Experts and Doctors on mutation in Tucson, Arizona, United States

Summary

Locale: Tucson, Arizona, United States
Topic: mutation

Top Publications

  1. Andersen J, Sanders D, Gasdaska J, Weichsel A, Powis G, Montfort W. Human thioredoxin homodimers: regulation by pH, role of aspartate 60, and crystal structure of the aspartate 60 --> asparagine mutant. Biochemistry. 1997;36:13979-88 pubmed
    ..The values obtained for Kapp suggest human thioredoxin may dimerize in vivo and possible roles for such dimers are discussed. ..
  2. Novak C, Fane B. The functions of the N terminus of the phiX174 internal scaffolding protein, a protein encoded in an overlapping reading frame in a two scaffolding protein system. J Mol Biol. 2004;335:383-90 pubmed
    ..Defects in conformational switching can be suppressed by substitutions in the external scaffolding protein, suggesting some redundancy of function between the two proteins...
  3. Wu Y, Murányi A, Erdodi F, Hartshorne D. Localization of myosin phosphatase target subunit and its mutants. J Muscle Res Cell Motil. 2005;26:123-34 pubmed
    ..Stable transfection of HEK 293 cells with GFP-MYPT1 was obtained. MYPT1 and its N-terminal mutants bound to retinoblastoma protein (Rb), raising the possibility that Rb is implicated in the effects caused by overexpression of MYPT1. ..
  4. Veeramah K, Johnstone L, Karafet T, Wolf D, Sprissler R, Salogiannis J, et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia. 2013;54:1270-81 pubmed publisher
  5. Nelson T, Sorgen P, Burt J. Carboxy terminus and pore-forming domain properties specific to Cx37 are necessary for Cx37-mediated suppression of insulinoma cell proliferation. Am J Physiol Cell Physiol. 2013;305:C1246-56 pubmed publisher
  6. Сhurbanov A, Karafet T, Morozov I, Mikhalskaia V, Zytsar M, Bondar A, et al. Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). PLoS ONE. 2016;11:e0153841 pubmed publisher
    ..Presumed association of RAI1 gene variant c.5254G>A with isolated HL needs to be proved by further experimental studies. ..
  7. Strop P, Changchien L, Maley F, Montfort W. Crystal structures of a marginally active thymidylate synthase mutant, Arg 126-->Glu. Protein Sci. 1997;6:2504-11 pubmed
    ..Interestingly, the protein displayed the typical ligand-induced conformational change, and the covalent bond to Cys 146 was present in one of the protein's two active sites. ..
  8. Norris S, Shen X, DellaPenna D. Complementation of the Arabidopsis pds1 mutation with the gene encoding p-hydroxyphenylpyruvate dioxygenase. Plant Physiol. 1998;117:1317-23 pubmed
    ..Together, these data conclusively demonstrate that pds1 is a mutation in the HPPDase structural gene. ..
  9. Chauhan S, Kunz S, Davis K, Roberts J, Martin G, Demetriou M, et al. Androgen control of cell proliferation and cytoskeletal reorganization in human fibrosarcoma cells: role of RhoB signaling. J Biol Chem. 2004;279:937-44 pubmed
    ..This was directly shown by transfecting HT-AR1 cells with RhoB coding sequences containing activating or dominant negative mutations. ..

More Information

Publications237 found, 100 shown here

  1. Pogson B, McDonald K, Truong M, Britton G, DellaPenna D. Arabidopsis carotenoid mutants demonstrate that lutein is not essential for photosynthesis in higher plants. Plant Cell. 1996;8:1627-39 pubmed
    ..Presumably, particular beta, beta-carotenoids are able to compensate functionally and structurally for lutein in the photosystems of Arabidopsis. ..
  2. Lee H, Xiong L, Ishitani M, Stevenson B, Zhu J. Cold-regulated gene expression and freezing tolerance in an Arabidopsis thaliana mutant. Plant J. 1999;17:301-8 pubmed
    ..However, the hos2-1 mutation does not impair the vernalization response. These results indicate that HOS2 is a negative regulator of low temperature signal transduction important for plant cold acclimation. ..
  3. Xiong L, Lee Bh -, Ishitani M, Lee H, Zhang C, Zhu J. FIERY1 encoding an inositol polyphosphate 1-phosphatase is a negative regulator of abscisic acid and stress signaling in Arabidopsis. Genes Dev. 2001;15:1971-84 pubmed
    ..These results provide the first genetic evidence indicating that phosphoinositols mediate ABA and stress signal transduction in plants and their turnover is critical for attenuating ABA and stress signaling. ..
