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  1. (PDF) What is mutation? A chapter in the series: How microbes

    mutation—purely "chance" or highly biased, regulated mechanisms—are compatible with evo-. lution by variation and selection. Here, we review some of the wealth of evidence, much of which ...

  2. Mutation—The Engine of Evolution: Studying Mutation and Its Role in the

    Abstract. Mutation is the engine of evolution in that it generates the genetic variation on which the evolutionary process depends. To understand the evolutionary process we must therefore characterize the rates and patterns of mutation. Starting with the seminal Luria and Delbruck fluctuation experiments in 1943, studies utilizing a variety of ...

  3. Mutation Research

    A section of Mutation Research Mutation Research (MR) provides a platform for publishing all aspects of DNA mutations and epimutations, from basic evolutionary aspects to translational applications in genetic and epigenetic diagnostics and therapy.Mutations are defined as all possible alterations in DNA sequence and sequence organization, from point mutations to genome structural variation ...

  4. Mutation Research

    A section of Mutation Research Mutation Research: Genetic Toxicology and Environmental Mutagenesis (MRGTEM) publishes papers advancing knowledge in the field of genetic toxicology. Papers are welcomed in the following areas: New developments in genotoxicity testing of chemical agents (e.g., in … View full aims & scope $

  5. Mutation Research

    The subject areas of Mutation Research - Reviews in Mutation Research (MRR) encompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease.Thus, this section will cover: Advances in human genome research (including evolving technologies for mutation detection and functional genomics) with ...

  6. PDF Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis

    20 Q. Al-Hadid et al. / Mutation Research 645 (2008) 19-26 mutants in the absence of any exogenous DNA damage [25]. Fur-ther, in the absence of RecBCD, plasmids are not stably maintained [28-30]. recF, recO,orrecR mutants are proficient in conjugational and transductional recombination, but are hypersensitive to UV-

  7. [PDF] Mutation Research/Fundamental and Molecular Mechanisms of

    The observation that mutations at the native Dlb-1 and the lacI transgene reach a plateau within 1 week of mutagenesis in the small intestine of mice indicates that the mutation frequency at neutral loci will be an integrated measure of the effects of aging, endogenous Mutagens, environmental mutagens and antimutagens. Expand

  8. PDF The history of mutation research

    The history of mutation research may be divided into five periods. During the first period - from 1900 to 1927 - the concepts of mutation and mutation rates were developed, the basic questions about the nature of mutation were formulated and techniques for measuring mutation rates were worked out. The second period

  9. Human Mutation

    About This Journal. Human Mutation is a peer-reviewed journal that offers publication of original research, Reviews, Mutation Updates, Methods, Data Articles, and Informatics Articles on broad aspects of mutation research and bioinformatics in humans. Reports of novel DNA variations and their phenotypic consequences, novel disease genes and/or phenotypes, and descriptions of new molecular ...

  10. Human Molecular Genetics and Genomics

    Genomic research has evolved from seeking to understand the fundamentals of the human genetic code to examining the ways in which this code varies among people, and then applying this knowledge to ...

  11. Mutation research: Problems, results and perspectives

    Download book PDF. Mutation research Download book PDF. Overview Authors: Charlotte Auerbach 0 ... It includes classical papers as well as very recent ones (to the end of 1974); reviews as well as specialized articles; elementary expositions from Scientific American as well as highly technical papers from journals on genetics and molecular ...

  12. An Overview of Mutation Detection Methods in Genetic Disorders

    Mutations can also be categorized on the basis of the function: 1) The loss-of-function mutations cause a decrease or a loss of the gene product or the activity of the gene product; 2) The gain-of-function mutations cause an increase in the amount of gene product or its activity, and sometimes create a new property, leading to a toxic product ...

  13. PDF Spontaneous and induced mutations to rifampicin, streptomycin ...

    a classic paper on mutagenic mechanisms focused on reversion of amber and ochre mutations in the lacI gene of E. coli was published in 1977. 24 The choice of mutagens explored at Lilly was heavily

  14. The Chemical Production of Mutations

    Abstract. Since the discovery of the first potent mutagens over 20 years ago, progress in mutation research has been rapid. Many new mutagens, belonging to a variety of chemical classes, have been discovered, and for some of them the reaction with DNA in vitro has been established. It seems that the findings of these chemical investigations ...

  15. Mutation Research/Mutation Research Genomics

    Jianzhong Wu. June 2001 View PDF. More opportunities to publish your research: Browse open Calls for Papers beta. Read the latest articles of Mutation Research/Mutation Research Genomics at ScienceDirect.com, Elsevier's leading platform of peer-reviewed scholarly literature.

  16. [PDF] A mutation that prevents myosin from overcoming its inhibitions

    The interfilament signaling pathways based on titin and myosin-binding protein-C that couple thin and thick filament regulatory mechanisms that mediates the length-dependent activation of cardiac muscle that underlies the control of the cardiac output in each heartbeat are highlighted.

  17. SARS-CoV-2 Mutations and their Viral Variants

    Abstract. Mutations in the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) occur spontaneously during replication. Thousands of mutations have accumulated and continue to since the emergence of the virus. As novel mutations continue appearing at the scene, naturally, new variants are increasingly observed.

  18. APOE4 homozygozity represents a distinct genetic form of ...

    AD is a genetically complex disorder with both rare and common genetic variants involved in its pathogenesis 1,2. Mutations in three genes, APP, PSEN1 and PSEN2, cause early-onset autosomal ...

  19. Circadian ribosome profiling reveals a role for the Period2 ...

    Period (Per) is an iconic gene in the field of circadian rhythms since its discovery in 1971 by Seymour Benzer and Ronald Konopka in fruit flies. The inhibitory feedback loop of PER protein drives circadian rhythms. We show that Per2 is regulated by an upstream open reading frame (uORF) in the 5′ untranslated region of the Per2 mRNA. Mutation of the Per2 uORF altered the amplitude of ...

  20. Cubic millimetre of brain mapped in spectacular detail

    The 3D map covers a volume of about one cubic millimetre, one-millionth of a whole brain, and contains roughly 57,000 cells and 150 million synapses — the connections between neurons. It ...

  21. Guide for authors

    Types of Paper Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis publishes the following types of article: (I) Research papers - papers reporting results of original, fundamental research. (II) Short communications of up to 5 printed pages. (III)Rapids - are accelerated publications - research papers identified by the Editor as being of significant quality and thereby ...

  22. A review of cystic fibrosis: Basic and clinical aspects

    Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). We summarize clinical and genetic characteristics of cystic fibrosis gene mutations, as well as animal models used to study human cystic fibrosis disease. 1.

  23. Virome Sequencing Identifies H5N1 Avian Influenza in Wastewater from

    Here, using an agnostic, hybrid-capture sequencing approach, we report the detection of H5N1 in wastewater in nine Texas cities, with a total catchment area population in the millions, over a two-month period from March 4 th to April 25 th, 2024. Sequencing reads uniquely aligning to H5N1 covered all eight genome segments, with best alignments ...

  24. 2023 summer warmth unparalleled over the past 2,000 years

    Here, we combine observed and reconstructed June-August (JJA) surface air temperatures to show that 2023 was the warmest NH extra-tropical summer over the past 2000 years exceeding the 95% ...