Experts and Doctors on mutation in United States


Locale: United States
Topic: mutation

Top Publications

  1. Moniruzzaman M, Lai X, York S, Ingram L. Isolation and molecular characterization of high-performance cellobiose-fermenting spontaneous mutants of ethanologenic Escherichia coli KO11 containing the Klebsiella oxytoca casAB operon. Appl Environ Microbiol. 1997;63:4633-7 pubmed
    ..Two of these strains were used with commercial cellulase to ferment mixed-waste office paper to ethanol. ..
  2. Reneker L, Xie L, Xu L, Govindarajan V, Overbeek P. Activated Ras induces lens epithelial cell hyperplasia but not premature differentiation. Int J Dev Biol. 2004;48:879-88 pubmed
    ..Expression of activated Ras was sufficient to stimulate lens cell proliferation but not differentiation, implying that alternative or additional signal transduction pathways are required to induce fiber cell differentiation. ..
  3. Mavlyutov T, Epstein M, Andersen K, Ziskind Conhaim L, Ruoho A. The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study. Neuroscience. 2010;167:247-55 pubmed publisher
    ..Together these data indicate that the sigma-1 receptor may play a role in the regulation of motor behavior. ..
  4. Schwan W, Coulter S, Ng E, Langhorne M, Ritchie H, Brody L, et al. Identification and characterization of the PutP proline permease that contributes to in vivo survival of Staphylococcus aureus in animal models. Infect Immun. 1998;66:567-72 pubmed
    ..aureus high-affinity proline permease suggests that proline scavenging by the bacteria is important for in vivo growth and proliferation and that analogs of proline may serve as potential antistaphylococcal therapeutic agents...
  5. Sugii S, Reid P, Ohgami N, Du H, Chang T. Distinct endosomal compartments in early trafficking of low density lipoprotein-derived cholesterol. J Biol Chem. 2003;278:27180-9 pubmed
    ..Our results suggest that cholesterol is liberated from LDL cholesteryl ester in the hydrolytic compartment containing AL and then moves to the NPC1-containing late endosome/lysosome before reaching the PM or the endoplasmic reticulum. ..
  6. Ito T, Wellmer F, Yu H, Das P, Ito N, Alves Ferreira M, et al. The homeotic protein AGAMOUS controls microsporogenesis by regulation of SPOROCYTELESS. Nature. 2004;430:356-60 pubmed
  7. Hasona A, Kim Y, Healy F, Ingram L, Shanmugam K. Pyruvate formate lyase and acetate kinase are essential for anaerobic growth of Escherichia coli on xylose. J Bacteriol. 2004;186:7593-600 pubmed
    ..coli in minimal medium. Thus, pyruvate formate lyase and acetate kinase are essential for anaerobic growth of E. coli on xylose due to energetic constraints. ..
  8. Palacios S, Escalante Semerena J. 2-Methylcitrate-dependent activation of the propionate catabolic operon (prpBCDE) of Salmonella enterica by the PrpR protein. Microbiology. 2004;150:3877-87 pubmed publisher
    ..Analysis of the binding-site sequence revealed two sites with dyad symmetry. Results from DNase I footprinting assays suggested that the PrpR protein may have higher affinity for the site proximal to the P(prpBCDE) promoter...
  9. Oka M, Meacham A, Hamazaki T, Rodic N, Chang L, Terada N. De novo DNA methyltransferases Dnmt3a and Dnmt3b primarily mediate the cytotoxic effect of 5-aza-2'-deoxycytidine. Oncogene. 2005;24:3091-9 pubmed
    ..Therefore, Dnmt3-DNA adducts may be more effective for inducing apoptosis than Dnmt1-DNA adducts. These results imply a therapeutic potential of 5-aza-dC to cancers expressing Dnmt3. ..

More Information

Publications1060 found, 100 shown here

  1. West M, Hedges J, Chen A, Johnson A. Defining the order in which Nmd3p and Rpl10p load onto nascent 60S ribosomal subunits. Mol Cell Biol. 2005;25:3802-13 pubmed
    ..These results support the idea that Sqt1p loads Rpl10p onto the Nmd3p-bound subunit after export to the cytoplasm and that Rpl10p loading involves the GTPase Lsg1p. ..
  2. Ruiz N, Wu T, Kahne D, Silhavy T. Probing the barrier function of the outer membrane with chemical conditionality. ACS Chem Biol. 2006;1:385-95 pubmed
    ..The remarkable chemical specificity of the imp4213 suppressors provides insights into the molecular nature of the OM permeability barrier. ..
