Experts and Doctors on mutation in Evanston, Illinois, United States

Summary

Locale: Evanston, Illinois, United States
Topic: mutation

Top Publications

  1. Kiriukhin M, Debabov D, Shinabarger D, Neuhaus F. Biosynthesis of the glycolipid anchor in lipoteichoic acid of Staphylococcus aureus RN4220: role of YpfP, the diglucosyldiacylglycerol synthase. J Bacteriol. 2001;183:3506-14 pubmed publisher
    ..Each of these phenotypes may be correlated with either (or both) a deficiency of free glycolipid in the membrane or the replacement of the usual glycolipid anchor of LTA with diacylglycerol...
  2. deHart A, Schnell J, Allen D, Tsai J, Hicke L. Receptor internalization in yeast requires the Tor2-Rho1 signaling pathway. Mol Biol Cell. 2003;14:4676-84 pubmed
    ..These findings reveal a novel function for the Tor2-Rho1 pathway in controlling endocytosis in yeast, a function that is mediated in part through the plasma membrane protein Fks1. ..
  3. Wernimont A, Yatsunyk L, Rosenzweig A. Binding of copper(I) by the Wilson disease protein and its copper chaperone. J Biol Chem. 2004;279:12269-76 pubmed
    ..Thus, the individual functions of the six WND metal-binding domains are not conferred by different Cu(I) affinities but instead by fold and electrostatic surface properties. ..
  4. Bissonnette M, Donald J, Degrado W, Jardetzky T, Lamb R. Functional analysis of the transmembrane domain in paramyxovirus F protein-mediated membrane fusion. J Mol Biol. 2009;386:14-36 pubmed publisher
    ..We suggest that the unusual length of this TM helix might allow it to serve as a template for formation of or specifically stabilize the lipid stalk intermediate in fusion. ..
  5. Chappell P, Lydon J, Conneely O, O Malley B, Levine J. Endocrine defects in mice carrying a null mutation for the progesterone receptor gene. Endocrinology. 1997;138:4147-52 pubmed
  6. Russell C, Jardetzky T, Lamb R. Conserved glycine residues in the fusion peptide of the paramyxovirus fusion protein regulate activation of the native state. J Virol. 2004;78:13727-42 pubmed
    ..Glycine residues in the FPs of other class I vFGPs may also regulate fusion activation. ..
  7. Olejniczak M, Dale T, Fahlman R, Uhlenbeck O. Idiosyncratic tuning of tRNAs to achieve uniform ribosome binding. Nat Struct Mol Biol. 2005;12:788-93 pubmed
    ..This suggests that each tRNA sequence has coevolved with its anticodon to tune ribosome affinity to a value that is the same for all tRNAs. ..
  8. Gidalevitz T, Ben Zvi A, Ho K, Brignull H, Morimoto R. Progressive disruption of cellular protein folding in models of polyglutamine diseases. Science. 2006;311:1471-4 pubmed
    ..Thus, weak folding mutations throughout the genome can function as modifiers of polyglutamine phenotypes and toxicity. ..
  9. Ludlow L, Lo M, Rodriguez J, Rota P, Horvath C. Henipavirus V protein association with Polo-like kinase reveals functional overlap with STAT1 binding and interferon evasion. J Virol. 2008;82:6259-71 pubmed publisher
    ..Therefore, mutations targeting V protein-mediated IFN evasion will not alter the RNA synthetic capacity of the virus, supporting an attenuation strategy based on disrupting host protein interactions. ..

More Information

Publications122 found, 100 shown here

  1. Yin H, Paterson R, Wen X, Lamb R, Jardetzky T. Structure of the uncleaved ectodomain of the paramyxovirus (hPIV3) fusion protein. Proc Natl Acad Sci U S A. 2005;102:9288-93 pubmed
    ..The transmembrane anchor domains of F may therefore profoundly influence the folding energetics that establish and maintain a metastable, prefusion state. ..
