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.
- Causal Genetic Variants in Stillbirth.
- 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 Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
- Discrete in vivo roles for the MutL homologs Mlh2p and Mlh3p in the removal of frameshift intermediates in budding yeast.
- 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.
- Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher 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 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.
- Mechanistic insights into cancer cell killing through interaction of phosphodiesterase 3A and schlafen family member 12.
- 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 ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
- Mutational analysis of the tyrosine phosphatome in colorectal cancers.
- Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
- 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.
- Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children.
- Processive DNA synthesis observed in a polymerase crystal suggests a mechanism for the prevention of frameshift mutations.
- Progress in therapy for Duchenne muscular dystrophy.
- RNA∶DNA hybrids initiate quasi-palindrome-associated mutations in highly transcribed yeast DNA.
- Removal of frameshift intermediates by mismatch repair proteins in Saccharomyces cerevisiae.
- Replication of N2-ethyldeoxyguanosine DNA adducts in the human embryonic kidney cell line 293.
- 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 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.
- Transgenic plants expressing potato virus X ORF2 protein (p24) are resistant to tobacco mosaic virus and Ob tobamoviruses.
- 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.
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Keywords of People
- Buckley, Rebecca Hatcher, Professor Emeritus of Pediatrics, Pediatrics, Allergy and Immunology
- Yan, Hai, Adjunct Professor of Pathology, Pathology