  3. Rosenberg D, Yang S, Pleau D, Greenspan E, Stevens R, Rajan T, et al. Mutations in BRAF and KRAS differentially distinguish serrated versus non-serrated hyperplastic aberrant crypt foci in humans. Cancer Res. 2007;67:3551-4 pubmed
  4. Studer S, Mandel M, Ruby E. AinS quorum sensing regulates the Vibrio fischeri acetate switch. J Bacteriol. 2008;190:5915-23 pubmed publisher
    ..This is the first report of quorum-sensing control of the acetate switch, and it indicates a metabolic connection between acetate utilization and cell density...
  5. Heinrich M, Owzar K, Corless C, Hollis D, Borden E, Fletcher C, et al. Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III Trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncolo. J Clin Oncol. 2008;26:5360-7 pubmed publisher
    ..We confirmed the favorable impact of KIT exon 11 genotype when compared with KIT exon 9 and wild-type genotype for patients with advanced GIST who are treated with imatinib. ..
  6. Ke T, Gomez C, Mateus H, Castano J, Wang Q. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family. J Hum Genet. 2009;54:660-4 pubmed publisher
    ..These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP...
  7. Pang J, Alexander J, Lei B, Deng W, Zhang K, Li Q, et al. Achromatopsia as a potential candidate for gene therapy. Adv Exp Med Biol. 2010;664:639-46 pubmed publisher
    ..Using adeno-associated virus (AAV)-mediated gene therapy, we and others show that cone function can be restored in all three models. These data suggest that human achromatopsia may be a good candidate for corrective gene therapy...
  8. Maeda A, Okano K, Park P, Lem J, Crouch R, Maeda T, et al. Palmitoylation stabilizes unliganded rod opsin. Proc Natl Acad Sci U S A. 2010;107:8428-33 pubmed publisher
    ..Together, these observations provide evidence for a structural role of rhodopsin S-palmitoylation that may apply to other GPCRs as well. ..
  9. Voorhees J, Brooks C. Obligate ordered binding of human lactogenic cytokines. J Biol Chem. 2010;285:20022-30 pubmed publisher
    ..These results strongly support a conformationally mediated obligate-ordered receptor binding for each of the three lactogenic hormones. ..
  10. Ng S, Bigham A, Buckingham K, Hannibal M, McMillin M, Gildersleeve H, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010;42:790-3 pubmed publisher
    ..Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome. ..
  11. Boverhof D, Chamberlain M, Elcombe C, Gonzalez F, Heflich R, Hernandez L, et al. Transgenic animal models in toxicology: historical perspectives and future outlook. Toxicol Sci. 2011;121:207-33 pubmed publisher
    ..Perspectives are also shared on the future outlook for these models in toxicology and risk assessment and how transgenic technologies are likely to be an integral tool for toxicity testing in the 21st century. ..
  12. Sexton T, Hitchcook L, Rodgers D, Bradley L, Hersh L. Active site mutations change the cleavage specificity of neprilysin. PLoS ONE. 2012;7:e32343 pubmed publisher
    ..These data indicate that it is possible to alter the cleavage site specificity of neprilysin opening the way for the development of substrate specific or substrate exclusive forms of the enzyme with enhanced therapeutic potential. ..
  13. Padgett R. New connections between splicing and human disease. Trends Genet. 2012;28:147-54 pubmed publisher
    ..Mis-splicing of crucial genes may underlie the pathologies of all of these diseases. Identifying these genes and understanding the mechanisms involved in their mis-splicing may lead to advancements in diagnosis and treatment. ..
  14. Wang H, Gouaux E. Substrate binds in the S1 site of the F253A mutant of LeuT, a neurotransmitter sodium symporter homologue. EMBO Rep. 2012;13:861-6 pubmed publisher
    ..These studies, in combination with previous work, are consistent with a mechanism for LeuT that involves a single high-affinity substrate binding site. ..
  15. Katzenberger R, Rach E, Anderson A, Ohler U, Wassarman D. The Drosophila Translational Control Element (TCE) is required for high-level transcription of many genes that are specifically expressed in testes. PLoS ONE. 2012;7:e45009 pubmed publisher
    ..These findings set the stage for determining the mechanism by which the TCE regulates testis-specific transcription and understanding the dual role of the TCE in translational and transcriptional regulation. ..
  16. Murdoch J, State M. Recent developments in the genetics of autism spectrum disorders. Curr Opin Genet Dev. 2013;23:310-5 pubmed publisher
    ..Perhaps most striking has been the revelation that ASD mutations show tremendous phenotypic variability ranging from social disability to schizophrenia, intellectual disability, language impairment, epilepsy and typical development. ..
  17. Paulsel A, Merz A, Nickerson D. Vps9 family protein Muk1 is the second Rab5 guanosine nucleotide exchange factor in budding yeast. J Biol Chem. 2013;288:18162-71 pubmed publisher
    ..Microscopy and overexpression experiments demonstrate that Vps9 and Muk1 have distinct localization determinants. These experiments establish Muk1 as the second Rab5 GEF in budding yeast. ..
