نتایج جستجو برای: silent mutation

تعداد نتایج: 308217  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2004
Toshiyuki Takano-Shimizu Akira Kawabe Nobuyuki Inomata Noriko Nanba Rumi Kondo Yutaka Inoue Masanobu Itoh

Some forms of multilocus selection with epistasis, such as truncation selection, can effectively reduce the mutation load [Kondrashov, A. S. (1988) Nature 336, 435-440]. Many quantitative characters, including complex genetic diseases, are likely to be subject to these types of selection. However, direct measurement of selection in natural populations is difficult and the effect of epistasis on...

Journal: :Genetics 2004
T Daniel Andrews Takashi Gojobori

The PilE protein is the major component of the Neisseria meningitidis pilus, which is encoded by the pilE/pilS locus that includes an expressed gene and eight homologous silent fragments. The silent gene fragments have been shown to recombine through gene conversion with the expressed gene and thereby provide a means by which novel antigenic variants of the PilE protein can be generated. We hav...

2016
Hongan Long David J. Winter Allan Y.-C. Chang Way Sung Steven H. Wu Mariel Balboa Ricardo B. R. Azevedo Reed A. Cartwright Michael Lynch Rebecca A. Zufall

Mutation is the ultimate source of all genetic variation and is, therefore, central to evolutionary change. Previous work on Paramecium tetraurelia found an unusually low germline base-substitution mutation rate in this ciliate. Here, we tested the generality of this result among ciliates using Tetrahymena thermophila. We sequenced the genomes of 10 lines of T. thermophila that had each undergo...

Journal: :Genetics 2003
Ziheng Yang Simon Ro Bruce Rannala

The role of somatic mutation in cancer is well established and several genes have been identified that are frequent targets. This has enabled large-scale screening studies of the spectrum of somatic mutations in cancers of particular organs. Cancer gene mutation databases compile the results of many studies and can provide insight into the importance of specific amino acid sequences and functio...

2014
Michel Guipponi Federico A. Santoni Vincent Setola Corinne Gehrig Maud Rotharmel Macarena Cuenca Olivier Guillin Dimitris Dikeos Georgios Georgantopoulos George Papadimitriou Logos Curtis Alexandre Méary Franck Schürhoff Stéphane Jamain Dimitri Avramopoulos Marion Leboyer Dan Rujescu Ann Pulver Dominique Campion David P. Siderovski Stylianos E. Antonarakis

Schizophrenia (SCZ) is a severe, debilitating mental illness which has a significant genetic component. The identification of genetic factors related to SCZ has been challenging and these factors remain largely unknown. To evaluate the contribution of de novo variants (DNVs) to SCZ, we sequenced the exomes of 53 individuals with sporadic SCZ and of their non-affected parents. We identified 49 D...

Journal: :Bioinformatics 2013
Orion J. Buske AshokKumar Manickaraj Seema Mital Peter N. Ray Michael Brudno

MOTIVATION The prioritization and identification of disease-causing mutations is one of the most significant challenges in medical genomics. Currently available methods address this problem for non-synonymous single nucleotide variants (SNVs) and variation in promoters/enhancers; however, recent research has implicated synonymous (silent) exonic mutations in a number of disorders. RESULTS We ...

2018
Bernard Nathanson

The Silent Scream is an anti-abortion [5] film released in 1984 by American Portrait Films, then based in Brunswick, Ohio. The film was created and narrated by Bernard Nathanson, an obstetrician and gynecologist from New York, and it was produced by Crusade for Life, an evangelical anti-abortion [5] organization [6]. In the video, Nathanson narrates ultrasound [7] footage of an abortion [5] of ...

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