  2. Zokarkar A, Lamb R. The paramyxovirus fusion protein C-terminal region: mutagenesis indicates an indivisible protein unit. J Virol. 2012;86:2600-9 pubmed publisher
    ..Alanine scanning mutagenesis of MPER indicates that it has a regulatory role in fusion since both hyperfusogenic and hypofusogenic mutations were found. ..
  3. King R, Mohler D, Riley S, Storto P, Nicolazzo P. Complementation between alleles at the ovarian tumor locus of Drosophila melanogaster. Dev Genet. 1986;7:1-20 pubmed
  4. Dores M, Schnell J, Maldonado Baez L, Wendland B, Hicke L. The function of yeast epsin and Ede1 ubiquitin-binding domains during receptor internalization. Traffic. 2010;11:151-60 pubmed publisher
    ..Together, our results suggest that the ubiquitin-binding domains within the yeast epsin Ent2 and Ede1 are involved in the formation and regulation of the endocytic network. ..
  5. Sprinkle J, Hakvoort T, Koshy T, Miller D, Margoliash E. Amino acid sequence requirements for the association of apocytochrome c with mitochondria. Proc Natl Acad Sci U S A. 1990;87:5729-33 pubmed
    ..These results emphasize the wide disparity between the structural requirements for association with mitochondria and for the production of a functional holoprotein. ..
  6. Light W, Brickner D, Brand V, Brickner J. Interaction of a DNA zip code with the nuclear pore complex promotes H2A.Z incorporation and INO1 transcriptional memory. Mol Cell. 2010;40:112-25 pubmed publisher
    ..Thus, interaction of recently repressed INO1 with the NPC alters its chromatin structure and rate of reactivation...
  7. Slusarski D, Motzny C, Holmgren R. Mutations that alter the timing and pattern of cubitus interruptus gene expression in Drosophila melanogaster. Genetics. 1995;139:229-40 pubmed
    ..Thus, proper regulation of both the ci mRNA and protein appears to be critical for normal Drosophila development. ..
  8. King D, Zhao Y, Sangoram A, Wilsbacher L, Tanaka M, Antoch M, et al. Positional cloning of the mouse circadian clock gene. Cell. 1997;89:641-53 pubmed
    ..CLOCK represents the second example of a PAS domain-containing clock protein (besides Drosophila PERIOD), which suggests that this motif may define an evolutionarily conserved feature of the circadian clock mechanism. ..
  9. Sloper Mould K, Jemc J, Pickart C, Hicke L. Distinct functional surface regions on ubiquitin. J Biol Chem. 2001;276:30483-9 pubmed
  10. Vogel K, Atchley D, Erlichman J, Broglio K, Ready K, Valero V, et al. BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model. J Clin Oncol. 2007;25:4635-41 pubmed
    ..The BRCAPRO model appears to perform equally well in Hispanics as in whites. ..
  11. Schrader J, Chapman S, Uhlenbeck O. Tuning the affinity of aminoacyl-tRNA to elongation factor Tu for optimal decoding. Proc Natl Acad Sci U S A. 2011;108:5215-20 pubmed publisher
    ..Consistent with available crystal structures, the identity of the esterified amino acid and three base pairs in the T stem of tRNA combine to define the affinity of each aa-tRNA for EF-Tu, both off and on the ribosome. ..
  12. Rebbeck T, Mitra N, Wan F, Healey S, McGuffog L, Chenevix Trench G, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015;313:1347-61 pubmed publisher
    ..With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of BRCA1 and BRCA2 mutations. ..
  13. Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
    ..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
  14. Gaber R, Styles C, Fink G. TRK1 encodes a plasma membrane protein required for high-affinity potassium transport in Saccharomyces cerevisiae. Mol Cell Biol. 1988;8:2848-59 pubmed
  15. Ipsaro J, MONDRAGON A. Structural basis for spectrin recognition by ankyrin. Blood. 2010;115:4093-101 pubmed publisher
    ..The structure represents not only the first of a spectrin fragment in complex with its binding partner, but also that of an intermolecular complex involving a ZU5 domain. ..
