Experts and Doctors on mutation in United States

Summary

Locale: United States
Topic: mutation

Top Publications

  1. Csink A, Linsk R, Birchler J. The Lighten up (Lip) gene of Drosophila melanogaster, a modifier of retroelement expression, position effect variegation and white locus insertion alleles. Genetics. 1994;138:153-63 pubmed
    ..Additionally, Lip modifies the total transcript abundance of both the blood and copia retrotransposons, having an inverse effect on the steady state level of blood transcripts, while showing a non-additive effect on copia RNA. ..
  2. Zipper L, Mulcahy R. Erk activation is required for Nrf2 nuclear localization during pyrrolidine dithiocarbamate induction of glutamate cysteine ligase modulatory gene expression in HepG2 cells. Toxicol Sci. 2003;73:124-34 pubmed
  3. Kemmer K, Corless C, Fletcher J, McGreevey L, Haley A, Griffith D, et al. KIT mutations are common in testicular seminomas. Am J Pathol. 2004;164:305-13 pubmed
    ..These findings suggest that activating KIT mutations may contribute to tumorigenesis in a subset of seminomas, but are not involved in NSGCT...
  4. Deng X, Mercer S, Shah S, Ewton D, Friedman E. The cyclin-dependent kinase inhibitor p27Kip1 is stabilized in G(0) by Mirk/dyrk1B kinase. J Biol Chem. 2004;279:22498-504 pubmed
    ..In addition, depletion of Mirk by RNA(i) in postmitotic C2C12 myoblasts decreased protein but not mRNA levels of p27, suggesting that stabilization of p27 by Mirk also occurs during differentiation. ..
  5. Bidinost C, Hernandez N, Edward D, Al Rajhi A, Lewis R, Lupski J, et al. Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans. Invest Ophthalmol Vis Sci. 2006;47:1486-90 pubmed
    ..TYR is not a modifier of the CYP1B1-associated PCG phenotype in the Saudi Arabian population. ..
  6. Husain A, Zhang X, Doll M, States J, Barker D, Hein D. Functional analysis of the human N-acetyltransferase 1 major promoter: quantitation of tissue expression and identification of critical sequence elements. Drug Metab Dispos. 2007;35:1649-56 pubmed
    ..The 200L29 EMSA shift could not be competed by consensus Sp1 or AP-2 oligonucleotides, and may represent binding of a transcription factor that is common to N-acetyltransferase genes in humans and other species. ..
  7. Xue Z, McCluskey M, Cantera K, Sariaslani F, Huang L. Identification, characterization and functional expression of a tyrosine ammonia-lyase and its mutants from the photosynthetic bacterium Rhodobacter sphaeroides. J Ind Microbiol Biotechnol. 2007;34:599-604 pubmed
    ..Our studies illustrate that relatively minor changes in the primary structure of an ammonia-lyase enzyme can significantly affect its substrate specificity. ..
  8. Huynh N, Mallik B, Zhang L, Martins Green M, Morikis D. Computational studies of CXCR1, the receptor of IL-8/CXCL8, using molecular dynamics and electrostatics. Biopolymers. 2008;89:52-61 pubmed
  9. Farrell C, Crimm H, Meeh P, Croshaw R, Barbar T, Vandersteenhoven J, et al. Somatic mutations to CSMD1 in colorectal adenocarcinomas. Cancer Biol Ther. 2008;7:609-13 pubmed
    ..Interestingly, these mutations occurred predominantly in advanced colorectal tumors,suggesting a role for CSMD1 in the development of late-stage metastatic disease. ..

More Information

Publications1403 found, 100 shown here

  1. Johnson E, Ma P, Ota I, Varshavsky A. A proteolytic pathway that recognizes ubiquitin as a degradation signal. J Biol Chem. 1995;270:17442-56 pubmed
  2. Satoh M, Weintraub J, Yoshida H, Shaheen V, Richards H, Shaw M, et al. Fas and Fas ligand mutations inhibit autoantibody production in pristane-induced lupus. J Immunol. 2000;165:1036-43 pubmed
    ..The data strongly support the idea that different subsets of autoantibodies are regulated differentially by cytokine stimulation and/or Fas signaling. ..