  18. Lu T, Yang M, Huang D, Wei H, Ozer G, Ghosh G, et al. Role of lysine methylation of NF-?B in differential gene regulation. Proc Natl Acad Sci U S A. 2013;110:13510-5 pubmed publisher
    ..Thus, the K218/221Q and K37Q mutations have dramatically different effects because methylations of these residues affect different genes by distinct mechanisms. ..
  19. Ukken F, Bruckner J, Weir K, Hope S, Sison S, Birschbach R, et al. BAR-SH3 sorting nexins are conserved interacting proteins of Nervous wreck that organize synapses and promote neurotransmission. J Cell Sci. 2016;129:166-77 pubmed publisher
  20. Robinson L, Hubbard E, Graves P, DePaoli Roach A, Roach P, Kung C, et al. Yeast casein kinase I homologues: an essential gene pair. Proc Natl Acad Sci U S A. 1992;89:28-32 pubmed
    ..Moreover, an increase in casein kinase I activity is observed in extracts from cells overexpressing YCK2. Thus YCK1 and YCK2 appear to encode casein kinase I homologues. ..
  21. Armstrong S, Francis C, McIntosh M. Molecular analysis of the Escherichia coli ferric enterobactin receptor FepA. J Biol Chem. 1990;265:14536-43 pubmed
    ..The results presented in this study have identified key regions of FepA potentially involved in receptor function and demonstrate the presence of both shared and unique ligand-responsive domains. ..
  22. Warmke J, Kreuz A, Falkenthal S. Co-localization to chromosome bands 99E1-3 of the Drosophila melanogaster myosin light chain-2 gene and a haplo-insufficient locus that affects flight behavior. Genetics. 1989;122:139-51 pubmed
    ..Our genetic analysis also resulted in the identification of four dominant flightless alleles of an unlinked locus, l(3)nc99Eb, that exhibits dominant lethal synergism with Ifm(3)99Eb. ..
  23. Ferro F, Kozak S, Hoatlin M, Kabat D. Cell surface site for mitogenic interaction of erythropoietin receptors with the membrane glycoprotein encoded by Friend erythroleukemia virus. J Biol Chem. 1993;268:5741-7 pubmed
    ..Our results support the hypothesis that activation of EpoR by the SFFV env glycoprotein occurs exclusively on cell surfaces...
  24. Borgia P, Iartchouk N, Riggle P, Winter K, Koltin Y, Bulawa C. The chsB gene of Aspergillus nidulans is necessary for normal hyphal growth and development. Fungal Genet Biol. 1996;20:193-203 pubmed
    ..fumigatus. The finding of two class III chitin synthase genes in A. fumigatus and a single gene of this class in A. nidulans illustrates limitations of using A. nidulans as a genetic model for A. fumigatus. ..
  25. He Y, Nakao H, Tan S, Polyak S, Neddermann P, Vijaysri S, et al. Subversion of cell signaling pathways by hepatitis C virus nonstructural 5A protein via interaction with Grb2 and P85 phosphatidylinositol 3-kinase. J Virol. 2002;76:9207-17 pubmed
  26. Umeno D, Tobias A, Arnold F. Evolution of the C30 carotenoid synthase CrtM for function in a C40 pathway. J Bacteriol. 2002;184:6690-9 pubmed
    ..We discovered that Phe 26 alone determines the specificity of CrtM. The plasticity of CrtM with respect to its substrate and product range highlights the potential for creating further new carotenoid backbone structures...
  27. Burns V, Pishko E, Preston A, Maskell D, Harvill E. Role of Bordetella O antigen in respiratory tract infection. Infect Immun. 2003;71:86-94 pubmed
  28. Chen Q, Cai S, Shadrach K, Prestwich G, Hollyfield J. Spacrcan binding to hyaluronan and other glycosaminoglycans. Molecular and biochemical studies. J Biol Chem. 2004;279:23142-50 pubmed
    ..These studies provide the first evidence defining the sites of protein-carbohydrate interaction of molecules present in the IPM. ..
  29. Beahm D, Oshima A, Gaietta G, Hand G, Smock A, Zucker S, et al. Mutation of a conserved threonine in the third transmembrane helix of alpha- and beta-connexins creates a dominant-negative closed gap junction channel. J Biol Chem. 2006;281:7994-8009 pubmed
    ..This mutant may be useful as a tool for knocking down or knocking out connexin function in vitro or in vivo. ..
  30. Suwannakham S, Huang Y, Yang S. Construction and characterization of ack knock-out mutants of Propionibacterium acidipropionici for enhanced propionic acid fermentation. Biotechnol Bioeng. 2006;94:383-95 pubmed
    ..Both mutants produced approximately 14% less acetate from glucose. Although ack disruption alone did not completely eliminate acetate production, the propionate yield was increased by approximately 13%. ..
