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

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matching the following criteria

Prehistoric genomes reveal the genetic foundation and cost of horse domestication [Evolution]

30-Dec-2014 | Mikkel Schubert; Hákon Jónsson; Dan Chang; Clio Der Sarkissian; Luca Ermini; Aurélien Ginolhac; Anders Albrechtsen; ..., Proceedings of the National Academy of Sciences current issue, 2014

The domestication of the horse ∼5.5 kya and the emergence of mounted riding, chariotry, and cavalry dramatically transformed human civilization. However, the genetics underlying horse domestication are difficult to reconstruct, given the near extinction of wild horses. We therefore sequenced two ...

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TORC1 regulators Iml1/GATOR1 and GATOR2 control meiotic entry and oocyte development in Drosophila [Genetics]

30-Dec-2014 | Youheng Wei; Brad Reveal; John Reich; Willem J. Laursen; Stefania Senger; Tanveer Akbar; Takako Iida-Jones; Weili Ca ..., Proceedings of the National Academy of Sciences current issue, 2014

In single-cell eukaryotes the pathways that monitor nutrient availability are central to initiating the meiotic program and gametogenesis. In Saccharomyces cerevisiae an essential step in the transition to the meiotic cycle is the down-regulation of the nutrient-sensitive target of rapamycin ...

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Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease [Genetics]

23-Dec-2014 | Hilal Unal Gulsuner; Suleyman Gulsuner; Fatma Nazli Mercan; Onur Emre Onat; Tom Walsh; Hashem Shahin; Ming K. Lee; O ..., Proceedings of the National Academy of Sciences current issue, 2014

Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation ...

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Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms [Genetics]

16-Dec-2014 | Raajit Rampal; Jihae Ahn; Omar Abdel-Wahab; Michelle Nahas; Kai Wang; Doron Lipson; Geoff A. Otto; Roman Yelensky; T ..., Proceedings of the National Academy of Sciences current issue, 2014

Patients with myeloproliferative neoplasms (MPNs) are at significant, cumulative risk of leukemic transformation to acute myeloid leukemia (AML), which is associated with adverse clinical outcome and resistance to standard AML therapies. We performed genomic profiling of post-MPN AML samples; ...

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Control of metabolic adaptation to fasting by dILP6-induced insulin signaling in Drosophila oenocytes [Genetics]

16-Dec-2014 | Debamita Chatterjee; Subhash D. Katewa; Yanyan Qi; Susan A. Jackson; Pankaj Kapahi; Heinrich Jasper, Proceedings of the National Academy of Sciences current issue, 2014

Metabolic adaptation to changing dietary conditions is critical to maintain homeostasis of the internal milieu. In metazoans, this adaptation is achieved by a combination of tissue-autonomous metabolic adjustments and endocrine signals that coordinate the mobilization, turnover, and storage of ...

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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency [Genetics]

16-Dec-2014 | Ravikumar Balasubramanian; Jin-Ho Choi; Ludmila Francescatto; Jason Willer; Edward R. Horton; Eleni P. Asimacopoulos ..., Proceedings of the National Academy of Sciences current issue, 2014

Inactivating mutations in chromodomain helicase DNA binding protein 7 (CHD7) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is a minor feature. Recent reports have described predominantly missense CHD7 alleles in ...

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Measuring missing heritability: Inferring the contribution of common variants [Genetics]

09-Dec-2014 | David Golan; Eric S. Lander; Saharon Rosset, Proceedings of the National Academy of Sciences current issue, 2014

Genome-wide association studies (GWASs), also called common variant association studies (CVASs), have uncovered thousands of genetic variants associated with hundreds of diseases. However, the variants that reach statistical significance typically explain only a small fraction of the ...

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Comparison of the transcriptional landscapes between human and mouse tissues [Genetics]

02-Dec-2014 | Shin Lin; Yiing Lin; Joseph R. Nery; Mark A. Urich; Alessandra Breschi; Carrie A. Davis; Alexander Dobin; Christophe ..., Proceedings of the National Academy of Sciences current issue, 2014

Although the similarities between humans and mice are typically highlighted, morphologically and genetically, there are many differences. To better understand these two species on a molecular level, we performed a comparison of the expression profiles of 15 tissues by deep RNA sequencing and ...

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High-throughput optical quantification of mechanosensory habituation reveals neurons encoding memory in Caenorhabditis elegans [Genetics]

02-Dec-2014 | Takuma Sugi; Yasuko Ohtani; Yuta Kumiya; Ryuji Igarashi; Masahiro Shirakawa, Proceedings of the National Academy of Sciences current issue, 2014

A major goal of neuroscience studies is to identify the neurons and molecules responsible for memory. Mechanosensory habituation in Caenorhabditis elegans is a simple form of learning and memory, in which a circuit of several sensory neurons and interneurons governs behavior. However, despite the ...

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Simultaneous sequencing of oxidized methylcytosines produced by TET/JBP dioxygenases in Coprinopsis cinerea [Genetics]

02-Dec-2014 | Lukas Chavez; Yun Huang; Khai Luong; Suneet Agarwal; Lakshminarayan M. Iyer; William A. Pastor; Virginia K. Hench; S ..., Proceedings of the National Academy of Sciences current issue, 2014

TET/JBP enzymes oxidize 5-methylpyrimidines in DNA. In mammals, the oxidized methylcytosines (oxi-mCs) function as epigenetic marks and likely intermediates in DNA demethylation. Here we present a method based on diglucosylation of 5-hydroxymethylcytosine (5hmC) to simultaneously map 5hmC, ...

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