  3. Li H, Harrison D, Jones G, Jones D, Cooper R. Alterations in development, behavior, and physiology in Drosophila larva that have reduced ecdysone production. J Neurophysiol. 2001;85:98-104 pubmed
    ..Structurally the number of varicosities and the terminal length showed significant differences between ecd(1)/ecd(1) and the wild-type ecd(1)/TM6B genotype in the late third instars...
  4. Goel M, Garcia R, Estacion M, Schilling W. Regulation of Drosophila TRPL channels by immunophilin FKBP59. J Biol Chem. 2001;276:38762-73 pubmed
  5. Shou W, Deshaies R. Multiple telophase arrest bypassed (tab) mutants alleviate the essential requirement for Cdc15 in exit from mitosis in S. cerevisiae. BMC Genet. 2002;3:4 pubmed
    ..Transport-defective mutations in two karyopherins can bypass cdc15Delta, suggesting that the function of the MEN is to promote mitotic exit by regulating nuclear transport. ..
  6. Lefferts J, Lambert M. Fanconi anemia cell lines deficient in alphaII spectrin express normal levels of alphaII spectrin mRNA. Biochem Biophys Res Commun. 2003;307:510-5 pubmed
  7. Heidtman M, Chen C, Collins R, Barlowe C. Yos1p is a novel subunit of the Yip1p-Yif1p complex and is required for transport between the endoplasmic reticulum and the Golgi complex. Mol Biol Cell. 2005;16:1673-83 pubmed
    ..Yos1p localizes to ER and Golgi membranes and is efficiently packaged into ER-derived COPII transport vesicles. Yos1p associates with Yip1p and Yif1p, indicating Yos1p is a novel subunit of the Yip1p-Yif1p complex. ..
  8. D Souza I, Schellenberg G. Arginine/serine-rich protein interaction domain-dependent modulation of a tau exon 10 splicing enhancer: altered interactions and mechanisms for functionally antagonistic FTDP-17 mutations Delta280K AND N279K. J Biol Chem. 2006;281:2460-9 pubmed
    ..The data suggest that SF2/ASF has both essential and regulatory roles, whereas Tra2beta has a supporting role in exon 10 splicing. ..
  9. Pastore M, Chin S, Bell K, Dong Z, Yang Q, Yang L, et al. Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD. Am J Pathol. 2005;167:1729-38 pubmed
  10. Szpurka H, Tiu R, Murugesan G, Aboudola S, Hsi E, Theil K, et al. Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T), another myeloproliferative condition characterized by JAK2 V617F mutation. Blood. 2006;108:2173-81 pubmed
    ..In summary, we found that RARS-T reveals a high frequency of JAK2 V617F mutation and likely constitutes another JAK2 mutation-associated form of CMPD. ..
  11. Uppalapati S, Ishiga Y, Wangdi T, Urbanczyk Wochniak E, Ishiga T, Mysore K, et al. Pathogenicity of Pseudomonas syringae pv. tomato on tomato seedlings: phenotypic and gene expression analyses of the virulence function of coronatine. Mol Plant Microbe Interact. 2008;21:383-95 pubmed publisher
    ..The seedling assay can be used in high-throughput screens for the identification of molecular targets for COR and for the identification of genes involved in pathogenesis. ..
  12. Owraghi M, Broitman Maduro G, Luu T, Roberson H, Maduro M. Roles of the Wnt effector POP-1/TCF in the C. elegans endomesoderm specification gene network. Dev Biol. 2010;340:209-21 pubmed publisher
    ..The findings reported here shed new light on the flexibility of combinatorial control mechanisms in endomesoderm specification in Caenorhabditis. ..
  13. Wang X, Ward R. Sec61alpha is required for dorsal closure during Drosophila embryogenesis through its regulation of Dpp signaling. Dev Dyn. 2010;239:784-97 pubmed publisher
    ..Consistent with this model, dorsal closure is rescued in Sec61alpha mutant embryos by an activated form of the Dpp receptor Thick veins. ..
