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

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matching the following criteria

Massively expedited genome-wide heritability analysis (MEGHA) [Statistics]

24-Feb-2015 | Tian Ge; Thomas E. Nichols; Phil H. Lee; Avram J. Holmes; Joshua L. Roffman; Randy L. Buckner; Mert R. Sabuncu; Jord ..., Proceedings of the National Academy of Sciences current issue, 2015

The discovery and prioritization of heritable phenotypes is a computational challenge in a variety of settings, including neuroimaging genetics and analyses of the vast phenotypic repositories in electronic health record systems and population-based biobanks. Classical estimates of heritability ...

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Constraints on the evolution of a doublesex target gene arising from doublesex's pleiotropic deployment [Genetics]

24-Feb-2015 | Shengzhan D. Luo; Bruce S. Baker, Proceedings of the National Academy of Sciences current issue, 2015

“Regulatory evolution,” that is, changes in a gene’s expression pattern through changes at its regulatory sequence, rather than changes at the coding sequence of the gene or changes of the upstream transcription factors, has been increasingly recognized as a pervasive evolution mechanism. Many ...

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Haploinsufficiency screen highlights two distinct groups of ribosomal protein genes essential for embryonic stem cell fate [Genetics]

17-Feb-2015 | Simon Fortier; Tara MacRae; Mélanie Bilodeau; Tobias Sargeant; Guy Sauvageau, Proceedings of the National Academy of Sciences current issue, 2015

In a functional genomics screen of mouse embryonic stem cells (ESCs) with nested hemizygous chromosomal deletions, we reveal that ribosomal protein (RP) genes are the most significant haploinsufficient determinants for embryoid body (EB) formation. Hemizygocity for three RP genes (Rps5, Rps14, or ...

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Profile of Brian Charlesworth [Profiles]

10-Feb-2015 | Jennifer Viegas, Proceedings of the National Academy of Sciences current issue, 2015

National Academy of Sciences foreign associate Brian Charlesworth has been at the forefront of evolutionary genetics research for the last four decades. Using theoretical ideas to design experiments and experimental data as a stimulant for the development of theory, Charlesworth investigates ...

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Real-time resolution of point mutations that cause phenovariance in mice [Genetics]

03-Feb-2015 | Tao Wang; Xiaowei Zhan; Chun-Hui Bu; Stephen Lyon; David Pratt; Sara Hildebrand; Jin Huk Choi; Zhao Zhang; Ming Zeng ..., Proceedings of the National Academy of Sciences current issue, 2015

With the wide availability of massively parallel sequencing technologies, genetic mapping has become the rate limiting step in mammalian forward genetics. Here we introduce a method for real-time identification of N-ethyl-N-nitrosourea-induced mutations that cause phenotypes in mice. All ...

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TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin [Genetics]

03-Feb-2015 | Lavinia Arseni; Manuela Lanzafame; Emmanuel Compe; Paola Fortugno; António Afonso-Barroso; Fiorenzo A. Peverali; Ala ..., Proceedings of the National Academy of Sciences current issue, 2015

Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinical entities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothiodystrophy (TTD), which share only cutaneous photosensitivity. Gene-expression profiles of ...

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T box riboswitches in Actinobacteria: Translational regulation via novel tRNA interactions [Genetics]

27-Jan-2015 | Anna V. Sherwood; Frank J. Grundy; Tina M. Henkin, Proceedings of the National Academy of Sciences current issue, 2015

The T box riboswitch regulates many amino acid-related genes in Gram-positive bacteria. T box riboswitch-mediated gene regulation was shown previously to occur at the level of transcription attenuation via structural rearrangements in the 5′ untranslated (leader) region of the mRNA in response to ...

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Correction for Rietveld et al., Common genetic variants associated with cognitive performance identified using the proxy-phenotype method [Correction]

27-Jan-2015 | Proceedings of the National Academy of Sciences current issue, 2015

PSYCHOLOGICAL AND COGNITIVE SCIENCES, GENETICS Correction for “Common genetic variants associated with cognitive performance identified using the proxy-phenotype method,” by Cornelius A. Rietveld, Tõnu Esko, Gail Davies, Tune H. Pers, Patrick Turley, Beben Benyamin, Christopher F. Chabris, Valur ...

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Control of stem cell self-renewal and differentiation by the heterochronic genes and the cellular asymmetry machinery in Caenorhabditis elegans [Genetics]

20-Jan-2015 | Omid F. Harandi; Victor R. Ambros, Proceedings of the National Academy of Sciences current issue, 2015

Transitions between asymmetric (self-renewing) and symmetric (proliferative) cell divisions are robustly regulated in the context of normal development and tissue homeostasis. To genetically assess the regulation of these transitions, we used the postembryonic epithelial stem (seam) cell lineages ...

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Cohort of birth modifies the association between FTO genotype and BMI [Genetics]

13-Jan-2015 | James Niels Rosenquist; Steven F. Lehrer; A. James O’Malley; Alan M. Zaslavsky; Jordan W. Smoller; Nicholas A. Chris ..., Proceedings of the National Academy of Sciences current issue, 2015

A substantial body of research has explored the relative roles of genetic and environmental factors on phenotype expression in humans. Recent research has also sought to identify gene–environment (or g-by-e) interactions, with mixed success. One potential reason for these mixed results may relate ...

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