  4. Sevilla M, Burris R, Gunapala N, Kennedy C. Comparison of benefit to sugarcane plant growth and 15N2 incorporation following inoculation of sterile plants with Acetobacter diazotrophicus wild-type and Nif- mutants strains. Mol Plant Microbe Interact. 2001;14:358-66 pubmed
    ..diazotrophicus. A 15N2 incorporation experiment demonstrated that A. diazotrophicus wild-type strains actively fixed N2 inside sugarcane plants, whereas the Nif- mutants did not...
  5. Cherwa J, Fane B. From resistance to stimulation: the evolution of a virus in the presence of a dominant lethal inhibitory scaffolding protein. J Virol. 2011;85:6589-93 pubmed publisher
    ..Thus, along with the coat protein mutations, stimulation required two external scaffolding protein genes: the once inhibitory gene and the mutant gene acquired during evolution...
  6. Passos D, Doma M, Shoemaker C, Muhlrad D, Green R, Weissman J, et al. Analysis of Dom34 and its function in no-go decay. Mol Biol Cell. 2009;20:3025-32 pubmed publisher
    ..We also provide evidence that the process of NGD is conserved in insect cells. On the basis of these results and the process of translation termination, we suggest a multistep model for the process of NGD. ..
  7. Weinert T. Cell biology. What a cell should know (but may not). Science. 2007;315:1374-5 pubmed
  8. Balagopal V, Parker R. Stm1 modulates mRNA decay and Dhh1 function in Saccharomyces cerevisiae. Genetics. 2009;181:93-103 pubmed publisher
    ..These results identify Stm1 as an additional component of the mRNA degradation machinery and suggest a possible connection of mRNA decapping to ribosome function...
  9. Luhtala N, Parker R. Structure-function analysis of Rny1 in tRNA cleavage and growth inhibition. PLoS ONE. 2012;7:e41111 pubmed publisher
    ..Biochemical flotation assays reveal that in rny1? cells, some tRNA molecules associate with membranes suggesting that cleavage of tRNAs by Rny1 can involve either tRNA association with, or uptake into, membrane compartments. ..
  10. Weichsel A, Gasdaska J, Powis G, Montfort W. Crystal structures of reduced, oxidized, and mutated human thioredoxins: evidence for a regulatory homodimer. Structure. 1996;4:735-51 pubmed
    ..The physiological role, if any, of thioredoxin dimer formation remains unknown. It is possible that dimerization may provide a mechanism for regulation of the protein, or a means of sensing oxidative stress. ..
  11. Dunckley T, Parker R. The DCP2 protein is required for mRNA decapping in Saccharomyces cerevisiae and contains a functional MutT motif. EMBO J. 1999;18:5411-22 pubmed
    ..These results suggest that direct or indirect interaction of Dcp1p with Dcp2p is required for the production of active decapping enzyme, perhaps in a process requiring the hydrolysis of a pyrophosphate bond. ..
  12. Guo Y, Halfter U, Ishitani M, Zhu J. Molecular characterization of functional domains in the protein kinase SOS2 that is required for plant salt tolerance. Plant Cell. 2001;13:1383-400 pubmed
    ..Combining the Thr(168)-to-Asp mutation with the autoinhibitory domain deletion created a superactive SOS2 kinase. These results provide insights into regulation of the kinase activities of SOS2 and the SOS2 family of protein kinases. ..
  13. Wang D, Zhang C, Hearn D, Kang I, Punwani J, Skaggs M, et al. Identification of transcription-factor genes expressed in the Arabidopsis female gametophyte. BMC Plant Biol. 2010;10:110 pubmed publisher
    ..Therefore, they might represent novel regulators and provide entry points for reverse genetic and molecular approaches to uncover the gene regulatory networks underlying female gametophyte development. ..
  14. Mun J, Kensler R, Harris S, Craig R. The cMyBP-C HCM variant L348P enhances thin filament activation through an increased shift in tropomyosin position. J Mol Cell Cardiol. 2016;91:141-7 pubmed publisher
    ..We conclude that the L348P mutation causes a gain of function by enhancing tropomyosin displacement on the thin filament in a phosphorylation-independent way. ..
  15. Uchiyama A, Chen M, Fane B. Characterization and function of putative substrate specificity domain in microvirus external scaffolding proteins. J Virol. 2007;81:8587-92 pubmed
    ..These second-site mutations appear to act on a kinetic level, shortening the lag phase before virion production, perhaps lowering the critical concentration of the chimeric protein required for a nucleation reaction...
  16. Honts J, Sandrock T, Brower S, O Dell J, Adams A. Actin mutations that show suppression with fimbrin mutations identify a likely fimbrin-binding site on actin. J Cell Biol. 1994;126:413-22 pubmed
    ..Together, these observations identify a likely site of interaction of fimbrin on actin. ..