  14. Perera R, Sono M, Kinloch R, Zhang H, Tarasev M, Im S, et al. Stabilization and spectroscopic characterization of the dioxygen complex of wild-type cytochrome P4502B4 (CYP2B4) and its distal side E301Q, T302A and proximal side F429H mutants at subzero temperatures. Biochim Biophys Acta. 2011;1814:69-75 pubmed publisher
  15. Wentzell J, Bolkan B, Carmine Simmen K, Swanson T, Musashe D, Kretzschmar D. Amyloid precursor proteins are protective in Drosophila models of progressive neurodegeneration. Neurobiol Dis. 2012;46:78-87 pubmed publisher
  16. Laurenzana E, Chen T, Kannuswamy M, Sell B, Strom S, Li Y, et al. The orphan nuclear receptor DAX-1 functions as a potent corepressor of the constitutive androstane receptor (NR1I3). Mol Pharmacol. 2012;82:918-28 pubmed publisher
    ..The results of this investigation identify DAX-1 as a novel and potent CAR corepressor and suggest that DAX-1 functions as a coordinate hepatic regulator of CAR's biological function. ..
  17. Zhang Y, Boxberger K, Hagenbuch B. Organic anion transporting polypeptide 1B3 can form homo- and hetero-oligomers. PLoS ONE. 2017;12:e0180257 pubmed publisher
    ..These findings demonstrate that OATP1B3 can form homo- and hetero-oligomers and suggest a potential co-regulation of the involved transporters. ..
  18. Fry C, Slansky J, Farnham P. Position-dependent transcriptional regulation of the murine dihydrofolate reductase promoter by the E2F transactivation domain. Mol Cell Biol. 1997;17:1966-76 pubmed
    ..We propose that, unlike other E2F-regulated promoters, robust transcription from the dhfr promoter requires an E2F transactivation domain close to the transcription start site. ..
  19. Vrentas C, Gaal T, Berkmen M, Rutherford S, Haugen S, Vassylyev D, et al. Still looking for the magic spot: the crystallographically defined binding site for ppGpp on RNA polymerase is unlikely to be responsible for rRNA transcription regulation. J Mol Biol. 2008;377:551-64 pubmed publisher
    ..coli ribosomal RNA transcription initiation and highlight the importance of inclusion of omega in bacterial RNAP preparations. ..
  20. Liu T, Kim H, Arizmendi C, Kitano A, Patel M. Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Proc Natl Acad Sci U S A. 1993;90:5186-90 pubmed
    ..The other point mutation was a nucleotide change from C to T, resulting in the substitution of Leu (CTG) for Pro-453 (CCG). These mutations appear to be significant in that they alter the active site and possibly the binding of FAD. ..
  21. Rabinowitz J, Rutishauser U, Magnuson T. Targeted mutation of Ncam to produce a secreted molecule results in a dominant embryonic lethality. Proc Natl Acad Sci U S A. 1996;93:6421-4 pubmed
    ..Furthermore, the data indicate that potent bioactive cues or signals can be generated by NCAM. ..
  22. Li L, Vaessin H. Pan-neural Prospero terminates cell proliferation during Drosophila neurogenesis. Genes Dev. 2000;14:147-51 pubmed
    ..pros activity, hence, provides a critical regulatory link between neuronal lineage development and transcriptional regulation of cell cycle regulatory genes. ..
  23. Shang X, Zhu H, Lin K, Tu Z, Chen J, Nelson D, et al. Stabilized beta-catenin promotes hepatocyte proliferation and inhibits TNFalpha-induced apoptosis. Lab Invest. 2004;84:332-41 pubmed
    ..Our study suggests that mutant beta-catenin can promote cell proliferation and cell survival ability, but the stabilized beta-catenin alone is insufficient for completely oncogenic transformation. ..