  31. Cowles C, Goodrich Blair H. nilR is necessary for co-ordinate repression of Xenorhabdus nematophila mutualism genes. Mol Microbiol. 2006;62:760-71 pubmed
    ..Finally, X. nematophila carrying an ectopic copy of nilR colonizes at approximately 60-fold lower levels than the control strain, suggesting that derepression of nil gene expression is necessary for nematode colonization...
  32. Reidling J, Said H. Regulation of the human biotin transporter hSMVT promoter by KLF-4 and AP-2: confirmation of promoter activity in vivo. Am J Physiol Cell Physiol. 2007;292:C1305-12 pubmed
    ..The results demonstrate, for the first time, the importance of KLF-4 and AP-2 in regulating the activity of the hSMVT promoter in the intestine and provide direct in vivo confirmation of hSMVT promoter activity. ..
  33. Wooten Blanks L, Song P, Senkal C, Ogretmen B. Mechanisms of ceramide-mediated repression of the human telomerase reverse transcriptase promoter via deacetylation of Sp3 by histone deacetylase 1. FASEB J. 2007;21:3386-97 pubmed
  34. Pattanaik S, Xie C, Yuan L. The interaction domains of the plant Myc-like bHLH transcription factors can regulate the transactivation strength. Planta. 2008;227:707-15 pubmed publisher
    ..Our study reveals the potential cooperation between functional domains of the bHLH TFs...
  35. Brooks W, Helton E, Banerjee S, Venable M, Johnson L, Schoeb T, et al. G2E3 is a dual function ubiquitin ligase required for early embryonic development. J Biol Chem. 2008;283:22304-15 pubmed publisher
    ..In adult animals, the most intense staining is found in Purkinje cell bodies and cells lining the ductus deferens. In summary, G2E3 is a dual function ubiquitin ligase essential for prevention of apoptosis in early embryogenesis. ..
  36. Jiang T, Wang Z, Wu J. Electrostatic regulation of genome packaging in human hepatitis B virus. Biophys J. 2009;96:3065-73 pubmed publisher
    ..The theoretical predictions of the RNA length and nucleocapsid internal structure are in good agreement with available experiments for the wild-type HBV and mutants with truncated HBcAg C-termini. ..
  37. Cullen T, Giles D, Wolf L, Ecobichon C, Boneca I, Trent M. Helicobacter pylori versus the host: remodeling of the bacterial outer membrane is required for survival in the gastric mucosa. PLoS Pathog. 2011;7:e1002454 pubmed publisher
    ..pylori. Our results demonstrate that dephosphorylation of the lipid A domain of H. pylori LPS by LpxE and LpxF is key to its ability to colonize a mammalian host...
  38. Meier R, Clark B. Angiotensin II-dependent transcriptional activation of human steroidogenic acute regulatory protein gene by a 25-kDa cAMP-responsive element modulator protein isoform and Yin Yang 1. Endocrinology. 2012;153:1256-68 pubmed publisher
    ..The recruitment of these transcription factors to the STAR proximal promoter results in association of CBP and activation of RNA polymerase II leading to increased STAR transcription. ..
  39. Pang J, Deng W, Dai X, Lei B, Everhart D, Umino Y, et al. AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. PLoS ONE. 2012;7:e35250 pubmed publisher
    ..The results provide the foundation for development of an AAV5-based gene therapy trial for human CNGA3 achromatopsia...
  40. Liu Y, Peng L, Seto E, Huang S, Qiu Y. Modulation of histone deacetylase 6 (HDAC6) nuclear import and tubulin deacetylase activity through acetylation. J Biol Chem. 2012;287:29168-74 pubmed publisher
    ..Thus, we conclude that acetylation is an important post-translational modification that regulates HDAC6 tubulin deacetylase activity and nuclear import. ..
  41. Qi Y, Li Q, Shenoy V, Zingler M, Jun J, Verma A, et al. Comparison of the transduction efficiency of tyrosine-mutant adeno-associated virus serotype vectors in kidney. Clin Exp Pharmacol Physiol. 2013;40:53-5 pubmed publisher
    ..A combination of the AAV2 sextuple and the microinjection technique holds the key to the future of therapeutic treatments for kidney diseases. ..
  42. De Souza C, Hashmi S, Osmani A, Andrews P, Ringelberg C, Dunlap J, et al. Functional analysis of the Aspergillus nidulans kinome. PLoS ONE. 2013;8:e58008 pubmed publisher
    ..The identification of many previously unknown functions for kinases through the functional analysis of the A. nidulans kinome illustrates the utility of the A. nidulans gene deletion constructs. ..