  17. Norris S, Barrette T, DellaPenna D. Genetic dissection of carotenoid synthesis in arabidopsis defines plastoquinone as an essential component of phytoene desaturation. Plant Cell. 1995;7:2139-49 pubmed
    ..We propose a model for carotenoid synthesis in photosynthetic tissue whereby plastoquinone acts as an intermediate electron carrier between carotenoid desaturases and the photosynthetic electron transport chain. ..
  18. van Hoof A, Lennertz P, Parker R. Yeast exosome mutants accumulate 3'-extended polyadenylated forms of U4 small nuclear RNA and small nucleolar RNAs. Mol Cell Biol. 2000;20:441-52 pubmed
    ..This finding suggests that the cytoplasmic and nuclear forms of the exosome represent two functionally different complexes involved in distinct 3'-to-5' processing and degradation reactions. ..
  19. He W, Parker R. The yeast cytoplasmic LsmI/Pat1p complex protects mRNA 3' termini from partial degradation. Genetics. 2001;158:1445-55 pubmed
  20. Hunter B, Beatty M, Singletary G, Hamaker B, Dilkes B, Larkins B, et al. Maize opaque endosperm mutations create extensive changes in patterns of gene expression. Plant Cell. 2002;14:2591-612 pubmed
    ..Based on global patterns of gene expression, these mutants were categorized in four phenotypic groups as follows: W64A+ and o1; o2; o5/o9/o11; and Mc and fl2. ..
  21. Sanyal S, Consoulas C, Kuromi H, Basole A, Mukai L, Kidokoro Y, et al. Analysis of conditional paralytic mutants in Drosophila sarco-endoplasmic reticulum calcium ATPase reveals novel mechanisms for regulating membrane excitability. Genetics. 2005;169:737-50 pubmed
    ..Finally, our identification of dominant loss-of-function mutations in SERCA indicates novel intra- and intermolecular interactions for SERCA in vivo, overlooked by current structural models. ..
  22. Wood E, Stover D, Slatkin M, Nachman M, Hammer M. The beta -globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria. Am J Hum Genet. 2005;77:637-42 pubmed
    ..The rapid decay in LD upstream of the HbC allele demonstrates the large effect the ss-globin hotspot has in mitigating the effects of positive selection on linked variation. ..
  23. Junk D, Vrba L, Watts G, Oshiro M, Martinez J, Futscher B. Different mutant/wild-type p53 combinations cause a spectrum of increased invasive potential in nonmalignant immortalized human mammary epithelial cells. Neoplasia. 2008;10:450-61 pubmed
    ..These changes may constitute novel biomarkers or reveal novel treatment modalities that could inhibit progression from primary to metastatic breast disease. ..
  24. Worrell J, Levine R. Characterization of voltage-dependent Ca2+ currents in identified Drosophila motoneurons in situ. J Neurophysiol. 2008;100:868-78 pubmed publisher
    ..Altered firing properties in cells from both Dmca1D and Dmca1A mutants indicate a role for both genes in shaping firing properties. ..
  25. Mittelmeier T, Berthold P, Danon A, Lamb M, Levitan A, Rice M, et al. C2 domain protein MIN1 promotes eyespot organization in Chlamydomonas reinhardtii. Eukaryot Cell. 2008;7:2100-12 pubmed publisher
    ..The data are consistent with the hypothesis that neither MIN1 nor proper organization of the plastidic components of the eyespot is essential for localization of ChR1. ..
  26. Burke G, McLaughlin H, Simon J, Moran N. Dynamics of a recurrent Buchnera mutation that affects thermal tolerance of pea aphid hosts. Genetics. 2010;186:367-72 pubmed publisher
    ..This single base polymorphism in Buchnera has the potential to allow aphid populations to adapt quickly to prevailing conditions. ..
  27. Gonzalez V, Hurley L. The C-terminus of nucleolin promotes the formation of the c-MYC G-quadruplex and inhibits c-MYC promoter activity. Biochemistry. 2010;49:9706-14 pubmed publisher
    ..Here we report that nucleolin's RNA binding domains 3 and 4, as well as the arginine-glycine-glycine (RGG) domain, are required to repress c-MYC transcription. ..
  28. Callan M, Clements N, Ahrendt N, Zarnescu D. Fragile X Protein is required for inhibition of insulin signaling and regulates glial-dependent neuroblast reactivation in the developing brain. Brain Res. 2012;1462:151-61 pubmed publisher
    ..This article is part of a Special Issue entitled: RNA-Binding Proteins. ..
  29. Sun D, Guo K, Rusche J, Hurley L. Facilitation of a structural transition in the polypurine/polypyrimidine tract within the proximal promoter region of the human VEGF gene by the presence of potassium and G-quadruplex-interactive agents. Nucleic Acids Res. 2005;33:6070-80 pubmed
  30. Balagopal V, Parker R. Stm1 modulates translation after 80S formation in Saccharomyces cerevisiae. RNA. 2011;17:835-42 pubmed publisher
    ..We demonstrate that in vitro Stm1 inhibits translation after formation of an 80S complex. This suggests that Stm1 modulates translation and mRNA decapping by controlling translation elongation. ..
