Pages that link to "Q53037787"
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The following pages link to A meta-analysis of nonsense mutations causing human genetic disease. (Q53037787):
Displaying 50 items.
- Translational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequence (Q26801496) (← links)
- New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals (Q26801582) (← links)
- Therapeutic suppression of premature termination codons: mechanisms and clinical considerations (review) (Q26853614) (← links)
- Nonsense-mediated mRNA decay in humans at a glance (Q28077157) (← links)
- Nonsense-Mediated mRNA Decay: Degradation of Defective Transcripts Is Only Part of the Story (Q28082699) (← links)
- Attenuation of nonsense-mediated mRNA decay enhances in vivo nonsense suppression (Q28486134) (← links)
- Overexpression of the c-myc oncogene inhibits nonsense-mediated RNA decay in B lymphocytes (Q28742550) (← links)
- Gene inactivation and its implications for annotation in the era of personal genomics (Q28743829) (← links)
- Novel small molecules potentiate premature termination codon readthrough by aminoglycosides (Q28828711) (← links)
- Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations. (Q30367118) (← links)
- The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review (Q30782415) (← links)
- Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia. (Q30820082) (← links)
- An integrated approach to the interpretation of single amino acid polymorphisms within the framework of CATH and Gene3D. (Q33503928) (← links)
- Aminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes (Q33681878) (← links)
- Allelic imbalance of somatic mutations in cancer genomes and transcriptomes. (Q33687737) (← links)
- Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations (Q33704273) (← links)
- Nonsense-mediated RNA decay regulation by cellular stress: implications for tumorigenesis. (Q33739414) (← links)
- A pan-cancer genome-wide analysis reveals tumour dependencies by induction of nonsense-mediated decay (Q33851208) (← links)
- A Chinese family with progressive childhood cataracts and IVS3 1G>A CRYBA3/A1 mutations (Q34366283) (← links)
- Molecular genetic diagnostic techniques in choroideremia (Q34418549) (← links)
- Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutations (Q34475657) (← links)
- Nonsense-mediated decay in genetic disease: friend or foe? (Q34658988) (← links)
- Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). (Q35003560) (← links)
- Nonsense-mediated mRNA decay immunity can help identify human polycistronic transcripts (Q35118819) (← links)
- On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease (Q35226155) (← links)
- Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases (Q35287888) (← links)
- Association of ADORA1 rs2228079 and ADORA2A rs5751876 Polymorphisms with Gilles de la Tourette Syndrome in the Polish Population. (Q35759035) (← links)
- The somatic autosomal mutation matrix in cancer genomes (Q35829550) (← links)
- Expanding rare disease drug trials based on shared molecular etiology (Q35993017) (← links)
- Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis (Q36075348) (← links)
- De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm (Q36279051) (← links)
- Effects of premature termination codon polymorphisms in the Drosophila pseudoobscura subclade (Q36428834) (← links)
- Rules of UGA-N decoding by near-cognate tRNAs and analysis of readthrough on short uORFs in yeast (Q36566617) (← links)
- Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients (Q36611332) (← links)
- New inducible genetic method reveals critical roles of GABA in the control of feeding and metabolism (Q36770507) (← links)
- A dynamic intron retention program in the mammalian megakaryocyte and erythrocyte lineages (Q36851409) (← links)
- Regulation of nonsense-mediated mRNA decay: implications for physiology and disease (Q36864323) (← links)
- Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties (Q36915091) (← links)
- Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine (Q37046185) (← links)
- Conserved nonsense-prone CpG sites in apoptosis-regulatory genes: conditional stop signs on the road to cell death (Q37057153) (← links)
- A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs (Q37156143) (← links)
- Global analyses of UPF1 binding and function reveal expanded scope of nonsense-mediated mRNA decay (Q37207905) (← links)
- TP53 exon-6 truncating mutations produce separation of function isoforms with pro-tumorigenic functions. (Q37388699) (← links)
- Proposing a mechanism of action for ataluren (Q37398231) (← links)
- Toward postnatal reversal of ocular congenital malformations (Q37410639) (← links)
- Long-term nonsense suppression therapy moderates MPS I-H disease progression. (Q37619694) (← links)
- Therapeutics based on stop codon readthrough (Q37638359) (← links)
- Ataluren as an agent for therapeutic nonsense suppression (Q37670599) (← links)
- Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases (Q37726532) (← links)
- Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity (Q37737097) (← links)