  43. Park Y, Lee C, Koo B, Park S, Cosgrove D, Kim S. Monitoring meso-scale ordering of cellulose in intact plant cell walls using sum frequency generation spectroscopy. Plant Physiol. 2013;163:907-13 pubmed publisher
  44. Zhang C, Liu J, Liang Y, Wu R, Zhao Y, Hong X, et al. Tumour-associated mutant p53 drives the Warburg effect. Nat Commun. 2013;4:2935 pubmed publisher
    ..Furthermore, inhibition of glycolysis in tumour cells greatly compromises mutp53 GOF in promoting tumorigenesis. Thus, our results reveal a new mutp53 GOF and a mechanism for controlling the Warburg effect. ..
  45. Sun W, Gaykalova D, Ochs M, Mambo E, Arnaoutakis D, Liu Y, et al. Activation of the NOTCH pathway in head and neck cancer. Cancer Res. 2014;74:1091-104 pubmed publisher
    ..Our results imply that therapies that target the NOTCH pathway may be more widely suitable for HNSCC treatment than appreciated currently. ..
  46. Marchant N, Whitaker L, Bossert J, Harvey B, Hope B, Kaganovsky K, et al. Behavioral and Physiological Effects of a Novel Kappa-Opioid Receptor-Based DREADD in Rats. Neuropsychopharmacology. 2016;41:402-9 pubmed publisher
    ..Our results indicate that the novel KORD is a promising tool to selectively inactivate brain areas and neural circuits in rat studies of motivated behavior. ..
  47. Sedykh I, Yoon B, Roberson L, Moskvin O, Dewey C, Grinblat Y. Zebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis. Dev Biol. 2017;429:92-104 pubmed publisher
    ..Collectively, these data establish zic2 mutant zebrafish as a powerful new genetic model for in-depth dissection of cell interactions and genetic controls during craniofacial complex development. ..
  48. Nahabedian J, Sharma A, Kaczmarek M, Wilkerson G, Sawyer S, Overbaugh J. Owl monkey CCR5 reveals synergism between CD4 and CCR5 in HIV-1 entry. Virology. 2017;512:180-186 pubmed publisher
    ..Introduction of the human residues 15Y and 16T within a sulfation motif into owl monkey CCR5 resulted in a gain of function. These findings suggest there is cross-talk between CD4 and CCR5 involving the sulfation motif. ..
  49. Ha H, Abe K, Artzt K. Primary structure of the embryo-expressed gene KE2 from the mouse H-2K region. Gene. 1991;107:345-6 pubmed
    ..17. Comparison of the wt to the genomic nt sequence from the tw5 mutant shows the KE2 gene is conserved and is probably a functional gene unrelated to the tw5 lethality. ..
  50. Oh J, Bailin T, Fukai K, Feng G, Ho L, Mao J, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996;14:300-6 pubmed
    ..The different clinical phenotypes associated with the different HPS frameshifts we observed suggests that differentially truncated HPS polypeptides may have somewhat different consequences for subcellular function. ..
  51. Keeling K, Lanier J, Du M, Salas Marco J, Gao L, Kaenjak Angeletti A, et al. Leaky termination at premature stop codons antagonizes nonsense-mediated mRNA decay in S. cerevisiae. RNA. 2004;10:691-703 pubmed
    ..5%. This low threshold for the onset of the major component of NMD indicates that mRNA surveillance is an ongoing process that occurs throughout the lifetime of an mRNA. ..
  52. Basset G, Ravanel S, Quinlivan E, White R, Giovannoni J, R beill F, et al. Folate synthesis in plants: the last step of the p-aminobenzoate branch is catalyzed by a plastidial aminodeoxychorismate lyase. Plant J. 2004;40:453-61 pubmed publisher
    ..As shown previously for the ADC synthase transcript, the level of ADC lyase mRNA in the pericarp of tomato fruit falls sharply as ripening advances, suggesting that the expression of these two enzymes is coregulated...
  53. Nazor K, Kuhn F, Seward T, Green M, Zwald D, Pürro M, et al. Immunodetection of disease-associated mutant PrP, which accelerates disease in GSS transgenic mice. EMBO J. 2005;24:2472-80 pubmed
    ..Thus, while pathological mutant PrP possesses a subset of PrP(Sc) characteristics, we now show that the attribute of prion transmission suggested by previous studies is more accurately characterized as disease acceleration. ..
  54. Johnson M, Chen J, Murchison N, Green F, Enns C. Transferrin receptor 2: evidence for ligand-induced stabilization and redirection to a recycling pathway. Mol Biol Cell. 2007;18:743-54 pubmed
    ..The mutation Y23A in the cytoplasmic domain of TfR2 inhibits its internalization and degradation, implicating YQRV as an endocytic motif. ..
  55. Zhu D, Yang Z, Luo Z, Luo S, Xiong W, Mei L. Muscle-specific receptor tyrosine kinase endocytosis in acetylcholine receptor clustering in response to agrin. J Neurosci. 2008;28:1688-96 pubmed publisher
    ..Furthermore, suppression of NSF expression and NSF mutation attenuate MuSK downstream signaling. Our study reveals a potentially novel mechanism that regulates agrin/MuSK signaling cascade. ..
