Science s STKE · 2003
Among a few human genes, there has long been evidence for a significant difference in specific mutations between males and females and an increase in mutation with paternal age. The gene for fibroblast growth factor receptor 2, FGFR2 , encodes a receptor tyrosine kinase protein, and mutation of nucleotide 755 of this gene frequently results in offspring with conditions such as Apert syndrome, which causes craniofacial and limb malformations. Goriely et al. (see the Perspective by Crow) now examine the prevalence of FGFR2 mutations in sperm and show the age dependence of these events. The mutations occur infrequently but become enriched through cellular selection within the testis. Hence, the mutation that occurs is one that is good for the spermatogonial cell in which it arises, but bad for any resulting offspring. A. Goriely, G. A. T. McVean, M. Röjmyr, B. Ingemarsson, A. O. M. Wilkie, Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 301 , 643-646 (2003). [Abstract] [Full Text] J. F. Crow, There's something curious about paternal-age effects. Science 301 , 606-607 (2003). [Summary] [Full Text]
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2024
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László Patthy · Dictionary of Bioinformatics and Computational Biology · 2004
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Science Signaling · 2003
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Science · 2003
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László Patthy · Dictionary of Bioinformatics and Computational Biology · 2004
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L. Slade Lee, Bradley J. Till, Helen Hill et al. · Methods in molecular biology · 2013
Molecular techniques have created the opportunity for great advances in plant mutation genetics and the science of mutation breeding. The powerful targeted induced local lesions in genomes (TILLING) technique has introduced the possibility of reverse genetics—the ability to screen for mutations at the DNA level prior to assessing phenotype. Fundamental to TILLING is the induction of mutant populations (or alternatively, the identification of mutants in the environment); and mutation induction requires an understanding and assessment of the appropriate mutagen dose required. The techniques of mutation induction, dose optimization, and TILLING are explained.
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The Dictionary of Genomics, Transcriptomics and Proteomics · 2015
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Hassan, AB, Paraskeva, C · Bristol Research (University of Bristol) · 2005
For the 500,000 new cases of colorectal cancer in the world each year, identification of patients with a worse prognosis and those who are more likely to respond to treatment is a challenge. There is an increasing body of evidence correlating genetic mutations with outcome in tumours derived from human colorectal cancer cohorts. K-ras, but not p53 or APC, mutations appear to be associated with poorer overall survival in colorectal cancer patients.
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A. Bassim Hassan, C Paraskeva · Gut · 2005
For the 500,000 new cases of colorectal cancer in the world each year, identification of patients with a worse prognosis and those who are more likely to respond to treatment is a challenge. There is an increasing body of evidence correlating genetic mutations with outcome in tumours derived from human colorectal cancer cohorts. K-ras, but not p53 or APC, mutations appear to be associated with poorer overall survival in colorectal cancer patients.
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The Dictionary of Genomics, Transcriptomics and Proteomics · 2015
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Richard G.H. Cotton · Clinical Chemistry and Laboratory Medicine (CCLM) · 1998
Detection of mutations in genes is vital throughout biology, however, this activity is time-consuming, expensive and requires a high degree of skill. This is unsatisfactory in a field which is increasing importance. Around 10-12 methods are commonly used with some predominating. All have their advantages and disadvantages and none is perfect. Sequencing is said to be the gold standard for detecting new mutations (and must be used to define it), but six or so methods have been described to make the search quicker to avoid sequencing the whole gene. These are called scanning methods. Other methods are used to detect known mutations and referred to as diagnostic methods. These methods will be briefly reviewed. Once mutations are described, they are usually published. The mutation lists are collected for convenience, analysis or research. In recent years, it has been realised that these lists are vital for research, patient care and commercial activities. These activities will be reviewed and the co-ordinating role of the HUGO Mutation Database Initiative will be outlined.
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Alexandre Taalba · GLAD! · 2016
À travers l’histoire d’une jeune femme dont le gros orteil droit s’est mué en pénis, Matsuura Rieko propose une conception de l’amour et de la sexualité en termes de genre, plutôt qu’en termes de sexe, que nous souhaitons mettre en lumière. Alors que l’héroïne concevait, de son propre aveu, la sexualité comme un rapport exclusivement hétérosexuel, l’apparition de son « pénis d’orteil » la conduit à envisager la sexualité sous l’angle d’une relation amoureuse entre deux êtres, au-delà de leur détermination sexuelle, en cela que le rapport sexuel même ne sollicite pas l’organe sexuel en priorité. Amené à se produire sur scène au sein d’une troupe de comédiens dont chacun des membres possède une particularité physique liée au sexe, le personnage comprend que ce qu’elle montre sur scène, « l’union pénis-vagin », est ce que la société consacre comme rapport sexuel normal. Au terme de son parcours initiatique, Kazumi brise le paradoxe du comédien dont elle était prisonnière : ce sentiment, qu’elle éprouve au début de l’intrigue, de matérialiser son amour à travers le rapport sexuel conventionnel et ce sentiment de frustration alors qu’elle doit interpréter ce même type de rapport sexuel sur scène à la fin du récit entrent en contradiction. Pénis d’orteil est un roman d’apprentissage sous-tendu par une étude sur le genre.
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The Dictionary of Genomics, Transcriptomics and Proteomics · 2015
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Shashi Shekhar, Hui Xiong, Xun Zhou · Encyclopedia of GIS · 2017
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I Galván, A. P. Møller, J. Erritzøe · 2014
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Hans-J. Rhaese · 1976
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M. W. G. De Bolster · IUPAC Standards Online · 2016
: The glossary contains definitions and (where needed) explanatory notes for about 400 terms used in the multidisciplinary field of bioinorganic chemistry. A need has been recognized for globally acceptable definitions of terms in this field and this glossary was compiled with the objective of fulfilling this need. It is by no means a comprehensive dictionary. The terms selected were those considered essential and/or widely used. The definitions given reflect current usage and complement IUPAC guidelines. Abbreviations and acronyms, frequently used in bioinorganic chemistry, are included.
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Liégeois, Jean-Pierre · Cairn.info · 1983
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Depaigne, Anne · Cairn.info · 1997
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