  24. Stepp M, Cason A, Finnis M, Mangelsdorf M, Holinski Feder E, Macgregor D, et al. XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. BMC Med Genet. 2005;6:16 pubmed
    ..The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a panel of XLMR families linked to Xp22 was tested for this particular ARX mutation...
  25. Bao H, Daniels R, MacLeod G, Charlton M, Atwood H, Zhang B. AP180 maintains the distribution of synaptic and vesicle proteins in the nerve terminal and indirectly regulates the efficacy of Ca2+-triggered exocytosis. J Neurophysiol. 2005;94:1888-903 pubmed
    ..These results suggest that AP180 is required for either recycling vesicle proteins and/or maintaining the distribution of both vesicle and synaptic proteins in the nerve terminal. ..
  26. Jiao Y, Kappler A, Croal L, Newman D. Isolation and characterization of a genetically tractable photoautotrophic Fe(II)-oxidizing bacterium, Rhodopseudomonas palustris strain TIE-1. Appl Environ Microbiol. 2005;71:4487-96 pubmed
  27. Roach W, Chavez J, Miinea C, Lienhard G. Substrate specificity and effect on GLUT4 translocation of the Rab GTPase-activating protein Tbc1d1. Biochem J. 2007;403:353-8 pubmed
    ..We found that this form of Tbc1d1 also inhibited GLUT4 translocation and that this effect also required a functional GAP domain. ..
  28. Brown E, Holt J. Rad51 overexpression rescues radiation resistance in BRCA2-defective cancer cells. Mol Carcinog. 2009;48:105-9 pubmed publisher
    ..These results indicate that Rad51 can compensate for some aspects of a BRCA2 gene defect and suggest that Rad51 expression levels may be an important modifier of the BRCA2 defective genotype. ..
  29. Bereta G, Kiser P, Golczak M, Sun W, Heon E, Saperstein D, et al. Impact of retinal disease-associated RPE65 mutations on retinoid isomerization. Biochemistry. 2008;47:9856-65 pubmed publisher
  30. Bangiyeva V, Rosenbloom A, Alexander A, Isanova B, Popko T, Schoenfeld A. Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. BMC Cancer. 2009;9:229 pubmed publisher
    ..VHL has both HIF-alpha dependent and HIF-alpha independent functions in regulating tight junctions and cell morphology that likely impact the clinical phenotypes seen in VHL disease. ..
  31. Jakubowski M, Hunt J. BRAF mutational analysis in papillary carcinomas with mixed follicular and papillary growth patterns. Am J Surg Pathol. 2009;33:1590-3 pubmed publisher
    ..Tumors with mixed patterns of growth, including distinctive area of follicular and papillary growth, have not been well studied for the presence of the BRAF gene mutation...
  32. Li Y, Dunn L, Greggio E, Krumm B, Jackson G, Cookson M, et al. The R1441C mutation alters the folding properties of the ROC domain of LRRK2. Biochim Biophys Acta. 2009;1792:1194-7 pubmed publisher
    ..These data suggest a mechanism whereby the R1441C mutation can reduce the GTPase activity of LRRK2, and highlights the possibility of targeting the stability of the ROC domain as a therapeutic avenue in LRRK2 disease. ..
  33. Troxell M, Levine J, Beadling C, Warrick A, Dunlap J, Presnell A, et al. High prevalence of PIK3CA/AKT pathway mutations in papillary neoplasms of the breast. Mod Pathol. 2010;23:27-37 pubmed publisher
    ..These findings indicate that approximately two-thirds of papillomas are driven by mutations in the PI3CA/AKT pathway. Some papillary carcinomas may arise from these lesions, but others may have different molecular origins. ..
  34. Dai Y, Jia Y, Correll J, Wang X, Wang Y. Diversification and evolution of the avirulence gene AVR-Pita1 in field isolates of Magnaporthe oryzae. Fungal Genet Biol. 2010;47:973-80 pubmed publisher
    ..These findings demonstrate that AVR-Pita1 is under positive selection and mutations of AVR-Pita1 are responsible for defeating race-specific resistance in nature. ..
