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17,430 Newest Publications in proceedings of the national academy of sciences current issue

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Rare variants in neuronal excitability genes influence risk for bipolar disorder [Systems Biology]

17-Mar-2015 | Seth A. Ament; Szabolcs Szelinger; Gustavo Glusman; Justin Ashworth; Liping Hou; Nirmala Akula; Tatyana Shekhtman; J ..., Proceedings of the National Academy of Sciences current issue, 2015

We sequenced the genomes of 200 individuals from 41 families multiply affected with bipolar disorder (BD) to identify contributions of rare variants to genetic risk. We initially focused on 3,087 candidate genes with known synaptic functions or prior evidence from genome-wide association studies. ...

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Systematic discovery of regulated and conserved alternative exons in the mammalian brain reveals NMD modulating chromatin regulators [Genetics]

17-Mar-2015 | Qinghong Yan; Sebastien M. Weyn-Vanhentenryck; Jie Wu; Steven A. Sloan; Ye Zhang; Kenian Chen; Jia Qian Wu; Ben A. B ..., Proceedings of the National Academy of Sciences current issue, 2015

Alternative splicing (AS) dramatically expands the complexity of the mammalian brain transcriptome, but its atlas remains incomplete. Here we performed deep mRNA sequencing of mouse cortex to discover and characterize alternative exons with potential functional significance. Our analysis expands ...

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Myosin VI deafness mutation prevents the initiation of processive runs on actin [Biochemistry]

17-Mar-2015 | Olena Pylypenko; Lin Song; Ai Shima; Zhaohui Yang; Anne M. Houdusse; H. Lee Sweeney, Proceedings of the National Academy of Sciences current issue, 2015

Mutations in the reverse-direction myosin, myosin VI, are associated with deafness in humans and mice. A myosin VI deafness mutation, D179Y, which is in the transducer of the motor, uncoupled the release of the ATP hydrolysis product, inorganic phosphate (Pi), from dependency on actin binding and ...

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Pigeons trade efficiency for stability in response to level of challenge during confined flight [Biophysics and Computational Biology]

17-Mar-2015 | C. David Williams; Andrew A. Biewener, Proceedings of the National Academy of Sciences current issue, 2015

Individuals traversing challenging obstacles are faced with a decision: they can adopt traversal strategies that minimally disrupt their normal locomotion patterns or they can adopt strategies that substantially alter their gait, conferring new advantages and disadvantages. We flew pigeons ...

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Correction for Bartesaghi et al., Inhibition of oxidative metabolism leads to p53 genetic inactivation and transformation in neural stem cells [Corrections]

17-Mar-2015 | Proceedings of the National Academy of Sciences current issue, 2015

CELL BIOLOGY Correction for “Inhibition of oxidative metabolism leads to p53 genetic inactivation and transformation in neural stem cells,” by Stefano Bartesaghi, Vincenzo Graziano, Sara Galavotti, Nick V. Henriquez, Joanne Betts, Jayeta Saxena, Deli A, Anna Karlsson, L. Miguel Martins, Melania ...

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Boosting CRISPR/Cas9 multiplex editing capability with the endogenous tRNA-processing system [Plant Biology]

17-Mar-2015 | Kabin Xie; Bastian Minkenberg; Yinong Yang, Proceedings of the National Academy of Sciences current issue, 2015

The clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated protein 9 nuclease (Cas9) system is being harnessed as a powerful tool for genome engineering in basic research, molecular therapy, and crop improvement. This system uses a small guide RNA (gRNA) to direct ...

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Quorum-sensing Salmonella selectively trigger protein expression within tumors [Engineering]

17-Mar-2015 | Charles A. Swofford; Nele Van Dessel; Neil S. Forbes, Proceedings of the National Academy of Sciences current issue, 2015

Salmonella that secrete anticancer proteins have the potential to eliminate tumors, but nonspecific expression causes damage to healthy tissue. We hypothesize that Salmonella, integrated with a density-dependent switch, would only express proteins in tightly packed colonies within tumors. To test ...

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Salient features of otoacoustic emissions are common across tetrapod groups and suggest shared properties of generation mechanisms [Biophysics and Computational Biology]

17-Mar-2015 | Christopher Bergevin; Geoffrey A. Manley; Christine Köppl, Proceedings of the National Academy of Sciences current issue, 2015

Otoacoustic emissions (OAEs) are faint sounds generated by healthy inner ears that provide a window into the study of auditory mechanics. All vertebrate classes exhibit OAEs to varying degrees, yet the biophysical origins are still not well understood. Here, we analyzed both spontaneous (SOAE) ...

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PF-06463922 is a potent and selective next-generation ROS1/ALK inhibitor capable of blocking crizotinib-resistant ROS1 mutations [Medical Sciences]

17-Mar-2015 | Helen Y. Zou; Qiuhua Li; Lars D. Engstrom; Melissa West; Vicky Appleman; Katy A. Wong; Michele McTigue; Ya-Li Deng; ..., Proceedings of the National Academy of Sciences current issue, 2015

Oncogenic c-ros oncogene1 (ROS1) fusion kinases have been identified in a variety of human cancers and are attractive targets for cancer therapy. The MET/ALK/ROS1 inhibitor crizotinib (Xalkori, PF-02341066) has demonstrated promising clinical activity in ROS1 fusion-positive non-small cell lung ...

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The RNA binding protein FXR1 is a new driver in the 3q26-29 amplicon and predicts poor prognosis in human cancers [Medical Sciences]

17-Mar-2015 | Jun Qian; Mohamed Hassanein; Megan D. Hoeksema; Bradford K. Harris; Yong Zou; Heidi Chen; Pengcheng Lu; Rosana Eisen ..., Proceedings of the National Academy of Sciences current issue, 2015

Aberrant expression of RNA-binding proteins has profound implications for cellular physiology and the pathogenesis of human diseases such as cancer. We previously identified the Fragile X-Related 1 gene (FXR1) as one amplified candidate driver gene at 3q26-29 in lung squamous cell carcinoma ...

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