  56. Vale Cruz D, Ma Q, Syme J, LUVALLE P. Activating transcription factor-2 affects skeletal growth by modulating pRb gene expression. Mech Dev. 2008;125:843-56 pubmed publisher
    ..ATF-2 regulates expression of pRb within the developing growth plate, contributing to the skeletal phenotype of ATF-2 mutant mice through the regulation of chondrocyte proliferation and differentiation. ..
  57. Wang S, Yu W, Zhang W, McCrae K, Neel B, Qu C. Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis. J Biol Chem. 2009;284:913-20 pubmed publisher
    ..Collectively, these studies reaffirm the positive role of SHP-2 phosphatase in cell motility and suggest a new mechanism by which SHP-2 GOF mutations contribute to diseases...
  58. Amiel E, Lovewell R, O Toole G, Hogan D, Berwin B. Pseudomonas aeruginosa evasion of phagocytosis is mediated by loss of swimming motility and is independent of flagellum expression. Infect Immun. 2010;78:2937-45 pubmed publisher
    ..These findings provide an explanation for the well-documented observation of nonmotility in clinical P. aeruginosa isolates and for how this phenotype confers upon the bacteria an advantage in the context of immune evasion. ..
  59. Ward T, Evans P, Wiedmann M, Usgaard T, Roof S, Stroika S, et al. Molecular and phenotypic characterization of Listeria monocytogenes from U.S. Department of Agriculture Food Safety and Inspection Service surveillance of ready-to-eat foods and processing facilities. J Food Prot. 2010;73:861-9 pubmed
    ..These results indicated that integration of PFGE and DNA sequence-based subtyping provides an improved framework for prediction of relative risk associated with L. monocytogenes strains from RTE foods...
  60. Taghizadeh R, Noh M, Huh Y, Ciusani E, Sigalotti L, Maio M, et al. CXCR6, a newly defined biomarker of tissue-specific stem cell asymmetric self-renewal, identifies more aggressive human melanoma cancer stem cells. PLoS ONE. 2010;5:e15183 pubmed publisher
  61. Dahl J, Fordice D. Small acid-soluble proteins with intrinsic disorder are required for UV resistance in Myxococcus xanthus spores. J Bacteriol. 2011;193:3042-8 pubmed publisher
    ..Molecular predictions indicate that M. xanthus SASPs may have some association with the cell walls of M. xanthus spores, which may signify a different mechanism of UV protection than that seen in Gram-positive spores. ..
  62. Venkateshwaran M, Cosme A, Han L, Banba M, Satyshur K, Schleiff E, et al. The recent evolution of a symbiotic ion channel in the legume family altered ion conductance and improved functionality in calcium signaling. Plant Cell. 2012;24:2528-45 pubmed publisher
    ..We propose that this single amino acid replacement in the selectivity filter made DMI1 solo sufficient for symbiosis, thus explaining the selective advantage of this allele at the mechanistic level...
  63. Balashov S, Mordechai E, Adelson M, Gygax S. Multiplex bead suspension array for screening Neisseria gonorrhoeae antibiotic resistance genetic determinants in noncultured clinical samples. J Mol Diagn. 2013;15:116-29 pubmed publisher
    ..This molecular assay can be used for detection of gonococci in clinical specimens, molecular typing, mutation profiling, and predictive assessment of N. gonorrhoeae susceptibility to antibiotics without the need for culture...
  64. Matthews M, Chang W, Layne A, Miles L, Krebs C, Bollinger J. Direct nitration and azidation of aliphatic carbons by an iron-dependent halogenase. Nat Chem Biol. 2014;10:209-15 pubmed publisher
    ..The discovery and enhancement by mutagenesis of these previously unknown reaction types suggest unrecognized or untapped versatility in ferryl-mediated enzymatic C-H bond activation. ..
  65. Crocini C, Ferrantini C, Scardigli M, Coppini R, Mazzoni L, Lazzeri E, et al. Novel insights on the relationship between T-tubular defects and contractile dysfunction in a mouse model of hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2016;91:42-51 pubmed publisher
    ..Although T-tubule structural remodelling in Δ160E myocytes is modest, T-tubule functional defects determine non-homogeneous Ca(2+) release and delayed myofilament activation that significantly contribute to mechanical dysfunction. ..
  66. Lewis J, Dickson D, Lin W, Chisholm L, Corral A, Jones G, et al. Enhanced neurofibrillary degeneration in transgenic mice expressing mutant tau and APP. Science. 2001;293:1487-91 pubmed
    ..The interaction between Abeta and tau pathologies in these mice supports the hypothesis that a similar interaction occurs in Alzheimer's disease. ..