  31. Azpiroz R, Wu Y, LoCascio J, Feldmann K. An Arabidopsis brassinosteroid-dependent mutant is blocked in cell elongation. Plant Cell. 1998;10:219-30 pubmed
    ..Therefore, an intact brassinosteroid system is an absolute requirement for cell elongation. ..
  32. Toyoda H, Kinoshita Toyoda A, Fox B, Selleck S. Structural analysis of glycosaminoglycans in animals bearing mutations in sugarless, sulfateless, and tout-velu. Drosophila homologues of vertebrate genes encoding glycosaminoglycan biosynthetic enzymes. J Biol Chem. 2000;275:21856-61 pubmed
    ..These findings show that sugarless, sulfateless, and tout-velu affect glycosaminoglycan biosynthesis and demonstrate the utility of Drosophila as a model organism for studying the function and biosynthesis of glycosaminoglycans in vivo. ..
  33. Xiong L, Lee H, Huang R, Zhu J. A single amino acid substitution in the Arabidopsis FIERY1/HOS2 protein confers cold signaling specificity and lithium tolerance. Plant J. 2004;40:536-45 pubmed
  34. Einspahr J, Martinez M, Jiang R, Hsu C, Rashid A, Bhattacharrya A, et al. Associations of Ki-ras proto-oncogene mutation and p53 gene overexpression in sporadic colorectal adenomas with demographic and clinicopathologic characteristics. Cancer Epidemiol Biomarkers Prev. 2006;15:1443-50 pubmed
  35. Alteri C, Xicohtencatl Cortes J, Hess S, Caballero Olin G, Giron J, Friedman R. Mycobacterium tuberculosis produces pili during human infection. Proc Natl Acad Sci U S A. 2007;104:5145-50 pubmed
    ..MTP shares morphological, biochemical, and functional properties attributed to bacterial pili, especially with curli amyloid fibers. Thus, we propose that MTP are previously unidentified host-colonization factors of M. tuberculosis. ..
  36. Li T, Bai L, Li J, Igarashi S, Ghishan F. Sp1 is required for glucose-induced transcriptional regulation of mouse vesicular glutamate transporter 2 gene. Gastroenterology. 2008;134:1994-2003 pubmed publisher
    ..This leads to increased binding activity of Sp1 to the mVGLUT2 promoter and results in activation of the gene. We cloned the mouse VGLUT2 promoter and showed a novel molecular mechanism of glucose-induced mVGLUT2 transcription. ..
  37. Callan M, Cabernard C, Heck J, Luois S, Doe C, Zarnescu D. Fragile X protein controls neural stem cell proliferation in the Drosophila brain. Hum Mol Genet. 2010;19:3068-79 pubmed publisher
    ..Our results demonstrate that FMRP is required during brain development to control the exit from quiescence and proliferative capacity of NB as well as neuron production, which may provide insights into the autistic component of FXS. ..
  38. McKee L, Chen H, Regan J, Behunin S, Walker J, Walker J, et al. Sexually dimorphic myofilament function and cardiac troponin I phosphospecies distribution in hypertrophic cardiomyopathy mice. Arch Biochem Biophys. 2013;535:39-48 pubmed publisher
    ..In conclusion, female and male HCM mice display sex dimorphic myofilament function that is accompanied by a sex- and HCM-dependent distribution of sarcomeric proteins and cTnI phosphospecies. ..
  39. Zayas Santiago A, Cross S, Stanton J, Marmorstein A, Marmorstein L. Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane. Invest Ophthalmol Vis Sci. 2017;58:3046-3054 pubmed publisher
    ..Fibulin-3 ablation results in altered sizes of proteoglycans, altered distributions of MMP-2, MMP-9, and TIMP-3, and enhances diffusion across Bruch's membrane. ..
  40. Hammer M, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, et al. Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome. PLoS ONE. 2017;12:e0180485 pubmed publisher
    ..e., typical genetic background) unless present in combination with a disease-causing truncation mutation in SCN1A. ..
  41. Day W, Koishi K, McLennan I. Transforming growth factor beta 1 may regulate the stability of mature myelin sheaths. Exp Neurol. 2003;184:857-64 pubmed
    ..Results imply that lack of TGF-beta1 may have a direct effect on Schwann cells. We suggest that TGF-beta1 may stabilise compact myelin via an autocrine mechanism. ..
