Codon, Nonsense

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  Subject Areas on Research

  • A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. 
  • A nonsense mutation in IKBKB causes combined immunodeficiency. 
  • A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. 
  • A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. 
  • A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. 
  • A whole-genome analysis of premature termination codons. 
  • ATM inhibition enhances cancer immunotherapy by promoting mtDNA leakage and cGAS/STING activation. 
  • Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. 
  • Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation. 
  • Association of CARD8 Activating Polymorphism With Bone Erosion in Cholesteatoma Patients. 
  • Ataluren treatment of patients with nonsense mutation dystrophinopathy. 
  • De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. 
  • Dwarfism and increased adiposity in the gh1 mutant zebrafish vizzini. 
  • Effects of premature termination codon polymorphisms in the Drosophila pseudoobscura subclade. 
  • Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. 
  • Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. 
  • Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 
  • Human dectin-1 deficiency and mucocutaneous fungal infections. 
  • Identification of a novel mutation (C321X) in HJV. 
  • Identification of a novel risk variant in the FUS gene in essential tremor. 
  • Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation. 
  • Molecular basis for hair loss in mice carrying a novel nonsense mutation (Hrrh-R ) in the hairless gene (Hr). 
  • Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. 
  • Mutational landscape of candidate genes in familial prostate cancer. 
  • Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 
  • Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 
  • Mutations in eukaryotic release factors 1 and 3 act as general nonsense suppressors in Drosophila. 
  • Natural mismatch repair mutations mediate phenotypic diversity and drug resistance in Cryptococcus deuterogattii. 
  • Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. 
  • Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 
  • Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. 
  • Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. 
  • PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. 
  • Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 
  • Progress in therapy for Duchenne muscular dystrophy. 
  • RNASEL mutations in hereditary prostate cancer. 
  • Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. 
  • SETD2 histone modifier loss in aggressive GI stromal tumours. 
  • Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. 
  • Sprinter: a novel transmembrane protein required for Wg secretion and signaling. 
  • Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 
  • Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 
  • Tnni3k modifies disease progression in murine models of cardiomyopathy. 
  • Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome. 
  • Uncontrolled transposition following RNAi loss causes hypermutation and antifungal drug resistance in clinical isolates of Cryptococcus neoformans. 
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  Keywords of People

  • Bejsovec, Amy, Associate Professor of Biology, Biology