Precise detection of de novo single nucleotide variants in human genomes.

abstract：:Mutational activation of the Ras oncogene products (H-Ras, K-Ras, and N-Ras) is frequently observed in human cancers, making them promising anticancer drug targets. Nonetheless, no effective strategy has been available for the development of Ras inhibitors, partly owing to the absence of well-defined surface pockets s...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Shima F,Yoshikawa Y,Ye M,Araki M,Matsumoto S,Liao J,Hu L,Sugimoto T,Ijiri Y,Takeda A,Nishiyama Y,Sato C,Muraoka S,Tamura A,Osoda T,Tsuda K,Miyakawa T,Fukunishi H,Shimada J,Kumasaka T,Yamamoto M,Kataoka T

更新日期：2013-05-14 00:00:00

abstract：:We report the development of a practical ultrafast allelic profiling assay for the analysis of short tandem repeats (STRs) by using a highly optimized microfluidic electrophoresis device. We have achieved baseline-resolved electrophoretic separations of single-locus STR samples in 30 sec. Analyses of PCR samples conta...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Schmalzing D,Koutny L,Adourian A,Belgrader P,Matsudaira P,Ehrlich D

更新日期：1997-09-16 00:00:00

abstract：:The DEMETER (DME) DNA glycosylase initiates active DNA demethylation via the base-excision repair pathway and is vital for reproduction in Arabidopsis thaliana DME-mediated DNA demethylation is preferentially targeted to small, AT-rich, and nucleosome-depleted euchromatic transposable elements, influencing expression ...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Park JS,Frost JM,Park K,Ohr H,Park GT,Kim S,Eom H,Lee I,Brooks JS,Fischer RL,Choi Y

更新日期：2017-02-21 00:00:00

abstract：:Agrobacterium tumefaciens harboring the tumor-inducing Ti plasmid incites crown gall tumor on dicotyledonous species. Upon infection of these plants, Ti plasmid DNA sequence is stably transferred (T-DNA) by unknown mechanisms to plant cells to be integrated into nuclear DNA. The T-DNA processing and transfer require t...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Usami S,Okamoto S,Takebe I,Machida Y

更新日期：1988-06-01 00:00:00

abstract：:Adenosine 3':5'-cyclic monophosphate (cAMP) and guanosine 3':5'-cyclic monophosphate (cGMP) were localized in cells of rat kidney cortex by an immunocytochemical technique before and after perfusion with parathyroid hormone (PTH). In control tissues the cAMP antiserum detected approximately the same intensity of fluor...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Dousa TP,Barnes LD,Ong SH,Steiner AL

更新日期：1977-08-01 00:00:00

abstract：:The his4 region of yeast contains the information necessary for the catalysis of three steps in the histidine biosynthetic pathway. The three activities specified by this region remain physically associated during gel filtration and ultracentrifugation and after extensive purification. Nonsense mutations in the "opera...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Shaffer B,Rytka J,Fink GR

更新日期：1969-08-01 00:00:00

abstract：:Tactile-foraging ducks are specialist birds known for their touch-dependent feeding behavior. They use dabbling, straining, and filtering to find edible matter in murky water, relying on the sense of touch in their bill. Here, we present the molecular characterization of embryonic duck bill, which we show contains a h...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Schneider ER,Anderson EO,Mastrotto M,Matson JD,Schulz VP,Gallagher PG,LaMotte RH,Gracheva EO,Bagriantsev SN

更新日期：2017-12-05 00:00:00

abstract：:The human amygdala plays a key role in recognizing facial emotions and neurons in the monkey and human amygdala respond to the emotional expression of faces. However, it remains unknown whether these responses are driven primarily by properties of the stimulus or by the perceptual judgments of the perceiver. We invest...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Wang S,Tudusciuc O,Mamelak AN,Ross IB,Adolphs R,Rutishauser U

更新日期：2014-07-29 00:00:00

abstract：:Understanding the relationship between the structural and functional organization of the human brain is one of the most important goals of neuroscience. Individual variability in brain structure means that it is essential to obtain this information from the same subject. To date, this has been almost impossible. Even ...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Walters NB,Egan GF,Kril JJ,Kean M,Waley P,Jenkinson M,Watson JD

更新日期：2003-03-04 00:00:00

abstract：:This paper explores the explanations for, and consequences of, the early appearance of food production outside the Fertile Crescent of Southwest Asia, where it originated in the 10th/9th millennia cal BC. We present evidence that cultivation appeared in Central Anatolia through adoption by indigenous foragers in the m...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Baird D,Fairbairn A,Jenkins E,Martin L,Middleton C,Pearson J,Asouti E,Edwards Y,Kabukcu C,Mustafaoğlu G,Russell N,Bar-Yosef O,Jacobsen G,Wu X,Baker A,Elliott S