  42. Atsumi S, Little J. Role of the lytic repressor in prophage induction of phage lambda as analyzed by a module-replacement approach. Proc Natl Acad Sci U S A. 2006;103:4558-63 pubmed
    ..These results indicate that this strategy of module exchange will have broad applications for analysis of gene regulatory circuits. ..
  43. Huynh J, Dang H, Munoz Tucker I, O Ketch M, Liu I, Perno S, et al. ESCRT-Dependent Cell Death in a Caenorhabditis elegans Model of the Lysosomal Storage Disorder Mucolipidosis Type IV. Genetics. 2016;202:619-38 pubmed publisher
    ..Thus, increased ESCRT-associated de-ubiquitinating activity mediates the lysosomal defects and corresponding cell death phenotypes in the absence of CUP-5. ..
  44. Wehmeyer N, Hernandez L, Finkelstein R, Vierling E. Synthesis of small heat-shock proteins is part of the developmental program of late seed maturation. Plant Physiol. 1996;112:747-57 pubmed
    ..In total the data indicate that the expression of sHSPs in seeds is part of the normal developmental program of late seed maturation and the presence of sHSPs has adaptive significance for plant reproduction. ..
  45. Anderson J, Parker R. The 3' to 5' degradation of yeast mRNAs is a general mechanism for mRNA turnover that requires the SKI2 DEVH box protein and 3' to 5' exonucleases of the exosome complex. EMBO J. 1998;17:1497-506 pubmed
    ..These observations argue that efficient mRNA turnover is required for viability and that we have identified the two major pathways of mRNA decay in yeast. ..
  46. Whitesell L, Sutphin P, Pulcini E, Martinez J, Cook P. The physical association of multiple molecular chaperone proteins with mutant p53 is altered by geldanamycin, an hsp90-binding agent. Mol Cell Biol. 1998;18:1517-24 pubmed
    ..GA did not, however, appear to restore wild-type transcriptional activating activity to mutant p53 proteins in either A1-5 cells or human breast cancer cell lines. ..
  47. Sandstrom D, Restifo L. Epidermal tendon cells require Broad Complex function for correct attachment of the indirect flight muscles in Drosophila melanogaster. J Cell Sci. 1999;112 ( Pt 22):4051-65 pubmed
    ..By analogy with the cell-cell interaction essential for embryonic muscle attachment, we propose that BRC-Z1 regulates one or more components of the epidermal response to a signal from the developing muscle. ..
  48. Schmelz M, Cress A, Scott K, Bürger F, Cui H, Sallam K, et al. Different phenotypes in human prostate cancer: alpha6 or alpha3 integrin in cell-extracellular adhesion sites. Neoplasia. 2002;4:243-54 pubmed
    ..Three tumor phenotypes associated with two different adhesion complexes were identified, suggesting a reorganization of cell adhesion structures in prostate cancer. ..
  49. Baggett B, Roy R, Momen S, Morgan S, Tisi L, Morse D, et al. Thermostability of firefly luciferases affects efficiency of detection by in vivo bioluminescence. Mol Imaging. 2004;3:324-32 pubmed
    ..Thermostable proteins increase imaging sensitivity. Presumably, as more active protein accumulates, detection is possible from a smaller number of mutant transfected cells compared to wild-type transfected cells. ..
  50. Consoulas C, Levine R, Restifo L. The steroid hormone-regulated gene Broad Complex is required for dendritic growth of motoneurons during metamorphosis of Drosophila. J Comp Neurol. 2005;485:321-37 pubmed
    ..Candidates for mediating the effect of BRC-Z3 on dendritic growth of MN1-MN5 include their synaptic inputs and non-neuronal CNS cells that interact with them through direct contact or diffusible factors. ..
  51. Dai J, Chen D, Jones R, Hurley L, Yang D. NMR solution structure of the major G-quadruplex structure formed in the human BCL2 promoter region. Nucleic Acids Res. 2006;34:5133-44 pubmed
    ..Significantly, the distinct major BCL2 promoter G-quadruplex structure suggests that it can be specifically involved in gene modulation and can be an attractive target for pathway-specific drug design. ..
  52. Sun D, Hurley L. The importance of negative superhelicity in inducing the formation of G-quadruplex and i-motif structures in the c-Myc promoter: implications for drug targeting and control of gene expression. J Med Chem. 2009;52:2863-74 pubmed publisher
  53. Little J, Michalowski C. Stability and instability in the lysogenic state of phage lambda. J Bacteriol. 2010;192:6064-76 pubmed publisher
    ..Several derivatives of ?prm240 with altered stabilities were characterized. This mutant and its derivatives afford a model system for further analysis of stability. ..
  54. Brown R, Gaerig V, Simmons T, Brooks T. Helping Eve overcome ADAM: G-quadruplexes in the ADAM-15 promoter as new molecular targets for breast cancer therapeutics. Molecules. 2013;18:15019-34 pubmed publisher
    ..Characterization of the predominant G4 species formed within the ADAM-15 promoter will allow for specific drug targeting and stabilization, and the further development of novel, targeted therapeutics. ..