  16. Farbman A, Brann J, Rozenblat A, Rochlin M, Weiler E, Bhattacharyya M. Developmental expression of neurotrophin receptor genes in rat geniculate ganglion neurons. J Neurocytol. 2004;33:331-43 pubmed
    ..4) The pattern of neurotrophin receptor gene expression changed during development. (5) p75 expression occurred infrequently--in only 7 of the 212 neurons that gave a signal for any receptor. ..
  17. Meng Q, Logunova L, Maywood E, Gallego M, Lebiecki J, Brown T, et al. Setting clock speed in mammals: the CK1 epsilon tau mutation in mice accelerates circadian pacemakers by selectively destabilizing PERIOD proteins. Neuron. 2008;58:78-88 pubmed publisher
  18. Takahashi J. Circadian clock genes are ticking. Science. 1992;258:238-40 pubmed
  19. Nair R, Green E, Watson D, Bennett G, Papoutsakis E. Regulation of the sol locus genes for butanol and acetone formation in Clostridium acetobutylicum ATCC 824 by a putative transcriptional repressor. J Bacteriol. 1999;181:319-30 pubmed
  20. Dunn R, Hicke L. Domains of the Rsp5 ubiquitin-protein ligase required for receptor-mediated and fluid-phase endocytosis. Mol Biol Cell. 2001;12:421-35 pubmed
    ..In addition, mutations in the C2 and WW1 domains had more severe defects on transport of fluid-phase markers to the vacuole than on receptor internalization, suggesting that Rsp5p functions at multiple steps in the endocytic pathway. ..
  21. Tesic M, Marsh J, Cullinan S, Gaber R. Functional interactions between Hsp90 and the co-chaperones Cns1 and Cpr7 in Saccharomyces cerevisiae. J Biol Chem. 2003;278:32692-701 pubmed
    ..Overall, our findings reveal a considerable degree of complexity in the interactions not only between Hsp90 and its co-chaperones, but also among the co-chaperones themselves. ..
  22. Luo Q, Viste K, Urday Zaa J, Senthil Kumar G, Tsai W, Talai A, et al. Mechanism of CREB recognition and coactivation by the CREB-regulated transcriptional coactivator CRTC2. Proc Natl Acad Sci U S A. 2012;109:20865-70 pubmed publisher
  23. Westbrook A, Lucks J. Achieving large dynamic range control of gene expression with a compact RNA transcription-translation regulator. Nucleic Acids Res. 2017;45:5614-5624 pubmed publisher
    ..We anticipate these regulators will find broad use as synthetic biology moves beyond parts engineering to the design and construction of more sophisticated regulatory networks. ..
  24. Hakim A, Barry C, Barnes H, Anderson K, Petitte J, Whitaker R, et al. Ovarian adenocarcinomas in the laying hen and women share similar alterations in p53, ras, and HER-2/neu. Cancer Prev Res (Phila). 2009;2:114-21 pubmed publisher
    ..Ras mutations are rare, similar to high-grade human ovarian cancers. HER-2/neu overexpression is common and may represent a marker to exclude an oviductal origin in cancers involving both the ovary and oviduct...
  25. Zhao W, Lacor P, Chen H, Lambert M, Quon M, Krafft G, et al. Insulin receptor dysfunction impairs cellular clearance of neurotoxic oligomeric a{beta}. J Biol Chem. 2009;284:18742-53 pubmed publisher
    ..Our results suggest that dysfunctions of brain insulin and IGF-1 receptors contribute to Abeta aggregation and subsequent synaptic loss. ..
  26. Kolker D, Vitaterna M, Fruechte E, Takahashi J, Turek F. Effects of age on circadian rhythms are similar in wild-type and heterozygous Clock mutant mice. Neurobiol Aging. 2004;25:517-23 pubmed
  27. Balasubramanian R, Smith S, Rawat S, Yatsunyk L, Stemmler T, Rosenzweig A. Oxidation of methane by a biological dicopper centre. Nature. 2010;465:115-9 pubmed publisher
    ..These findings help resolve the pMMO controversy and provide a promising new approach to developing environmentally friendly C-H oxidation catalysts. ..