  35. He X, Ni Y, Wang Y, Romigh T, Eng C. Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53. Hum Mol Genet. 2011;20:80-9 pubmed publisher
  36. Dominguez N, Hackett K, Dillard J. XerCD-mediated site-specific recombination leads to loss of the 57-kilobase gonococcal genetic island. J Bacteriol. 2011;193:377-88 pubmed publisher
    ..These data suggest a model of GGI excision and loss explaining the absence of the GGI from some gonococcal strains and the maintenance of variant GGIs in some gonococcal and meningococcal isolates. ..
  37. Ye Z, Uittenbogaard A, Cohen D, Kaplan A, Ambati J, Straley S. Distinct CCR2(+) Gr1(+) cells control growth of the Yersinia pestis ?yopM mutant in liver and spleen during systemic plague. Infect Immun. 2011;79:674-87 pubmed publisher
    ..pestis to show wild-type growth in skin. The data imply that YopM's pathogenic effect indirectly undermines signaling through CCR2. We propose a model for how YopM exerts its different effects in liver and spleen...
  38. Cameron B, Tse W, Lamb R, Li X, Lamb B, Landreth G. Loss of interleukin receptor-associated kinase 4 signaling suppresses amyloid pathology and alters microglial phenotype in a mouse model of Alzheimer's disease. J Neurosci. 2012;32:15112-23 pubmed publisher
    ..Finally, blocking IRAK function restored olfactory behavior. These data demonstrate that IRAK4 activation acts normally to regulate microglial activation status and influence amyloid homeostasis in the brain. ..
  39. Chen S, Oikonomou G, Chiu C, Niles B, Liu J, Lee D, et al. A large-scale in vivo analysis reveals that TALENs are significantly more mutagenic than ZFNs generated using context-dependent assembly. Nucleic Acids Res. 2013;41:2769-78 pubmed publisher
    ..The higher mutation rates and ability to target essentially any sequence make TALENs the superior technology for targeted mutagenesis in zebrafish, and likely other animal models. ..
  40. Lu F, Taghbalout A. Membrane association via an amino-terminal amphipathic helix is required for the cellular organization and function of RNase II. J Biol Chem. 2013;288:7241-51 pubmed publisher
  41. Bogamuwa S, Jang J. The Arabidopsis tandem CCCH zinc finger proteins AtTZF4, 5 and 6 are involved in light-, abscisic acid- and gibberellic acid-mediated regulation of seed germination. Plant Cell Environ. 2013;36:1507-19 pubmed publisher
    ..Specifically, AtTZF6 can be assembled into PBs and SGs in embryos with the induction of stress hormone methyl jasmonate under the control of native AtTZF6 promoter. ..
  42. Zheng C, Zhang B. Combined deficiency of coagulation factors V and VIII: an update. Semin Thromb Hemost. 2013;39:613-20 pubmed publisher
    ..FV and FVIII likely bind LMAN1 through the high-mannose N-linked glycans under the higher Ca2+ conditions in the ER and dissociate in the lower Ca2+ environment of the ER-Golgi intermediate compartment. ..
  43. Solowska J, D Rozario M, Jean D, Davidson M, Marenda D, Baas P. Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. J Neurosci. 2014;34:1856-67 pubmed publisher
    ..Furthermore, our results provide details on the mechanism of the toxicity that may chart a course toward more effective treatment regimens. ..
  44. Kim Y, Zheng B, Yu Y, Won S, Mo B, Chen X. The role of Mediator in small and long noncoding RNA production in Arabidopsis thaliana. EMBO J. 2011;30:814-22 pubmed publisher
    ..This study expands the function of Mediator to include Pol II-mediated intergenic transcription and implicates a role of Mediator in genome stability. ..
  45. Short J, Sethupathi P, Zhai S, Knight K. VDJ genes in VHa2 allotype-suppressed rabbits. Limited germline VH gene usage and accumulation of somatic mutations in D regions. J Immunol. 1991;147:4014-8 pubmed
  46. Kawasaki F, Mattiuz A, Ordway R. Synaptic physiology and ultrastructure in comatose mutants define an in vivo role for NSF in neurotransmitter release. J Neurosci. 1998;18:10241-9 pubmed
    ..Together, the results reported here define a role for dNSF1 in the priming of docked synaptic vesicles for calcium-triggered fusion. ..
