The power of point mutations.

Splicing in action: assessing disease causing sequence changes. J Med Genet (2005) 3.07

Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res (2006) 1.89

Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus. Proc Natl Acad Sci U S A (2007) 1.13

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation. Neurogenetics (2009) 1.08

Nonsense-associated alternative splicing of T-cell receptor beta genes: no evidence for frame dependence. RNA (2004) 0.95

Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame. RNA (2004) 0.90

WDR46 is a Genetic Risk Factor for Aspirin-Exacerbated Respiratory Disease in a Korean Population. Allergy Asthma Immunol Res (2012) 0.77

Possible role of EMID2 on nasal polyps pathogenesis in Korean asthma patients. BMC Med Genet (2012) 0.75

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci (1998) 9.06

The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J (2000) 7.54

Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. Cell (2001) 4.92

In vitro analysis of the Escherichia coli RNA polymerase interaction with wild-type and mutant lactose promoters. J Mol Biol (1978) 4.15

Premature translation termination mediates triosephosphate isomerase mRNA degradation. Mol Cell Biol (1988) 4.09

Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions. Genes Dev (2000) 3.74

Intron function in the nonsense-mediated decay of beta-globin mRNA: indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm. RNA (1998) 3.18

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol (1990) 3.10

Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA. Proc Natl Acad Sci U S A (1993) 2.98

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

Nonsense codons can reduce the abundance of nuclear mRNA without affecting the abundance of pre-mRNA or the half-life of cytoplasmic mRNA. Mol Cell Biol (1993) 2.85

At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation. Mol Cell Biol (1998) 2.79

Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). Mol Cell Biol (2001) 2.61

Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products. Mol Cell Biol (1992) 2.51

Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet (1996) 2.45

Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance. Mol Cell Biol (1994) 2.42

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. Mol Cell Biol (1998) 2.24

Upstream introns influence the efficiency of final intron removal and RNA 3'-end formation. Genes Dev (1994) 2.13

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping. Mol Cell Biol (1994) 2.13

Human beta-globin mRNAs that harbor a nonsense codon are degraded in murine erythroid tissues to intermediates lacking regions of exon I or exons I and II that have a cap-like structure at the 5' termini. EMBO J (1992) 2.09

Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life. Mol Cell Biol (1994) 2.09

Evidence that phosphorylation of human Upfl protein varies with intracellular location and is mediated by a wortmannin-sensitive and rapamycin-sensitive PI 3-kinase-related kinase signaling pathway. RNA (2001) 2.01

Characterization of the functional gene and several processed pseudogenes in the human triosephosphate isomerase gene family. Mol Cell Biol (1985) 1.97

Human triosephosphate isomerase cDNA and protein structure. Studies of triosephosphate isomerase deficiency in man. J Biol Chem (1985) 1.90

lac Promoter mutations located downstream from the transcription start site. J Mol Biol (1980) 1.82

Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J (1997) 1.79

mRNA-deficient beta o-thalassemia results from a single nucleotide deletion. Nucleic Acids Res (1982) 1.78

Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein. J Biol Chem (2001) 1.74

Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia. Proc Natl Acad Sci U S A (1980) 1.72

Novel metabolism of several beta zero-thalassemic beta-globin mRNAs in the erythroid tissues of transgenic mice. EMBO J (1989) 1.68

Sequences within the last intron function in RNA 3'-end formation in cultured cells. Mol Cell Biol (1993) 1.67

Nonsense-mediated decay of glutathione peroxidase 1 mRNA in the cytoplasm depends on intron position. EMBO J (2000) 1.40

Localization of DNA sequences involved in dexamethasone-dependent expression of the rat alpha 1-acid glycoprotein gene. Mol Cell Biol (1986) 1.40

lac Promoter mutation Pr115 generates a new transcription initiation point. J Mol Biol (1980) 1.32

A beta zero-thalassemic beta-globin RNA that is labile in bone marrow cells is relatively stable in HeLa cells. Nucleic Acids Res (1985) 1.28

New ways of initiating translation in eukaryotes. Mol Cell Biol (2001) 1.20

Nonsense-mediated decay of mRNA for the selenoprotein phospholipid hydroperoxide glutathione peroxidase is detectable in cultured cells but masked or inhibited in rat tissues. Mol Biol Cell (2001) 1.18

Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. Proc Natl Acad Sci U S A (1986) 1.14

mRNA surveillance in mammalian cells: the relationship between introns and translation termination. RNA (2000) 1.12

Transcriptional regulatory sequences of the housekeeping gene for human triosephosphate isomerase. J Biol Chem (1989) 1.11

Cytoplasmic mRNA for human triosephosphate isomerase is immune to nonsense-mediated decay despite forming polysomes. Biochimie (1996) 1.08

Evidence that the decay of nucleus-associated nonsense mRNA for human triosephosphate isomerase involves nonsense codon recognition after splicing. RNA (1996) 1.08

Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. Am J Hum Genet (1993) 1.04

Lack of an effect of the efficiency of RNA 3'-end formation on the efficiency of removal of either the final or the penultimate intron in intact cells. Mol Cell Biol (1995) 1.03

The presence of an intron within the rat gene for selenium-dependent glutathione peroxidase 1 is not required to protect nuclear RNA from UGA-mediated decay. RNA (1997) 1.02

Nucleotide sequence of murine triosephosphate isomerase cDNA. Nucleic Acids Res (1990) 0.99

Influence of A-T content on the fractionation of DNA restriction fragments by RPC-5 column chromatography. J Biol Chem (1979) 0.93

Minimal sequence and factor requirements for the initiation of transcription from an atypical, TATATAA box-containing housekeeping promoter. J Biol Chem (1990) 0.90

Modulation of human triosephosphate isomerase gene transcription by serum. J Biol Chem (1991) 0.77