  28. Hunn J, Rodriguez G. Ovarian cancer: etiology, risk factors, and epidemiology. Clin Obstet Gynecol. 2012;55:3-23 pubmed publisher
    ..In addition, we will discuss the epidemiology of ovarian cancer, including hereditary, reproductive, hormonal, inflammatory, dietary, surgical, and geographic factors that influence ovarian cancer risk. ..
  29. Lander R, Nasr T, Ochoa S, Nordin K, Prasad M, LaBonne C. Interactions between Twist and other core epithelial-mesenchymal transition factors are controlled by GSK3-mediated phosphorylation. Nat Commun. 2013;4:1542 pubmed publisher
    ..Together, these findings elucidate a mechanism for coordinated control of a group of structurally diverse factors that function as a regulatory unit in both developmental and pathological epithelial-mesenchymal transitions...
  30. Lear B, Lin J, Keath J, McGill J, Raman I, Allada R. The ion channel narrow abdomen is critical for neural output of the Drosophila circadian pacemaker. Neuron. 2005;48:965-76 pubmed
    ..In na mutants, expression of potassium currents and the key neuropeptide PDF are elevated, the latter consistent with reduced release. These data implicate NA and the pacemaker neural network in controlling phase and rhythmicity. ..
  31. Burkart A, Mukherjee A, Mayo K. Mechanism of repression of the inhibin alpha-subunit gene by inducible 3',5'-cyclic adenosine monophosphate early repressor. Mol Endocrinol. 2006;20:584-97 pubmed
    ..Thus, there is a temporal association of transcription factors bound to the inhibin alpha-CRE controlling inhibin alpha-subunit gene expression. ..
  32. Huang S, Ratliff K, Matouschek A. Protein unfolding by the mitochondrial membrane potential. Nat Struct Biol. 2002;9:301-7 pubmed
  33. Matsumoto G, Stojanovic A, Holmberg C, Kim S, Morimoto R. Structural properties and neuronal toxicity of amyotrophic lateral sclerosis-associated Cu/Zn superoxide dismutase 1 aggregates. J Cell Biol. 2005;171:75-85 pubmed
    ..Our results demonstrate that SOD1 G85R and G93A mutants form a distinct class of aggregate structures in cells destined for neuronal cell death. ..
  34. Laposky A, Bradley M, Williams D, Bass J, Turek F. Sleep-wake regulation is altered in leptin-resistant (db/db) genetically obese and diabetic mice. Am J Physiol Regul Integr Comp Physiol. 2008;295:R2059-66 pubmed publisher
    ..In summary, leptin may represent an important molecular component in the integration of sleep, circadian rhythms, and energy metabolism. ..
  35. Peterlongo P, Chang Claude J, Moysich K, Rudolph A, Schmutzler R, Simard J, et al. Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2015;24:308-16 pubmed publisher
    ..Genome-wide association studies have been more successful at identifying genetic modifiers of BRCA1/2 penetrance than candidate gene studies. ..
  36. Lee Y, Nakahara K, Pham J, Kim K, He Z, Sontheimer E, et al. Distinct roles for Drosophila Dicer-1 and Dicer-2 in the siRNA/miRNA silencing pathways. Cell. 2004;117:69-81 pubmed
    ..However, Dicer-1 but not Dicer-2 is essential for miRISC-directed translation repression. Thus, siRISCs and miRISCs are different with respect to Dicers in Drosophila. ..
  37. Kim K, Lee Y, Harris D, Nakahara K, Carthew R. The RNAi pathway initiated by Dicer-2 in Drosophila. Cold Spring Harb Symp Quant Biol. 2006;71:39-44 pubmed
    ..AGO2 is a RISC component that both carries out transcript cleavage and facilitates RISC maturation. Other factors appear to function as regulators of RISC assembly rather than as core factors for RNAi. ..
  38. Dutch R, Lamb R. Deletion of the cytoplasmic tail of the fusion protein of the paramyxovirus simian virus 5 affects fusion pore enlargement. J Virol. 2001;75:5363-9 pubmed
    ..However, enlargement of fusion pores is debilitated, suggesting that either the cytoplasmic tail of the F protein plays a direct role in pore expansion or that it interacts with other components which control pore growth. ..