  47. Biswas R, Ledman D, Fox R, Altman S, Gopalan V. Mapping RNA-protein interactions in ribonuclease P from Escherichia coli using disulfide-linked EDTA-Fe. J Mol Biol. 2000;296:19-31 pubmed
  48. Brunkow M, Jeffery E, Hjerrild K, Paeper B, Clark L, Yasayko S, et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet. 2001;27:68-73 pubmed
    ..In sf mice, a frameshift mutation results in a product lacking the forkhead domain. Genetic complementation demonstrates that the protein product of Foxp3, scurfin, is essential for normal immune homeostasis. ..
  49. Sheoran A, Timoney J, Tinge S, Sundaram P, Curtiss R. Intranasal immunogenicity of a Delta cya Delta crp-pabA mutant of Salmonella enterica serotype Typhimurium for the horse. Vaccine. 2001;19:3787-95 pubmed
    ..The results indicate that a S. typhimurium Deltacya Deltacrp-pabA mutant has potential as an intranasal vaccine against salmonellosis in the horse. ..
  50. Schubert L, Jeffery E, Zhang Y, Ramsdell F, Ziegler S. Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation. J Biol Chem. 2001;276:37672-9 pubmed
    ..Our findings indicate that the ability of scurfin to bind DNA, and presumably repress transcription, plays a paramount role in determining the amplitude of the response of CD4 T cells to activation. ..
  51. Mukherjee D, Gao M, O Connor J, Raijmakers R, Pruijn G, Lutz C, et al. The mammalian exosome mediates the efficient degradation of mRNAs that contain AU-rich elements. EMBO J. 2002;21:165-74 pubmed
    ..Finally, PM-Scl75 protein was found to interact specifically with AREs. These data suggest that the interaction between the exosome and AREs plays a key role in regulating the efficiency of ARE-containing mRNA turnover. ..
  52. Carlson H, Ota S, Song Y, Chen Y, Hurlin P. Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation. Oncogene. 2002;21:3827-35 pubmed
    ..Our results support the idea that deregulation and/or excessive levels of Tbx3 may have oncogenic potential in vivo. ..
  53. Eitzen G, Wang L, Thorngren N, Wickner W. Remodeling of organelle-bound actin is required for yeast vacuole fusion. J Cell Biol. 2002;158:669-79 pubmed
    ..This role for actin may extend to other trafficking systems. ..
  54. Yang B, White F. Diverse members of the AvrBs3/PthA family of type III effectors are major virulence determinants in bacterial blight disease of rice. Mol Plant Microbe Interact. 2004;17:1192-200 pubmed publisher
    ..oryzae and supported the hypothesis that bacterial blight disease of rice is highly dependent on a single class of type III effectors. The results also indicated that avrXa7 avirulence specificity is separable from virulence activity...
  55. Wang Y, Magnard J, McCormick S, Yang M. Progression through meiosis I and meiosis II in Arabidopsis anthers is regulated by an A-type cyclin predominately expressed in prophase I. Plant Physiol. 2004;136:4127-35 pubmed
    ..Either of these scenarios is a deviation from the typical mode of action of mitotic cyclins in mitosis and meiosis I, in which each nuclear division is coupled with a peak of expression of mitotic cyclins. ..
  56. Lee C, Robinson K, Doe C. Lgl, Pins and aPKC regulate neuroblast self-renewal versus differentiation. Nature. 2006;439:594-8 pubmed
    ..We conclude that cortical aPKC kinase activity is a potent inducer of neuroblast self-renewal. ..