  55. Carper S, Willis D, Manning K, Gerner E. Spermidine acetylation in response to a variety of stresses in Escherichia coli. J Biol Chem. 1991;266:12439-41 pubmed
    ..They suggest that polyamine acetylation is involved in the responses of these organisms to a variety of chemical and physical stresses. ..
  56. Restifo L, Wilson T. A juvenile hormone agonist reveals distinct developmental pathways mediated by ecdysone-inducible broad complex transcription factors. Dev Genet. 1998;22:141-59 pubmed
    ..quot; These findings have allowed us to propose novel alternative models linking BRC, juvenile hormone, and MET. ..
  57. Liu J, Zhu J. A calcium sensor homolog required for plant salt tolerance. Science. 1998;280:1943-5 pubmed
    ..The results suggest that intracellular calcium signaling through a calcineurin-like pathway mediates the beneficial effect of calcium on plant salt tolerance. ..
  58. Shi H, Xiong L, Stevenson B, Lu T, Zhu J. The Arabidopsis salt overly sensitive 4 mutants uncover a critical role for vitamin B6 in plant salt tolerance. Plant Cell. 2002;14:575-88 pubmed
    ..We propose that pyridoxal-5-phosphate regulates Na(+) and K(+) homeostasis by modulating the activities of ion transporters. ..
  59. Erickson R. Somatic gene mutation and human disease other than cancer. Mutat Res. 2003;543:125-36 pubmed
    ..Although the parameters to allow careful quantitation are not yet available, it seems that the frequency of gene mutation in embryonic cells is not markedly different than that in the germ-line. ..
  60. Hoeffer C, Sanyal S, Ramaswami M. Acute induction of conserved synaptic signaling pathways in Drosophila melanogaster. J Neurosci. 2003;23:6362-72 pubmed
  61. Cohen Barak O, Yi Z, Hagiwara N, Monzen K, Komuro I, Brilliant M. Sox6 regulation of cardiac myocyte development. Nucleic Acids Res. 2003;31:5941-8 pubmed
    ..Thus, Sox6 is within the BMP pathway in cardiac differentiation, interacts with Prtb and may play a critical role in the regulation of a cardiac L-type Ca2+ channel. ..
  62. Ambrus A, Yang D. Diffusion-ordered nuclear magnetic resonance spectroscopy for analysis of DNA secondary structural elements. Anal Biochem. 2007;367:56-67 pubmed
  63. Jensen T, Wozniak R, Eblin K, Wnek S, Gandolfi A, Futscher B. Epigenetic mediated transcriptional activation of WNT5A participates in arsenical-associated malignant transformation. Toxicol Appl Pharmacol. 2009;235:39-46 pubmed publisher
    ..Taken together, these data suggest that the epigenetic remodeling of the WNT5A promoter is correlated with its transcriptional activation and this upregulation likely participates in arsenical-induced malignant transformation. ..
  64. Chandramouli A, Mercado Pimentel M, Hutchinson A, Gibadulinova A, Olson E, Dickinson S, et al. The induction of S100p expression by the Prostaglandin E? (PGE?)/EP4 receptor signaling pathway in colon cancer cells. Cancer Biol Ther. 2010;10:1056-66 pubmed publisher
    ..Therefore, our data suggest that dysregulated S100P expression resulting from aberrant PGE?/EP4 receptor signaling may have important consequences relevant to colon cancer pathogenesis. ..
  65. Davis A, Cornelison M, Meyers K, Rajapakshe A, Berry R, Tollin G, et al. Effects of mutating aromatic surface residues of the heme domain of human sulfite oxidase on its heme midpoint potential, intramolecular electron transfer, and steady-state kinetics. Dalton Trans. 2013;42:3043-9 pubmed publisher
    ..Lastly, mutations of F79 and Y83, which are located on the surface of the heme domain, but not in direct contact with the heme or the propionate groups, have little effect on either IET or the heme potential. ..
  66. Tsukamoto T, Qin Y, Huang Y, Dunatunga D, Palanivelu R. A role for LORELEI, a putative glycosylphosphatidylinositol-anchored protein, in Arabidopsis thaliana double fertilization and early seed development. Plant J. 2010;62:571-88 pubmed publisher
    ..Our results show that, besides pollen tube reception, LORELEI also functions during double fertilization and early seed development. ..
  67. Gardner R, Putnam C, Weinert T. RAD53, DUN1 and PDS1 define two parallel G2/M checkpoint pathways in budding yeast. EMBO J. 1999;18:3173-85 pubmed
    ..Instead, we think it likely that both pathways contribute to establishing and maintaining arrest. ..