  39. Deak L, Zheng J, Orem A, Du G, AguiƱaga S, Matsuda K, et al. Effects of cyclic nucleotides on the function of prestin. J Physiol. 2005;563:483-96 pubmed
    ..One of these sites may influence the membrane targeting process of prestin. Finally, a new topology map of prestin is proposed. ..
  40. Flores A, Unger V. Atox1 contains positive residues that mediate membrane association and aid subsequent copper loading. J Membr Biol. 2013;246:903-13 pubmed publisher
  41. Bellare P, Small E, Huang X, Wohlschlegel J, Staley J, Sontheimer E. A role for ubiquitin in the spliceosome assembly pathway. Nat Struct Mol Biol. 2008;15:444-51 pubmed publisher
    ..Finally, we show that the conserved splicing factor Prp8 is ubiquitinated within purified triple snRNPs. These results reveal a previously unknown ubiquitin-dependent mechanism for controlling the pre-mRNA splicing pathway. ..
  42. Nocek J, Knutson A, Xiong P, Co N, Hoffman B. Photoinitiated singlet and triplet electron transfer across a redesigned [myoglobin, cytochrome b5] interface. J Am Chem Soc. 2010;132:6165-75 pubmed publisher
    ..Most importantly, these measurements reveal the presence of fast photoinduced singlet ET across the protein-protein interface, (1)k(et) approximately 2 x 10(8) s(-1). ..
  43. Prahlad V, Morimoto R. Neuronal circuitry regulates the response of Caenorhabditis elegans to misfolded proteins. Proc Natl Acad Sci U S A. 2011;108:14204-9 pubmed publisher
    ..elegans to respond differently to acute stress such as heat shock, and chronic stress caused by the expression of misfolded proteins, suggesting that neuronal signaling determines the course of cellular proteotoxicity. ..
  44. Prahlad V, Cornelius T, Morimoto R. Regulation of the cellular heat shock response in Caenorhabditis elegans by thermosensory neurons. Science. 2008;320:811-4 pubmed publisher
    ..We propose a model whereby this loss of cell autonomy serves to integrate behavioral, metabolic, and stress-related responses to establish an organismal response to environmental change. ..
  45. Nokes R, Fields I, Collins R, FOLSCH H. Rab13 regulates membrane trafficking between TGN and recycling endosomes in polarized epithelial cells. J Cell Biol. 2008;182:845-53 pubmed publisher
    ..Importantly, proteins using a direct route from the TGN to the plasma membrane are not affected. Thus, Rab13 appears to regulate membrane trafficking between TGN and RE. ..
  46. Lees N, H nzelmann P, Hernandez H, Subramanian S, Schindelin H, Johnson M, et al. ENDOR spectroscopy shows that guanine N1 binds to [4Fe-4S] cluster II of the S-adenosylmethionine-dependent enzyme MoaA: mechanistic implications. J Am Chem Soc. 2009;131:9184-5 pubmed publisher
  47. Lim C, Allada R. ATAXIN-2 activates PERIOD translation to sustain circadian rhythms in Drosophila. Science. 2013;340:875-9 pubmed publisher
    ..Thus, ATX2 coordinates an active translation complex important for PER expression and circadian rhythms. ..
  48. Trombly M, Su H, Wang X. A genetic screen for components of the mammalian RNA interference pathway in Bloom-deficient mouse embryonic stem cells. Nucleic Acids Res. 2009;37:e34 pubmed publisher
    ..Using genetic rescue, we resolve an important controversy regarding the role of two phenylalanine residues in Ago2 activity. ..
  49. Miller B, Olson S, Turek F, Levine J, Horton T, Takahashi J. Circadian clock mutation disrupts estrous cyclicity and maintenance of pregnancy. Curr Biol. 2004;14:1367-73 pubmed
    ..Defining the mechanisms by which the Clock mutation disrupts reproductive function offers a model for understanding how circadian genes affect complex physiological systems. ..