  57. Terentyev D, Nori A, Santoro M, Viatchenko Karpinski S, Kubalova Z, Gyorke I, et al. Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death. Circ Res. 2006;98:1151-8 pubmed
    ..These results show that intracellular Ca2+ cycling in normal heart relies on an intricate interplay of CASQ2 with the proteins of the RyR2 channel complex and that disruption of these interactions can lead to cardiac arrhythmia. ..
  58. Guo L, Gandhi P, Wang W, Petersen R, Wilson Delfosse A, Chen S. The Parkinson's disease-associated protein, leucine-rich repeat kinase 2 (LRRK2), is an authentic GTPase that stimulates kinase activity. Exp Cell Res. 2007;313:3658-70 pubmed
    ..Since GTPases and MAPKKKs are upstream regulators of multiple signal transduction cascades, LRRK2 may play a central role in integrating pathways involved in neuronal cell signaling and the pathogenesis of PD. ..
  59. Boman B, Huang E. Human colon cancer stem cells: a new paradigm in gastrointestinal oncology. J Clin Oncol. 2008;26:2828-38 pubmed publisher
  60. Pathangey L, Kohler J, Isoda R, Brown T. Effect of expression level on immune responses to recombinant oral Salmonella enterica serovar Typhimurium vaccines. Vaccine. 2009;27:2707-11 pubmed publisher
    ..These data suggest that isotype distribution, immune response level and T helper cell profile are largely unaffected over a wide range of expression levels. ..
  61. Kennedy E, Hergott C, Dewhurst S, Kim B. The mechanistic architecture of thermostable Pyrococcus furiosus family B DNA polymerase motif A and its interaction with the dNTP substrate. Biochemistry. 2009;48:11161-8 pubmed publisher
    ..In summary, these data show that modulation of motif A can greatly shift both the steady and pre-steady state kinetics of the enzyme as well as the fidelity of Pfu Pol. ..
  62. Anastas S, Mueller D, Semple Rowland S, Breunig J, Sarkisian M. Failed cytokinesis of neural progenitors in citron kinase-deficient rats leads to multiciliated neurons. Cereb Cortex. 2011;21:338-44 pubmed publisher
    ..Together, these results show that multinucleated neurons arising from defective cytokinesis can extend multiple cilia. ..
  63. Bartels C, Scacheri C, White L, Scacheri P, Bale S. Mutations in the CHD7 gene: the experience of a commercial laboratory. Genet Test Mol Biomarkers. 2010;14:881-91 pubmed publisher
    ..This cohort represents the largest CHARGE syndrome sample size to date and is intended to serve as a resource for clinicians, genetic counselors, researchers, and other diagnostic laboratories. ..
  64. Chen W, Xu Y, Cho I, Oruganti S, Foster M, Gopalan V. Cooperative RNP assembly: complementary rescue of structural defects by protein and RNA subunits of archaeal RNase P. J Mol Biol. 2011;411:368-83 pubmed publisher
  65. Brelidze T, Carlson A, Sankaran B, Zagotta W. Structure of the carboxy-terminal region of a KCNH channel. Nature. 2012;481:530-3 pubmed publisher
    ..These results provide a structural framework for understanding the regulation of ion channels in the KCNH family by the C-linker/CNBHD and may guide the design of specific drugs. ..
  66. Bagley B, Keane T, Maklakova V, Marshall J, Lester R, Cancel M, et al. A dominantly acting murine allele of Mcm4 causes chromosomal abnormalities and promotes tumorigenesis. PLoS Genet. 2012;8:e1003034 pubmed publisher
    ..Our studies indicate that dominantly acting alleles of MCMs can be compatible with viability but have dramatic oncogenic consequences by causing chromosomal abnormalities. ..
  67. Shadrach K, Rayborn M, Hollyfield J, Bonilha V. DJ-1-dependent regulation of oxidative stress in the retinal pigment epithelium (RPE). PLoS ONE. 2013;8:e67983 pubmed publisher
    ..Most importantly, increased DJ-1 expression prior to oxidative stress leads to decreased generation of ROS, which will be relevant for future studies of AMD since oxidative stress is a known factor affecting this disease. ..
