Frameshift Mutation

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  Subject Areas on Research

  • A de novo frame-shift mutation in the tuberin gene. 
  • A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice. 
  • A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. 
  • Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene. 
  • An examination of adaptive reversion in Saccharomyces cerevisiae. 
  • Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes. 
  • Another surprise from the mitochondrial genome. 
  • Artifactual frame-shift p53 mutation at codon 249 detected with the Cyclist DNA sequencing method. 
  • Association of increased spontaneous mutation rates with high levels of transcription in yeast. 
  • Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 
  • Base composition of mononucleotide runs affects DNA polymerase slippage and removal of frameshift intermediates by mismatch repair in Saccharomyces cerevisiae. 
  • CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. 
  • Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene. 
  • DNA polymerase zeta introduces multiple mutations when bypassing spontaneous DNA damage in Saccharomyces cerevisiae. 
  • DNA polymerase zeta is essential for hexavalent chromium-induced mutagenesis. 
  • DNA repair: a double-edged sword. 
  • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. 
  • Discrete in vivo roles for the MutL homologs Mlh2p and Mlh3p in the removal of frameshift intermediates in budding yeast. 
  • Distinctive patterns of translational reinitiation in the lac repressor mRNA: bridging of long distances by out-of-frame translation and RNA secondary structure, effects of primary sequence. 
  • Dystrophin immunity in Duchenne's muscular dystrophy. 
  • Emergent bistability by a growth-modulating positive feedback circuit. 
  • Endosymbiont gene functions impaired and rescued by polymerase infidelity at poly(A) tracts. 
  • Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. 
  • Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms. 
  • Extreme thyroid hormone resistance in a patient with a novel truncated TR mutant. 
  • Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 
  • Familial polycythemia due to truncations of the erythropoietin receptor. 
  • Frameshift intermediates in homopolymer runs are removed efficiently by yeast mismatch repair proteins. 
  • Frameshift mutagenesis: the roles of primer-template misalignment and the nonhomologous end-joining pathway in Saccharomyces cerevisiae. 
  • Frameshifts and deletions during in vitro translesion synthesis past Pt-DNA adducts by DNA polymerases beta and eta. 
  • Germline Genetic IKZF1 Variation and Predisposition to Childhood Acute Lymphoblastic Leukemia. 
  • Human factor IXLincoln Park: a molecular characterization. 
  • Identification of a mutant DNA polymerase delta in Saccharomyces cerevisiae with an antimutator phenotype for frameshift mutations. 
  • Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). 
  • Identification of regions of the Beet mild curly top virus (family Geminiviridae) capsid protein involved in systemic infection, virion formation and leafhopper transmission. 
  • Identification of the breast cancer susceptibility gene BRCA2. 
  • Increasing evidence for syndromic phenotypes associated with RPGR mutations. 
  • Instability of simple sequence repeats in a mammalian cell line. 
  • Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction. 
  • Multiple, conserved cryptic recombination signals in VH gene segments: detection of cleavage products only in pro B cells. 
  • Mutagenic effects of abasic and oxidized abasic lesions in Saccharomyces cerevisiae. 
  • Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. 
  • Mutational analysis of the Drosophila DNA repair and recombination gene mei-9. 
  • Mutational analysis of the tyrosine phosphatome in colorectal cancers. 
  • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 
  • NF1 inactivation in adult acute myelogenous leukemia. 
  • NF1-related locus on chromosome 15. 
  • Novel PMS1 alleles preferentially affect the repair of primer strand loops during DNA replication. 
  • Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online. 
  • Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. 
  • Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. 
  • Parallel analysis of ribonucleotide-dependent deletions produced by yeast Top1 in vitro and in vivo. 
  • Processive DNA synthesis observed in a polymerase crystal suggests a mechanism for the prevention of frameshift mutations. 
  • RNA∶DNA hybrids initiate quasi-palindrome-associated mutations in highly transcribed yeast DNA. 
  • Removal of frameshift intermediates by mismatch repair proteins in Saccharomyces cerevisiae. 
  • Role for topoisomerase 1 in transcription-associated mutagenesis in yeast. 
  • Role of Pseudomonas aeruginosa dinB-encoded DNA polymerase IV in mutagenesis. 
  • Roles of RAD6 epistasis group members in spontaneous polzeta-dependent translesion synthesis in Saccharomyces cerevisiae. 
  • Sequence composition and context effects on the generation and repair of frameshift intermediates in mononucleotide runs in Saccharomyces cerevisiae. 
  • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. 
  • Slip into something more functional: selection maintains ancient frameshifts in homopolymeric sequences. 
  • Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types. 
  • Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. 
  • Spontaneous frameshift mutations in Saccharomyces cerevisiae: accumulation during DNA replication and removal by proofreading and mismatch repair activities. 
  • Successful prophylactic regimens for transvaginal oocyte retrieval in women with bleeding diatheses. 
  • The 9-1-1 checkpoint clamp physically interacts with polzeta and is partially required for spontaneous polzeta-dependent mutagenesis in Saccharomyces cerevisiae. 
  • The effect of oxidative metabolism on spontaneous Pol zeta-dependent translesion synthesis in Saccharomyces cerevisiae. 
  • The effect of sequence context on spontaneous Polzeta-dependent mutagenesis in Saccharomyces cerevisiae. 
  • The fitness of citrus tristeza virus defective RNAs is affected by the lengths of their 5'- and 3'-termini and by the coding capacity. 
  • The in vivo characterization of translesion synthesis across UV-induced lesions in Saccharomyces cerevisiae: insights into Pol zeta- and Pol eta-dependent frameshift mutagenesis. 
  • The specificity of topoisomerase-mediated DNA cleavage defines acridine-induced frameshift specificity within a hotspot in bacteriophage T4. 
  • The specificity of topoisomerase-mediated DNA cleavage defines acridine-induced frameshift specificity within a hotspot in bacteriophage T4. 
  • Trilateral retinoblastoma in a patient with Peutz-Jeghers syndrome. 
  • Unprecedented loss of ammonia assimilation capability in a urease-encoding bacterial mutualist. 
  • Variation in efficiency of DNA mismatch repair at different sites in the yeast genome. 
  • Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 
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  Keywords of People

  • Buckley, Rebecca Hatcher, James Buren Sidbury Professor of Pediatrics, in the School of Medicine, Immunology
  • Yan, Hai, Henry S. Friedman Professor of Neuro-Oncology in the School of Medicine, Pathology