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314 Newest Publications in proceedings of the national academy of sciences current issue

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Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome [Genetics]

03-09-2013 | Zhong Deng; Galina Glousker; Aliah Molczan; Alan J. Fox; Noa Lamm; Jayaraju Dheekollu; Orr-El Weizman; Michael Scher ..., Proceedings of the National Academy of Sciences current issue, 2013

Telomeres repress the DNA damage response at the natural chromosome ends to prevent cell-cycle arrest and maintain genome stability. Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell ...

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Germ-line variant of human NTH1 DNA glycosylase induces genomic instability and cellular transformation [Genetics]

27-08-2013 | Heather A. Galick; Scott Kathe; Minmin Liu; Susan Robey-Bond; Dawit Kidane; Susan S. Wallace; Joann B. Sweasy, Proceedings of the National Academy of Sciences current issue, 2013

Base excision repair (BER) removes at least 20,000 DNA lesions per human cell per day and is critical for the maintenance of genomic stability. We hypothesize that aberrant BER, resulting from mutations in BER genes, can lead to genomic instability and cancer. The first step in BER is catalyzed ...

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Conditionals by inversion provide a universal method for the generation of conditional alleles [Genetics]

20-08-2013 | Aris N. Economides; David Frendewey; Peter Yang; Melissa G. Dominguez; Anthony T. Dore; Ivan B. Lobov; Trikaldarshi ..., Proceedings of the National Academy of Sciences current issue, 2013

Conditional mutagenesis is becoming a method of choice for studying gene function, but constructing conditional alleles is often laborious, limited by target gene structure, and at times, prone to incomplete conditional ablation. To address these issues, we developed a technology termed ...

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Progressive hearing loss and gradual deterioration of sensory hair bundles in the ears of mice lacking the actin-binding protein Eps8L2 [Genetics]

20-08-2013 | David N. Furness; Stuart L. Johnson; Uri Manor; Lukas Rüttiger; Arianna Tocchetti; Nina Offenhauser; Jennifer Olt; R ..., Proceedings of the National Academy of Sciences current issue, 2013

Mechanotransduction in the mammalian auditory system depends on mechanosensitive channels in the hair bundles that project from the apical surface of the sensory hair cells. Individual stereocilia within each bundle contain a core of tightly packed actin filaments, whose length is dynamically ...

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Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system [Genetics]

20-08-2013 | Li-En Jao; Susan R. Wente; Wenbiao Chen, Proceedings of the National Academy of Sciences current issue, 2013

A simple and robust method for targeted mutagenesis in zebrafish has long been sought. Previous methods generate monoallelic mutations in the germ line of F0 animals, usually delaying homozygosity for the mutation to the F2 generation. Generation of robust biallelic mutations in the F0 would ...

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Pinpointing genes underlying the quantitative trait loci for root-knot nematode resistance in palaeopolyploid soybean by whole genome resequencing [Genetics]

13-08-2013 | Xiangyang Xu; Liang Zeng; Ye Tao; Tri Vuong; Jinrong Wan; Roger Boerma; Jim Noe; Zenglu Li; Steve Finnerty; Safiulla ..., Proceedings of the National Academy of Sciences current issue, 2013

The objective of this study was to use next-generation sequencing technologies to dissect quantitative trait loci (QTL) for southern root-knot nematode (RKN) resistance into individual genes in soybean. Two hundred forty-six recombinant inbred lines (RIL) derived from a cross between Magellan ...

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Rates and patterns of great ape retrotransposition [Genetics]

13-08-2013 | Fereydoun Hormozdiari; Miriam K. Konkel; Javier Prado-Martinez; Giorgia Chiatante; Irene Hernando Herraez; Jerilyn A ..., Proceedings of the National Academy of Sciences current issue, 2013

We analyzed 83 fully sequenced great ape genomes for mobile element insertions, predicting a total of 49,452 fixed and polymorphic Alu and long interspersed element 1 (L1) insertions not present in the human reference assembly and assigning each retrotransposition event to a different time point ...

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Lariat sequencing in a unicellular yeast identifies regulated alternative splicing of exons that are evolutionarily conserved with humans [Genetics]

30-07-2013 | Ali R. Awan; Amanda Manfredo; Jeffrey A. Pleiss, Proceedings of the National Academy of Sciences current issue, 2013

Alternative splicing is a potent regulator of gene expression that vastly increases proteomic diversity in multicellular eukaryotes and is associated with organismal complexity. Although alternative splicing is widespread in vertebrates, little is known about the evolutionary origins of this ...

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Two-codon T-box riboswitch binding two tRNAs [Genetics]

30-07-2013 | Nizar Y. Saad; Vassiliki Stamatopoulou; Mélanie Brayé; Denis Drainas; Constantinos Stathopoulos; Hubert Dominique Becker, Proceedings of the National Academy of Sciences current issue, 2013

T-box riboswitches control transcription of downstream genes through the tRNA-binding formation of terminator or antiterminator structures. Previously reported T-boxes were described as single-specificity riboswitches that can bind specific tRNA anticodons through codon–anticodon interactions ...

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Biclustering with heterogeneous variance [Genetics]

23-07-2013 | Guanhua Chen; Patrick F. Sullivan; Michael R. Kosorok, Proceedings of the National Academy of Sciences current issue, 2013

In cancer research, as in all of medicine, it is important to classify patients into etiologically and therapeutically relevant subtypes to improve diagnosis and treatment. One way to do this is to use clustering methods to find subgroups of homogeneous individuals based on genetic profiles ...

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