  50. Meissner R, Kilman V, Lin J, Allada R. TIMELESS is an important mediator of CK2 effects on circadian clock function in vivo. J Neurosci. 2008;28:9732-40 pubmed publisher
    ..The period lengthening effects in Tik heterozygotes are reduced in a tim(UL) mutant that disrupts a putative CK2 phosphorylation site. Together, these data indicate that TIM is an important mediator of CK2 effects on circadian rhythms. ..
  51. Ahrens M, Li Y, Jiang H, Dudley A. Convergent extension movements in growth plate chondrocytes require gpi-anchored cell surface proteins. Development. 2009;136:3463-74 pubmed publisher
    ..Collectively, our data suggest that the distinct morphological features of the proliferative chondrocytes result from a convergent extension-like process that is regulated independently of chondrocyte maturation. ..
  52. Motzny C, Holmgren R. The Drosophila cubitus interruptus protein and its role in the wingless and hedgehog signal transduction pathways. Mech Dev. 1995;52:137-50 pubmed
    ..The role of ci in cell-cell signaling and pattern formation was examined in double mutants of ci with patched and zeste-white3/shaggy. ..
  53. King D, Vitaterna M, Chang A, Dove W, Pinto L, Turek F, et al. The mouse Clock mutation behaves as an antimorph and maps within the W19H deletion, distal of Kit. Genetics. 1997;146:1049-60 pubmed
    ..This antimorphic behavior of Clock strongly argues that Clock defines a gene centrally involved in the mammalian circadian system. ..
  54. Garman S, Wurzburg B, Tarchevskaya S, Kinet J, Jardetzky T. Structure of the Fc fragment of human IgE bound to its high-affinity receptor Fc epsilonRI alpha. Nature. 2000;406:259-66 pubmed
    ..The structure suggests new approaches to inhibiting the binding of IgE to Fc epsilonRI for the treatment of allergy and asthma. ..
  55. Low Zeddies S, Takahashi J. Chimera analysis of the Clock mutation in mice shows that complex cellular integration determines circadian behavior. Cell. 2001;105:25-42 pubmed
    ..Together, our results demonstrate that complex integration of cellular phenotypes determines the generation and expression of coherent circadian rhythms at the organismal level. ..
  56. Ostrowski S, Dierick H, Bejsovec A. Genetic control of cuticle formation during embryonic development of Drosophila melanogaster. Genetics. 2002;161:171-82 pubmed
  57. Shih S, Prag G, Francis S, Sutanto M, Hurley J, Hicke L. A ubiquitin-binding motif required for intramolecular monoubiquitylation, the CUE domain. EMBO J. 2003;22:1273-81 pubmed
    ..Thus, we conclude that the CUE motif is an evolutionarily conserved monoubiquitin-binding domain that mediates intramolecular monoubiquitylation. ..
  58. Lin J, Schroeder A, Allada R. In vivo circadian function of casein kinase 2 phosphorylation sites in Drosophila PERIOD. J Neurosci. 2005;25:11175-83 pubmed
    ..In many respects, mutation of these phosphorylation sites phenocopies mutation of the catalytic subunit of CK2. We propose that CK2 phosphorylation at these sites triggers PER nuclear localization. ..
  59. Burdette J, Kurley S, Kilen S, Mayo K, Woodruff T. Gonadotropin-induced superovulation drives ovarian surface epithelia proliferation in CD1 mice. Endocrinology. 2006;147:2338-45 pubmed
    ..Therefore, ovarian surface cell division in response to ovulation could contribute to ovarian cancer by proliferation-induced DNA mutations and transformed cell progression. ..
  60. Paul S, Palladino M, Beitel G. A pump-independent function of the Na,K-ATPase is required for epithelial junction function and tracheal tube-size control. Development. 2007;134:147-55 pubmed
    ..Strikingly, the rat alpha1 isoform has full junctional activity and can rescue Atpalpha-null mutants to viability, suggesting that the Na,K-ATPase has an evolutionarily conserved role in junction formation and function. ..