更新日期：2018-04-03 00:00:00

abstract：:We have tested the effect of increased ribosomal fidelity on a modified version of the programmed release factor 2 (RF2) translational frameshift. In the constructs tested, the original UGA codon at the site of the shift was replaced by either of two sense codons, UGG (tryptophan), which allows a frameshift of approxi...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Sipley J,Goldman E

更新日期：1993-03-15 00:00:00

abstract：:Six groups of Munich-Wistar rats underwent micropuncture study 2-10 weeks and morphologic studies 11-13 months after induction of streptozotocin diabetes or after sham treatment. Diabetic rats received diets containing 6% (group D6), 12% (D12), or 50% protein (D50) and were maintained under similar conditions of moder...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Zatz R,Meyer TW,Rennke HG,Brenner BM

更新日期：1985-09-01 00:00:00

abstract：:Mutations are a hallmark of cancer. Normal cells minimize spontaneous mutations through the combined actions of polymerase base selectivity, 3' --> 5' exonucleolytic proofreading, mismatch correction, and DNA damage repair. To determine the consequences of defective proofreading in mammals, we created mice with a poin...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Goldsby RE,Hays LE,Chen X,Olmsted EA,Slayton WB,Spangrude GJ,Preston BD

更新日期：2002-11-26 00:00:00

abstract：:The search for ever deeper relationships among the World's languages is bedeviled by the fact that most words evolve too rapidly to preserve evidence of their ancestry beyond 5,000 to 9,000 y. On the other hand, quantitative modeling indicates that some "ultraconserved" words exist that might be used to find evidence ...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Pagel M,Atkinson QD,S Calude A,Meade A

更新日期：2013-05-21 00:00:00

abstract：:WE REEXAMINED TWO QUESTIONS CONCERNING LYT ANTIGENS OF CYTOTOXIC T CELLS OF THE MOUSE: is Lyt-1 antigen expressed on cytotoxic effector cells and can cytotoxicity be blocked by antibody to Lyt antigens in the absence of added complement? A 3-hr (51)Cr-release assay with splenic effector cells and leukemia or myeloma t...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Nakayama E,Shiku H,Stockert E,Oettgen HF,Old LJ

更新日期：1979-04-01 00:00:00

abstract：:Identification of the consensus sequence for termination of replication (ter) in Escherichia coli and the isolation of the ter-binding protein (TBP) allowed us to test their effects on replication forks initiated at the unique origin of the E. coli chromosome (oriC) in a purified enzyme system. Replication was severel...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Lee EH,Kornberg A,Hidaka M,Kobayashi T,Horiuchi T

更新日期：1989-12-01 00:00:00

abstract：:The nucleotide sequences of eight origin-defective mutants of simian virus 40 have been determined. All of the mutants have suffered deletions, which range in size from 4 to 241 nucleotides. Some of the mutants induce the synthesis of tumor (T) antigen, others do not. Viral mRNA extracted from rat cells transformed by...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Gluzman Y,Sambrook JF,Frisque RJ

更新日期：1980-07-01 00:00:00

abstract：:The influence of the rare initiation triplet AUU on mRNA translation was investigated by comparing the activity of two pairs of model mRNAs that differ in the length of Shine-Dalgarno and spacer sequences. Irrespective of the initiation triplet (AUG or AUU), all mRNAs had similar template activity in vitro, but transl...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： La Teana A,Pon CL,Gualerzi CO

更新日期：1993-05-01 00:00:00

abstract：:Photochemical oxidation of aromatic hydrocarbons leads to tropospheric ozone and secondary organic aerosol (SOA) formation, with profound implications for air quality, human health, and climate. Toluene is the most abundant aromatic compound under urban environments, but its detailed chemical oxidation mechanism remai...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Ji Y,Zhao J,Terazono H,Misawa K,Levitt NP,Li Y,Lin Y,Peng J,Wang Y,Duan L,Pan B,Zhang F,Feng X,An T,Marrero-Ortiz W,Secrest J,Zhang AL,Shibuya K,Molina MJ,Zhang R

更新日期：2017-08-01 00:00:00

abstract：:A novel OTX-related homeodomain transcription factor has been identified on the basis of its ability to interact with the transactivation domain of the pituitary-specific POU domain protein, Pit-1. This factor, referred to as P-OTX (pituitary OTX-related factor), is expressed in primordial Rathke's pouch, oral epithel...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Szeto DP,Ryan AK,O'Connell SM,Rosenfeld MG