  68. Stimson D, Estes P, Rao S, Krishnan K, Kelly L, Ramaswami M. Drosophila stoned proteins regulate the rate and fidelity of synaptic vesicle internalization. J Neurosci. 2001;21:3034-44 pubmed
    ..These observations are consistent with a model in which stonedA and stonedB act to facilitate the internalization of synaptic vesicle components from the plasma membrane. ..
  69. Xiong L, Gong Z, Rock C, Subramanian S, Guo Y, Xu W, et al. Modulation of abscisic acid signal transduction and biosynthesis by an Sm-like protein in Arabidopsis. Dev Cell. 2001;1:771-81 pubmed
    ..These results suggest a critical role for mRNA metabolism in the control of ABA signaling as well as in the regulation of ABA homeostasis. ..
  70. Shi H, Quintero F, Pardo J, Zhu J. The putative plasma membrane Na(+)/H(+) antiporter SOS1 controls long-distance Na(+) transport in plants. Plant Cell. 2002;14:465-77 pubmed
    ..We present a model in which SOS1 functions in retrieving Na(+) from the xylem stream under severe salt stress, whereas under mild salt stress it may function in loading Na(+) into the xylem. ..
  71. Billington S, Esmay P, Songer J, Jost B. Identification and role in virulence of putative iron acquisition genes from Corynebacterium pseudotuberculosis. FEMS Microbiol Lett. 2002;208:41-5 pubmed
    ..pseudotuberculosis fagB(C) mutant in vitro, this mutant showed reduced virulence compared to wild-type in a goat model of caseous lymphadenitis. Thus, expression of the fag genes in the host appears to contribute to virulence...
  72. Guo Y, Xiong L, Song C, Gong D, Halfter U, Zhu J. A calcium sensor and its interacting protein kinase are global regulators of abscisic acid signaling in Arabidopsis. Dev Cell. 2002;3:233-44 pubmed
    ..Thus, SCaBP5 and PKS3 are part of a calcium-responsive negative regulatory loop controlling ABA sensitivity. ..
  73. Chinnusamy V, Ohta M, Kanrar S, Lee B, Hong X, Agarwal M, et al. ICE1: a regulator of cold-induced transcriptome and freezing tolerance in Arabidopsis. Genes Dev. 2003;17:1043-54 pubmed
    ..ICE1 is expressed constitutively, and its overexpression in wild-type plants enhances the expression of the CBF regulon in the cold and improves freezing tolerance of the transgenic plants. ..
  74. Sanyal S, Jennings T, Dowse H, Ramaswami M. Conditional mutations in SERCA, the Sarco-endoplasmic reticulum Ca2+-ATPase, alter heart rate and rhythmicity in Drosophila. J Comp Physiol B. 2006;176:253-63 pubmed
  75. Sweeney S, Campbell P, Bosco G. Drosophila sticky/citron kinase is a regulator of cell-cycle progression, genetically interacts with Argonaute 1 and modulates epigenetic gene silencing. Genetics. 2008;178:1311-25 pubmed publisher
  76. Sidorenko L, Dorweiler J, Cigan A, Arteaga Vazquez M, Vyas M, Kermicle J, et al. A dominant mutation in mediator of paramutation2, one of three second-largest subunits of a plant-specific RNA polymerase, disrupts multiple siRNA silencing processes. PLoS Genet. 2009;5:e1000725 pubmed publisher
    ..Dominant mutations in the same domain in E. coli RNA polymerase suggest a model for Mop2-1 dominance: complexes containing Mop2-1 subunits are non-functional and compete with wild-type complexes...
  77. Zhang Y, Stanton J, Wu J, Yu K, Hartzell H, Peachey N, et al. Suppression of Ca2+ signaling in a mouse model of Best disease. Hum Mol Genet. 2010;19:1108-18 pubmed publisher
  78. Campbell E, Fares H. Roles of CUP-5, the Caenorhabditis elegans orthologue of human TRPML1, in lysosome and gut granule biogenesis. BMC Cell Biol. 2010;11:40 pubmed publisher
    ..Thus, cellular phenotypes in Mucolipidosis type IV are likely not due to defects in lysosome-related organelle biogenesis, but due to progressive defects in lysosomal transport that lead to severe lysosomal dysfunction. ..
  79. Durbak A, Tax F. CLAVATA signaling pathway receptors of Arabidopsis regulate cell proliferation in fruit organ formation as well as in meristems. Genetics. 2011;189:177-94 pubmed publisher
    ..These results demonstrate the importance of regulating cell proliferation in plants that undergo organogenesis throughout their life cycle. ..
