leukocyte antigen-G: relevance to the fate of pregnancy. J Immunol Res (2014) 0.80
Differential effects of HNF-1α mutations associated with familial young-onset diabetes on target gene regulation. Mol Med (2010) 0.80
Current themes in molecular pediatrics: molecular medicine and its applications. Ital J Pediatr (2010) 0.78
Next-generation sequencing: from understanding biology to personalized medicine. Biology (Basel) (2013) 0.78
Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations. Sci Rep (2016) 0.77
Buffering of Genetic Regulatory Networks in Drosophila melanogaster. Genetics (2016) 0.77
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology (2015) 0.76
Mutation analysis in primary immunodeficiency diseases: case studies. Curr Opin Allergy Clin Immunol (2009) 0.76
RNT4 3'-UTR insertion/deletion polymorphisms are not associated with atrial septal defect in Chinese Han population: a brief communication. DNA Cell Biol (2012) 0.76
Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss. Biomed Res Int (2015) 0.75
Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. RNA Biol (2016) 0.75
Small molecules as therapeutic agents for inborn errors of metabolism. J Inherit Metab Dis (2016) 0.75
Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia. Mol Ther Nucleic Acids (2017) 0.75
A specific haplotype in the 3' end of estrogen-receptor alpha gene is associated with low bone mineral density in premenopausal women and increased risk of postmenopausal osteoporosis. Osteoporos Int (2005) 0.75
Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet (1996) 7.84
Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet (1999) 6.90
The surveillance complex interacts with the translation release factors to enhance termination and degrade aberrant mRNAs. Genes Dev (1998) 3.71
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet (1997) 2.98
A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest (1994) 2.98
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. Am J Hum Genet (2007) 2.91
A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells. Proc Natl Acad Sci U S A (1998) 2.87
A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Nat Biotechnol (2001) 2.82
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci U S A (1999) 2.80
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med (2010) 2.55
The molecular genetics of Marfan syndrome and related disorders. J Med Genet (2006) 2.45
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum Mol Genet (2001) 2.35
A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med (1994) 2.29
Mammalian orthologues of a yeast regulator of nonsense transcript stability. Proc Natl Acad Sci U S A (1996) 2.24
Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res (2001) 2.22
Novel Upf2p orthologues suggest a functional link between translation initiation and nonsense surveillance complexes. Mol Cell Biol (2000) 2.07
Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet (2001) 2.07
Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end. Genomics (1993) 2.05
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet (1995) 2.01
Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. Hum Mol Genet (2001) 1.75
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation (2001) 1.69
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet (1993) 1.53
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene. Am J Hum Genet (1991) 1.35
Nonsense mutations and diminished mRNA levels. Nat Genet (1993) 1.34
Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. AJNR Am J Neuroradiol (2009) 1.33
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. Nat Genet (1996) 1.31
Both the wild type and a functional isoform of CFTR are expressed in kidney. Am J Physiol (1996) 1.27
Extracellular microfibrils in development and disease. Cell Mol Life Sci (2007) 1.21
Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms. J Clin Invest (1994) 1.19
Mutations in KRIT1 in familial cerebral cavernous malformations. Neurosurgery (2000) 1.12
Inhibition of fibrillin 1 expression using U1 snRNA as a vehicle for the presentation of antisense targeting sequence. Hum Mol Genet (1997) 1.12
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. Hum Mol Genet (1993) 1.12
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome. Am J Hum Genet (1998) 1.07
Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype. J Clin Invest (1995) 1.07
Revised genomic organization of FBN1 and significance for regulated gene expression. Genomics (1999) 1.00
Endothelial dysfunction and compromised eNOS/Akt signaling in the thoracic aorta during the progression of Marfan syndrome. Br J Pharmacol (2007) 0.99
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J Clin Invest (1996) 0.98
Nonsense mutations and altered splice-site selection. Am J Hum Genet (1997) 0.97
Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII. Hum Mutat (2000) 0.96
The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome. Vet Pathol (2010) 0.94
Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations. Nat Med (1995) 0.90
Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons. Genomics (2000) 0.89
Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome. Am J Med Genet (2001) 0.88
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. Hum Mol Genet (1994) 0.87
GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection. Am J Med Genet A (2013) 0.85
Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene. Lab Invest (1998) 0.84
Nonstop treatment of cystic fibrosis. Nat Med (1996) 0.82
The Marfan syndrome and the cardiovascular surgeon. Eur J Cardiothorac Surg (1996) 0.80
Molecular biology--to the heart of the matter. N Engl J Med (1994) 0.80
Preimplantation genetic diagnosis of human embryos for Marfan's syndrome. J Assist Reprod Genet (1998) 0.78
Fibrillin (FBN1) mutations in Marfan syndrome. Hum Mutat (1992) 0.78
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Evaluation of inhA gene and catalase-peroxidase gene among isoniazid-sensitive and resistant Mycobacterium tuberculosis isolates. Mol Cell Probes (1996) 0.75