  68. Zhu Y, Ye Y, Wu Z, Wu J. Cooperation between Rho-GEF Gef2 and its binding partner Nod1 in the regulation of fission yeast cytokinesis. Mol Biol Cell. 2013;24:3187-204 pubmed publisher
    ..Moreover, Gef2 binds to purified GTPases Rho1, Rho4, and Rho5 in vitro. Taken together, our data indicate that Nod1 and Gef2 function cooperatively in a protein complex to regulate fission yeast cytokinesis. ..
  69. Tian G, Yan H, Jiang R, Kishi F, Nakazawa A, Tsai M. Mechanism of adenylate kinase. Are the essential lysines essential?. Biochemistry. 1990;29:4296-304 pubmed
    ..Other than this, the 1H NMR spectrum of K27M is very similar to that of WT, suggesting little perturbation in the global or even local conformations.(ABSTRACT TRUNCATED AT 250 WORDS) ..
  70. Lupashin V, Pokrovskaya I, McNew J, Waters M. Characterization of a novel yeast SNARE protein implicated in Golgi retrograde traffic. Mol Biol Cell. 1997;8:2659-76 pubmed
    ..We propose that Vti1p, along with Ykt6p and perhaps Sft1p, acts as a retrograde v-SNARE capable of interacting with the cis-Golgi t-SNARE Sed5p. ..
  71. Beaumont F, Kang H, Brickman T, Armstrong S. Identification and characterization of alcR, a gene encoding an AraC-like regulator of alcaligin siderophore biosynthesis and transport in Bordetella pertussis and Bordetella bronchiseptica. J Bacteriol. 1998;180:862-70 pubmed
    ..Together, these results indicate that AlcR is involved in the regulation of Bordetella alcaligin biosynthesis and transport genes and is required for their full expression. ..
  72. Davis R, Shrimpton A, Carrell R, Lomas D, Gerhard L, Baumann B, et al. Association between conformational mutations in neuroserpin and onset and severity of dementia. Lancet. 2002;359:2242-7 pubmed
    ..The findings provide evidence that inclusion-body formation is in itself a sufficient cause of neurodegeneration, and that the onset and severity of the disease is associated with the rate and magnitude of neuronal protein aggregation. ..
  73. Marmorstein L, Munier F, Arsenijevic Y, Schorderet D, McLaughlin P, Chung D, et al. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc Natl Acad Sci U S A. 2002;99:13067-72 pubmed
    ..These data present evidence that misfolding and aberrant accumulation of EFEMP1 may cause drusen formation and cellular degeneration and play an important role in the etiology of both ML and AMD. ..
  74. Volkman H, Clay H, Beery D, Chang J, Sherman D, Ramakrishnan L. Tuberculous granuloma formation is enhanced by a mycobacterium virulence determinant. PLoS Biol. 2004;2:e367 pubmed
    ..This Mycobacterium-induced macrophage aggregation in turn is tightly linked to intercellular bacterial dissemination and increased bacterial numbers. Thus, mycobacteria co-opt host granulomas for their virulence...
  75. Kim S, Lapham A, Freedman C, Reed T, Schmidt W. Yeast as a tractable genetic system for functional studies of the insulin-degrading enzyme. J Biol Chem. 2005;280:27481-90 pubmed
  76. Vaughan A, Oram J. ABCG1 redistributes cell cholesterol to domains removable by high density lipoprotein but not by lipid-depleted apolipoproteins. J Biol Chem. 2005;280:30150-7 pubmed
    ..These studies show that ABCG1 redistributes cholesterol to cell-surface domains where it becomes accessible for removal by HDL, consistent with a direct role of ABCG1 in cellular cholesterol transport...
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    ..Finally, an analysis of DmBlm mutants in conjunction with mus81 or spnA (Rad51) reveals a second function of BLM distinct from the repair of induced double-strand breaks and possibly related to maintenance of replication forks. ..
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    ..Our study has implications for the use of balancer chromosomes to maintain mutant lines and provides the first large-scale quantitative assessment of the limitations of using breeding populations for repositories of genetic variability. ..
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