  80. Mathad R, Hatzakis E, Dai J, Yang D. c-MYC promoter G-quadruplex formed at the 5'-end of NHE III1 element: insights into biological relevance and parallel-stranded G-quadruplex stability. Nucleic Acids Res. 2011;39:9023-33 pubmed publisher
    ..This information is important for understanding the equilibrium of promoter G-quadruplex loop isomers and for their drug targeting. ..
  81. Lewis L, Mount D. Interaction of LexA repressor with the asymmetric dinG operator and complete nucleotide sequence of the gene. J Bacteriol. 1992;174:5110-6 pubmed
    ..A long open reading frame located immediately downstream of the asymmetric operator segment which could potentially encode a 72.9-kDa DinG protein was identified. ..
  82. Lydall D, Weinert T. Yeast checkpoint genes in DNA damage processing: implications for repair and arrest. Science. 1995;270:1488-91 pubmed
    ..Another checkpoint gene, RAD9, had a different role: It inhibited the degradation by RAD17, RAD24, and MEC3. A model of how processing of DNA damage may be linked to both DNA repair and cell cycle arrest is proposed. ..
  83. Schwartz D, Parker R. Mutations in translation initiation factors lead to increased rates of deadenylation and decapping of mRNAs in Saccharomyces cerevisiae. Mol Cell Biol. 1999;19:5247-56 pubmed
    ..This view also implies that some cis-acting sequences that modulate mRNA decay rate do so by affecting the translation status of the transcript. ..
  84. Ignatenko N, Gerner E. Regulation of the HIV1 long terminal repeat by mutant heat shock factor. Exp Cell Res. 2003;288:1-8 pubmed
    ..The ability of HSF1+ to suppress HIV1 promoter activity suggests that HSF1+ could serve as a tool for the treatment of AIDS. ..
  85. Gao H, Coyle D, Meyer Ficca M, Meyer R, Jacobson E, Wang Z, et al. Altered poly(ADP-ribose) metabolism impairs cellular responses to genotoxic stress in a hypomorphic mutant of poly(ADP-ribose) glycohydrolase. Exp Cell Res. 2007;313:984-96 pubmed
    ..Our results show that a precise coordination of PARPs and PARG activities is important for normal cellular responses to DNA damage and that this coordination is defective in the absence of the PARG A domain. ..
  86. Hall B, Roberts S, Heroux A, Cordes M. Two structures of a lambda Cro variant highlight dimer flexibility but disfavor major dimer distortions upon specific binding of cognate DNA. J Mol Biol. 2008;375:802-11 pubmed publisher
    ..These results highlight the remarkable flexibility of lambda Cro but also suggest that sequence-specific DNA binding may not induce large changes in the protein structure...
  87. Bauer C, Epstein A, Sweeney S, Zarnescu D, Bosco G. Genetic and systems level analysis of Drosophila sticky/citron kinase and dFmr1 mutants reveals common regulation of genetic networks. BMC Syst Biol. 2008;2:101 pubmed publisher
    ..As both of these genes are implicated in the development and function of the mammalian brain, these results have relevance to human health as well as to understanding more general biological processes. ..
  88. Moran N, McLaughlin H, Sorek R. The dynamics and time scale of ongoing genomic erosion in symbiotic bacteria. Science. 2009;323:379-82 pubmed publisher
    ..Although purifying selection eliminates many mutations, some persist, resulting in ongoing loss of genes and DNA from this already tiny genome. Our results provide a general model for the stepwise process leading to genome reduction...
  89. Marmorstein A, Cross H, Peachey N. Functional roles of bestrophins in ocular epithelia. Prog Retin Eye Res. 2009;28:206-26 pubmed publisher
  90. Radhakrishnan V, Putnam C, Qi W, Martinez J. P53 suppresses expression of the 14-3-3 gamma oncogene. BMC Cancer. 2011;11:378 pubmed publisher
    ..Increased expression of 14-3-3 gamma in lung cancer coincides with loss of functional p53. Hence, we propose that 14-3-3 gamma's oncogenic activities cooperate with loss of p53 to promote lung tumorigenesis. ..
  91. Mendez F, Watkins J, Hammer M. A haplotype at STAT2 Introgressed from neanderthals and serves as a candidate of positive selection in Papua New Guinea. Am J Hum Genet. 2012;91:265-74 pubmed publisher
    ..Although we are not able to pinpoint the precise target of positive selection, we identify nonsynonymous mutations in ERBB3, ESYT1, and STAT2-all of which are part of the same 250 kb introgressive haplotype-as good candidates. ..
  92. Powell D, Roberts L, Ledvina H, Sempowski G, Curtiss R, Frelinger J. Distinct innate responses are induced by attenuated Salmonella enterica serovar Typhimurium mutants. Cell Immunol. 2016;299:42-9 pubmed publisher
    ..Bacterial attenuation is not a single process and results in attenuated host responses, which result in unique patterns for each attenuated mutants. ..