更新日期：1996-07-23 00:00:00

abstract：:Inhibition of eicosanoid formation in larvae of the tobacco hornworm Manduca sexta, using specific inhibitors of phospholipase A2, cyclooxygenase, and lipoxygenase, severely weakened the ability of larvae to clear the bacterium Serratia marscescens from their hemolymph. The reduced capability to remove bacteria is ass...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Stanley-Samuelson DW,Jensen E,Nickerson KW,Tiebel K,Ogg CL,Howard RW

更新日期：1991-02-01 00:00:00

abstract：:Vasectomy is a well accepted global contraceptive approach frequently associated with epididymal granuloma and sperm autoantibody formation. To understand the long-term sequelae of vasectomy, we investigated the early immune response in vasectomized mice. Vasectomy leads to rapid epithelial cell apoptosis and necrosis...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Wheeler K,Tardif S,Rival C,Luu B,Bui E,Del Rio R,Teuscher C,Sparwasser T,Hardy D,Tung KS

更新日期：2011-05-03 00:00:00

abstract：:A technique involving 5-bromodeoxyuridine, 33258 Hoechst, and fluorescence microscopy has been used to analyze replication kinetics in cells from embryonic and adult mice bearing the Cattanach [T(X;7)ICt] translocation in a balanced or an unbalanced form. In balanced 9- and 13-day female embryos, the translocated X wa...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Disteche CM,Eicher EM,Latt SA

更新日期：1979-10-01 00:00:00

abstract：:A computational model is presented that can be used as a tool in the design of safer chemicals. This model predicts the rate of hydrogen-atom abstraction by cytochrome P450 enzymes. Excellent correlations between biotransformation rates and the calculated activation energies (delta Hact) of the cytochrome P450-mediate...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Yin H,Anders MW,Korzekwa KR,Higgins L,Thummel KE,Kharasch ED,Jones JP

更新日期：1995-11-21 00:00:00

abstract：:It is not yet clear how bacterial outer membrane proteins reach their correct destination after they are secreted across the cytoplasmic membrane. We show here that porin OmpF is secreted into the medium as a water-soluble monomeric protein by spheroplasts of Escherichia coli. Furthermore, this monomeric porin is take...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Sen K,Nikaido H

更新日期：1990-01-01 00:00:00

abstract：:The Skp1-Cullin1 F-box protein-Fbw7 ubiquitin ligase regulates phosphorylation-dependent cyclin E degradation, and disruption of this pathway is associated with genetic instability and tumorigenesis. Fbw7 is a human tumor suppressor that is targeted for mutation in primary cancers. However, mechanisms other than mutat...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Minella AC,Welcker M,Clurman BE

更新日期：2005-07-05 00:00:00

abstract：:Located within the brain's ventricles, the choroid plexus produces cerebrospinal fluid and forms an important barrier between the central nervous system and the blood. For unknown reasons, the choroid plexus produces high levels of the protein klotho. Here, we show that these levels naturally decline with aging. Deple...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Zhu L,Stein LR,Kim D,Ho K,Yu GQ,Zhan L,Larsson TE,Mucke L

更新日期：2018-11-27 00:00:00

abstract：:The plasma iron turnover was measured in 19 normal subjects. A correlation was found between plasma iron concentration and plasma iron turnover. In addition to the turnover of 55Fe at normal plasma iron concentration (predominantly monoferric transferrin), a second turnover in which the labeled plasma was saturated wi...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Skarberg K,Eng M,Huebers H,Marsaglia G,Finch C

更新日期：1978-03-01 00:00:00

abstract：:Branched polyethylenimine (PEI) chains with an average molecular mass of 2 kDa (PEI2) have been covalently attached to gold nanoparticles (GNPs), and the potency of the resulting PEI2-GNPs conjugates as vectors for the delivery of plasmid DNA into monkey kidney (COS-7) cells in the presence of serum in vitro has been ...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Thomas M,Klibanov AM

更新日期：2003-08-05 00:00:00

abstract：:The biological activity of the transcription factor NF-kappaB is differentially controlled by three IkappaB proteins, Ikappa Balpha, Ikappa Bbeta, and Ikappa Bepsilon. We have examined the molecular basis for the differential inhibitory strengths of IkappaB proteins by constructing hybrid IkappaBs and found that the f...

journal_title：Proceedings of the National Academy of Sciences of the United States of America

authors： Simeonidis S,Stauber D,Chen G,Hendrickson WA,Thanos D

更新日期：1999-01-05 00:00:00