  61. Hilgenfeldt S, Erisken S, Carthew R. Physical modeling of cell geometric order in an epithelial tissue. Proc Natl Acad Sci U S A. 2008;105:907-11 pubmed publisher
  62. Coulam C, Wallis D, Weinstein J, Dasgupta D, Jeyendran R. Comparison of thrombophilic gene mutations among patients experiencing recurrent miscarriage and deep vein thrombosis. Am J Reprod Immunol. 2008;60:426-31 pubmed publisher
    ..Screening for risk factors for inherited thrombophilia with only polymorphisms for factor V von Leiden, factor II prothrombin and MTHFR may be missing the more prevalent identifiers of jeopardy. ..
  63. Feng H, Hossain M, Huang X, Jin J. Myofilament incorporation determines the stoichiometry of troponin I in transgenic expression and the rescue of a null mutation. Arch Biochem Biophys. 2009;487:36-41 pubmed publisher
    ..Altogether, these observations suggest that under wide ranges of protein synthesis and turnover, myofilament incorporation determines the stoichiometry of troponin subunits in muscle cells. ..
  64. Sharpe Elles L, Sykes M, Williamson J, Uhlenbeck O. A dominant negative mutant of the E. coli RNA helicase DbpA blocks assembly of the 50S ribosomal subunit. Nucleic Acids Res. 2009;37:6503-14 pubmed publisher
    ..Overexpression of the inactive DbpA R331A mutant appears to block assembly at a late stage when the peptidyl transferase center is formed, indicating a possible role for DbpA promoting this conformational change. ..
  65. Zhang L, Chung B, Lear B, Kilman V, Liu Y, Mahesh G, et al. DN1(p) circadian neurons coordinate acute light and PDF inputs to produce robust daily behavior in Drosophila. Curr Biol. 2010;20:591-9 pubmed publisher
    ..The fruit fly Drosophila exhibits clock-driven activity increases that anticipate dawn and dusk and free-running rhythms under constant conditions. Flies also respond to the onset of light and dark with acute increases in activity...
  66. Sahasrabuddhe A, Dimri M, Bommi P, Dimri G. ?TrCP regulates BMI1 protein turnover via ubiquitination and degradation. Cell Cycle. 2011;10:1322-30 pubmed
    ..In summary, our findings suggest that ?TrCP regulates turnover of BMI1 and its function relevant to oncogenesis, cellular senescence and aging. ..
  67. Pfeiffenberger C, Allada R. Cul3 and the BTB adaptor insomniac are key regulators of sleep homeostasis and a dopamine arousal pathway in Drosophila. PLoS Genet. 2012;8:e1003003 pubmed publisher
    ..Taken together, these results establish inc and Cul3 as important new players in setting the sleep homeostat and a dopaminergic arousal pathway in Drosophila...
  68. Vidal M, Buckley A, Hilger F, Gaber R. Direct selection for mutants with increased K+ transport in Saccharomyces cerevisiae. Genetics. 1990;125:313-20 pubmed
    ..rpd1 maps near pho80 on chromosome XV and rpd3 maps on the left arm of chromosome XIV, closely linked to kre1. ..
  69. Godfrey P, Rahal J, Beamer W, Copeland N, Jenkins N, Mayo K. GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat Genet. 1993;4:227-32 pubmed
    ..Similar alterations in GHRHR might explain some isolated GH deficiencies in humans. ..
  70. Hayden M, Huang I, Iliopoulos G, Orozco M, Ashley G. Biosynthesis of lipoic acid: characterization of the lipoic acid auxotrophs Escherichia coli W1485-lip2 and JRG33-lip9. Biochemistry. 1993;32:3778-82 pubmed
    ..These results support the hypothesis that lipA is involved in the sulfur insertion step(s) of lipoate biosynthesis and indicate that it is possible to selectively block formation of the C8-S bond through suitable mutation in lipA. ..