  67. Padayatti P, Helfand M, Totir M, Carey M, Carey P, Bonomo R, et al. High resolution crystal structures of the trans-enamine intermediates formed by sulbactam and clavulanic acid and E166A SHV-1 {beta}-lactamase. J Biol Chem. 2005;280:34900-7 pubmed
    ..These observations led us to conclude that the conformational stability of the trans-enamine form is critical for their transient inhibitory efficacy. ..
  68. Homsy J, Jasper H, Peralta X, Wu H, Kiehart D, Bohmann D. JNK signaling coordinates integrin and actin functions during Drosophila embryogenesis. Dev Dyn. 2006;235:427-34 pubmed
    ..Here, we show that zipping is mediated by regulation of the integrins myospheroid and scab. Our data demonstrate that JNK signaling regulates a set of target genes that cooperate to facilitate epithelial movement and closure. ..
  69. Gregory M, Guzauskas G, Edgar T, Clarkson K, Srivastava A, Holden K. A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. J Child Neurol. 2008;23:1433-8 pubmed publisher
    ..The 7-year-old child recently reponded well to a benzodiazepine. Future studies are warranted to examine whether this new missense mutation is solely responsible for this atypical phenotype. ..
  70. Halberg R, Waggoner J, Rasmussen K, White A, Clipson L, Prunuske A, et al. Long-lived Min mice develop advanced intestinal cancers through a genetically conservative pathway. Cancer Res. 2009;69:5768-75 pubmed publisher
    ..Possible factors that promote invasion include age-dependent epigenetic changes, conservative somatic recombination, or direct effects of alleles in the F(1) hybrid genetic background...
  71. Hjelmeland A, Wu Q, Wickman S, Eyler C, Heddleston J, Shi Q, et al. Targeting A20 decreases glioma stem cell survival and tumor growth. PLoS Biol. 2010;8:e1000319 pubmed publisher
    ..A20 anticancer therapies should therefore be viewed with caution as effects will likely differ depending on the tumor type. ..
  72. Kang P, Beven L, Hariharan S, Park H. The Rsr1/Bud1 GTPase interacts with itself and the Cdc42 GTPase during bud-site selection and polarity establishment in budding yeast. Mol Biol Cell. 2010;21:3007-16 pubmed publisher
    ..Our findings thus suggest that dimerization of GTPases may be an efficient mechanism to set up cellular asymmetry. ..
  73. Gao C, Liu Y, Lam M, Kao H. Histone deacetylase 7 (HDAC7) regulates myocyte migration and differentiation. Biochim Biophys Acta. 2010;1803:1186-97 pubmed publisher
    ..Our results provide novel insight into the mechanisms that regulate myocyte differentiation and migration by controlling the subcellular distribution of HDAC7 in differentiating myoblasts. ..
  74. Flowers S, Beck G, Moran E. Transcriptional activation by pRB and its coordination with SWI/SNF recruitment. Cancer Res. 2010;70:8282-7 pubmed publisher
    ..Dissociation of BRM-containing SWI/SNF depends on p300, and association of BRG1-containing SWI/SNF depends on pRB. ..
  75. Brown S, Guss A, Karpinets T, Parks J, Smolin N, Yang S, et al. Mutant alcohol dehydrogenase leads to improved ethanol tolerance in Clostridium thermocellum. Proc Natl Acad Sci U S A. 2011;108:13752-7 pubmed publisher
    ..The simplicity of the genetic basis for the ethanol-tolerant phenotype observed here informs rational engineering of mutant microbial strains for cellulosic ethanol production. ..
  76. Dowlati A, Lipka M, McColl K, Dabir S, Behtaj M, Kresak A, et al. Clinical correlation of extensive-stage small-cell lung cancer genomics. Ann Oncol. 2016;27:642-7 pubmed publisher
    ..Interestingly, ∼25% of SCLC cell lines and tumor specimens expressed RB1 protein, possibly representing the subgroup with wild-type RB1. We found that SCLC tumors harboring no mutation in RB1 had a poor response to chemotherapy. ..
  77. Singh N, Tartakoff A. Two different mutants blocked in synthesis of dolichol-phosphoryl-mannose do not add glycophospholipid anchors to membrane proteins: quantitative correction of the phenotype of a CHO cell mutant with tunicamycin. Mol Cell Biol. 1991;11:391-400 pubmed
    ..Thus, two mutations can interrupt DPM synthesis, and three sets of observations point to an essential role of DPM for addition of GPL anchors. ..
  78. White R, Dowler L, Woo M, Adkison L, Pal S, Gershon D, et al. The tropomodulin (Tmod) gene maps to chromosome 4, closely linked to Mup1. Mamm Genome. 1995;6:332-3 pubmed
  79. Macauley A, Okada M, Nada S, Nakagawa H, Cooper J. Phosphorylation of Src mutants at Tyr 527 in fibroblasts does not correlate with in vitro phosphorylation by CSK. Oncogene. 1993;8:117-24 pubmed
    ..The results suggest that CSK, autophosphorylation, and phosphorylation by kinases other than CSK, may all contribution to repressing Src catalytic activity in fibroblasts. ..
  80. Guilloton M, Lamblin A, Kozliak E, Gerami Nejad M, Tu C, Silverman D, et al. A physiological role for cyanate-induced carbonic anhydrase in Escherichia coli. J Bacteriol. 1993;175:1443-51 pubmed
  81. Desai C, Krueger N, Saito H, Zinn K. Competition and cooperation among receptor tyrosine phosphatases control motoneuron growth cone guidance in Drosophila. Development. 1997;124:1941-52 pubmed
    ..At growth cone choice points along one nerve, two phosphatases cooperate, while along another nerve these same phosphatases can act in opposition to one another. ..
  82. Plenge R, Hendrich B, Schwartz C, Arena J, Naumova A, Sapienza C, et al. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat Genet. 1997;17:353-6 pubmed
    ..All females demonstrate preferential inactivation of the X chromosome carrying the mutation, suggesting that there is an association between alterations in the regulation of XIST expression and X-chromosome inactivation. ..
  83. Tolar L, Pallanck L. NSF function in neurotransmitter release involves rearrangement of the SNARE complex downstream of synaptic vesicle docking. J Neurosci. 1998;18:10250-6 pubmed
  84. Knapik J, Yachnis A, Ripley D, Biegel J, Rathor S, Hardt N, et al. Aggressive uterine sarcoma with rhabdoid features: diagnosis by peritoneal fluid cytology and absence of INI1 gene mutation. Hum Pathol. 2001;32:884-6 pubmed
    ..Fluorescence in situ hybridization (FISH) studies with chromosome 22-specific probes showed no loss of the INI1 gene, and no coding sequence mutation was identified. ..
  85. Herson P, Virk M, Rustay N, Bond C, Crabbe J, Adelman J, et al. A mouse model of episodic ataxia type-1. Nat Neurosci. 2003;6:378-83 pubmed
    ..The stress-induced motor dysfunction in V408A mice is similar to that of family members harboring the EA1 allele, and our findings suggest that these behavioral changes are linked to changes in GABA release. ..
  86. Ball S, Bardenstein D, Alagramam K. Assessment of retinal structure and function in Ames waltzer mice. Invest Ophthalmol Vis Sci. 2003;44:3986-92 pubmed
    ..The explanation for the absence of retinal phenotype in the Ames mouse should be helpful in understanding USH1F and developing treatments for this disorder. ..
  87. He P, Chintamanani S, Chen Z, Zhu L, Kunkel B, Alfano J, et al. Activation of a COI1-dependent pathway in Arabidopsis by Pseudomonas syringae type III effectors and coronatine. Plant J. 2004;37:589-602 pubmed
    ..These results suggest that P. syringae type III effectors and coronatine act by augmenting a COI1-dependent pathway to promote parasitism...
  88. Moon J, Zhao Y, Dai X, Zhang W, Gray W, Huq E, et al. A new CULLIN 1 mutant has altered responses to hormones and light in Arabidopsis. Plant Physiol. 2007;143:684-96 pubmed
    ..Characterization of weak cul1 mutants provides insight into the role of SCFs throughout plant growth and development. ..
  89. Sherwood T, Askwith C. Endogenous arginine-phenylalanine-amide-related peptides alter steady-state desensitization of ASIC1a. J Biol Chem. 2008;283:1818-30 pubmed
    ..Furthermore, our finding that endogenous peptides shift steady-state desensitization suggests that RF-amides could impact the role of ASIC1a in both pain and neuronal damage following stroke and ischemia. ..
  90. Ellett J, Evans Z, Zhang G, Chavin K, Spyropoulos D. A rapid PCR-based method for the identification of ob mutant mice. Obesity (Silver Spring). 2009;17:402-4 pubmed publisher
    ..This primer-specific PCR method allows simultaneous identification of +/+, ob/+, and ob/ob genotypes prior to breeding age to facilitate breeding and research studies in an important model of clinical obesity. ..
  91. Forgacs E, Sakamoto T, Cartwright S, Belknap B, Kovacs M, Toth J, et al. Switch 1 mutation S217A converts myosin V into a low duty ratio motor. J Biol Chem. 2009;284:2138-49 pubmed publisher
    ..Thus we demonstrate that, by mutational perturbation of the switch 1 structure, myosin V can be converted into a low duty ratio motor that is processive only at low substrate concentrations. ..
  92. Tittle R, Sze R, Ng A, Nuckels R, Swartz M, Anderson R, et al. Uhrf1 and Dnmt1 are required for development and maintenance of the zebrafish lens. Dev Biol. 2011;350:50-63 pubmed publisher
    ..These data provide the first evidence that Uhrf1 and Dnmt1 function is required for vertebrate lens development and maintenance. ..