  71. Ma G, Roth M, Groskopf J, Tsai F, Orkin S, Grosveld F, et al. GATA-2 and GATA-3 regulate trophoblast-specific gene expression in vivo. Development. 1997;124:907-14 pubmed
  72. Lin J, Kilman V, Keegan K, Paddock B, Emery Le M, Rosbash M, et al. A role for casein kinase 2alpha in the Drosophila circadian clock. Nature. 2002;420:816-20 pubmed
    ..These effects are probably direct, as CK2alpha specifically phosphorylates Per in vitro. We propose that CK2 is an evolutionary link between the divergent circadian systems of animals, plants and fungi. ..
  73. Perry K, MONDRAGON A. Structure of a complex between E. coli DNA topoisomerase I and single-stranded DNA. Structure. 2003;11:1349-58 pubmed
    ..The structure helps clarify the temporal sequence of conformational events, starting from an initial empty enzyme and proceeding to a ssDNA-occupied and catalytically competent active site. ..
  74. Vitaterna M, Ko C, Chang A, Buhr E, Fruechte E, Schook A, et al. The mouse Clock mutation reduces circadian pacemaker amplitude and enhances efficacy of resetting stimuli and phase-response curve amplitude. Proc Natl Acad Sci U S A. 2006;103:9327-32 pubmed
    ..The increased efficacy of resetting stimuli and decreased PER expression amplitude can be explained in a unified manner by a model in which the Clock mutation reduces circadian pacemaker amplitude in the suprachiasmatic nuclei. ..
  75. Ipsaro J, Harper S, Messick T, Marmorstein R, MONDRAGON A, Speicher D. Crystal structure and functional interpretation of the erythrocyte spectrin tetramerization domain complex. Blood. 2010;115:4843-52 pubmed publisher
    ..The potential molecular effects of these mutations are described. ..
  76. Zhang J, Huang G, Dewan A, Feinstein P, Bozza T. Uncoupling stimulus specificity and glomerular position in the mouse olfactory system. Mol Cell Neurosci. 2012;51:79-88 pubmed publisher
    ..Our data demonstrate that the two functions of odorant receptors can be uncoupled, indicating that the mechanisms that map olfactory sensory inputs to glomeruli do so without regard to stimulus specificity. ..
  77. Vidal M, Gaber R. RPD3 encodes a second factor required to achieve maximum positive and negative transcriptional states in Saccharomyces cerevisiae. Mol Cell Biol. 1991;11:6317-27 pubmed
    ..The effects of mutations in RPD1 and RPD3 are not additive, suggesting that these genes are involved in the same transcriptional regulatory function or pathway. ..
  78. Duina A, Chang H, Marsh J, Lindquist S, Gaber R. A cyclophilin function in Hsp90-dependent signal transduction. Science. 1996;274:1713-5 pubmed
    ..These results suggest that CyP-40 cyclophilins play a general role in Hsp90-dependent signal transduction pathways under normal growth conditions. ..
  79. deHart A, Schnell J, Allen D, Hicke L. The conserved Pkh-Ypk kinase cascade is required for endocytosis in yeast. J Cell Biol. 2002;156:241-8 pubmed
    ..These observations demonstrate that Ypk1 acts downstream of the Pkh kinases to control endocytosis by phosphorylating components of the endocytic machinery. ..
  80. Kourkine I, Hestekin C, Magnusdottir S, Barron A. Optimized sample preparation for tandem capillary electrophoresis single-stranded conformational polymorphism/ heteroduplex analysis. Biotechniques. 2002;33:318-20, 322, 324-5 pubmed
  81. Hong H, Chakravarti A, Takahashi J. The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. Proc Natl Acad Sci U S A. 2004;101:1748-53 pubmed
    ..The hyh mutant provides a valuable in vivo model to study vesicle/membrane trafficking and provides insight into the potential roles of alpha-SNAP in embryogenesis and brain development. ..
  82. Kim K, Lee Y, Carthew R. Conversion of pre-RISC to holo-RISC by Ago2 during assembly of RNAi complexes. RNA. 2007;13:22-9 pubmed
    ..We have also identified a new intermediate complex in the RISC assembly pathway, pre-RISC, in which Ago2 is stably bound to double-stranded siRNA. ..
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